pseudopseudohypoparathyroidism

Summary

Summary: A genetically related form of PSEUDOHYPOPARATHYROIDISM characterized by the same features except for the abnormal response to parathyroid hormone.

Top Publications

  1. pmc Parental origin of transcription from the human GNAS1 gene
    R Campbell
    Human Genetics Unit, University of Edinburgh, Western General Hospital, UK
    J Med Genet 31:607-14. 1994
  2. ncbi Clinical characterization and identification of two novel mutations of the GNAS gene in patients with pseudohypoparathyroidism and pseudopseudohypoparathyroidism
    Hye Young Jin
    Department of Pediatrics, Asan Medical Center Children s Hospital, University of Ulsan College of Medicine, Seoul, Korea
    Clin Endocrinol (Oxf) 75:207-13. 2011
  3. ncbi An inherited mutation associated with functional deficiency of the alpha-subunit of the guanine nucleotide-binding protein Gs in pseudo- and pseudopseudohypoparathyroidism
    J A Fischer
    Department of Orthopedic Surgery, University of Zurich, Switzerland
    J Clin Endocrinol Metab 83:935-8. 1998
  4. ncbi Definable somatic disorders in overweight children and adolescents
    Thomas Reinehr
    Vestische Hospital for Children and Adolescents, University of Witten Herdecke, Datteln, Germany
    J Pediatr 150:618-22, 622.e1-5. 2007
  5. ncbi Analysis of the GNAS1 gene in Albright's hereditary osteodystrophy
    W Ahrens
    Department of Pediatrics, Medical University of Lubeck, Ratzeburger Allee 160, 23538 Lubeck, Germany
    J Clin Endocrinol Metab 86:4630-4. 2001
  6. ncbi Albright's hereditary osteodystrophy and pseudohypoparathyroidism
    Louise C Wilson
    Clinical and Molecular Genetics Unit, Institute of Child Health and Great Ormond Street Hospital, London, UK
    Semin Musculoskelet Radiol 6:273-83. 2002
  7. pmc The gene responsible for pseudohypoparathyroidism type Ib is paternally imprinted and maps in four unrelated kindreds to chromosome 20q13.3
    H Juppner
    Endocrine, Departments of Medicine and Pediatrics, Massachusetts General Hospital and Harvard Medical School, Boston, MA 02114, USA
    Proc Natl Acad Sci U S A 95:11798-803. 1998
  8. ncbi Three cases of osteoma cutis occurring in infancy. A brief overview of osteoma cutis and its association with pseudo-pseudohypoparathyroidism
    Susannah Ward
    Junior Medical Officer Department, SEALS, Prince of Wales Hospital, New South Wales, Australia
    Australas J Dermatol 52:127-31. 2011
  9. ncbi Case of pseudo-pseudohypoparathyroidism associated with juvenile dementia
    Kazuhisa Maeda
    Psychiatry Clin Neurosci 59:111. 2005
  10. ncbi Stimulatory guanine nucleotide binding protein subunit 1 mutation in two siblings with pseudohypoparathyroidism type 1a and mother with pseudopseudohypoparathyroidism
    U Walden
    Division of Paediatric Endocrinology, University Hospital for Children and Adolescents, Erlangen, Germany
    Eur J Pediatr 158:200-3. 1999

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Publications94

  1. pmc Parental origin of transcription from the human GNAS1 gene
    R Campbell
    Human Genetics Unit, University of Edinburgh, Western General Hospital, UK
    J Med Genet 31:607-14. 1994
    ....
  2. ncbi Clinical characterization and identification of two novel mutations of the GNAS gene in patients with pseudohypoparathyroidism and pseudopseudohypoparathyroidism
    Hye Young Jin
    Department of Pediatrics, Asan Medical Center Children s Hospital, University of Ulsan College of Medicine, Seoul, Korea
    Clin Endocrinol (Oxf) 75:207-13. 2011
    Pseudohypoparathyroidism (PHP) and pseudopseudohypoparathyroidism (PPHP) are rare disorders resulting from genetic and epigenetic aberrations in the GNAS locus.
  3. ncbi An inherited mutation associated with functional deficiency of the alpha-subunit of the guanine nucleotide-binding protein Gs in pseudo- and pseudopseudohypoparathyroidism
    J A Fischer
    Department of Orthopedic Surgery, University of Zurich, Switzerland
    J Clin Endocrinol Metab 83:935-8. 1998
    ..The findings demonstrate the same inherited functional defect of Gs alpha in two female patients with pseudo-PSP and in six of their offspring with PSP. The pathogenesis of clinical hypoparathyroidism remains to be clarified...
  4. ncbi Definable somatic disorders in overweight children and adolescents
    Thomas Reinehr
    Vestische Hospital for Children and Adolescents, University of Witten Herdecke, Datteln, Germany
    J Pediatr 150:618-22, 622.e1-5. 2007
    ..To analyze the frequencies and clinical presentation of definable somatic disorders in children who are overweight...
  5. ncbi Analysis of the GNAS1 gene in Albright's hereditary osteodystrophy
    W Ahrens
    Department of Pediatrics, Medical University of Lubeck, Ratzeburger Allee 160, 23538 Lubeck, Germany
    J Clin Endocrinol Metab 86:4630-4. 2001
    ..activity in patients with AHO and pseudohypoparathyroidism type Ia or without resistance to PTH (pseudopseudohypoparathyroidism)...
  6. ncbi Albright's hereditary osteodystrophy and pseudohypoparathyroidism
    Louise C Wilson
    Clinical and Molecular Genetics Unit, Institute of Child Health and Great Ormond Street Hospital, London, UK
    Semin Musculoskelet Radiol 6:273-83. 2002
    ..PHP means end-organ resistance to PTH and is subclassified into types Ia, Ib, and Ic and type II. Pseudopseudohypoparathyroidism (PPHP) is a term used for individuals with AHO who have normal end-organ responses to PTH...
  7. pmc The gene responsible for pseudohypoparathyroidism type Ib is paternally imprinted and maps in four unrelated kindreds to chromosome 20q13.3
    H Juppner
    Endocrine, Departments of Medicine and Pediatrics, Massachusetts General Hospital and Harvard Medical School, Boston, MA 02114, USA
    Proc Natl Acad Sci U S A 95:11798-803. 1998
    ....
  8. ncbi Three cases of osteoma cutis occurring in infancy. A brief overview of osteoma cutis and its association with pseudo-pseudohypoparathyroidism
    Susannah Ward
    Junior Medical Officer Department, SEALS, Prince of Wales Hospital, New South Wales, Australia
    Australas J Dermatol 52:127-31. 2011
    ..These three paediatric cases highlight the importance of understanding the aetiology and associations of osteoma cutis in order to appropriately investigate and manage patients who present with this rare skin disease...
  9. ncbi Case of pseudo-pseudohypoparathyroidism associated with juvenile dementia
    Kazuhisa Maeda
    Psychiatry Clin Neurosci 59:111. 2005
  10. ncbi Stimulatory guanine nucleotide binding protein subunit 1 mutation in two siblings with pseudohypoparathyroidism type 1a and mother with pseudopseudohypoparathyroidism
    U Walden
    Division of Paediatric Endocrinology, University Hospital for Children and Adolescents, Erlangen, Germany
    Eur J Pediatr 158:200-3. 1999
    ..4 years. Regular check-ups of siblings in families with index cases are therefore important. Molecular genetic analyses or biochemical screening for stimulatory guanine nucleotide binding protein defects should be performed...
  11. ncbi The stimulatory G protein alpha-subunit Gs alpha is imprinted in human thyroid glands: implications for thyroid function in pseudohypoparathyroidism types 1A and 1B
    Jie Liu
    Metabolic Diseases Branch, National Institute of Diabetes, Digestive, and Kidney Diseases, National Institutes of Health, Bethesda, Maryland 20892, USA
    J Clin Endocrinol Metab 88:4336-41. 2003
    ..mutations (PHP1A) and the absence of TSH resistance in patients with paternal G(s)alpha mutations (pseudopseudohypoparathyroidism)...
  12. ncbi Late-onset subcutaneous scalp calcifications in a patient with pseudo-pseudohypoparathyroidism
    Laura Ramos
    Department of Endocrinology, University Hospital Marques de Valdecilla, University of Cantabria, 39008, Santander, Cantabria, Spain
    Calcif Tissue Int 95:292-4. 2014
    ..Cutaneous exploration did not show any abnormality. We herein report an unusual case of late-onset scalp calcifications in a patient with PPHP. ..
  13. ncbi A novel GNAS1 mutation in a German family with Albright's hereditary osteodystrophy
    A Klagge
    Department of Internal Medicine, Division of Endocrinology and Nephrology, University of Leipzig, Leipzig, Germany
    Exp Clin Endocrinol Diabetes 118:586-90. 2010
    ..The 13 exons of GNAS1 were analysed by PCR and direct sequencing. We identified a heterozygous missense mutation in exon 1. This novel mutation results in a stop at codon 35 and a truncated non-functional GNAS1 protein...
  14. ncbi The GNAS locus and pseudohypoparathyroidism
    Murat Bastepe
    Endocrine Unit, Department of Medicine, Massachusetts General Hospital and Harvard Medical School, Boston, MA 02114, USA
    Adv Exp Med Biol 626:27-40. 2008
    ..Patients who exhibit AHO features without evidence for hormone resistance, who are said to have pseudopseudohypoparathyroidism (PPHP), also carry heterozygous inactivating Gsalpha mutations...
  15. ncbi Pseudopseudohypoparathyroidism with recurrent polyneuropathy: an autopsy report with special reference to the peripheral nervous system
    T Kanda
    Department of Neurology, Tokyo Metropolitan Neurological Hospital, Japan
    J Neurol Sci 103:42-7. 1991
    The clinical and pathological findings of a 21-year-old girl suffering from pseudopseudohypoparathyroidism (PPHP) with relapsing neuropathy are described...
  16. ncbi Musculoskeletal manifestations of endocrine disorders
    Stephanie B Boswell
    Department of Radiology, Keck School of Medicine, University of Southern California, Los Angeles, CA 90033 5313
    Clin Imaging 38:384-96. 2014
    ..of acromegaly, hypercortisolism, hyperthyroidism, hypothyroidism, hyperparathyroidism, pseudo- and pseudopseudohypoparathyroidism, and diabetes mellitus...
  17. ncbi Endocrine profile and phenotype-(epi)genotype correlation in Spanish patients with pseudohypoparathyroidism
    Eduardo Fernandez-Rebollo
    Endocrinology and Diabetes Research Group, Hospital Universitario de Cruces, Universidad del Pais Vasco Euskal Herriko Unibertsitatea, 48903 Barakaldo, Spain
    J Clin Endocrinol Metab 98:E996-1006. 2013
    ....
  18. ncbi Early manifestation of obesity and calcinosis cutis in infantile pseudohypoparathyroidism
    Preamrudee Poomthavorn
    Department of Endocrinology and Diabetes, The Royal Children s Hospital, Melbourne, Victoria, Australia
    J Paediatr Child Health 42:821-3. 2006
    ..Therefore, the diagnoses of infantile pseudohypoparathyroidism type Ia and maternal pseudopseudohypoparathyroidism were made. This infant presented with an early manifestation of Albright's hereditary osteodystrophy...
  19. ncbi No evidence for GNAS copy number variants in patients with features of Albright's hereditary osteodystrophy and abnormal platelet Gs activity
    Benedetta Izzi
    Center for Molecular and Vascular Biology, University of Leuven, Leuven, Belgium
    J Hum Genet 57:277-9. 2012
    ..AHO without hormone resistance is called pseudopseudohypoparathyroidism (PPHP), a rare clinical condition difficult to diagnose with highly variable features...
  20. pmc Bariatric surgery in an obese patient with Albright hereditary osteodystrophy: a case report
    Chiara Ferrario
    Department of Endocrinology, University Hospital of Lausanne CHUV, Rue du Bugnon 44, Lausanne, 1011, Switzerland
    J Med Case Rep 7:111. 2013
    We report for the first time the case of a patient with Albright hereditary osteodystrophy and pseudopseudohypoparathyroidism who underwent a Roux-en-Y gastric bypass.
  21. ncbi Clinical characterization and molecular classification of 12 Korean patients with pseudohypoparathyroidism and pseudopseudohypoparathyroidism
    S Y Cho
    Department of Pediatrics, Hanyang University Guri Hopistal, Hanyang University College of Medicine, Guri, Republic of Korea
    Exp Clin Endocrinol Diabetes 121:539-45. 2013
    Pseudohypoparathyroidism (PHP) is defined as resistance toward parathyroid hormones. PHP and pseudopseudohypoparathyroidism (PPHP) are rare disorders resulting from genetic and epigenetic aberrations within or upstream of the GNAS locus...
  22. ncbi Pseudohypoparathyroidism with diabetes mellitus and hypothyroidism
    Bedangshu Saikia
    Department of Pediatrics, St Stephens Hospital, Tis Hazari, Delhi, India
    Indian Pediatr 49:989-91. 2012
    We report a 12-year-old child with pseudohypoparathyroidism (PHP) whose mother had pseudopseudohypoparathyroidism. The child had low serum calcium, high phosphorous and high parathormone (PTH) levels...
  23. ncbi Linear skin atrophy preceding calcinosis cutis in pseudo-pseudohypoparathyroidism
    K Lau
    Department of Paediatric Dermatology, Catholic Children s Hospital Wilhelmstift, Hamburg, Germany
    Clin Exp Dermatol 37:646-8. 2012
    ..Analysis of the GNAS gene identified a short duplication leading to a frameshift mutation. We conclude that linear atrophic skin lesions may be an early sign of imminent cutaneous calcifications in AHO...
  24. ncbi Identification of novel mutations confirms PDE4D as a major gene causing acrodysostosis
    Danielle C Lynch
    Department of Medical Genetics, University of Calgary, Calgary, Alberta, Canada
    Hum Mutat 34:97-102. 2013
    ..places PDE4D-related acrodysostosis within the same family of diseases as pseudohypoparathyroidism, pseudopseudohypoparathyroidism, PRKAR1A-related acrodysostosis and brachydactyly-mental retardation syndrome; all characterized by ..
  25. ncbi Acrodysostosis
    C Silve
    INSERM U986, Centre de Référence des Maladies Rares du Métabolisme du Calcium et du Phosphore, Hopital de Bicetre, Le Kremlin Bicetre, France
    Horm Metab Res 44:749-58. 2012
    ..discuss the similarities and differences observed comparing patients with ADOHR and other diseases resulting from defects in the PTHR1 signaling pathway, in particular, pseudohypoparathyroidism type 1a and pseudopseudohypoparathyroidism.
  26. pmc Paternal GNAS mutations lead to severe intrauterine growth retardation (IUGR) and provide evidence for a role of XLαs in fetal development
    Nicolas Richard
    Centre Hospitalier Universitaire de Caen, Department of Genetics, Reference Centre for Rare Disorders of Calcium and Phosphorus Metabolism, F 14000 Caen, France
    J Clin Endocrinol Metab 98:E1549-56. 2013
    ..inactivating mutations cause pseudohypoparathyroidism type Ia (PHP-Ia) when maternally inherited and pseudopseudohypoparathyroidism (PPHP)/progressive osseous heteroplasia (POH) when paternally inherited...
  27. pmc Methylation defect in imprinted genes detected in patients with an Albright's hereditary osteodystrophy like phenotype and platelet Gs hypofunction
    Benedetta Izzi
    Center for Molecular and Vascular Biology, University of Leuven, Leuven, Belgium
    PLoS ONE 7:e38579. 2012
    ..b>Pseudopseudohypoparathyroidism (PPHP) patients with an AHO phenotype and no hormone resistance and progressive osseous heteroplasia (..
  28. ncbi Progressive osseous heteroplasia-like heterotopic ossification in a male infant with pseudohypoparathyroidism type Ia: a case report
    Inessa M Gelfand
    Department of Pediatrics, Division of Pediatric Endocrinology and Diabetology, Indiana University School of Medicine, James Whitcomb Riley Hospital for Children, Indianapolis, IN, USA
    Bone 40:1425-8. 2007
    ..Mutations that cause PHP Ia when maternally inherited can cause POH when paternally inherited. We present an unusual case of a boy with clinical features of both POH and PHP Ia, and a GNAS inactivating mutation...
  29. ncbi Petrified ears associated with pseudopseudohypoparathyroidism
    R M Strauss
    Br J Dermatol 158:409-10. 2008
  30. ncbi [Pseudoidiopathic hypoparathyroidism and pseudopseudohypoparathyroidism]
    Ryo Okazaki
    Third Department of Medicine, Teikyo University School of Medicine, Ichihara Hospital
    Nihon Rinsho . 2006
  31. ncbi Cognitive impairment is prevalent in pseudohypoparathyroidism type Ia, but not in pseudopseudohypoparathyroidism: possible cerebral imprinting of Gsalpha
    M Mouallem
    Department of Medicine E, Sheba Medical Center, Tel Hashomer, and Tel Aviv University School of Medicine, Tel Aviv, Israel
    Clin Endocrinol (Oxf) 68:233-9. 2008
    ..In affected kindreds, some members may have AHO but not hormone resistance; they are termed as pseudopseudohypoparathyroidism (PPHP). The molecular basis for the disorder is heterozygous inactivating mutation of the Gsalpha gene...
  32. ncbi [Albright hereditary osteodystrophy]
    Taichi Kitaoka
    Department of Pediatrics, Osaka University Graduate School of Medicine
    Nihon Rinsho . 2006
  33. ncbi Mutations in the Gs alpha gene causing hormone resistance
    Giovanna Mantovani
    Endocrine Unit, Department of Medical Sciences, University of Milan, Fondazione Ospedale Maggiore, Policlinico, Mangiagalli e Regina Elena IRCCS, Via F Sforza, 35, 20122 Milan, Italy
    Best Pract Res Clin Endocrinol Metab 20:501-13. 2006
    ..This review will focus on inactivating mutations leading to hormone resistance syndromes, i.e., pseudohypoparathyroidism types Ia and Ib...
  34. ncbi [Pseudopseudohypoparathyroidism and genomic imprinting]
    Masanori Minagawa
    Chiba University, Graduate School of Medicine, Department of Pediatrics, Japan
    Clin Calcium 17:1229-33. 2007
    b>Pseudopseudohypoparathyroidism (PPHP) is caused by the paternally-derived mutation in the coding region of GNAS gene...
  35. ncbi [GNAS1 gene abnormality in pseudohypoparathyroidism I a]
    Keiichi Ozono
    Osaka University Graduate School of Medicine, Department of Pediatrics, Japan
    Clin Calcium 17:1214-9. 2007
    ..PHP type I a is associated with Albright's osteodystrophy (AHO). Those patients who have AHO phenotype without hormone resistance are affected by pseudopseudohypoparathyroidism.
  36. ncbi Body mass index differences in pseudohypoparathyroidism type 1a versus pseudopseudohypoparathyroidism may implicate paternal imprinting of Galpha(s) in the development of human obesity
    Dominique N Long
    Division of Pediatric Endocrinology, Department of Pediatrics, Johns Hopkins Hospital, 600 North Wolfe Street, Baltimore, Maryland 21287, USA
    J Clin Endocrinol Metab 92:1073-9. 2007
    ..resistance [pseudohypoparathyroidism type 1a (PHP1a)], whereas paternal inheritance leads to AHO alone [pseudopseudohypoparathyroidism (pseudoPHP)]. Classically, the obesity in AHO is described as occurring similarly in both conditions.
  37. ncbi Albright's hereditary osteodystrophy with extensive heterotopic ossification of the oral and maxillofacial region: how fetuin research may help a seemingly impossible condition
    Marc G DuVal
    Mount Sinai Hospital, Toronto, Ontario, Canada
    J Can Dent Assoc 73:845-50. 2007
    ..In this article, we present such a case, describe the etiology, characteristics and treatment of AHO and suggest a potential role of an inhibitor of bone formation such as fetuin in preventing recurrence of aberrant ossification...
  38. ncbi Compound heterozygous mutations in the GNAS gene of a boy with morbid obesity, thyroid-stimulating hormone resistance, pseudohypoparathyroidism, and a prothrombotic state
    Kathleen Freson
    Center for Molecular and Vascular Biology, University of Leuven, Herestraat 49, B 3000 Leuven, Belgium
    J Clin Endocrinol Metab 93:4844-9. 2008
    Pseudohypoparathyroidism type Ia and pseudopseudohypoparathyroidism are characterized by Albright's hereditary osteodystrophy (AHO), respectively, with and without hormone resistance...
  39. pmc Evolution of pseudohypoparathyroidism: an informative family study
    D G Barr
    Royal Hospital for Sick Children, Edinburgh
    Arch Dis Child 70:337-8. 1994
    An adult woman with pseudopseudohypoparathyroidism had a child with normal calcium and parathyroid hormone concentrations and cyclic AMP response to injected parathyroid hormone in infancy. By 2...
  40. ncbi Total knee arthroplasty in a patient with pseudopseudohypoparathyroidism
    Michael R Fraser
    Naval Medical Center San Diego, California 92134, USA
    Orthopedics 34:e413-7. 2011
    b>Pseudopseudohypoparathyroidism (PPH) is a rare genetic disorder characterized by multiple musculoskeletal anomalies and normal serum calcium, phosphate, and parathyroid hormone levels...
  41. pmc Heterotopic ossifications in a mouse model of albright hereditary osteodystrophy
    David L Huso
    Department of Molecular and Comparative Pathobiology, Johns Hopkins University School of Medicine, Baltimore, Maryland, United States of America
    PLoS ONE 6:e21755. 2011
    ..When inherited paternally, GNAS mutations cause only AHO but not hormonal resistance, termed pseudopseudohypoparathyroidism (PPHP)...
  42. ncbi A novel aspect of GNAS imprinting: higher maternal expression of Gαs in human lymphoblasts, peripheral blood mononuclear cells, mammary adipose tissue, and heart
    Stefanie Klenke
    Institut für Pharmakogenetik, Universität Duisburg Essen and Universitätsklinikum Essen, Hufelandstr 55, 45122 Essen, Germany
    Mol Cell Endocrinol 341:63-70. 2011
    ..5-57.7%) in PBMC, 54.5±0.8% (95% CI 53-56.1%) in MAT and 54.1±0.6% (95% CI 53-55.3%) in HT). Maternal ratio differed significantly from the mean (p<0.0001). This phenomenon may be a general feature existing in all tissues...
  43. pmc Progressive osseous heteroplasia in a 10-year-old male child
    Girish K Singh
    Department of Orthopaedics, CSM Medical University, Lucknow, Uttar Pradesh, India
    Indian J Orthop 45:280-2. 2011
    ..heterotopic ossification, such as fibrodysplasia ossificans progressiva, pseudohypoparathyroidism, and pseudopseudohypoparathyroidism. The cause of POH is an inactivating GNAS1 (guanine nucleotide-binding protein alpha-stimulating ..
  44. ncbi Endocrine and metabolic disorders in HTLV-1 infected patients
    Cresio Alves
    Pediatric Endocrinology, Hospital Universitario Prof Edgard Santos, Faculty of Medicine, Universidade Federal da Bahia, Brazil
    Braz J Infect Dis 14:613-20. 2010
    ..disorders, diabetes insipidus, inappropriate antidiuretic hormone secretion; pseudohypoparathyroidism; pseudopseudohypoparathyroidism. The proven endocrine manifestations of the HTLV-1 infection are calcium disorders which occur in some ..
  45. pmc Osteoma cutis as the presenting feature of albright hereditary osteodystrophy associated with pseudopseudohypoparathyroidism
    Ki Heon Jeong
    Department of Dermatology, College of Medicine, Kyunghee University, Seoul, Korea
    Ann Dermatol 21:154-8. 2009
    ..An AHO phenotype without hormonal resistance is called pseudopseudohypoparathyroidism (PPHP). Osteoma cutis is less common in patients with PPHP than in patients with PHP...
  46. ncbi [Albright's hereditary osteodystrophy: report of three cases]
    María M Buján
    Servicio de Dermatologia, Hospital de Pediatria Prof Dr Juan P Garrahan
    Arch Argent Pediatr 108:e24-7. 2010
    ..Pseudo-pseudohypoparathyroidism has no peripheral resistance to these hormones. We present three patients evaluated in our hospital with clinical manifestations of Albright's syndrome...
  47. ncbi Progressive osseous heteroplasia: a model for the imprinting effects of GNAS inactivating mutations in humans
    M Lebrun
    Department of Genetics and Reproduction, University Hospital Caen, 14033 Caen, France
    J Clin Endocrinol Metab 95:3028-38. 2010
    ..mutations are known to induce pseudohypoparathyroidism type 1a when maternally inherited and pseudopseudohypoparathyroidism when paternally inherited...
  48. ncbi [Epigenetics and pseudohypoparathyroidism]
    N Richard
    Laboratoire de Genetique Moleculaire, Departement Genetique et Reproduction, CHU de Caen, Avenue G Clemenceau, 14033 Caen, France
    Pathol Biol (Paris) 58:367-71. 2010
    ..The phenotype is known as PHP1b. In the familial forms, these methylation anomalies are associated with a deletion of the syntaxine 16 gene in the maternal allele. This gene contains probably the imprinting center of the locus...
  49. ncbi Albright hereditary osteodystrophy: a rare case report
    M Goswami
    Department of Pediatric and Preventive Dentistry, Maulana Azad Institute of Dental Sciences, New Delhi, India
    J Indian Soc Pedod Prev Dent 27:184-8. 2009
    ..We report a clinical case of siblings with AHO with reduced Gs-alpha activity and we discuss their clinical features with oral manifestations, radiographic findings, laboratory tests along with treatment...
  50. ncbi GNAS defects identified by stimulatory G protein alpha-subunit signalling studies in platelets
    Kathleen Freson
    Center for Molecular and Vascular Biology, University of Leuven, Herestraat 49, B 3000 Leuven, Belgium
    J Clin Endocrinol Metab 93:4851-9. 2008
    ..Phenotypes resulting from genetic and epigenetic abnormalities of the GNAS region include Albright's hereditary osteodystrophy, pseudohypoparathyroidism types Ia (PHPIa) and Ib (PHPIb), and pseudopseudohypoparathyroidism (PPHP).
  51. ncbi [Pseudohypoparathyroidism type Ia - a novel mutation]
    M Reis Oliveira
    Unidade Hospital Santo António, Centro Hospitalar do Porto, Porto, Portugal
    An Pediatr (Barc) 72:424-7. 2010
    ..Several mutations were identified in the GNAS1 gene in individuals with PHP-Ia and pseudopseudohypoparathyroidism (PPHP)...
  52. ncbi Unusual long bone and metacarpo-carpal abnormalities in a case of pseudo-pseudohypoparathyroidism
    Zeliha Unlu
    Department of Physical Medicine and Rehabilitation, Celal Bayar University School of Medicine, Manisa, Turkey
    Clin Rheumatol 26:1155-7. 2007
    ..Involvement of the fourth digits both in hands and feet were more prominent on the left side, with shortening of the left leg...
  53. ncbi Pseudopseudohypoparathyroidism with spinal cord compression
    C Van Dop
    Department of Pediatrics, Johns Hopkins Medical Institutions, Baltimore, Maryland
    Pediatr Radiol 18:429-31. 1988
    We describe a patient with pseudopseudohypoparathyroidism who had an osseous tubercle on the anterolateral margin of the foramen magnum causing compression of the spinal cord...
  54. ncbi Mutational analysis of GNAS1 in patients with pseudohypoparathyroidism: identification of two novel mutations
    G Mantovani
    Ospedale Maggiore IRCCS, Institute of Endocrine Sciences, University of Milan, Italy
    J Clin Endocrinol Metab 85:4243-8. 2000
    ..of physical features, termed Albright's hereditary osteodystrophy (AHO), are present, and pseudopseudohypoparathyroidism (PPHP), in which AHO occurs without PTH resistance...
  55. ncbi [A case of HTLV-1 associated myelopathy (HAM) with pseudopseudohypoparathyroidism]
    J Fujita
    Department of Neurology, Tachikawa Hospital
    Rinsho Shinkeigaku 40:611-3. 2000
    We report a case of HTLV-1 associated myelopathy (HAM) with pseudopseudohypoparathyroidism (PPHP). A 57-year-old woman, without a history of blood transfusion, was admitted with numbness and pain in her legs...
  56. ncbi Identification of two novel deletion mutations within the Gs alpha gene (GNAS1) in Albright hereditary osteodystrophy
    D Yu
    Metabolic Diseases Branch, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, Maryland 20892, USA
    J Clin Endocrinol Metab 84:3254-9. 1999
    ..Within AHO kindreds, some affected family members have only the somatic features of AHO [pseudopseudohypoparathyroidism (PPHP)], whereas others have these features in association with resistance to multiple hormones that ..
  57. ncbi GNAS1 mutational analysis in pseudohypoparathyroidism
    S F Ahmed
    MRC Molecular Endocrinology Group, Imperial College School of Medicine, Hammersmith Hospital London, UK
    Clin Endocrinol (Oxf) 49:525-31. 1998
    ..protein, have been identified in patients with pseudohypoparathyroidism type Ia (PHPIa) and pseudopseudohypoparathyroidism (PPHP)...
  58. ncbi Osteoma cutis as a presenting sign of pseudohypoparathyroidism
    J S Prendiville
    Department of Pediatrics, Northwestern University, Chicago, Illinois
    Pediatr Dermatol 9:11-8. 1992
    ..children with osteoma cutis and Albright hereditary osteodystrophy (pseudohypoparathyroidism and pseudopseudohypoparathyroidism) are described...
  59. ncbi Military service and pseudopseudohypoparathyroidism: recognizing red flags for rare medical conditions
    J E Riggs
    Department of Neurology, West Virginia University School of Medicine, Morgantown 26506 9180, USA
    Mil Med 162:510-2. 1997
    b>Pseudopseudohypoparathyroidism is a rare disorder characterized by normal serum parathyroid hormone, calcium, and phosphate and skeletal abnormalities (referred to as Albright's hereditary osteodystrophy) that include short stature, short ..
  60. ncbi Clinical implications of genetic defects in G proteins. The molecular basis of McCune-Albright syndrome and Albright hereditary osteodystrophy
    M D Ringel
    Department of Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland 21205, USA
    Medicine (Baltimore) 75:171-84. 1996
    ..Further investigations of the functions of G alpha s and other members of the GTPase binding protein family will provide more insight into the pathogenesis and clinical manifestations of human disease...
  61. ncbi Familial Albright's hereditary osteodystrophy with hypoparathyroidism: normal structural Gs alpha gene
    H Shapira
    Laboratory of Biochemical Pharmacology, Sheba Medical Center Tel Hashomer, Tel Aviv, Israel
    J Clin Endocrinol Metab 81:1660-2. 1996
    ..PHP) who have resistance to PTH and in their eumetabolic family members who have pseudopseudohypoparathyroidism (PPHP)...
  62. ncbi Functional properties of the PTH/PTHrP receptor
    H Juppner
    Department of Medicine, Massachusetts General Hospital, Boston, USA
    Bone 17:39S-42S. 1995
    ..A missense mutation was identified which causes constitutive, ligand-independent receptor activation, and thus explains the laboratory and the growth-plate abnormalities in affected individuals...
  63. ncbi Cutaneous ossification in Albright's hereditary osteodystrophy
    R M Trueb
    Department of Dermatology, University Hospital, Zurich, Switzerland
    Dermatology 186:205-9. 1993
    ..AHO refers to the phenotype of the syndromes of pseudo-hypoparathyroidism (PHP) type Ia and pseudopseudohypoparathyroidism (PPHP), both considered genetically related variants with a defect of the alpha subunit of the ..
  64. pmc Imprinting in Albright's hereditary osteodystrophy
    S J Davies
    Institute of Medical Genetics, University Hospital of Wales, Heath Park, Cardiff
    J Med Genet 30:101-3. 1993
    ....
  65. ncbi G protein mutations in human disease
    L S Weinstein
    Molecular Pathophysiology Branch, National Institute of Diabetes, Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD 20892
    Clin Biochem 26:333-8. 1993
    ..Such G protein mutations play a role in the pathogenesis of several human diseases, including sporadic endocrine tumors, McCune-Albright syndrome, and Albright hereditary osteodystrophy...
  66. ncbi Pseudopseudohypoparathyroidism associated with idiopathic growth hormone deficiency. Role of treatment with biosynthetic growth hormone
    R Manfredi
    Divisione di Pediatria, Ospedale per gli Infermi, Faenza, Italy
    J Endocrinol Invest 16:709-13. 1993
    ..of all metacarpals and metatarsals and of the second middle hand phalanges, whose diagnosis of pseudopseudohypoparathyroidism (PPHP) was confirmed by laboratory evaluation (normocalcemia, normophosphatemia, normal levels of ..
  67. ncbi [Albright's hereditary osteodystrophy I and cataract]
    C Nicu
    Sectia de Oftalmologie, Drobeta Tr Severin
    Oftalmologia 39:109-13. 1995
    ..It is proved that the pseudoparathyroidism and the pseudopseudohypoparathyroidism are two clinical manifestations of the same affection...
  68. ncbi [Cutaneous osteoma and Albright's hereditary osteodystrophy]
    S Canillot
    Service de Dermatologie, hôpital de l Hôtel dieu, Lyon
    Ann Dermatol Venereol 121:408-13. 1994
    ..cAMP) markedly increased after intravenous injection of parathyroid hormone, referring to pseudopseudohypoparathyroidism. Albright's hereditary osteodystrophy is associated either with pseudohypoparathyroidism type 1a ..
  69. pmc Pseudopseudohypoparathyroidism and spinal cord compression
    P J Goadsby
    Department of Neurology, National Hospital for Neurology and Neurosurgery, Maida Vale, London, UK
    J Neurol Neurosurg Psychiatry 54:929-31. 1991
    ..Serum calcium and phosphate and parathyroid concentrations were normal. Myelography demonstrated compression of the cervical and lumbar cord in association with local bony abnormalities...
  70. ncbi Hemifacial spasm in Albright's hereditary osteodystrophy with pseudopseudohypoparathyroidism and nephrogenic diabetes insipidus--case report
    H Oyama
    Department of Neurosurgery, Komaki City Hospital, Aichi, Japan
    Neurol Med Chir (Tokyo) 35:380-4. 1995
    A 30-year-old male with Albright's hereditary osteodystrophy, pseudopseudohypoparathyroidism, and nephrogenic diabetes insipidus presented with hemifacial spasm persisting for 2 years. This association is extremely unusual...
  71. ncbi [Albright hereditary osteodystrophy: identification of a novel mutation in a family]
    M Bastida Eizaguirre
    Servicios de Pediatría Endocrinología Hospital Santiago Apóstol Vitoria
    An Esp Pediatr 54:598-600. 2001
    ..Albright's hereditary osteodystrophy and brachymetacarpia without resistance to parathyroid hormone (Pseudopseudohypoparathyroidism). A point mutation designated c...
  72. ncbi Pseudohypoparathyroidism Ia and hypercalcitoninemia
    V Vlaeminck-Guillem
    Service de Médecine Interne et Endocrinologie, CHU de Lille, 59037 Lille, France
    J Clin Endocrinol Metab 86:3091-6. 2001
    ..C cell dysfunction in PHP, calcitonin assays were performed in six patients with PHP Ia and four with pseudopseudohypoparathyroidism from three unrelated families...
  73. ncbi Osteoma cutis in pseudohypoparathyroidism
    G Sethuraman
    Department of Dermatology, All India Institute of Medical Sciences, New Delhi, India
    Clin Exp Dermatol 31:225-7. 2006
    ..as pseudohypoparathyroidism type Ia) or normocalcaemic-type pseudohypoparathyroidism (also known as pseudopseudohypoparathyroidism)...
  74. ncbi Bilateral shortening of third and fourth metacarpal bones
    Sandhya K Adusumilli
    Department of Medicine, Albert Einstein Medical Center, 55012 Old York Road, Philadelphia, 9141, USA
    J Clin Rheumatol 11:109-11. 2005
  75. ncbi What is and what is not 'Fahr's disease'
    Bala V Manyam
    Department of Neurology, Scott and White Clinic, Plummer Movement Disorders Center, The Texas A and M University System Health Science Center College of Medicine, Temple, TX 76508, USA
    Parkinsonism Relat Disord 11:73-80. 2005
    ..Calcium and other mineral deposits cannot be linked to a single chromosomal locus. Further genetic studies to identify the chromosomal locus for the disease are in progress...
  76. ncbi GNAS locus and pseudohypoparathyroidism
    Murat Bastepe
    Endocrine Unit, Department of Medicine, Massachusetts General Hospital, Harvard Medical School, Boston, MA 02114, USA
    Horm Res 63:65-74. 2005
    ..These features are also present in pseudopseudohypoparathyroidism (PPHP), but patients affected by this disorder do not show hormone resistance...
  77. ncbi Molecular delineation of deletions on 2q37.3 in three cases with an Albright hereditary osteodystrophy-like phenotype
    A E Shrimpton
    Department of Pediatrics, SUNY Upstate Medical University, Syracuse, NY, USA
    Clin Genet 66:537-44. 2004
    ..reported cases of terminal 2q37 deletion clinically resemble Albright hereditary osteodystrophy (AHO)/pseudopseudohypoparathyroidism and have only mild-to-moderate mental retardation...
  78. ncbi A new heterozygous mutation (L338N) in the human Gsalpha (GNAS1) gene as a cause for congenital hypothyroidism in Albright's hereditary osteodystrophy
    Joachim Pohlenz
    Children s Hospital, Johannes Gutenberg University, Langenbeckstrasse 1, D 55101 Mainz, Germany
    Eur J Endocrinol 148:463-8. 2003
    ..To identify the molecular defect by which psychomotor retardation is caused in two brothers with congenital hypothyroidism who received adequate treatment with l-thyroxine...
  79. ncbi Spastic tetraparesis in a patient with pseudopseudohypoparathyroidism
    Tamaki Iwase
    J Neurol 249:1457-8. 2002
  80. pmc Analysis of GNAS1 and overlapping transcripts identifies the parental origin of mutations in patients with sporadic Albright hereditary osteodystrophy and reveals a model system in which to observe the effects of splicing mutations on translated and untra
    Sarah J Rickard
    Clinical and Molecular Genetics Unit, Institute of Child Health, and Great Ormond Street Hospital NHS Trust, London, United Kingdom
    Am J Hum Genet 72:961-74. 2003
    ..This cluster of overlapping transcripts represents a useful model system in which to analyze the effects that mutant sequence has on mRNA-in particular, splicing-and the mechanisms of nonsense-mediated mRNA decay...
  81. ncbi Molecular analysis of the GNAS1 gene for the correct diagnosis of Albright hereditary osteodystrophy and pseudohypoparathyroidism
    Luisa de Sanctis
    Department of Pediatric Sciences, 94, Piazza Polonia, 10126 Torino, Italy
    Pediatr Res 53:749-55. 2003
    ..mutations in the GNAS1 gene encoding the Gsalpha protein have been identified both in PHP-Ia and in pseudopseudohypoparathyroidism (PPHP), a disorder with isolated AHO...
  82. ncbi A patient with acute-onset HAM/TSP after blood transfusion complicated with pseudopseudohypoparathyroidism
    Yoshihiro Yoshida
    School of Medical Sciences, Faculty of Medicine, Kagoshima University
    Intern Med 41:899-900. 2002
  83. ncbi Primary palpebral and orbital ossification in pseudo-pseudohypoparathyroidism
    Stefan Klauber
    Eye Pathology Institute, University of Copenhagen, Denmark
    Acta Ophthalmol Scand 80:543-5. 2002
    ..To present a case of ossification of the eyelid, episclera and orbit in a patient with pseudo-pseudohypoparathyroidism (pPHP)...
  84. ncbi Gs(alpha) mutations and imprinting defects in human disease
    Lee S Weinstein
    Metabolic Diseases Branch, National Institute of Diabetes, Digestive, and Kidney Diseases, National Institutes of Health, Bethesda, Maryland 20892, USA
    Ann N Y Acad Sci 968:173-97. 2002
    ..pseudohypoparathyroidism type IA), while paternal transmission leads only to the AHO phenotype (pseudopseudohypoparathyroidism)...
  85. ncbi GNAS1 mutations and progressive osseous heteroplasia
    Zvi Farfel
    N Engl J Med 346:1669-71. 2002
  86. ncbi Endocrine manifestations of stimulatory G protein alpha-subunit mutations and the role of genomic imprinting
    L S Weinstein
    Metabolic Diseases Branch, National Institute of Diabetes, Digestive, and Kidney Diseases, National Institutes of Health, Bethesda, Maryland 20892, USA
    Endocr Rev 22:675-705. 2001
    ..Interestingly, paternal transmission of GNAS1 mutations leads to the AHO phenotype alone (pseudopseudohypoparathyroidism), while maternal transmission leads to AHO plus resistance to several hormones (e.g...
  87. ncbi STK25 is a candidate gene for pseudopseudohypoparathyroidism
    M S Davids
    Cell Signaling Technology, Beverly, Massachusetts 01915, USA
    Genomics 77:2-4. 2001
    ..Deletion of the 2q37 region has been implicated in the expression of pseudopseudohypoparathyroidism (PPHP), a disease which shares features of the Albright hereditary osteodystrophy (AHO) phenotype...
  88. ncbi Albright's hereditary osteodystrophy
    Seema Kapoor
    Division of Genetics, Department of Pediatrics, Maulana Azad Medical College, Lok Nayak Hospital, New Delhi, India
    Indian J Pediatr 73:153-6. 2006
    ..We report here the variable inheritance of hormone resistance in the presence of characteristic phenotype and reduced Gs alpha activity in the same family...
  89. pmc Familial growth hormone releasing factor deficiency in pseudopseudohypoparathyroidism
    H F Stirling
    Department of Child Life and Health, University of Edinburgh
    Arch Dis Child 66:533-5. 1991
    A mother with pseudopseudohypoparathyroidism and her short son showed poor spontaneous growth hormone secretion, and provocation tests suggested a deficiency of growth hormone releasing factor...
  90. ncbi [Hypoparathyroidism, pseudohypoparathyroidism and pseudo-pseudohypoparathyroidism. Stimulation with human parathyroid hormone]
    T Balslev
    paediatrisk afdeling, Randers Centralsygehus
    Ugeskr Laeger 153:1134-5. 1991
    ..The method is described. The differential diagnosis of hypoparathyroid conditions is illustrated by three case histories: hypoparathyroidism, pseudohypoparathyroidism and pseudopseudohypoparathyroidism. All three patients are children.
  91. ncbi Endocrine and molecular biological studies in a German family with Albright hereditary osteodystrophy
    V Schuster
    Department of Paediatrics, University of Wurzburg, Federal Republic of Germany
    Eur J Pediatr 152:185-9. 1993
    ..and calcifications of subcutaneous tissue, heart and brain, whereas all other four members with pseudopseudohypoparathyroidism (pseudo-PHP) showed only subcutaneous calcifications and brachymetaphalangia...
  92. ncbi Different mutations within or upstream of the GNAS locus cause distinct forms of pseudohypoparathyroidism
    Harald Juppner
    Endocrine Unit, Massachusetts General Hospital and Harvard Medical School, Boston, MA 02114, USA
    J Pediatr Endocrinol Metab 19:641-6. 2006
    ....
  93. ncbi Albright's hereditary osteodystrophy associated with cerebellar pilocytic astrocytoma: coincidence or genetic relationship?
    S B Sobottka
    Department of Neurosurgery, Technical University of Dresden, Fetscherstrasse 74, D 01307 Dresden, Germany
    Horm Res 55:196-200. 2001
    ..5-year-old girl, with classic AHO phenotype and PHP type 1A associated with a cerebellar pilocytic astrocytoma. Coincidence or genetic relationships of both diseases are discussed according to molecular findings and current literature...
  94. ncbi Albright hereditary osteodystrophy and del(2) (q37.3) in four unrelated individuals
    M C Phelan
    Greenwood Genetic Center, South Carolina, USA
    Am J Med Genet 58:1-7. 1995
    ..obesity, round face, brachydactyly) but variable biochemical changes (pseudohypoparathyroidism, pseudopseudohypoparathyroidism)...

Research Grants5

  1. Characterization of the "Gs-like" activity of Xlas
    Murat Bastepe; Fiscal Year: 2005
    ..These studies will be helpful in clarifying the biological roles of XLalphas, and may furthermore improve the current understanding of the GNASl-related disorders. ..
  2. Alzheimre's disease antiamyloid neuroprotective tmt
    Bala Manyam; Fiscal Year: 2003
    ..abstract_text> ..
  3. CONSTITUTIVELY ACTIVE PTH/PTHRP RECEPTORS IN VIVO
    HARALD JUEPPNER; Fiscal Year: 2003
    ..In Aim 3, we plan to search for additional PTH1R mutations in JMC patients and to assess in these and previously characterized individuals the changes in trabecular and cortical bone formation. ..
  4. PARKINSON DISEASE NEUROPROTECTION CLINICAL TRIAL CENTER
    Bala Manyam; Fiscal Year: 2005
    ..abstract_text> ..
  5. IDENTIFICATION OF NOVEL PHOSPHATE REGULATORS
    HARALD JUEPPNER; Fiscal Year: 2007
    ..unreadable] [unreadable] [unreadable]..