pseudohypoparathyroidism

Summary

Summary: A hereditary syndrome clinically similar to HYPOPARATHYROIDISM. It is characterized by HYPOCALCEMIA; HYPERPHOSPHATEMIA; and associated skeletal development impairment and caused by failure of response to PARATHYROID HORMONE rather than deficiencies. A severe form with resistance to multiple hormones is referred to as Type 1a and is associated with maternal mutant allele of the ALPHA CHAIN OF STIMULATORY G PROTEIN.

Top Publications

  1. Miric A, Vechio J, Levine M. Heterogeneous mutations in the gene encoding the alpha-subunit of the stimulatory G protein of adenylyl cyclase in Albright hereditary osteodystrophy. J Clin Endocrinol Metab. 1993;76:1560-8 pubmed
    ..We conclude that heterogeneous mutations in the gene encoding Gs alpha, including deletions and single amino acid substitutions, are responsible for Gs alpha deficiency in AHO. ..
  2. Lim S, Poh L, Cowell C, Tey B, Loke K. Mutational analysis of the GNAS1 exons encoding the stimulatory G protein in five patients with pseudohypoparathyroidism type 1a. J Pediatr Endocrinol Metab. 2002;15:259-68 pubmed
    We analyzed the GNAS1 gene in five patients with pseudohypoparathyroidism type 1a (PHP1a) by performing polymerase chain reaction, followed by sequencing all 13 exons of the gene, single-stranded conformational polymorphism (SSCP) or ..
  3. Fernandez Rebollo E, Garcia Cuartero B, Garin I, Largo C, Martinez F, Garcia Lacalle C, et al. Intragenic GNAS deletion involving exon A/B in pseudohypoparathyroidism type 1A resulting in an apparent loss of exon A/B methylation: potential for misdiagnosis of pseudohypoparathyroidism type 1B. J Clin Endocrinol Metab. 2010;95:765-71 pubmed publisher
    Several endocrine diseases that share resistance to PTH are grouped under the term pseudohypoparathyroidism (PHP)...
  4. Mantovani G, de Sanctis L, Barbieri A, Elli F, Bollati V, Vaira V, et al. Pseudohypoparathyroidism and GNAS epigenetic defects: clinical evaluation of albright hereditary osteodystrophy and molecular analysis in 40 patients. J Clin Endocrinol Metab. 2010;95:651-8 pubmed publisher
    The two main subtypes of pseudohypoparathyroidism (PHP), PHP-Ia and -Ib, are caused by mutations in GNAS exons 1-13 and methylation defects in the imprinted GNAS cluster, respectively...
  5. Elli F, deSanctis L, Ceoloni B, Barbieri A, Bordogna P, Beck Peccoz P, et al. Pseudohypoparathyroidism type Ia and pseudo-pseudohypoparathyroidism: the growing spectrum of GNAS inactivating mutations. Hum Mutat. 2013;34:411-6 pubmed publisher
    b>Pseudohypoparathyroidism (PHP) is a rare heterogeneous genetic disorder characterized by end-organ resistance to parathyroid hormone due to partial deficiency of the ? subunit of the stimulatory G protein (Gs?), encoded by the GNAS gene...
  6. Sun L, Cui B, Zhao H, Tao B, Wang W, Li X, et al. Identification of a novel GNAS mutation for pseudohypoparathyroidism in a Chinese family. Endocrine. 2009;36:25-9 pubmed publisher
    b>Pseudohypoparathyroidism (PHP) is a heterogeneous group of diseases characterized by hormone resistance to receptors that stimulate adenylate cyclase...
  7. Gelfand I, Eugster E, DiMeglio L. Presentation and clinical progression of pseudohypoparathyroidism with multi-hormone resistance and Albright hereditary osteodystrophy: a case series. J Pediatr. 2006;149:877-880 pubmed
    Anthropometric and biochemical features were retrospectively evaluated in 12 patients with pseudohypoparathyroidism, Albright hereditary osteodystrophy, and multi-hormone resistance...
  8. Elli F, de Sanctis L, Bollati V, Tarantini L, Filopanti M, Barbieri A, et al. Quantitative analysis of methylation defects and correlation with clinical characteristics in patients with pseudohypoparathyroidism type I and GNAS epigenetic alterations. J Clin Endocrinol Metab. 2014;99:E508-17 pubmed publisher
    b>Pseudohypoparathyroidism type I (PHP-I) includes two main subtypes, PHP-Ia and -Ib...
  9. Thiele S, de Sanctis L, Werner R, Grötzinger J, Aydin C, Juppner H, et al. Functional characterization of GNAS mutations found in patients with pseudohypoparathyroidism type Ic defines a new subgroup of pseudohypoparathyroidism affecting selectively Gs?-receptor interaction. Hum Mutat. 2011;32:653-60 pubmed publisher
    b>Pseudohypoparathyroidism type Ia (PHPIa) is caused by GNAS mutations leading to deficiency of the ?-subunit of stimulatory G proteins (Gs?) that mediate signal transduction of G protein-coupled receptors via cAMP...

More Information

Publications80

  1. Davies S, Hughes H. Imprinting in Albright's hereditary osteodystrophy. J Med Genet. 1993;30:101-3 pubmed
    ..Full expression of the gene (AHO + hormone resistance, pseudohypoparathyroidism) occurs in maternally transmitted cases and partial expression (AHO alone) when the gene is inherited ..
  2. Makita N, Sato J, Rondard P, Fukamachi H, Yuasa Y, Aldred M, et al. Human G(salpha) mutant causes pseudohypoparathyroidism type Ia/neonatal diarrhea, a potential cell-specific role of the palmitoylation cycle. Proc Natl Acad Sci U S A. 2007;104:17424-9 pubmed
    b>Pseudohypoparathyroidism type Ia (PHP-Ia) results from the loss of one allele of G(salpha), causing resistance to parathyroid hormone and other hormones that transduce signals via G(s)...
  3. Liu J, Erlichman B, Weinstein L. The stimulatory G protein alpha-subunit Gs alpha is imprinted in human thyroid glands: implications for thyroid function in pseudohypoparathyroidism types 1A and 1B. J Clin Endocrinol Metab. 2003;88:4336-41 pubmed
    ..G(s)alpha null mutations only lead to PTH, TSH, and gonadotropin resistance when inherited maternally [pseudohypoparathyroidism type 1A; (PHP1A)]...
  4. Maupetit Méhouas S, Mariot V, Reynès C, Bertrand G, Feillet F, Carel J, et al. Quantification of the methylation at the GNAS locus identifies subtypes of sporadic pseudohypoparathyroidism type Ib. J Med Genet. 2011;48:55-63 pubmed publisher
    b>Pseudohypoparathyroidism type Ib (PHP-Ib) is due to epigenetic changes at the imprinted GNAS locus, including loss of methylation at the A/B differentially methylated region (DMR) and sometimes at the XL and AS DMRs and gain of ..
  5. Linglart A, Carel J, Garabedian M, Le T, Mallet E, Kottler M. GNAS1 lesions in pseudohypoparathyroidism Ia and Ic: genotype phenotype relationship and evidence of the maternal transmission of the hormonal resistance. J Clin Endocrinol Metab. 2002;87:189-97 pubmed
    ..of G(s) (GNAS1) in 30 subjects (21 unrelated families) with Albright's hereditary osteodystrophy (AHO), pseudohypoparathyroidism (PHP); and decreased erythrocyte G(s) activity (PHP-Ia; n = 19); AHO and decreased erythrocyte G(s) ..
  6. Adegbite N, Xu M, Kaplan F, Shore E, Pignolo R. Diagnostic and mutational spectrum of progressive osseous heteroplasia (POH) and other forms of GNAS-based heterotopic ossification. Am J Med Genet A. 2008;146A:1788-96 pubmed publisher
    ..However, occasional patients with AHO and pseudohypoparathyroidism 1a/c (PHP1a/c; AHO features plus hormone resistance) have also been described who have progressive HO...
  7. Dixit A, Chandler K, Lever M, Poole R, Bullman H, Mughal M, et al. Pseudohypoparathyroidism type 1b due to paternal uniparental disomy of chromosome 20q. J Clin Endocrinol Metab. 2013;98:E103-8 pubmed publisher
    b>Pseudohypoparathyroidism type 1b (PHP1b) is the result of end-organ resistance to PTH and other hormones such as TSH in the absence of any features of Albright's hereditary osteodystrophy...
  8. Srivastava T, Alon U. Stage I vitamin D-deficiency rickets mimicking pseudohypoparathyroidism type II. Clin Pediatr (Phila). 2002;41:263-8 pubmed
    The clinical presentation and biochemical features of stage I vitamin D-deficiency rickets (VDR) and pseudohypoparathyroidism (PHP) type II are quite similar. These 2 entities have therefore often been mistaken for one another...
  9. Park C, Park H, Lee S, Kim J, Sohn Y, Park S, et al. Clinical, biochemical, and genetic analysis of korean patients with pseudohypoparathyroidism type Ia. Ann Clin Lab Sci. 2010;40:261-6 pubmed
    b>Pseudohypoparathyroidism (PHP) comprises a heterogeneous group of endocrine disorders with the common feature of resistance to parathormone (PTH), manifested by hypocalcemia, hyperphosphatemia, and elevation of serum PTH despite normal ..
  10. Qu L, Zhang T, Mu Y. [Clinical analysis of 15 cases of pseudohypoparathyroidism]. Nan Fang Yi Ke Da Xue Xue Bao. 2012;32:685-6 pubmed
    To analyze the clinical characteristics, diagnosis and treatment of pseudohypoparathyroidism (PHP).
  11. Unluturk U, Harmanci A, Babaoglu M, Yasar U, Varli K, Bastepe M, et al. Molecular diagnosis and clinical characterization of pseudohypoparathyroidism type-Ib in a patient with mild Albright's hereditary osteodystrophy-like features, epileptic seizures, and defective renal handling of uric acid. Am J Med Sci. 2008;336:84-90 pubmed publisher
    ..In addition, the patient showed a reduced serum level of 25-[OH]-vitamin D. The diagnosis of pseudohypoparathyroidism type-Ib (PHP-Ib) was made based on these clinical findings and upon identification of a 3-kb deletion ..
  12. Fernandez Rebollo E, Maeda A, Reyes M, Turan S, Fröhlich L, Plagge A, et al. Loss of XL?s (extra-large ?s) imprinting results in early postnatal hypoglycemia and lethality in a mouse model of pseudohypoparathyroidism Ib. Proc Natl Acad Sci U S A. 2012;109:6638-43 pubmed publisher
    ..region (DMR) (delNESP55/ASdel3-4(m), delNAS(m)) from the GNAS locus in humans causes autosomal dominant pseudohypoparathyroidism type Ib (AD-PHP-Ib(delNASm)), a disorder of proximal tubular parathyroid hormone (PTH) resistance ..
  13. Mantovani G, Bondioni S, Linglart A, Maghnie M, Cisternino M, Corbetta S, et al. Genetic analysis and evaluation of resistance to thyrotropin and growth hormone-releasing hormone in pseudohypoparathyroidism type Ib. J Clin Endocrinol Metab. 2007;92:3738-42 pubmed
    b>Pseudohypoparathyroidism (PHP) types Ia and Ib, are caused by mutations in GNAS exons 1-13 and GNAS methylation defects, respectively...
  14. de Nanclares G, Fernandez Rebollo E, Santin I, Garcia Cuartero B, Gaztambide S, Menéndez E, et al. Epigenetic defects of GNAS in patients with pseudohypoparathyroidism and mild features of Albright's hereditary osteodystrophy. J Clin Endocrinol Metab. 2007;92:2370-3 pubmed
    Several endocrine disorders that share resistance to PTH are grouped under the term pseudohypoparathyroidism (PHP)...
  15. Elli F, de Sanctis L, Peverelli E, Bordogna P, Pivetta B, Miolo G, et al. Autosomal dominant pseudohypoparathyroidism type Ib: a novel inherited deletion ablating STX16 causes loss of imprinting at the A/B DMR. J Clin Endocrinol Metab. 2014;99:E724-8 pubmed publisher
    b>Pseudohypoparathyroidism type Ib (PHP-Ib) is a rare imprinting disorder characterized by end-organ resistance to PTH and, frequently, to thyroid-stimulating hormone...
  16. Liu J, Nealon J, Weinstein L. Distinct patterns of abnormal GNAS imprinting in familial and sporadic pseudohypoparathyroidism type IB. Hum Mol Genet. 2005;14:95-102 pubmed
    b>Pseudohypoparathyroidism type IB (PHPIB) is associated with abnormal imprinting of GNAS, the gene encoding the heterotrimeric G protein Gsalpha and other alternative products...
  17. Germain Lee E, Groman J, Crane J, Jan De Beur S, Levine M. Growth hormone deficiency in pseudohypoparathyroidism type 1a: another manifestation of multihormone resistance. J Clin Endocrinol Metab. 2003;88:4059-69 pubmed
    ..g. PTH, TSH, LH, FSH), a variant termed pseudohypoparathyroidism (PHP) type 1a, due to paternal imprinting of G alpha(s) transcripts in specific tissues...
  18. Mantovani G, Maghnie M, Weber G, De Menis E, Brunelli V, Cappa M, et al. Growth hormone-releasing hormone resistance in pseudohypoparathyroidism type ia: new evidence for imprinting of the Gs alpha gene. J Clin Endocrinol Metab. 2003;88:4070-4 pubmed
    ..with the observation that only maternally inherited mutations lead to resistance to hormone action [pseudohypoparathyroidism type Ia (PHP Ia)], recent studies provided evidence for a predominant maternal origin of Gs alpha ..
  19. Bastepe M, Lane A, Juppner H. Paternal uniparental isodisomy of chromosome 20q--and the resulting changes in GNAS1 methylation--as a plausible cause of pseudohypoparathyroidism. Am J Hum Genet. 2001;68:1283-9 pubmed
    ..3) that encode the alpha-subunit of the stimulatory G protein (Gsalpha) are found in patients with pseudohypoparathyroidism type Ia (PHP-Ia) and in patients with pseudo-pseudohypoparathyroidism (pPHP)...
  20. Ahrens W, Hiort O, Staedt P, Kirschner T, Marschke C, Kruse K. Analysis of the GNAS1 gene in Albright's hereditary osteodystrophy. J Clin Endocrinol Metab. 2001;86:4630-4 pubmed
    ..of the gene GNAS1 encoding Gsalpha lead to a reduced Gsalpha protein activity in patients with AHO and pseudohypoparathyroidism type Ia or without resistance to PTH (pseudopseudohypoparathyroidism)...
  21. Richard N, Abeguilé G, Coudray N, Mittre H, Gruchy N, Andrieux J, et al. A new deletion ablating NESP55 causes loss of maternal imprint of A/B GNAS and autosomal dominant pseudohypoparathyroidism type Ib. J Clin Endocrinol Metab. 2012;97:E863-7 pubmed publisher
    Patients with pseudohypoparathyroidism type Ib (PHP-1b) develop resistance toward PTH, leading to hypocalcemia and hyperphosphatemia...
  22. Wu W, Schwindinger W, Aparicio L, Levine M. Selective resistance to parathyroid hormone caused by a novel uncoupling mutation in the carboxyl terminus of G alpha(s). A cause of pseudohypoparathyroidism type Ib. J Biol Chem. 2001;276:165-71 pubmed
    ..Inactivation of one GNAS1 gene allele encoding the alpha chain of G(s) (G alpha(s)) causes pseudohypoparathyroidism type Ia...
  23. Fernandez Rebollo E, Lecumberri B, Garin I, Arroyo J, Bernal Chico A, Goni F, et al. New mechanisms involved in paternal 20q disomy associated with pseudohypoparathyroidism. Eur J Endocrinol. 2010;163:953-62 pubmed publisher
    Type I pseudohypoparathyroidism (PHP-I) can be subclassified into Ia and Ib, depending on the presence or absence of Albright's hereditary osteodystrophy's phenotype, diminished ?-subunit of the stimulatory G protein (G(s)?) activity and ..
  24. Puzhko S, Goodyer C, Kerachian M, Canaff L, Misra M, Juppner H, et al. Parathyroid hormone signaling via G?s is selectively inhibited by an NH(2)-terminally truncated G?s: implications for pseudohypoparathyroidism. J Bone Miner Res. 2011;26:2473-85 pubmed publisher
    ..These differences mimic the spectrum of hormone resistance in pseudohypoparathyroidism type 1a (PHP-1a) and type 1b (PHP-1b) patients...
  25. Shalitin S, Davidovits M, Lazar L, Weintrob N. Clinical heterogeneity of pseudohypoparathyroidism: from hyper- to hypocalcemia. Horm Res. 2008;70:137-44 pubmed publisher
    b>Pseudohypoparathyroidism (PHP) is a rare inherited syndrome characterized by parathyroid hormone (PTH) resistance and is frequently associated with Albright's hereditary osteodystrophy and resistance to other cAMP-mediated hormones...
  26. Craigen W, Lindsay E, Bricker J, Hawkins E, Baldini A. Deletion of chromosome 22q11 and pseudohypoparathyroidism. Am J Med Genet. 1997;72:63-5 pubmed
    ..repeatedly elevated or normal levels of parathyroid hormone were found, consistent with a diagnosis of pseudohypoparathyroidism. Pseudohypoparathyroidism can be due to mutation of a GTP binding protein (Gs-alpha protein) located on ..
  27. de Sanctis C, Lala R, Matarazzo P, Andreo M, de Sanctis L. Pubertal development in patients with McCune-Albright syndrome or pseudohypoparathyroidism. J Pediatr Endocrinol Metab. 2003;16 Suppl 2:293-6 pubmed
    Gain or loss of function mutations of the GNAS1 gene lead to McCune-Albright syndrome (MAS) or pseudohypoparathyroidism Ia (PHP-Ia), respectively...
  28. Thiele S, Werner R, Ahrens W, Hoppe U, Marschke C, Staedt P, et al. A disruptive mutation in exon 3 of the GNAS gene with albright hereditary osteodystrophy, normocalcemic pseudohypoparathyroidism, and selective long transcript variant Gsalpha-L deficiency. J Clin Endocrinol Metab. 2007;92:1764-8 pubmed
    ..Heterozygous inactivating maternally inherited mutations of GNAS lead to a phenotype in which Albright hereditary osteodystrophy is associated with pseudohypoparathyroidism type Ia.
  29. Todorova Koteva K, Wood K, Imam S, Jaume J. Screening for parathyroid hormone resistance in patients with nonphenotypically evident pseudohypoparathyroidism. Endocr Pract. 2012;18:864-9 pubmed publisher
    ..The idiopathic and inherited forms of PTH resistance are referred to as pseudohypoparathyroidism. Nonphenotypically evident pseudohypoparathyroidism can go undiagnosed for decades...
  30. Jan de Beur S, Ding C, Germain Lee E, Cho J, Maret A, Levine M. Discordance between genetic and epigenetic defects in pseudohypoparathyroidism type 1b revealed by inconsistent loss of maternal imprinting at GNAS1. Am J Hum Genet. 2003;73:314-22 pubmed
    Although the molecular basis of pseudohypoparathyroidism type 1b (PHP type 1b) remains unknown, a defect in imprinting at the GNAS1 locus has been suggested by the consistent finding of paternal-specific patterns of DNA methylation on ..
  31. Wemeau J, Balavoine A, Ladsous M, Velayoudom Cephise F, Vlaeminck Guillem V. Multihormonal resistance to parathyroid hormone, thyroid stimulating hormone, and other hormonal and neurosensory stimuli in patients with pseudohypoparathyroidism. J Pediatr Endocrinol Metab. 2006;19 Suppl 2:653-61 pubmed
    In patients with pseudohypoparathyroidism, hormonal resistance first affects parathyroid hormone (PTH), which leads to calcipenia, a decrease in renal vitamin D activation, and a tendency to bone receptor remodeling...
  32. Kapoor D, Agrawal N, Aggarwal R, Sahoo A, Singh S. Vitamin D deficiency masquerading as pseudohypoparathyoidism type 2. J Assoc Physicians India. 2005;53:999-1000; author reply 1000 pubmed
  33. Shriraam M, Bhansali A, Velayutham P. Vitamin D deficiency masquerading as pseudohypoparathyroidism type 2. J Assoc Physicians India. 2003;51:619-20 pubmed
    ..presented with hypocalcemia, hyperphosphatemia with increased tubular reabsorption of phosphate mimicking pseudohypoparathyroidism type 2, is reported...
  34. Izzi B, Van Geet C, Freson K. Recent advances in GNAS epigenetic research of pseudohypoparathyroidism. Curr Mol Med. 2012;12:566-73 pubmed
    ..and hyperphosphatemia that share resistance to parathyroid hormone (PTH) are grouped under the term pseudohypoparathyroidism (PHP)...
  35. Ahmed S, Dixon P, Bonthron D, Stirling H, Barr D, Kelnar C, et al. GNAS1 mutational analysis in pseudohypoparathyroidism. Clin Endocrinol (Oxf). 1998;49:525-31 pubmed
    ..encodes the alpha-subunit of the stimulatory GTP-binding protein, have been identified in patients with pseudohypoparathyroidism type Ia (PHPIa) and pseudopseudohypoparathyroidism (PPHP)...
  36. Bastepe M, Fröhlich L, Hendy G, Indridason O, Josse R, Koshiyama H, et al. Autosomal dominant pseudohypoparathyroidism type Ib is associated with a heterozygous microdeletion that likely disrupts a putative imprinting control element of GNAS. J Clin Invest. 2003;112:1255-63 pubmed
    Patients with pseudohypoparathyroidism type Ib (PHP-Ib) have hypocalcemia and hyperphosphatemia due to renal parathyroid hormone (PTH) resistance, but lack physical features of Albright hereditary osteodystrophy...
  37. Bastepe M, Altug Teber O, Agarwal C, Oberfield S, Bonin M, Juppner H. Paternal uniparental isodisomy of the entire chromosome 20 as a molecular cause of pseudohypoparathyroidism type Ib (PHP-Ib). Bone. 2011;48:659-62 pubmed publisher
  38. Chillambhi S, Turan S, Hwang D, Chen H, Juppner H, Bastepe M. Deletion of the noncoding GNAS antisense transcript causes pseudohypoparathyroidism type Ib and biparental defects of GNAS methylation in cis. J Clin Endocrinol Metab. 2010;95:3993-4002 pubmed publisher
    ..Most patients with pseudohypoparathyroidism type Ib (PHP-Ib) exhibit imprinting defects affecting the maternal GNAS allele, which are thought to ..
  39. Bastepe M, Juppner H. Editorial: Pseudohypoparathyroidism and mechanisms of resistance toward multiple hormones: molecular evidence to clinical presentation. J Clin Endocrinol Metab. 2003;88:4055-8 pubmed
  40. Sanchez J, Perera E, Jan de Beur S, Ding C, Dang A, Berkovitz G, et al. Madelung-like deformity in pseudohypoparathyroidism type 1b. J Clin Endocrinol Metab. 2011;96:E1507-11 pubmed publisher
    b>Pseudohypoparathyroidism (PHP) types 1a and 1b are distinguished by clinical, biochemical, and molecular features...
  41. Nwosu B, Lee M. Pseudohypoparathyroidism type 1a and insulin resistance in a child. Nat Rev Endocrinol. 2009;5:345-50 pubmed publisher
    ..Diagnosis. Pseudohypoparathyroidism type 1a in a patient with Albright hereditary osteodystrophy, characterized by hypocalcemia, ..
  42. Schipani E, Weinstein L, Bergwitz C, Iida Klein A, Kong X, Stuhrmann M, et al. Pseudohypoparathyroidism type Ib is not caused by mutations in the coding exons of the human parathyroid hormone (PTH)/PTH-related peptide receptor gene. J Clin Endocrinol Metab. 1995;80:1611-21 pubmed
    b>Pseudohypoparathyroidism type Ib (PHP-Ib) is thought to be caused by a PTH/PTH-related peptide (PTHrP) receptor defect...
  43. Weinhaeusel A, Thiele S, Hofner M, Hiort O, Noehammer C. PCR-based analysis of differentially methylated regions of GNAS enables convenient diagnostic testing of pseudohypoparathyroidism type Ib. Clin Chem. 2008;54:1537-45 pubmed publisher
    b>Pseudohypoparathyroidism type Ib (PHPIb) is characterized by parathyroid hormone (PTH) resistance, which can lead to hypocalcemia, hyperphosphatemia, and increased serum PTH...
  44. Linglart A, Gensure R, Olney R, Juppner H, Bastepe M. A novel STX16 deletion in autosomal dominant pseudohypoparathyroidism type Ib redefines the boundaries of a cis-acting imprinting control element of GNAS. Am J Hum Genet. 2005;76:804-14 pubmed
    ..of GNAS, was previously identified in multiple unrelated kindreds as a cause of autosomal dominant pseudohypoparathyroidism type Ib (AD-PHP-Ib). We now report a novel heterozygous 4...
  45. Agarwal C, Seigle R, Agarwal S, Bilezikian J, Hyman J, Oberfield S. Pseudohypoparathyroidism: a rare cause of bilateral slipped capital femoral epiphysis. J Pediatr. 2006;149:406-8 pubmed
    b>Pseudohypoparathyroidism (PHP) type 1b is a rare childhood disorder characterized by renal resistance to parathyroid hormone (PTH) resulting in biochemical hypoparathyroidism but with skeletal sensitivity to PTH...
  46. Maeda S, Fortes E, Oliveira U, Borba V, Lazaretti Castro M. Hypoparathyroidism and pseudohypoparathyroidism. Arq Bras Endocrinol Metabol. 2006;50:664-73 pubmed
    ..by the parathyroids (hypoparathyroidism), or a resistance against its action in target tissues (pseudohypoparathyroidism)...
  47. Thiele S, Werner R, Ahrens W, Hubner A, Hinkel K, Hoppner W, et al. Selective deficiency of Gsalpha and the possible role of alternative gene products of GNAS in Albright hereditary osteodystrophy and pseudohypoparathyroidism type Ia. Exp Clin Endocrinol Diabetes. 2010;118:127-32 pubmed publisher
    Albright hereditary osteodystrophy (AHO) and Pseudohypoparathyroidism type Ia (PHPIa) are caused by an inherited deficiency of Gsalpha, encoded by the GNAS gene...
  48. Germain Lee E, Ding C, Deng Z, Crane J, Saji M, Ringel M, et al. Paternal imprinting of Galpha(s) in the human thyroid as the basis of TSH resistance in pseudohypoparathyroidism type 1a. Biochem Biophys Res Commun. 2002;296:67-72 pubmed
    ..g., PTH, TSH), a variant termed pseudohypoparathyroidism (PHP) type 1a, due to presumed tissue-specific paternal imprinting of the alpha chain of G(s) as ..
  49. Fernandez Rebollo E, Barrio R, Pérez Nanclares G, Carcavilla A, Garin I, Castano L, et al. New mutation type in pseudohypoparathyroidism type Ia. Clin Endocrinol (Oxf). 2008;69:705-12 pubmed publisher
    ..mutations, amino acid substitutions, nonsense mutations, splice site mutations and small insertions or deletions) lead to a phenotype in which Albright hereditary osteodystrophy is associated with pseudohypoparathyroidism type Ia.
  50. Tamada Y, Kanda S, Suzuki H, Tajima T, Nishiyama T. A pseudohypoparathyroidism type Ia patient with normocalcemia. Endocr J. 2008;55:169-73 pubmed
    b>Pseudohypoparathyroidism type Ia (PHP-Ia), one of 4 types of PHP, is a genetic disease characterized by clinical hypoparathyroidism caused by parathyroid hormone (PTH) resistance...
  51. Jin H, Lee B, Choi J, Kim G, Kim J, Lee J, et al. Clinical characterization and identification of two novel mutations of the GNAS gene in patients with pseudohypoparathyroidism and pseudopseudohypoparathyroidism. Clin Endocrinol (Oxf). 2011;75:207-13 pubmed publisher
    b>Pseudohypoparathyroidism (PHP) and pseudopseudohypoparathyroidism (PPHP) are rare disorders resulting from genetic and epigenetic aberrations in the GNAS locus.
  52. de Sanctis L, Vai S, Andreo M, Romagnolo D, Silvestro L, de Sanctis C. Brachydactyly in 14 genetically characterized pseudohypoparathyroidism type Ia patients. J Clin Endocrinol Metab. 2004;89:1650-5 pubmed
    ..specific sign of Albright's hereditary osteodystrophy, a peculiar phenotype reported in subjects with pseudohypoparathyroidism type Ia (PHP-Ia) caused by mutations in the GNAS gene, which encodes for the alpha-subunit of the ..
  53. Akin L, Kurtoglu S, Yildiz A, Akin M, Kendirici M. Vitamin D deficiency rickets mimicking pseudohypoparathyroidism. J Clin Res Pediatr Endocrinol. 2010;2:173-5 pubmed publisher
    ..b>Pseudohypoparathyroidism (PHP) is an inherited disorder characterized by end-organ resistance to parathormone (PTH)...
  54. Maupetit Méhouas S, Azzi S, Steunou V, Sakakini N, Silve C, Reynès C, et al. Simultaneous hyper- and hypomethylation at imprinted loci in a subset of patients with GNAS epimutations underlies a complex and different mechanism of multilocus methylation defect in pseudohypoparathyroidism type 1b. Hum Mutat. 2013;34:1172-80 pubmed publisher
    Most patients with pseudohypoparathyroidism type 1b (PHP-1b) display a loss of imprinting (LOI) encompassing the GNAS locus resulting in PTH resistance...
  55. Patten J, Johns D, Valle D, Eil C, Gruppuso P, Steele G, et al. Mutation in the gene encoding the stimulatory G protein of adenylate cyclase in Albright's hereditary osteodystrophy. N Engl J Med. 1990;322:1412-9 pubmed
    ..We conclude that in at least some patients with Albright's hereditary osteodystrophy, the disease is caused by a single-base substitution in the Gs alpha gene and is thus due to an inherited mutation in a human G protein...
  56. Fukumoto S, Suzawa M, Takeuchi Y, Kodama Y, Nakayama K, Ogata E, et al. Absence of mutations in parathyroid hormone (PTH)/PTH-related protein receptor complementary deoxyribonucleic acid in patients with pseudohypoparathyroidism type Ib. J Clin Endocrinol Metab. 1996;81:2554-8 pubmed
    To clarify the mechanism of resistance to PTH in patients with pseudohypoparathyroidism (PHP) type Ib, the complementary DNA (cDNA) for PTH/PTH-related protein (PTHrP) receptor was analyzed in skin fibroblasts from three patients with PHP ..
  57. Freson K, Thys C, Wittevrongel C, Proesmans W, Hoylaerts M, Vermylen J, et al. Pseudohypoparathyroidism type Ib with disturbed imprinting in the GNAS1 cluster and Gsalpha deficiency in platelets. Hum Mol Genet. 2002;11:2741-50 pubmed
    b>Pseudohypoparathyroidism Ib (PHPIb), characterized by parathyroid hormone-resistant hypocalcemia and hyperphosphatemia, is caused by a deregulation in the imprinting status of the GNAS1 cluster, comprising exons XL, NESP55 and 1A and the ..
  58. Long D, McGuire S, Levine M, Weinstein L, Germain Lee E. Body mass index differences in pseudohypoparathyroidism type 1a versus pseudopseudohypoparathyroidism may implicate paternal imprinting of Galpha(s) in the development of human obesity. J Clin Endocrinol Metab. 2007;92:1073-9 pubmed
    ..in certain hormone target tissues, maternal inheritance of AHO leads to multihormone resistance [pseudohypoparathyroidism type 1a (PHP1a)], whereas paternal inheritance leads to AHO alone [pseudopseudohypoparathyroidism (..
  59. Bastepe M, Juppner H. GNAS locus and pseudohypoparathyroidism. Horm Res. 2005;63:65-74 pubmed
    b>Pseudohypoparathyroidism (PHP) is characterized by hypocalcemia and hyperphosphatemia due to resistance to parathyroid hormone (PTH)...
  60. Bastepe M, Fröhlich L, Linglart A, Abu Zahra H, Tojo K, Ward L, et al. Deletion of the NESP55 differentially methylated region causes loss of maternal GNAS imprints and pseudohypoparathyroidism type Ib. Nat Genet. 2005;37:25-7 pubmed
    Epigenetic defects in the imprinted GNAS cluster are associated with pseudohypoparathyroidism type Ib...
  61. Bajpai A, Sharma J, Hari P, Bagga A. Pseudohypoparathyroidism presenting with bony deformities resembling rickets. Indian J Pediatr. 2004;71:345-8 pubmed
    b>Pseudohypoparathyroidism (PHP), characterized by hypocalcemia, hyperphosphatemia and elevated parathormone level, may rarely be associated with bony deformities resembling rickets...
  62. Mantovani G, Romoli R, Weber G, Brunelli V, De Menis E, Beccio S, et al. Mutational analysis of GNAS1 in patients with pseudohypoparathyroidism: identification of two novel mutations. J Clin Endocrinol Metab. 2000;85:4243-8 pubmed
    b>Pseudohypoparathyroidism (PHP) refers to two major variants that generally coexist in the same family, PHP type Ia (PHP Ia), in which both PTH resistance and a constellation of physical features, termed Albright's hereditary ..
  63. Zheng H, Radeva G, McCann J, Hendy G, Goodyer C. Galphas transcripts are biallelically expressed in the human kidney cortex: implications for pseudohypoparathyroidism type 1b. J Clin Endocrinol Metab. 2001;86:4627-9 pubmed
    ..These data implicate abnormal imprinting of alternative regions within the GNAS1 locus as a more likely cause of pseudohypoparathyroid type 1b...
  64. Juppner H, Schipani E, Bastepe M, Cole D, Lawson M, Mannstadt M, et al. The gene responsible for pseudohypoparathyroidism type Ib is paternally imprinted and maps in four unrelated kindreds to chromosome 20q13.3. Proc Natl Acad Sci U S A. 1998;95:11798-803 pubmed
    ..caused by parathyroid hormone (PTH)-resistance are the only discernible abnormalities in pseudohypoparathyroidism type Ib (PHP-Ib)...
  65. de Sanctis L, Romagnolo D, Olivero M, Buzi F, Maghnie M, Scirè G, et al. Molecular analysis of the GNAS1 gene for the correct diagnosis of Albright hereditary osteodystrophy and pseudohypoparathyroidism. Pediatr Res. 2003;53:749-55 pubmed
    b>Pseudohypoparathyroidism (PHP) is a heterogeneous disease characterized by PTH resistance and classified as types Ia, Ib, Ic, and II, according to its different pathogenesis and phenotype...
  66. Poomthavorn P, Zacharin M. Early manifestation of obesity and calcinosis cutis in infantile pseudohypoparathyroidism. J Paediatr Child Health. 2006;42:821-3 pubmed
    b>Pseudohypoparathyroidism is a parathyroid hormone resistance condition, characterised by biochemical findings of hypocalcaemia or normocalcaemia with inappropriately elevated parathyroid hormone level and usually with a typical ..
  67. Okada K, Iida K, Sakusabe N, Saitoh H, Abe E, Sato K. Pseudohypoparathyroidism-associated spinal stenosis. Spine (Phila Pa 1976). 1994;19:1186-9 pubmed
    b>Pseudohypoparathyroidism associated with disorders of the spine is rarely reported...
  68. Ishikawa Y, Tajima T, Nakae J, Nagashima T, Satoh K, Okuhara K, et al. Two mutations of the Gsalpha gene in two Japanese patients with sporadic pseudohypoparathyroidism type Ia. J Hum Genet. 2001;46:426-30 pubmed
    b>Pseudohypoparathyroidism Ia (PHP-Ia), is an inherited disease with clinical hypoparathyroidism caused by parathyroid hormone resistance (PTH), and shows the phenotype of Albright hereditary osteodystrophy (AHO), including short stature, ..
  69. Alsum Z, Abu Safieh L, Nygren A, Al Hamed M, Alkuraya F. Methylation-specific multiplex-ligation-dependent probe amplification as a rapid molecular diagnostic tool for pseudohypoparathyroidism type 1b. Genet Test Mol Biomarkers. 2010;14:135-9 pubmed publisher
    b>Pseudohypoparathyroidism type 1b (PHP1b) is a rare metabolic bone disorder characterized by isolated renal parathyroid hormone resistance...
  70. Mantovani G, Elli F, Spada A. GNAS epigenetic defects and pseudohypoparathyroidism: time for a new classification?. Horm Metab Res. 2012;44:716-23 pubmed publisher
    b>Pseudohypoparathyroidism-Ia and -Ib (PHP-Ia and -Ib) are caused by mutations in GNAS exons 1-13 and methylation defects in the imprinted GNAS cluster, respectively...
  71. Levine M. An update on the clinical and molecular characteristics of pseudohypoparathyroidism. Curr Opin Endocrinol Diabetes Obes. 2012;19:443-51 pubmed publisher
    To provide the reader with a review of contemporary literature describing the evolving understanding of the molecular pathobiology of pseudohypoparathyroidism (PHP).