KEGG DISEASE: Pseudohypoparathyroidism

KEGG

DISEASE: Pseudohypoparathyroidism

Entry

H00244                      Disease

Name

Pseudohypoparathyroidism

Description

Pseudohypoparathyroidism refers to a heterogeneous group of autosomal dominant disorders characterized by hypocalcemia and hyperphosphatemia due to resistance to parathyroid hormone. The disease phenotype of type Ia is characterized by Albright hereditary osteodystrophy (AHO) and resistance PTH and many other hormones, while that of type Ib shows hypothyroidism due to resistance to TSH restricted to renal tubule cells.

Category

Endocrine and metabolic disease

Brite

Human diseases in ICD-11 classification [BR:br08403]
05 Endocrine, nutritional or metabolic diseases
  Endocrine diseases
   Disorders of the parathyroids or parathyroid hormone system
    5A50  Hypoparathyroidism
     H00244  Pseudohypoparathyroidism
Pathway-based classification of diseases [BR:br08402]
Endocrine system
  nt06318  CaSR-PTH signaling
   H00244  Pseudohypoparathyroidism

Pathway

Relaxin signaling pathway

GnRH signaling pathway

Oxytocin signaling pathway

Network

nt06318 CaSR-PTH signaling

Gene

(PHP1A/1B/1C) GNAS [HSA:2778] [KO:K04632]
(PHP1B) STX16 [HSA:8675] [KO:K08489]
(PHP1B) GNAS-AS1 [HSA:149775]

Other DBs

ICD-11:

ICD-10:

MeSH:

OMIM:

103580 603233 612462 612463

Reference

Authors

Mantovani G, Bondioni S, Linglart A, Maghnie M, Cisternino M, Corbetta S, Lania AG, Beck-Peccoz P, Spada A

Title

Genetic analysis and evaluation of resistance to thyrotropin and growth hormone-releasing hormone in pseudohypoparathyroidism type Ib.

Journal

J Clin Endocrinol Metab 92:3738-42 (2007)
DOI:10.1210/jc.2007-0869

Reference

Authors

Juppner H, Bastepe M

Title

Different mutations within or upstream of the GNAS locus cause distinct forms of pseudohypoparathyroidism.

Journal

J Pediatr Endocrinol Metab 19 Suppl 2:641-6 (2006)
DOI:10.1515/jpem.2006.19.s2.641

Reference

Authors

Bastepe M, Juppner H

Title

GNAS locus and pseudohypoparathyroidism.

Journal

Horm Res 63:65-74 (2005)
DOI:10.1159/000083895

Reference

PMID:2109828 (GNAS, PHP1A)

Authors

Patten JL, Johns DR, Valle D, Eil C, Gruppuso PA, Steele G, Smallwood PM, Levine MA

Title

Mutation in the gene encoding the stimulatory G protein of adenylate cyclase in Albright's hereditary osteodystrophy.

Journal

N Engl J Med 322:1412-9 (1990)
DOI:10.1056/NEJM199005173222002

Reference

PMID:11029463 (GNAS, PHP1B)

Authors

Wu WI, Schwindinger WF, Aparicio LF, Levine MA

Title

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.

Journal

J Biol Chem 276:165-71 (2001)
DOI:10.1074/jbc.M006032200

Reference

PMID:11788646 (GNAS, PHP1C)

Authors

Linglart A, Carel JC, Garabedian M, Le T, Mallet E, Kottler ML

Title

GNAS1 lesions in pseudohypoparathyroidism Ia and Ic: genotype phenotype relationship and evidence of the maternal transmission of the hormonal resistance.

Journal

J Clin Endocrinol Metab 87:189-97 (2002)
DOI:10.1210/jcem.87.1.8133

Reference

PMID:14561710 (STX16)

Authors

Bastepe M, Frohlich LF, Hendy GN, Indridason OS, Josse RG, Koshiyama H, Korkko J, Nakamoto JM, Rosenbloom AL, Slyper AH, Sugimoto T, Tsatsoulis A, Crawford JD, Juppner H

Title

Autosomal dominant pseudohypoparathyroidism type Ib is associated with a heterozygous microdeletion that likely disrupts a putative imprinting control element of GNAS.

Journal

J Clin Invest 112:1255-63 (2003)
DOI:10.1172/JCI19159

Reference

PMID:15592469 (GNAS-AS1)

Authors

Bastepe M, Frohlich LF, Linglart A, Abu-Zahra HS, Tojo K, Ward LM, Juppner H

Title

Deletion of the NESP55 differentially methylated region causes loss of maternal GNAS imprints and pseudohypoparathyroidism type Ib.

Journal

Nat Genet 37:25-7 (2005)
DOI:10.1038/ng1487

LinkDB

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