Details of Disease

General Information of Disease (ID: DIS9LDXL)

Disease Name Pseudohypoparathyroidism type 1B
Synonyms Php 1B; pseudohypoparathyroidism, type 1B; pseudohypoparathyroidism, type IB; PHP1B; pseudohypoparathyroidism type IB; pseudohypoparathyroidism Ib
Definition
Pseudohypoparathyroidism type 1B (PHP-1b) is a type of pseudohypoparathyroidism (PHP) characterized by localized resistance to parathyroid hormone (PTH) mainly in the renal tissues which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels. About 60-70% of patients also present with elevated TSH levels due to TSH resistance.
Disease Hierarchy
DISSAFPH: Disorder of GNAS inactivation
DIS183OJ: Pseudohypoparathyroidism
DIS9LDXL: Pseudohypoparathyroidism type 1B
Disease Identifiers
MONDO ID
MONDO_0011301
MESH ID
D011547
UMLS CUI
C1864100
OMIM ID
603233
MedGen ID
350343
Orphanet ID
94089

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 5 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
PTHLH OTI1JF13 Limited Genetic Variation [1]
PHPT1 OTFYWNFX Disputed Genetic Variation [2]
PTRH1 OTOAOS93 Disputed Genetic Variation [3]
STX16 OTM7TAOE Strong Autosomal dominant [4]
GNAS OTMH8BKJ Definitive Autosomal dominant [5]
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References

1 Cloning and characterization of kidney-specific promoter of human PTH/PTHrP receptor gene: absence of mutation in patients with pseudohypoparathyroidism type Ib.Mol Cell Endocrinol. 1998 Jun 25;141(1-2):41-7. doi: 10.1016/s0303-7207(98)00092-6.
2 Pseudohypoparathyroidism. New insights into an old disease.Endocrinol Metab Clin North Am. 2000 Sep;29(3):569-89. doi: 10.1016/s0889-8529(05)70151-1.
3 A Homozygous [Cys25]PTH(1-84) Mutation That Impairs PTH/PTHrP Receptor Activation Defines a Novel Form of Hypoparathyroidism.J Bone Miner Res. 2015 Oct;30(10):1803-13. doi: 10.1002/jbmr.2532. Epub 2015 Jun 8.
4 Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.
5 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 Jan 5;276(1):165-71. doi: 10.1074/jbc.M006032200.