Details of Disease

General Information of Disease (ID: DISL5UEM)

Disease Name Pseudohypoparathyroidism type 1C
Synonyms Php 1C; pseudohypoparathyroidism, type 1C; pseudohypoparathyroidism, type IC; PHP1C; pseudohypoparathyroidism Ic
Definition
A rare type of pseudohypoparathyroidism (PHP) characterized by resistance to parathyroid hormone (PTH) and other hormones, which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels, a constellation of clinical features collectively termed Albright's hereditary osteodystrophy (AHO), but normal activity of the stimulatory protein G (Gs alpha).
Disease Hierarchy
DISSAFPH: Disorder of GNAS inactivation
DISMZUIT: Acromelic dysplasia
DISKV001: Osteonecrosis of genetic origin
DISYSRGS: Primary avascular necrosis
DIS183OJ: Pseudohypoparathyroidism
DISL5UEM: Pseudohypoparathyroidism type 1C
Disease Identifiers
MONDO ID
MONDO_0012911
MESH ID
C548076
UMLS CUI
C2932716
OMIM ID
612462
MedGen ID
420958
Orphanet ID
79444
SNOMED CT ID
717792007

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
GNAS OTMH8BKJ Definitive Mitochondrial [1]
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References

1 Flexible and scalable diagnostic filtering of genomic variants using G2P with Ensembl VEP. Nat Commun. 2019 May 30;10(1):2373. doi: 10.1038/s41467-019-10016-3.