Pseudohypoparathyroidism

Alias:
Parathyroid Hormone Resistant Hypoparathyroidism
Constitutional Chronic Hypocalcaemia
Familial Pseudohypoparathyroidism
Php - [pseudohypoparathyroidism]
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Pseudohypoparathyroidism, also known as parathyroid hormone resistant hypoparathyroidism, is related to pseudopseudohypoparathyroidism and pseudohypoparathyroidism, type ia. An important gene associated with Pseudohypoparathyroidism is GNAS (GNAS Complex Locus), and among its related pathways/superpathways are Signal Transduction and GPCR downstream signalling. The drugs Benzocaine and Tannic acid have been mentioned in the context of this disorder. Affiliated tissues include kidney and eye, and related phenotypes are Increased shRNA abundance (Z-score > 2) and homeostasis/metabolism
Related ID:
MESH:D011547
ICD11:1225154856

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
All ages
1-9/1000000
21
249
29

Medical Symptom

#
Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

#
Gene
Function
Score
Mutations
No data available

Related Drugs

Name
CAS Number
Status
Phase
No data available

Disease Model

Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

Title
PMID
Journal
Year
IF
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