Hypocalcemia, Autosomal Dominant 2 (HYPOC2)

Alias:
Autosomal Dominant Hypocalcemia 2
Hypoc2
Hypocalcemia, Autosomal Dominant, Type 2
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Hypocalcemia, Autosomal Dominant 2, also known as autosomal dominant hypocalcemia 2, is related to meningeal melanocytoma, and has symptoms including muscle cramp and carpopedal spasm. An important gene associated with Hypocalcemia, Autosomal Dominant 2 is GNA11 (G Protein Subunit Alpha 11), and among its related pathways/superpathways are Phospholipase-C Pathway and AMPK Enzyme Complex Pathway. Affiliated tissues include kidney, and related phenotypes are postnatal growth retardation and basal ganglia calcification
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Unknown
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6
24
4

Medical Symptom

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

Gene & Mutation

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Score
Mutations
No data available

Related Drugs

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CAS Number
Status
Phase
No data available

Disease Model

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

References Literature

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PMID
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IF
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