Tumoral Calcinosis, Normophosphatemic, Familial (NFTC)

Alias:
Normophosphatemic Familial Tumoral Calcinosis
Tumoral Calcinosis, Familial, Normophosphatemic
Familial Normophosphatemic Tumoral Calcinosis
Nftc
Calcinosis, Tumoral, with Normophosphatemia
Tumoral Calcinosis with Normophosphatemia
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Tumoral Calcinosis, Normophosphatemic, Familial, also known as normophosphatemic familial tumoral calcinosis, is related to familial tumoral calcinosis and tumoral calcinosis, hyperphosphatemic, familial, 1. An important gene associated with Tumoral Calcinosis, Normophosphatemic, Familial is SAMD9 (Sterile Alpha Motif Domain Containing 9), and among its related pathways/superpathways is FGF23 signaling in hypophosphatemic rickets and related disorders. Affiliated tissues include skin and bone, and related phenotypes are gingivitis and conjunctivitis
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Infant
--
9
57
5

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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