Anhidrosis, Isolated, with Normal Sweat Glands (ANHD)

Alias:
Isolated Anhidrosis with Normal Sweat Glands
Dann-Epstein-Sohar Syndrome
Anhd
Anhidrosis, Familial Generalized, with Normal Sweat Glands
Isolated Generalized Anhidrosis with Normal Sweat Glands
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Anhidrosis, Isolated, with Normal Sweat Glands, also known as isolated anhidrosis with normal sweat glands, is related to cerebral palsy, ataxic, autosomal recessive and amyotrophic lateral sclerosis 16, juvenile. An important gene associated with Anhidrosis, Isolated, with Normal Sweat Glands is ITPR2 (Inositol 1,4,5-Trisphosphate Receptor Type 2), and among its related pathways/superpathways are Signal Transduction and CREB Pathway. Affiliated tissues include skin and heart, and related phenotypes are heat intolerance and generalized anhidrosis
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Newborn
<1/1000000
10
147
3

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
No Data Found!
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