Hereditary Sensory and Autonomic Neuropathy Type 1 (HSAN1)

Alias:
Hereditary Sensory and Autonomic Neuropathy Type I
Hsan1
Hereditary Sensory and Autonomic Neuropathy Type Ie
Hereditary Sensory and Autonomic Neuropathy Type 1 with Dementia and Hearing Loss
Hsan1- [hereditary Sensory and Autonomic Neuropathy Type I]
Dnmt1-Related Dementia, Deafness, and Sensory Neuropathy
Hereditary Sensory Autonomic Neuropathy, Type 1
Hereditary Sensory Neuropathy Type Ie
Dnmt1-Complex Disorder
Hsn Ie
Hsan1e
Hsnie
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Hereditary Sensory and Autonomic Neuropathy Type 1, also known as hereditary sensory and autonomic neuropathy type i, is related to neuropathy, hereditary sensory and autonomic, type i, with cough and gastroesophageal reflux and neuropathy, hereditary sensory and autonomic, type ic. An important gene associated with Hereditary Sensory and Autonomic Neuropathy Type 1 is SPTLC1 (Serine Palmitoyltransferase Long Chain Base Subunit 1), and among its related pathways/superpathways are Metabolism and Sphingolipid metabolism. The drug Serine has been mentioned in the context of this disorder. Affiliated tissues include skin, and related phenotypes are muscle weakness and gait imbalance
Related ID:
MESH:D009477
ICD11:1989773046

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
All ages
--
39
238
22

Medical Symptom

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

Gene & Mutation

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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

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PMID
Journal
Year
IF
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