Neuropathy, Hereditary Sensory and Autonomic, Type Ia (HSAN1A)

Alias:
Hsan1a
Neuropathy, Hereditary Sensory and Autonomic, Type 1a
Hereditary Sensory and Autonomic Neuropathy Type 1a
Hsan Ia
Hsn Ia
Hsan1
Neuropathy, Hereditary Sensory Radicular, Autosomal Dominant, Type 1a
Hereditary Sensory Radicular Neuropathy Autosomal Dominant Type 1a
Neuropathy, Sensory and Autonomic, Hereditary, Type 1a
Hereditary Sensory and Autonomic Neuropathy Type Ia
Neuropathy, Hereditary Sensory and Autonomic, 1a
Hereditary Sensory Autonomic Neuropathy, Type 1
Neuropathy, Hereditary Sensory, Type Ia
Hereditary Sensory Neuropathy Type Ia
Hsan 1
Hsn1a
Hsn1
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Neuropathy, Hereditary Sensory and Autonomic, Type Ia, also known as hsan1a, is related to neuropathy, hereditary sensory and autonomic, type i, with cough and gastroesophageal reflux and neuropathy, hereditary sensory, type id. An important gene associated with Neuropathy, Hereditary Sensory and Autonomic, Type Ia is SPTLC1 (Serine Palmitoyltransferase Long Chain Base Subunit 1), and among its related pathways/superpathways are Metabolism and Sphingolipid metabolism. Affiliated tissues include skin and skeletal muscle, and related phenotypes are cataract and skeletal muscle atrophy
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Unknown
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11
76
48

Medical Symptom

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

Gene & Mutation

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Function
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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