Neuropathy, Hereditary Sensory and Autonomic, Type I, with Cough and Gastroesophageal Reflux

Alias:
Hsan with Cough and Gastroesophageal Reflux
Hereditary Sensory Neuropathy Type 1b
Hsan1b
Hereditary Sensory and Autonomic Neuropathy Type 1 with Cough and Gastroesophageal Reflux
Neuropathy, Hereditary Sensory and Autonomic, Type Ib
Hereditary Sensory and Autonomic Neuropathy Type 1b
Hereditary Sensory and Autonomic Neuropathy Type Ib
Neuropathy, Hereditary Sensory, Type Ib
Hereditary Sensory Neuropathy, Type Ib
Hereditary Sensory Neuropathy Type Ib
Hsn1b
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Neuropathy, Hereditary Sensory and Autonomic, Type I, with Cough and Gastroesophageal Reflux, also known as hsan with cough and gastroesophageal reflux, is related to hereditary sensory and autonomic neuropathy type 1 and neuropathy, and has symptoms including coughing, hoarseness and lancinating pains. An important gene associated with Neuropathy, Hereditary Sensory and Autonomic, Type I, with Cough and Gastroesophageal Reflux is HSN1B (Hereditary Sensory Neuropathy, Type IB), and among its related pathways/superpathways are Sphingolipid metabolism and Sphingolipid pathway. Related phenotypes are sensorineural hearing impairment and gastroesophageal reflux
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Adult
<1/1000000
2
18
2

Medical Symptom

#
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

Title
PMID
Journal
Year
IF
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