Giant Axonal Neuropathy 1, Autosomal Recessive (GAN1)

Alias:
Giant Axonal Neuropathy
Giant Axonal Neuropathy 1
Gan
Giant Axonal Neuropathy-1
Gan1
Neuropathy, Axonal, Giant, Type 1
Neuropathy, Giant Axonal
Giant Axonal Disease
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Giant Axonal Neuropathy 1, Autosomal Recessive, also known as giant axonal neuropathy, is related to axonal neuropathy and hypotonia, and has symptoms including neuralgia, abnormal pyramidal signs and facial paresis. An important gene associated with Giant Axonal Neuropathy 1, Autosomal Recessive is GAN (Gigaxonin), and among its related pathways/superpathways is Benzodiazepine Pathway, Pharmacodynamics. Affiliated tissues include spinal cord and brain, and related phenotypes are joint hypermobility and areflexia
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Infant
--
18
131
37

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

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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
Journal
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IF
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