Neuropathy, Hereditary Motor and Sensory, Type Vib, with Optic Atrophy (HMSN6B)

Alias:
Neuropathy, Hereditary Motor and Sensory, Type Vib
Neuropathy, Hereditary Motor and Sensory, Type 6b
Hmsn Vib
Hmsn6b
Cmt6b
Neuropathy, Hereditary Motor and Sensory, 6b, with Optic Atrophy
Neuropathy, Motor and Sensory, Hereditary, Type Vib
Hereditary Motor and Sensory Neuropathy Type Vib
Charcot-Marie-Tooth Disease, Type 6b
Charcot-Marie-Tooth Disease 6b
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Neuropathy, Hereditary Motor and Sensory, Type Vib, with Optic Atrophy, is also known as neuropathy, hereditary motor and sensory, type vib. An important gene associated with Neuropathy, Hereditary Motor and Sensory, Type Vib, with Optic Atrophy is SLC25A46 (Solute Carrier Family 25 Member 46). Affiliated tissues include brain and cerebellum, and related phenotypes are respiratory failure and peripheral axonal neuropathy
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Unknown
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1
7
11

Medical Symptom

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

Gene & Mutation

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Mutations
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Related Drugs

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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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