Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7 (HMND7)

Alias:
Harper-Young Myopathy
Hmn Viia
Dhmn7a
Dhmnvp
Hmn7a
Distal Hereditary Motor Neuropathy with Vocal Cord Paralysis
Spinal Muscular Atrophy, Distal, with Vocal Cord Paralysis
Neuronopathy, Distal Hereditary Motor, Harding Type Viia
Distal Spinal Muscular Atrophy with Vocal Cord Paralysis
Neuropathy, Distal Hereditary Motor, Harding Type Viia
Neuropathy, Motor, Distal, Hereditary, Type Viia
Distal Hereditary Motor Neuronopathy Type Viia
Neuronopathy, Distal Hereditary Motor, Type 7a
Distal Hereditary Motor Neuropathy Type Viia
Neuronopathy, Distal Hereditary Motor, 7a
Hmnd7
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7, also known as harper-young myopathy, is related to distal hereditary motor neuronopathy type 7 and distal hereditary motor neuropathy type 7. An important gene associated with Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7 is SLC5A7 (Solute Carrier Family 5 Member 7). Affiliated tissues include spinal cord.
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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Unknown
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1
5
8

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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