Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14 (HMND14)

Alias:
Hmn Viib
Dhmn7b
Hmn7b
Neuropathy, Distal Hereditary Motor, with Vocal Cord Paralysis, Harding Type Viib
Distal Hereditary Motor Neuropathy with Vocal Cord Paralysis Type Viib
Neuronopathy, Distal Hereditary Motor, Harding Type Viib
Neuropathy, Distal Hereditary Motor, Harding Type Viib
Neuropathy, Motor, Distal, Hereditary, Type Viib
Neuronopathy, Distal Hereditary Motor, Type 7b
Distal Hereditary Motor Neuropathy Type Viib
Lower Motor Neuron Disease, Dynactin Type
Neuronopathy, Distal Hereditary Motor, 7b
Lower Motor Neuron Disease Dynactin Type
Progressive Lower Motor Neuron Disease
Hmnd14
Plmnd
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14, also known as hmn viib, is related to spinal muscular atrophy, jokela type and perry syndrome. An important gene associated with Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14 is DCTN1 (Dynactin Subunit 1). Affiliated tissues include spinal cord.
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
--
Unknown
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1
5
14

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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