Details of Disease

General Information of Disease (ID: DISTHV48)

Disease Name Neuronopathy, distal hereditary motor, type 7B
Synonyms
neuropathy, distal hereditary motor, type 7B; neuronopathy, distal hereditary motor, type VIIB; Lower motor neuron disease, dynactin type; Dhmn7B; neuropathy, distal hereditary motor, with vocal cord paralysis, type 7B; HMN7B; HMN 7B; neuronopathy, distal hereditary motor caused by mutation in DCTN1; DCTN1 neuronopathy, distal hereditary motor
Definition Any neuronopathy, distal hereditary motor in which the cause of the disease is a mutation in the DCTN1 gene.
Disease Hierarchy
DISGS2ID: Distal hereditary motor neuropathy
DISJW8SV: Distal hereditary motor neuropathy type 7
DISTHV48: Neuronopathy, distal hereditary motor, type 7B
Disease Identifiers
MONDO ID
MONDO_0011879
MESH ID
C564362
UMLS CUI
C1843315
OMIM ID
607641
MedGen ID
375157

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
DCTN1 OT5B51FJ Strong Autosomal dominant [1]
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References

1 The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. Genet Med. 2022 Aug;24(8):1732-1742. doi: 10.1016/j.gim.2022.04.017. Epub 2022 May 4.