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Metadata
ID DOID:0111200
Name autosomal dominant distal hereditary motor neuronopathy 1
Definition An autosomal dominant distal hereditary motor neuronopathy that is characterized by progressive distal motor weakness and muscular atrophy of the peripheral nervous system without sensory impairment, that is caused by anterior horn cell degeneration and that has_material_basis_in heterozygous 1.35-Mb DNA insertion on chromosome 7q34-q36.2. This structural variant (SV) results in the production of a novel gene-intergenic fusion transcript, UBE3C-IF.
https://www.ncbi.nlm.nih.gov/pubmed/17354000, https://www.ncbi.nlm.nih.gov/pubmed/7365507
Xrefs

MESH:C566675

NCI:C132826

OMIM:182960

ORDO:139518

SNOMEDCT_US_2023_03_01:770630005

UMLS_CUI:C1866784

Subsets

DO_rare_slim

NCIthesaurus

Synonyms

autosomal dominant distal juvenile spinal muscular atrophy type 1 [EXACT]

dHMN1 [EXACT]

distal hereditary motor neuronopathy type 1 [EXACT]

distal hereditary motor neuropathy type I [EXACT]

HMN I [EXACT]

spinal Charcot-Marie-Tooth disease 1 [EXACT]

Parent Relationships

is_a autosomal dominant distal hereditary motor neuronopathy

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