| 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 |
SNOMEDCT_US_2023_03_01:770630005 |
| 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 |