autosomal dominant distal hereditary motor neuronopathy 1

Summary

DOID:0111200 - autosomal dominant distal hereditary motor neuronopathy 1

Disease Ontology 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.

Synonyms: HMN I, autosomal dominant distal juvenile spinal muscular atrophy type 1, dHMN1, distal hereditary motor neuronopathy type 1, distal hereditary motor neuropathy type I, spinal Charcot-Marie-Tooth disease 1,

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): autosomal dominant distal hereditary motor neuronopathy (is_a)