autosomal dominant distal hereditary motor neuronopathy 1

Term ID

DOID:0111200

Synonyms

• autosomal dominant distal juvenile spinal muscular atrophy type 1
• dHMN1
• distal hereditary motor neuronopathy type 1
• distal hereditary motor neuropathy type I
• HMN I
• spinal Charcot-Marie-Tooth disease 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. (2)

References

• MESH:C566675
• NCI:C132826
• OMIM:182960
• ORDO:139518
• SNOMEDCT_US_2023_03_01:770630005
• UMLS_CUI:C1866784

Ontology

Human Disease   ( DOID:0111200 )