ZFIN Human Disease: spinal muscular atrophy with progressive myoclonic epilepsy

OBO ID: DOID:0111527

Term Name:	spinal muscular atrophy with progressive myoclonic epilepsy		Search Ontology:
Synonyms:	hereditary myoclonus-progressive distal muscular atrophy syndrome Jankovic-Rivera syndrome SMA-PME SMAPME
Definition:	A motor neuron disease characterized by severe and progressive myoclonic epilepsy and lower-motor-neuron disease that has_material_basis_in homozygous or compound heterozygous mutation in the ASAH1 gene on chromosome 8p22. (2)
References:	GARD:3044 GARD:3875 MESH:C537563 OMIM:159950 ORDO:2590 SNOMEDCT_US_2022_09_01:703524005 UMLS_CUI:C1834569
Ontology:	Human Disease (DOID:0111527)

Relationships

is a type of:	autosomal recessive disease spinal muscular atrophy autosomal recessive disease spinal muscular atrophy Show first 5 Terms

OTHER spinal muscular atrophy with progressive myoclonic epilepsy PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
ASAH1	asah1b asah1a	Spinal muscular atrophy with progressive myoclonic epilepsy	159950

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None