ZFIN Human Disease: scapuloperoneal spinal muscular atrophy

OBO ID: DOID:0111552

Term Name:	scapuloperoneal spinal muscular atrophy		Search Ontology:
Synonyms:	neurogenic scapuloperoneal amyotrophy, New England type scapuloperoneal neuronopathy SPSMA
Definition:	A motor neuron disease characterized by progressive scapuloperoneal atrophy and weakness, laryngeal palsy, congenital absence of muscles and in some cases developmental abnormalities of the bones that has_material_basis_in heterozygous mutation in the TRPV4 gene on chromosome 12q24.11. (2)
References:	GARD:10314 ICD10CM:G12.1 MESH:D009134 OMIM:181405 ORDO:431255 SNOMEDCT_US_2023_03_01:230248006 UMLS_CUI:C0751335
Ontology:	Human Disease ( DOID:0111552 )

Relationships

is a type of:	autosomal dominant disease motor neuron disease autosomal dominant disease motor neuron disease Show first 5 Terms

OTHER scapuloperoneal spinal muscular atrophy PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
TRPV4	trpv4	Scapuloperoneal spinal muscular atrophy	181405

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None