ZFIN Human Disease: rigid spine muscular dystrophy 1

OBO ID: DOID:0110633

Term Name:	rigid spine muscular dystrophy 1		Search Ontology:
Synonyms:	classic MmD classic multiminicore disease classic multiminicore myopathy congenital merosin-positive muscular dystrophy with early spine rigidity desmin-related myopathy with Mallory bodies desmin-related myopathy with Mallory body-like inclusions early-onset desmin-related myopathy Eichsfeld type congenital muscular dystrophy MDRS1 rigid spine syndrome RSMD1 RSS SEPN1-related myopathy severe classic form minicore myopathy severe classic form multicore myopathy severe classic form multiminicore disease
Definition:	A congenital muscular dystrophy characterized by intrasarcoplasmic aggregates of desmin resulting in spinal rigidity, abnormal posture (limitation of neck and trunk flexure), progressive scoliosis of the spine, early marked cervico-axial muscle weakness with relatively preserved strength and function of the extremities and progressive respiratory insufficiency that has_material_basis_in homozygous or compound heterozygous mutation in the SEPN1 gene on chromosome 1p36. (3)
References:	GARD:4723 ICD10CM:G71.2 ICD10CM:G71.8 MESH:C535683 OMIM:602771 ORDO:324604 ORDO:84132 ORDO:97244
Ontology:	Human Disease ( DOID:0110633 )

Relationships

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

OTHER rigid spine muscular dystrophy 1 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
SELENON	selenon	Congenital myopathy 3 with rigid spine	602771

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None