Submissions
GlyTouCan
Glycan Structure Repository
GlyComb
Glycoconjugate Repository
GlycoPOST
Glycomics MS raw data Repository
UniCarb-DR
Glycomics MS Repository for glycan annotations from GlycoWorkbench
LM-GlycoRepo
Repository for lectin-assisted multimodality data
All Resources
Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
rigid spine muscular dystrophy 1
Summary
- Synonym
-
- Eichsfeld type congenital muscular dystrophy
- MDRS1
- RSMD1
- RSS
- SEPN1-related myopathy
- 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
- rigid spine syndrome
- 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.
- Super Class
- autosomal recessive disease congenital muscular dystrophy spinal disease
External Links
- Disease Ontology
- DOID:0110633
- Mondo Disease Ontology
- MeSH
- ORDO
- OMIM
- GARD
- MGI genotype (from TogoID)
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001265 | Hyporeflexia |
| HP:0003306 | Spinal rigidity |
| HP:0002421 | Poor head control |
| HP:0003391 | Gowers sign |
| HP:0002650 | Scoliosis |
| HP:0002090 | Pneumonia |
| HP:0003202 | Skeletal muscle atrophy |
| HP:0011842 | Abnormal skeletal morphology |
