Congenital myopathy 3 with rigid spine

Preferred Label : Congenital myopathy 3 with rigid spine;

Symbol : CMYO3;

CISMeF acronym : MDRS1; RSMD1; RSS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : RSS; Myopathy, sepn1-related; Minicore myopathy, severe classic form; Muscular dystrophy, congenital, merosin-positive, with early spine rigidity; Multicore myopathy, severe classic form; Muscular dystrophy, congenital, eichsfeld type; Desmin-related myopathy with mallory bodies; MDRS1; Multiminicore disease, severe classic form; Rigid spine syndrome; RSMD1; Rigid spine muscular dystrophy 1;

Description : Desmin-related myopathies (DRM) are a clinically and genetically heterogeneous group of muscular disorders defined morphologically by intrasarcoplasmic aggregates of desmin (DES; 125660), usually accompanied by other protein aggregates. Approximately one-third of DRM are caused by mutations in the desmin gene (Ferreiro et al., 2004). For other forms of DRM, see primary desminopathy (601419).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutations in the selenoprotein N-1 gene (SEPN1, 606210.0001);

Prefixed ID : #602771;

Details

Origin ID

602771;

UMLS CUI

C0410180;

Automatic exact mappings (from CISMeF team)
- Desmin-related myopathy with Mallory body-like inclusions [ORDO Disease]
- Eichsfeld type congenital muscular dystrophy (disorder) [SNOMED CT concept]
- GRB10 wt Allele [NCIt concept]
- PITX2 wt Allele [NCIt concept]
- Really Simple Syndication [NCIt concept]
- Resistant Starch [NCIt concept]
- Rigid spine syndrome [ORDO Disease]
- Rigid spine syndrome [ICD-11 More detail]
- selenoprotein N [ORDO Gene]
- symbol withdrawn RSMD1 [HGNC gene]
Currated CISMeF NLP mapping
- Rigid Spine Muscular Dystrophy 1 [NCIt concept]
- rigid spine muscular dystrophy 1 [DO Concept]
DO Cross reference
- rigid spine muscular dystrophy 1 [DO Concept]
False automatic mappings
- RSS [MeSH concept]
- Serbia [NCIt concept]
- webcast [MeSH publication type]
Genes related to phenotype
- Selenoprotein n [OMIM gene]
HPO term(s)
- Abnormal rib cage morphology [HPO term]
- Autosomal recessive inheritance [HPO term]
- Axial muscle weakness [HPO term]
- Dystrophic changes may be present [HPO term]
- Facial palsy [HPO term]
- Failure to thrive [HPO term]
- Flexion contracture [HPO term]
- Generalized amyotrophy [HPO term]
- Generalized hypotonia [HPO term]
- Generalized muscle weakness [HPO term]
- High palate [HPO term]
- High pitched voice [HPO term]
- High-arched palate [HPO term]
- Hypotonia [HPO term]
- Increased variability in muscle fiber diameter [HPO term]
- Infantile onset [HPO term]
- Limited neck flexion [HPO term]
- Merosin-positive biopsy [HPO term]
- Minicore myopathy [HPO term]
- Minicore regions are poorly defined and do not extend through entire fiber length [HPO term]
- Motor delay [HPO term]
- Muscle weakness, diffuse [HPO term]
- Muscular dystrophy [HPO term]
- Nasal speech [HPO term]
- Nasal, high-pitched voice [HPO term]
- Nocturnal hypoventilation [HPO term]
- Nonprogressive [HPO term]
- Nonprogressive or slowly progressive [HPO term]
- Poor head control [HPO term]
- Reduced vital capacity [HPO term]
- Restrictive deficit on pulmonary function testing [HPO term]
- Restrictive ventilatory defect [HPO term]
- Scoliosis [HPO term]
- Short stature [HPO term]
- Spinal rigidity [HPO term]
- Type 1 and type 2 muscle fiber minicore regions [HPO term]
ORDO concept(s)
- Classic multiminicore myopathy [ORDO Disease]
- Desmin-related myopathy with Mallory body-like inclusions [ORDO Disease]
- Multiminicore myopathy [ORDO Disease]
- Rigid spine syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Eichsfeld type congenital muscular dystrophy (disorder) [SNOMED CT concept]
- Rigid Spine Muscular Dystrophy 1 [NCIt concept]
- Rigid spine syndrome [MeSH concept]
- Rigid spine syndrome [ORDO Disease]
- Rigid spine syndrome [PASCAL descriptor]
- rigid spine muscular dystrophy 1 [DO Concept]
- rigid spine syndrome [MeSH Supplementary Concept]
Validated automatic mappings to NTBT
- Rigid spine syndrome [PASCAL descriptor]
- Rigid spine syndrome [MeSH concept]
- Rigid spine syndrome [ORDO Disease]
- rigid spine syndrome [MeSH Supplementary Concept]

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