Myopathy, autosomal recessive, with rigid spine and distal joint contractures

Preferred Label : Myopathy, autosomal recessive, with rigid spine and distal joint contractures;

Symbol : MRRSDC;

CISMeF acronym : MRRSDC;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : LGMD2Y; Muscular dystrophy, limb-girdle, type 2y;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the torsin A-interacting protein 1 gene (TOR1AIP1, 614512.0001);

Laboratory abnormalities : Increased serum creatine kinase (1 patient);

Prefixed ID : #617072;

Details

Origin ID

617072;

UMLS CUI

C4511482;

CISMeF manual mappings
- TOR1AIP1-related limb-girdle muscular dystrophy [ORDO Disease]
- autosomal recessive limb-girdle muscular dystrophy type 2Y [DO Concept]
Currated CISMeF NLP mapping
- Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2Y [NCIt concept]
- Autosomal recessive limb girdle muscular dystrophy type 2Y (disorder) [SNOMED CT concept]
DO Cross reference
- autosomal recessive limb-girdle muscular dystrophy type 2Y [DO Concept]
Genes related to phenotype
- Torsin 1a-interacting protein 1 [OMIM gene]
HPO term(s)
- Ankle flexion contracture [HPO term]
- Autosomal recessive inheritance [HPO term]
- Elevated circulating creatine kinase concentration [HPO term]
- Flexion contracture [HPO term]
- Increased endomysial connective tissue [HPO term]
- Muscle weakness [HPO term]
- Muscular dystrophy [HPO term]
- Slowly progressive [HPO term]
- Spinal rigidity [HPO term]
ORDO concept(s)
- TOR1AIP1-related limb-girdle muscular dystrophy [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2Y [NCIt concept]
- Autosomal recessive limb girdle muscular dystrophy type 2Y (disorder) [SNOMED CT concept]
- TOR1AIP1-related limb-girdle muscular dystrophy [ORDO Disease]
- autosomal recessive limb-girdle muscular dystrophy type 2Y [DO Concept]

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