Muscular dystrophy, limb-girdle, autosomal recessive 10

Preferred Label : Muscular dystrophy, limb-girdle, autosomal recessive 10;

Symbol : LGMDR10;

CISMeF acronym : LGMD2J; LGMDR10;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : LGMD2J; Muscular dystrophy, limb-girdle, type 2j;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the titin gene (TTN, 188840.0004);

Laboratory abnormalities : Normal or increased serum creatine kinase;

Prefixed ID : #608807;

Détails

Origin ID

608807;

UMLS CUI

C1837342;

Automatic exact mappings (from CISMeF team)
- TTN wt Allele [NCIt concept]
- titin [ORDO Gene]
Currated CISMeF NLP mapping
- Autosomal recessive limb girdle muscular dystrophy type 2J (disorder) [SNOMED CT concept]
- Titin-related limb-girdle muscular dystrophy R10 [ORDO Disease]
- autosomal recessive limb-girdle muscular dystrophy type 2J [DO Concept]
- muscular dystrophy, Limb-Girdle, type 2J [MeSH concept]
- muscular dystrophy, Limb-Girdle, type 2J [MeSH Supplementary Concept]
DO Cross reference
- autosomal recessive limb-girdle muscular dystrophy type 2J [DO Concept]
Genes related to phenotype
- Titin [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Childhood onset [HPO term]
- Distal muscle weakness [HPO term]
- Distal muscle weakness, mild [HPO term]
- EMG shows myopathic changes [HPO term]
- EMG: myopathic abnormalities [HPO term]
- Elevated circulating creatine kinase concentration [HPO term]
- Muscle biopsy shows dystrophic changes [HPO term]
- Muscular dystrophy [HPO term]
- Progressive [HPO term]
- Proximal muscle weakness [HPO term]
- Skeletal muscle atrophy [HPO term]
- Variable expressivity [HPO term]
Not associated HPO term(s)
- Cardiomyopathy [HPO term]
ORDO concept(s)
- Titin-related limb-girdle muscular dystrophy R10 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autosomal recessive limb girdle muscular dystrophy type 2J (disorder) [SNOMED CT concept]
- Titin-related limb-girdle muscular dystrophy R10 [ORDO Disease]
- autosomal recessive limb-girdle muscular dystrophy type 2J [DO Concept]
- muscular dystrophy, Limb-Girdle, type 2J [MeSH Supplementary Concept]
- muscular dystrophy, Limb-Girdle, type 2J [MeSH concept]

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