Muscular dystrophy, limb-girdle, autosomal recessive 12

Preferred Label : Muscular dystrophy, limb-girdle, autosomal recessive 12;

Symbol : LGMDR12;

CISMeF acronym : LGMD2L; LGMDR12;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : LGMD2L; Muscular dystrophy, limb-girdle, type 2l;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the transmembrane protein 16E gene (TMEM16E, 608662.0003);

Laboratory abnormalities : Normal or increased serum creatine kinase;

Prefixed ID : #611307;

Details

Origin ID

611307;

UMLS CUI

C1969785;

Currated CISMeF NLP mapping
- Anoctamin-5-related limb-girdle muscular dystrophy R12 [ORDO Disease]
- Autosomal recessive limb girdle muscular dystrophy type 2L (disorder) [SNOMED CT concept]
- autosomal recessive limb-girdle muscular dystrophy type 2L [DO Concept]
- limb girdle muscular dystrophy type 2l [Disease (Nov.)]
- muscular dystrophy, Limb-Girdle, type 2L [MeSH concept]
- muscular dystrophy, Limb-Girdle, type 2L [MeSH Supplementary Concept]
DO Cross reference
- autosomal recessive limb-girdle muscular dystrophy type 2L [DO Concept]
Genes related to phenotype
- Anoctamin 5 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Calf hypertrophy [HPO term]
- Calf muscle hypertrophy [HPO term]
- EMG shows myopathic changes [HPO term]
- EMG: myopathic abnormalities [HPO term]
- Elevated circulating creatine kinase concentration [HPO term]
- Facial muscle weakness, mild [HPO term]
- Facial palsy [HPO term]
- Hip girdle muscle weakness [HPO term]
- Increased connective tissue [HPO term]
- Muscle biopsy shows dystrophic changes [HPO term]
- Muscular dystrophy [HPO term]
- Myalgia [HPO term]
- Pelvic girdle muscle weakness [HPO term]
- Progressive [HPO term]
- Proximal muscle weakness [HPO term]
- Shoulder girdle muscle weakness [HPO term]
- Variable expressivity [HPO term]
ORDO concept(s)
- Anoctamin-5-related limb-girdle muscular dystrophy R12 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Anoctamin-5-related limb-girdle muscular dystrophy R12 [ORDO Disease]
- Autosomal recessive limb girdle muscular dystrophy type 2L (disorder) [SNOMED CT concept]
- autosomal recessive limb-girdle muscular dystrophy type 2L [DO Concept]
- limb girdle muscular dystrophy type 2l [Disease (Nov.)]
- muscular dystrophy, Limb-Girdle, type 2L [MeSH Supplementary Concept]
- muscular dystrophy, Limb-Girdle, type 2L [MeSH concept]

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