Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4

Preferred Label : Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4;

Symbol : MDDGC4;

CISMeF acronym : LGMD2M; MDDGC4; LGMDR13;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Muscular dystrophy, limb-girdle, type 2m; LGMD2M; Muscular dystrophy, limb-girdle, autosomal recessive 13; LGMDR13;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the fukutin gene (FKTN, 607440.0005);

Laboratory abnormalities : Increased serum creatine kinase;

Prefixed ID : #611588;

Details

Origin ID

611588;

UMLS CUI

C1969040;

Automatic exact mappings (from CISMeF team)
- fukutin [ORDO Gene]
Currated CISMeF NLP mapping
- Autosomal recessive limb girdle muscular dystrophy type 2M (disorder) [SNOMED CT concept]
- Fukutin-related limb-girdle muscular dystrophy R13 [ORDO Disease]
- Limb-girdle muscular dystrophy 2M, POMGnT1 gene mutation [ICD-11 More detail]
- autosomal recessive limb-girdle muscular dystrophy type 2M [DO Concept]
- muscular dystrophy, Limb-Girdle, type 2M [MeSH concept]
- muscular dystrophy, Limb-Girdle, type 2M [MeSH Supplementary Concept]
DO Cross reference
- autosomal recessive limb-girdle muscular dystrophy type 2M [DO Concept]
Genes related to phenotype
- Fukutin [OMIM gene]
HPO term(s)
- Abnormal glycosylation [HPO term]
- Autosomal recessive inheritance [HPO term]
- Elevated circulating creatine kinase concentration [HPO term]
- Flexion contracture [HPO term]
- Generalized hypotonia [HPO term]
- Gowers sign [HPO term]
- Hyperlordosis [HPO term]
- Hyporeflexia [HPO term]
- Hypotonia [HPO term]
- Infantile onset [HPO term]
- Motor delay [HPO term]
- Muscular dystrophy [HPO term]
- Pectus excavatum [HPO term]
- Progressive [HPO term]
- Skeletal muscle hypertrophy [HPO term]
- Talipes equinovarus [HPO term]
- Variable expressivity [HPO term]
ORDO concept(s)
- Fukutin-related limb-girdle muscular dystrophy R13 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autosomal recessive limb girdle muscular dystrophy type 2M (disorder) [SNOMED CT concept]
- Fukutin-related limb-girdle muscular dystrophy R13 [ORDO Disease]
- muscular dystrophy, Limb-Girdle, type 2M [MeSH Supplementary Concept]
- muscular dystrophy, Limb-Girdle, type 2M [MeSH concept]

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