Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 15

Preferred Label : Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 15;

Symbol : MDDGC15;

CISMeF acronym : CDG1(DPM3); CDG1O; MDDGC15;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Cdg io; CDG1(DPM3); CDGIo; CDG1O; Muscular dystrophy-dystroglycanopathy, limb-girdle, dpm3-related; Congenital disorder of glycosylation, type io;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the dolichyl-phosphate mannosyltransferase 3 gene (DPM3, 605951.0001);

Laboratory abnormalities : Increased serum creatine kinase; Abnormal N-glycosylation of serum transferrin, type 1 pattern;

Prefixed ID : #612937;

Details

Origin ID

612937;

UMLS CUI

C2752007;

Currated CISMeF NLP mapping
- Carbohydrate deficient glycoprotein syndrome type 1o (disorder) [SNOMED CT concept]
- DPM3 congenital disorder of glycosylation [ICD-11 More detail]
- DPM3-CDG [ORDO Disease]
- congenital disorder of glycosylation, type io [MeSH concept]
- congenital disorder of glycosylation, type io [MeSH Supplementary Concept]
Genes related to phenotype
- Dolichyl-phosphate mannosyltransferase 3 [OMIM gene]
HPO term(s)
- Adult onset [HPO term]
- Autosomal recessive inheritance [HPO term]
- Dilated cardiomyopathy [HPO term]
- Elevated circulating creatine kinase concentration [HPO term]
- Elevated hepatic transaminase [HPO term]
- Gowers sign [HPO term]
- Increased variability in muscle fiber diameter [HPO term]
- Juvenile onset [HPO term]
- Limb-girdle muscular dystrophy [HPO term]
- Muscle weakness [HPO term]
- Myopathy [HPO term]
- Proximal muscle weakness [HPO term]
- Rimmed vacuoles [HPO term]
- Type I transferrin isoform profile [HPO term]
- Unsteady gait [HPO term]
- Waddling gait [HPO term]
ORDO concept(s)
- DPM3-CDG [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Carbohydrate deficient glycoprotein syndrome type 1o (disorder) [SNOMED CT concept]
- DPM3-CDG [ORDO Disease]
- congenital disorder of glycosylation, type io [MeSH Supplementary Concept]
- congenital disorder of glycosylation, type io [MeSH concept]

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