Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5

Preferred Label : Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5;

Symbol : MDDGC5;

CISMeF acronym : LGMD2I; MDDGC5; LGMDR9;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : LGMD2I; Muscular dystrophy-dystroglycanopathy, limb-girdle, frkp-related; Muscular dystrophy, limb-girdle, type 2i; Muscular dystrophy, limb-girdle, autosomal recessive 9; LGMDR9;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the fukutin-related protein gene (FKRP, 606596.0004);

Laboratory abnormalities : Increased serum creatine kinase; Myoglobinuria, particularly after physical exertion (25% of patients);

Prefixed ID : #607155;

Détails

Origin ID

607155;

UMLS CUI

C1846672;

Automatic exact mappings (from CISMeF team)
- fukutin related protein [ORDO Gene]
Currated CISMeF NLP mapping
- Autosomal recessive limb girdle muscular dystrophy type 2I (disorder) [SNOMED CT concept]
- FKRP-related limb-girdle muscular dystrophy R9 [ORDO Disease]
- Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle) Type C, 5 [NCIt concept]
- autosomal recessive limb-girdle muscular dystrophy type 2I [DO Concept]
- muscular dystrophy, Limb-Girdle, type 2I [MeSH concept]
- muscular dystrophy, Limb-Girdle, type 2I [MeSH Supplementary Concept]
DO Cross reference
- autosomal recessive limb-girdle muscular dystrophy type 2I [DO Concept]
Genes related to phenotype
- Fukutin-related protein [OMIM gene]
HPO term(s)
- Abnormal left ventricular function [HPO term]
- Achilles tendon contracture [HPO term]
- Autosomal recessive inheritance [HPO term]
- Calf hypertrophy [HPO term]
- Calf muscle hypertrophy [HPO term]
- Congenital muscular dystrophy [HPO term]
- Difficulty climbing stairs [HPO term]
- Difficulty walking [HPO term]
- Dilated cardiomyopathy [HPO term]
- Elevated circulating creatine kinase concentration [HPO term]
- Exercise-induced myoglobinuria [HPO term]
- Frequent falls [HPO term]
- Hyperlordosis [HPO term]
- Kyphosis [HPO term]
- Lordosis [HPO term]
- Macroglossia [HPO term]
- Muscle biopsy shows dystrophic changes [HPO term]
- Muscle spasm [HPO term]
- Myalgia [HPO term]
- Nocturnal hypoventilation [HPO term]
- Pelvic girdle muscle weakness [HPO term]
- Proximal muscle weakness [HPO term]
- Reduced forced vital capacity [HPO term]
- Restrictive deficit on pulmonary function testing [HPO term]
- Restrictive ventilatory defect [HPO term]
- Scoliosis [HPO term]
- Shoulder girdle muscle weakness [HPO term]
- Thigh hypertrophy [HPO term]
- Tip-toe gait [HPO term]
- Toe walking [HPO term]
- Variable expressivity [HPO term]
- Vertebral fusion [HPO term]
- Waddling gait [HPO term]
ORDO concept(s)
- FKRP-related limb-girdle muscular dystrophy R9 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autosomal recessive limb girdle muscular dystrophy type 2I (disorder) [SNOMED CT concept]
- FKRP-related limb-girdle muscular dystrophy R9 [ORDO Disease]
- Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle) Type C, 5 [NCIt concept]
- muscular dystrophy, Limb-Girdle, type 2I [MeSH Supplementary Concept]
- muscular dystrophy, Limb-Girdle, type 2I [MeSH concept]

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