Muscular dystrophy-dystroglycanopathy (congenital with or without impaired intellectual development), type b, 5

Preferred Label : Muscular dystrophy-dystroglycanopathy (congenital with or without impaired intellectual development), type b, 5;

Symbol : MDDGB5;

CISMeF acronym : MDDGB5;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Muscular dystrophy, congenital, fkrp-related; Muscular dystrophy, congenital, 1c; MDC1C;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the fukutin-related protein gene (FKRP, 606596.0001);

Laboratory abnormalities : Increased serum creatine kinase;

Prefixed ID : #606612;

Détails

Origin ID

606612;

UMLS CUI

C1847759;

Automatic exact mappings (from CISMeF team)
- fukutin related protein [ORDO Gene]
Currated CISMeF NLP mapping
- Congenital muscular dystrophy type 1C [ORDO Disease]
- muscular dystrophy, congenital, 1C [MeSH concept]
- muscular dystrophy, congenital, 1C [MeSH Supplementary Concept]
- muscular dystrophy-dystroglycanopathy type B5 [DO Concept]
DO Cross reference
- muscular dystrophy-dystroglycanopathy type B5 [DO Concept]
Genes related to phenotype
- Fukutin-related protein [OMIM gene]
HPO term(s)
- Abnormal cerebral white matter morphology [HPO term]
- Achilles tendon contracture [HPO term]
- Autosomal recessive inheritance [HPO term]
- Calf hypertrophy [HPO term]
- Calf muscle hypertrophy [HPO term]
- Cerebellar atrophy [HPO term]
- Cerebellar cyst [HPO term]
- Congenital muscular dystrophy [HPO term]
- Congenital onset [HPO term]
- Delayed gross motor development [HPO term]
- Difficulty climbing stairs [HPO term]
- Difficulty walking [HPO term]
- Dilated cardiomyopathy may be present [HPO term]
- EMG shows myopathic changes [HPO term]
- EMG: myopathic abnormalities [HPO term]
- Elevated circulating creatine kinase concentration [HPO term]
- Facial palsy [HPO term]
- Feeding difficulties [HPO term]
- Feeding difficulties in infancy [HPO term]
- Frequent falls [HPO term]
- Generalized muscle weakness [HPO term]
- Hyperlordosis [HPO term]
- Intellectual disability [HPO term]
- Kyphosis [HPO term]
- Macroglossia [HPO term]
- Microcephaly [HPO term]
- Muscle biopsy shows dystrophic changes [HPO term]
- Muscle spasm [HPO term]
- Muscular dystrophy, congenital [HPO term]
- Myalgia [HPO term]
- Neonatal hypotonia [HPO term]
- Pachygyria [HPO term]
- Proximal amyotrophy [HPO term]
- Proximal muscle weakness [HPO term]
- Restrictive deficit on pulmonary function testing [HPO term]
- Restrictive ventilatory defect [HPO term]
- Scoliosis [HPO term]
- Shoulder girdle muscle atrophy [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]
- Ventriculomegaly [HPO term]
- Vertebral fusion [HPO term]
ORDO concept(s)
- Congenital muscular dystrophy type 1C [ORDO Disease]
- Congenital muscular dystrophy with cerebellar involvement [ORDO Disease]
- Congenital muscular dystrophy with intellectual disability [ORDO Disease]
- Congenital muscular dystrophy without intellectual disability [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Congenital muscular dystrophy type 1C [ORDO Disease]
- muscular dystrophy, congenital, 1C [MeSH Supplementary Concept]
- muscular dystrophy, congenital, 1C [MeSH concept]
- muscular dystrophy-dystroglycanopathy type B5 [DO Concept]

Position du mot-clé dans l'(les) arborescence(s) :

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