Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type b, 1

Preferred Label : Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type b, 1;

Symbol : MDDGB1;

CISMeF acronym : MDDGB1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Muscular dystrophy, congenital, pomt1-related;

Description : Congenital muscular dystrophies resulting from defective glycosylation of alpha-dystroglycan (DAG1; 128239) are characterized by early onset of muscle weakness, usually before ambulation is achieved; mental retardation and mild brain anomalies are variable (Balci et al., 2005; Godfrey et al., 2007). Congenital muscular dystrophy-dystroglycanopathies with or without mental retardation (type B) represent the intermediate range of the spectrum of dystroglycanopathies. They are less severe than muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A; see;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the protein O-mannosyltransferase-1 gene (POMT1, 607423.0006);

Laboratory abnormalities : Increased serum creatine kinase;

Prefixed ID : #613155;

Détails

Origin ID

613155;

UMLS CUI

C5436962;

Currated CISMeF NLP mapping
- Congenital muscular dystrophy-muscle hypertrophy-severe intellectual disability syndrome [ORDO Disease]
DO Cross reference
- muscular dystrophy-dystroglycanopathy [DO Concept]
Genes related to phenotype
- Protein o-mannosyltransferase 1 [OMIM gene]
HPO term(s)
- Abnormal left ventricular function [HPO term]
- Absent speech [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cardiomyopathy [HPO term]
- Cerebellar dysplasia [HPO term]
- Cerebellar hypoplasia [HPO term]
- Congenital muscular dystrophy [HPO term]
- Developmental cataract [HPO term]
- Elevated circulating creatine kinase concentration [HPO term]
- Enlarged cisterna magna [HPO term]
- Facial palsy [HPO term]
- Flexion contracture [HPO term]
- Global developmental delay [HPO term]
- Hypoplasia of the corpus callosum [HPO term]
- Inability to walk [HPO term]
- Infantile onset [HPO term]
- Intellectual disability, severe [HPO term]
- Macroglossia [HPO term]
- Microcephaly [HPO term]
- Muscular dystrophy [HPO term]
- Myopia [HPO term]
- Retinal dystrophy [HPO term]
ORDO concept(s)
- Congenital muscular dystrophy with cerebellar involvement [ORDO Disease]
- Congenital muscular dystrophy with intellectual disability [ORDO Disease]
- Congenital muscular dystrophy-muscle hypertrophy-severe intellectual disability syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Congenital muscular dystrophy-muscle hypertrophy-severe intellectual disability syndrome [ORDO Disease]

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

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