MDDGB1
MCID: MSC048
MIFTS: 28
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Muscular Dystrophy-Dystroglycanopathy , Type B, 1 (MDDGB1)
Categories:
Eye diseases, Fetal diseases, Genetic diseases, Mental diseases, Metabolic diseases, Muscle diseases, Neuronal diseases, Rare diseases
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MalaCards integrated aliases for Muscular Dystrophy-Dystroglycanopathy , Type B, 1:
Characteristics:OMIM:57
Inheritance:
autosomal recessive
Miscellaneous:
onset in infancy one patient with normal cognition has been reported HPO:32
muscular dystrophy-dystroglycanopathy , type b, 1:
Onset and clinical course infantile onset Inheritance autosomal recessive inheritance Classifications:
MalaCards categories:
Global: Genetic diseases Metabolic diseases Fetal diseases Rare diseases Anatomical: Eye diseases Neuronal diseases Muscle diseases Mental diseases |
OMIM
:
57
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 MDDGA1, 236670), previously designated Walker-Warburg syndrome (WWS) or muscle-eye-brain disease (MEB), and more severe than limb-girdle muscular dystrophy-dystroglycanopathy (type C; see MDDGC1, 609308).
(613155)
MalaCards based summary : Muscular Dystrophy-Dystroglycanopathy , Type B, 1, also known as congenital muscular dystrophy-dystroglycanopathy with mental retardation, type b1, is related to muscular dystrophy-dystroglycanopathy , type b, 5 and muscular dystrophy-dystroglycanopathy , type b, 6, and has symptoms including facial paresis An important gene associated with Muscular Dystrophy-Dystroglycanopathy , Type B, 1 is POMT1 (Protein O-Mannosyltransferase 1). Affiliated tissues include brain and eye, and related phenotypes are facial palsy and macroglossia UniProtKB/Swiss-Prot : 75 Muscular dystrophy-dystroglycanopathy congenital with mental retardation B1: An autosomal recessive disorder characterized by congenital muscular dystrophy associated with mental retardation and mild structural brain abnormalities. |
Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:613155Human phenotypes related to Muscular Dystrophy-Dystroglycanopathy , Type B, 1:32 (show all 19)
UMLS symptoms related to Muscular Dystrophy-Dystroglycanopathy , Type B, 1:facial paresis |
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MalaCards organs/tissues related to Muscular Dystrophy-Dystroglycanopathy , Type B, 1:41
Brain,
Eye
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UniProtKB/Swiss-Prot genetic disease variations for Muscular Dystrophy-Dystroglycanopathy , Type B, 1:75
ClinVar genetic disease variations for Muscular Dystrophy-Dystroglycanopathy , Type B, 1:6 (show top 50) (show all 207)
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Search
GEO
for disease gene expression data for Muscular Dystrophy-Dystroglycanopathy , Type B, 1.
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