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MDDGA2
MCID: MSC043
MIFTS: 27
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Muscular Dystrophy-Dystroglycanopathy , Type a, 2 (MDDGA2)
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 a, 2:
Characteristics:OMIM:57
Inheritance:
autosomal recessive
Miscellaneous:
variable phenotype genetic heterogeneity onset prenatally or at birth severe disorder majority of wws patients die within the first year of life patients with meb have less severe features and longer survival patients with meb may acquire ability to walk and a few words HPO:32
muscular dystrophy-dystroglycanopathy , type a, 2:
Onset and clinical course phenotypic variability Inheritance heterogeneous autosomal recessive inheritance Classifications:
MalaCards categories:
Global: Genetic diseases Metabolic diseases Fetal diseases Rare diseases Anatomical: Eye diseases Neuronal diseases Muscle diseases Mental diseases |
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OMIM
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57
Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A), which includes both the more severe Walker-Warburg syndrome (WWS) and the slightly less severe muscle-eye-brain disease (MEB), is an autosomal recessive disorder with characteristic brain and eye malformations, profound mental retardation, congenital muscular dystrophy, and death usually in the first years of life. It represents the most severe end of a phenotypic spectrum of similar disorders resulting from defective glycosylation of DAG1 (128239), collectively known as 'dystroglycanopathies' (van Reeuwijk et al., 2005).
For a general phenotypic description and a discussion of genetic heterogeneity of muscular dystrophy-dystroglycanopathy type A, see MDDGA1 (236670). (613150)
MalaCards based summary : Muscular Dystrophy-Dystroglycanopathy , Type a, 2, is also known as congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type a2. An important gene associated with Muscular Dystrophy-Dystroglycanopathy , Type a, 2 is POMT2 (Protein O-Mannosyltransferase 2). Affiliated tissues include eye, brain and pons, and related phenotypes are hydrocephalus and seizures UniProtKB/Swiss-Prot : 75 Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A2: An autosomal recessive disorder characterized by congenital muscular dystrophy associated with cobblestone lissencephaly and other brain anomalies, eye malformations, profound mental retardation, and death usually in the first years of life. Included diseases are the more severe Walker-Warburg syndrome and the slightly less severe muscle- eye-brain disease. |
Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:613150Human phenotypes related to Muscular Dystrophy-Dystroglycanopathy , Type a, 2:32 (show all 31)
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MalaCards organs/tissues related to Muscular Dystrophy-Dystroglycanopathy , Type a, 2:41
Eye,
Brain,
Pons
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Genes related to Muscular Dystrophy-Dystroglycanopathy , Type a, 2 (1 elite genes): - Elite gene
- Cancer Census gene in COSMIC
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UniProtKB/Swiss-Prot genetic disease variations for Muscular Dystrophy-Dystroglycanopathy , Type a, 2:75
ClinVar genetic disease variations for Muscular Dystrophy-Dystroglycanopathy , Type a, 2:6 (show top 50) (show all 198)
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Search
GEO
for disease gene expression data for Muscular Dystrophy-Dystroglycanopathy , Type a, 2.
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