MDDGA12
MCID: MSC102
MIFTS: 26
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Muscular Dystrophy-Dystroglycanopathy , Type a, 12 (MDDGA12)
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, 12:
Characteristics:OMIM:57
Inheritance:
autosomal recessive
Miscellaneous:
onset at birth clinical variability three unrelated families have been reported (last curated november 2014) HPO:32
muscular dystrophy-dystroglycanopathy , type a, 12:
Onset and clinical course congenital 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 dystrophy-dystroglycanopathy with brain and eye anomalies (type A) is an autosomal recessive disorder with congenital muscular dystrophy resulting in muscle weakness early in life and brain and eye anomalies. It is usually associated with delayed psychomotor development and shortened life expectancy. The phenotype includes the alternative clinical designations Walker-Warburg syndrome (WWS) and muscle-eye-brain disease (MEB). The disorder represents the most severe end of a phenotypic spectrum of similar disorders resulting from defective glycosylation of alpha-dystroglycan (DAG1; 128239), collectively known as dystroglycanopathies (summary by Stevens et al., 2013).
For a general phenotypic description and a discussion of genetic heterogeneity of muscular dystrophy-dystroglycanopathy type A, see MDDGA1 (236670). (615249)
MalaCards based summary : Muscular Dystrophy-Dystroglycanopathy , Type a, 12, is also known as mddga12. An important gene associated with Muscular Dystrophy-Dystroglycanopathy , Type a, 12 is POMK (Protein-O-Mannose Kinase). Affiliated tissues include eye and brain, and related phenotypes are agenesis of corpus callosum and hydrocephalus UniProtKB/Swiss-Prot : 75 Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A12: 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:615249Human phenotypes related to Muscular Dystrophy-Dystroglycanopathy , Type a, 12:32 (show all 25)
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MalaCards organs/tissues related to Muscular Dystrophy-Dystroglycanopathy , Type a, 12:41
Eye,
Brain
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UniProtKB/Swiss-Prot genetic disease variations for Muscular Dystrophy-Dystroglycanopathy , Type a, 12:75
ClinVar genetic disease variations for Muscular Dystrophy-Dystroglycanopathy , Type a, 12:6 (show top 50) (show all 77)
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Search
GEO
for disease gene expression data for Muscular Dystrophy-Dystroglycanopathy , Type a, 12.
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