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MDDGA9
MCID: MSC127
MIFTS: 25
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Muscular Dystrophy-Dystroglycanopathy , Type a, 9 (MDDGA9)
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, 9:
Characteristics:Orphanet epidemiological data:59
muscle-eye-brain disease with bilateral multicystic leucodystrophy
Prevalence: <1/1000000 (Worldwide); OMIM:57
Inheritance:
autosomal recessive
Miscellaneous:
onset in infancy variable severity death in first days of life (family b) two unrelated families have been reported (last curated august 2015) HPO:32
muscular dystrophy-dystroglycanopathy , type a, 9:
Onset and clinical course variable expressivity infantile onset Inheritance autosomal recessive inheritance Classifications:
MalaCards categories:
Global: Genetic diseases Fetal diseases Rare diseases Metabolic diseases Anatomical: Neuronal diseases Eye diseases Muscle diseases Mental diseases
ICD10:
34
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OMIM
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57
Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A) is an autosomal recessive disorder with characteristic brain and eye malformations, profound mental retardation, and congenital muscular dystrophy. The phenotype includes the alternative clinical designation Walker-Warburg syndrome (WWS), which is associated with death in infancy. The disorder represents the most severe end of a phenotypic spectrum of similar disorders resulting from defective glycosylation of alpha-dystroglycan (DAG1), collectively known as 'dystroglycanopathies' (summary by Geis et al., 2013 and Riemersma et al., 2015).
For a general phenotypic description and a discussion of genetic heterogeneity of muscular dystrophy-dystroglycanopathy type A, see MDDGA1 (236670). (616538)
MalaCards based summary : Muscular Dystrophy-Dystroglycanopathy , Type a, 9, is also known as walker-warburg syndrome or muscle-eye brain disease, dag1-related. An important gene associated with Muscular Dystrophy-Dystroglycanopathy , Type a, 9 is DAG1 (Dystroglycan 1). Affiliated tissues include eye, brain and pons, and related phenotypes are macrocephaly and hydrocephalus UniProtKB/Swiss-Prot : 75 Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A9: 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:616538Human phenotypes related to Muscular Dystrophy-Dystroglycanopathy , Type a, 9:32 (show all 22)
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MalaCards organs/tissues related to Muscular Dystrophy-Dystroglycanopathy , Type a, 9:41
Eye,
Brain,
Pons
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Genes related to Muscular Dystrophy-Dystroglycanopathy , Type a, 9 (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, 9:75
ClinVar genetic disease variations for Muscular Dystrophy-Dystroglycanopathy , Type a, 9:6 (show top 50) (show all 158)
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Search
GEO
for disease gene expression data for Muscular Dystrophy-Dystroglycanopathy , Type a, 9.
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