MDDGA3
MCID: MSC045
MIFTS: 37
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Muscular Dystrophy-Dystroglycanopathy , Type a, 3 (MDDGA3)
Categories:
Cardiovascular diseases, Eye diseases, Fetal diseases, Genetic diseases, Mental diseases, Metabolic diseases, Muscle diseases, Neuronal diseases, Rare diseases, Respiratory diseases
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MalaCards integrated aliases for Muscular Dystrophy-Dystroglycanopathy , Type a, 3:
Characteristics:Inheritance:
Autosomal recessive 57
OMIM®:57 (Updated 08-Dec-2022)
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 two patients with a wws phenotype have been reported Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases Fetal diseases Anatomical: Eye diseases Neuronal diseases Muscle diseases Respiratory diseases Cardiovascular diseases Mental diseases |
OMIM®: 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' (summary by Godfrey et al., 2007). For a general phenotypic description and a discussion of genetic heterogeneity of muscular dystrophy-dystroglycanopathy type A, see MDDGA1 (236670). (253280) (Updated 08-Dec-2022) MalaCards based summary: Muscular Dystrophy-Dystroglycanopathy , Type a, 3, also known as muscular dystrophy-dystroglycanopathy , type a3, is related to congenital muscular dystrophy-dystroglycanopathy type a3 and muscle eye brain disease, and has symptoms including seizures An important gene associated with Muscular Dystrophy-Dystroglycanopathy , Type a, 3 is POMGNT1 (Protein O-Linked Mannose N-Acetylglucosaminyltransferase 1 (Beta 1,2-)). Affiliated tissues include eye, brain and pons, and related phenotypes are seizure and hydrocephalus UniProtKB/Swiss-Prot: 73 An autosomal recessive disorder characterized by congenital muscular dystrophy, ocular abnormalities, cobblestone lissencephaly, and cerebellar and pontine hypoplasia. Patients present severe congenital myopia, congenital glaucoma, pallor of the optic disks, retinal hypoplasia, intellectual disability, hydrocephalus, abnormal electroencephalograms, generalized muscle weakness and myoclonic jerks. Included diseases are the more severe Walker-Warburg syndrome and the slightly less severe muscle-eye-brain disease. |
Human phenotypes related to Muscular Dystrophy-Dystroglycanopathy , Type a, 3:30 (show all 49)
Symptoms via clinical synopsis from OMIM®:57 (Updated 08-Dec-2022)Clinical features from OMIM®:253280 (Updated 08-Dec-2022)UMLS symptoms related to Muscular Dystrophy-Dystroglycanopathy , Type a, 3:seizures |
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Organs/tissues related to Muscular Dystrophy-Dystroglycanopathy , Type a, 3:
MalaCards :
Eye,
Brain,
Pons,
Retina
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Articles related to Muscular Dystrophy-Dystroglycanopathy , Type a, 3:(show all 27)
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ClinVar genetic disease variations for Muscular Dystrophy-Dystroglycanopathy , Type a, 3:5 (show top 50) (show all 68)
UniProtKB/Swiss-Prot genetic disease variations for Muscular Dystrophy-Dystroglycanopathy , Type a, 3:73 (show all 12)
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Search
GEO
for disease gene expression data for Muscular Dystrophy-Dystroglycanopathy , Type a, 3.
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