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muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4
Disease Summary
Associated Targets (14)
Tbio
14
Mondo Description Fukuyama type muscular dystrophy (FCMD) is a congenital progressive muscular dystrophy characterized by brain malformation (cobblestone lissencephaly), dystrophic changes in skeletal muscle, severe intellectual deficit, epilepsy and motor impairment.
Uniprot Description 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.
Disease Ontology Description A congenital muscular dystrophy that is characterized by muscle weakness, failure to thrive, severe intellectual and developmental disability, impaired vision and cardiac abnormalities and has_material_basis_in mutation in the FKTN gene that produces the fukutin protein.
Mondo Term and Equivalent IDs
MONDO:0009678: muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4
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Counts of Target Development Levels for diseases known to be associated with this disease. If the disease has a valid DOID, targets known to be associated with all child diseases are aggregated. Click "Explore Associated Targets" to view more facets and details for the target list.
Description from Mondo Disease Ontology.
Description from UniProt.
Description from Disease Ontology
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
DOID:0050559
NCIT:C126741
OMIM:253800
Orphanet:272
SCTID:111502003
UMLS:C0410174
MONDO:0009678
High level summary of knowledge for a disease, including descriptions and datasource references.