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aceruloplasminemia

Disease Summary
Associated Targets (3)
Tbio

2

Tchem

1


GARD Rare
Mondo Description Aceruloplasminemia is an adult-onset disorder of neurodegeneration with brain iron accumulation (NBIA) characterized by anemia, retinal degeneration, diabetes and various neurological symptoms.
Uniprot Description An autosomal recessive disorder of iron metabolism characterized by iron accumulation in the brain as well as visceral organs. Clinical features consist of the triad of retinal degeneration, diabetes mellitus and neurological disturbances.
Disease Ontology Description An iron metabolism disease that has_material_basis_in a mutation in the ceruloplasmin gene characterized by progressive neurodegeneration of the retina and basal ganglia and diabetes mellitus.
Mondo Term and Equivalent IDs
MONDO:0011426:  aceruloplasminemia
GARD:0009499: 
Orphanet:48818: 
SCTID:124224004: