Details of Disease

General Information of Disease (ID: DISDVY3R)

Disease Name Aceruloplasminemia
Synonyms
ceruloplasmin deficiency; familial apoceruloplasmin deficiency; hemosiderosis, systemic, due to aceruloplasminemia; systemic hemosiderosis due to aceruloplasminemia; hypoceruloplasminemia; cerebellar ataxia; hereditary ceruloplasmin deficiency; aceruloplasminemia; hypoceruloplasminemia, hereditary
Definition An adult-onset disorder of neurodegeneration with brain iron accumulation (NBIA) characterized by anemia, retinal degeneration, diabetes and various neurological symptoms.
Disease Hierarchy
DIS1L24B: Eye degenerative disorder
DISQL71U: Inherited deficiency anemia
DISGGL77: Inherited retinal dystrophy
DIS372GD: Disorder of iron metabolism and transport
DISRK4DZ: Neurodegeneration with brain iron accumulation
DISDVY3R: Aceruloplasminemia
Disease Identifiers
MONDO ID
MONDO_0011426
MESH ID
C536004
UMLS CUI
C0878682
OMIM ID
604290
MedGen ID
168057
HPO ID
HP:0025498
Orphanet ID
48818
SNOMED CT ID
124224004

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
HAMP TTRV5YJ Strong Altered Expression [1]
SLC40A1 TT6Y1PG Strong Biomarker [2]
------------------------------------------------------------------------------------
This Disease Is Related to 2 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
PANK2 OTFBW889 Strong Biomarker [3]
CP OTM8JE4Y Definitive Autosomal recessive [4]
------------------------------------------------------------------------------------

References

1 Hepatic but not brain iron is rapidly chelated by deferasirox in aceruloplasminemia due to a novel gene mutation.J Hepatol. 2010 Dec;53(6):1101-7. doi: 10.1016/j.jhep.2010.04.039. Epub 2010 Aug 4.
2 Biological effects of mutant ceruloplasmin on hepcidin-mediated internalization of ferroportin.Biochim Biophys Acta. 2010 Nov;1802(11):968-75. doi: 10.1016/j.bbadis.2010.07.011. Epub 2010 Jul 22.
3 Current state of knowledge in Chorea-Acanthocytosis as core Neuroacanthocytosis syndrome.Eur J Med Genet. 2018 Nov;61(11):699-705. doi: 10.1016/j.ejmg.2017.12.007. Epub 2017 Dec 16.
4 Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.