MCID: ACR006
MIFTS: 45

Aceruloplasminemia malady

Genetic category

Summaries for Aceruloplasminemia

Sources:
8Disease Ontology, 43NIH Rare Diseases, 21Genetics Home Reference, 64Wikipedia, 47OMIM, 19GeneReviews, 33MalaCards
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NIH Rare Diseases:43 Aceruloplasminemia is a disorder of iron metabolism. this disorder causes iron to build-up in the body. signs and symptoms begin in adulthood. people with this disorder tend to develop anemia and diabetes in their 20's. as the condition progresses, movement problems are common, such as tremors, chorea, ataxia, eyelid twitching, and grimacing. some experience psychiatric problems and dementia in their 40's and 50's. eye examination may reveal changes in the retina, but these changes typically do not affect vision. aceruloplasminemia is caused by mutations in the cp gene and are inherited in an autosomal recessive fashion. last updated: 8/3/2011

MalaCards: Aceruloplasminemia, also known as systemic hemosiderosis due to aceruloplasminemia, is related to hemosiderosis and wilson disease. An important gene associated with Aceruloplasminemia is CP (ceruloplasmin (ferroxidase)), and among its related pathways are Oxidative Stress and superoxide radicals degradation. The compounds glutathion and ferrous ammonium sulfate have been mentioned in the context of this disorder. Affiliated tissues include brain, retina and liver, and related mouse phenotypes are vision/eye and liver/biliary system.

Disease Ontology:8 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.

Genetics Home Reference:21 Aceruloplasminemia is a disorder in which iron gradually accumulates in the brain and other organs. Iron accumulation in the brain results in neurological problems that generally appear in adulthood and worsen over time.

Wikipedia:64 Aceruloplasminemia is an autosomal recessive disorder of iron metabolism characterized by progressive... more...

Description from OMIM:47 604290

GeneReviews summary for acp

Aliases & Classifications for Aceruloplasminemia

Sources:
8Disease Ontology, 64Wikipedia, 19GeneReviews, 43NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 47OMIM, 10DISEASES, 61UMLS
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic


Aliases & Descriptions:

aceruloplasminemia 8 64 19 43 20 21 10
systemic hemosiderosis due to aceruloplasminemia 43 22 21
familial apoceruloplasmin deficiency 43 21 61
hypoceruloplasminemia 43 21 61
hereditary ceruloplasmin deficiency 43 21
ceruloplasmin deficiency 43 61
hemosiderosis, systemic, due to aceruloplasminemia 47
deficiency of ferroxidase 21


External Ids:

Disease Ontology8 DOID:0050711
OMIM47 604290

Related Diseases for Aceruloplasminemia

Sources:
17GeneCards, 18GeneDecks
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Diseases related to Aceruloplasminemia via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 55)
idRelated DiseaseScoreTop Affiliating Genes
1hemosiderosis30.5CP, TF
2wilson disease30.2SOD1, TF, CP
3pantothenate kinase-associated neurodegeneration30.0PANK2, FA2H
4hemochromatosis30.0HEPH, HAMP, TF, TFR2, HFE2, CP
5blepharospasm10.2
6ataxia10.0
7chorea10.0
8diabetes insipidus10.0
9dementia10.0CP
10cystic fibrosis10.0CP
11malaria10.0CP
12age related macular degeneration10.0HEPH
13laryngeal carcinoma10.0CP
14eales disease10.0SOD1
15cataract10.0SOD1
16bronchopulmonary dysplasia10.0SOD1
17hemochromatosis type 210.0HFE2, HAMP
18neuroacanthocytosis10.0CP, PANK2
19friedreich ataxia10.0SOD2
20vitiligo10.0SOD1
21porphyria10.0TF
22porphyria cutanea tarda10.0TF
23menkes disease10.0SOD1, CP
24pneumoconiosis10.0SOD1, CP
25arthropathy10.0TF
26acute pancreatitis10.0SOD1
27hepatitis10.0SOD2, CP
28microcytic anemia10.0TF
29hypogonadism10.0TF
30sickle cell disease10.0TF
31obesity10.0SOD2
32arthritis10.0SOD2, TFR2
33thalassemia10.0TF, HAMP
34hypochromic microcytic anemia10.0TF, CP
35iron metabolism disease10.0TF, HFE2
36iron deficiency anemia10.0HEPH, TF
37siderosis10.0TF, CP
38ischemia10.0SOD1, SOD2
39retinal degeneration10.0CP, PANK2, HEPH
40movement disease10.0CP, PANK2
41protein-energy malnutrition10.0TF
42beta thalassemia10.0TFR2, TF
43down syndrome10.0SOD1, SOD2
44bronchitis10.0CP, HFE2, TF
45uremia10.0SOD1, TF
46liver cirrhosis10.0CP, TFR2, TF
47amyotrophic lateral sclerosis10.0SOD2, SOD1, SLC33A1
48vascular disease10.0TF, SOD2
49atransferrinemia10.0TFR2, TF, HEPH
50galactosemia10.0SOD2, HAMP, TF

Graphical network of the top 20 diseases related to Aceruloplasminemia:



Diseases related to aceruloplasminemia

Clinical Features for Aceruloplasminemia

Sources:
47OMIM
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Clinical features from OMIM:

604290

Drugs & Therapeutics for Aceruloplasminemia

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Aceruloplasminemia

Drug clinical trials:

Search ClinicalTrials for Aceruloplasminemia

Search NIH Clinical Center for Aceruloplasminemia

Search CenterWatch for Aceruloplasminemia

Genetic Tests for Aceruloplasminemia

Sources:
20GeneTests, 22GTR
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Genetic tests related to Aceruloplasminemia:

id Genetic test Affiliating Genes
1 Aceruloplasminemia20 CP
2 Hemosiderosis, Systemic, Due To Aceruloplasminemia22

Anatomical Context for Aceruloplasminemia

Sources:
33MalaCards
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MalaCards organs/tissues related to Aceruloplasminemia:

33
Brain, Retina, Liver

Animal Models for Aceruloplasminemia or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
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MGI Mouse Phenotypes related to Aceruloplasminemia:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053917.6CP, PANK2, FA2H, SOD1, SOD2, HEPH
2MP:00053707.3CP, PANK2, HFE2, TFR2, SOD1, SOD2
3MP:00053876.8CP, PANK2, HFE2, TFR2, HAMP, SOD1
4MP:00053976.6HAMP, SOD2, SOD1, TF, TFR2, HFE2
5MP:00053766.1PANK2, HFE2, HEPH, TF, HAMP, CP

Publications for Aceruloplasminemia

Sources:
51PubMed
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Articles related to Aceruloplasminemia:

(show top 50)    (show all 61)
idTitleAuthorsYear
1
Novel ceruloplasmin mutation causing aceruloplasminemia with hepatic iron overload and diabetes without neurological symptoms. (23557349)
2013
2
Teaching NeuroImages: neurodegeneration with brain iron accumulation in aceruloplasminemia. (24218322)
2013
3
Aceruloplasminemia: an update. (24209437)
2013
4
Case of presymptomatic aceruloplasminemia treated with deferasirox. (24341521)
2013
5
Effectiveness of oral iron chelator treatment with deferasirox in an aceruloplasminemia patient with a novel ceruloplasmin gene mutation. (23812204)
2013
6
Brain and liver iron accumulation in aceruloplasminemia. (24323439)
2013
7
Aceruloplasminemia. (22515740)
2012
8
Extensive brain pathology in a patient with aceruloplasminemia with a prolonged duration of illness. (21889188)
2012
9
Criteria for early identification of aceruloplasminemia. (21720062)
2011
10
Desferrioxamine treatment of aceruloplasminemia: Long-term follow-up. (21594898)
2011
11
Aceruloplasminemia: a rare disease - diagnosis and treatment of two cases. (23049345)
2011
12
Aceruloplasminemia: retinal histopathologic manifestations and iron-mediated melanosome degradation. (22084216)
2011
13
Hepatic but not brain iron is rapidly chelated by deferasirox in aceruloplasminemia due to a novel gene mutation. (20801540)
2010
14
Central diabetes insipidus and hypothalamic hypothyroidism associated with aceruloplasminemia. (20686294)
2010
15
Dominant mutants of ceruloplasmin impair the copper loading machinery in aceruloplasminemia. (19095659)
2009
16
Aceruloplasminemia: a novel mutation in a family with marked phenotypic variability. (18200628)
2008
17
Aceruloplasminemia: a case report. (18408989)
2008
18
Microglia and astroglia prevent oxidative stress-induced neuronal cell death: implications for aceruloplasminemia. (18187051)
2008
19
Cys-881 is essential for the trafficking and secretion of truncated mutant ceruloplasmin in aceruloplasminemia. (17637479)
2007
20
Movement disorder due to aceruloplasminemia and incorrect diagnosis of hereditary hemochromatosis. (17508145)
2007
21
Treatment of symptomatic heterozygous aceruloplasminemia with oral zinc sulphate. (17307325)
2007
22
Identification and in silico characterization of a novel compound heterozygosity associated with hereditary aceruloplasminemia. (17710675)
2007
23
Molecular and pathological basis of aceruloplasminemia. (16629161)
2006
24
Aceruloplasminemia (hereditary ceruloplasmin deficiency) and diabetes mellitus]. (17022509)
2006
25
Hepatic iron overload associated with a decreased serum ceruloplasmin level in a novel clinical type of aceruloplasminemia. (16831606)
2006
26
Iron overload and antioxidative role of perivascular astrocytes in aceruloplasminemia. (16599945)
2006
27
Schizophrenia-like psychosis and aceruloplasminemia. (19412506)
2006
28
Biochemical features of ceruloplasmin gene mutations linked to aceruloplasminemia. (16775387)
2006
29
MR imaging of cerebral cortical involvement in aceruloplasminemia. (15760883)
2005
30
Frontal lobe dysfunction associated with glucose hypometabolism in aceruloplasminemia. (15765266)
2005
31
Aceruloplasminemia: an inherited neurodegenerative disease with impairment of iron homeostasis. (15105274)
2004
32
A fungal multicopper oxidase restores iron homeostasis in aceruloplasminemia. (14739215)
2004
33
Aceruloplasminemia, an inherited disorder of iron metabolism. (12572680)
2003
34
Aceruloplasminemia, an iron metabolic disorder. (14719552)
2003
35
Aceruloplasminemia. (12614942)
2003
36
Aceruloplasminemia with juvenile-onset diabetes mellitus caused by exon skipping in the ceruloplasmin gene. (12879954)
2003
37
Not all absent serum ceruloplasmin is Wilson disease: a review of aceruloplasminemia. (12227652)
2002
38
The copper-iron connection: hereditary aceruloplasminemia. (12382203)
2002
39
Biochemical analysis of a missense mutation in aceruloplasminemia. (11689569)
2002
40
Aceruloplasminemia: new clinical, pathophysiological and therapeutic insights. (12044538)
2002
41
Astrocytic deformity and globular structures are characteristic of the brains of patients with aceruloplasminemia. (12484569)
2002
42
Defective electron transfer in complexes I and IV in patients with aceruloplasminemia. (11102640)
2000
43
Aceruloplasminemia with a novel mutation associated with parkinsonism. (10983721)
2000
44
Estimation of the gene frequency of aceruloplasminemia in Japan. (10449129)
1999
45
Aceruloplasminemia. (9727700)
1998
46
Increased very long-chain fatty acids in erythrocyte membranes of patients with aceruloplasminemia. (9443469)
1998
47
Aceruloplasminemia: an inherited neurodegenerative disease with impairment of iron homeostasis. (9587138)
1998
48
Use of desferrioxamine in the treatment of aceruloplasminemia. (9066364)
1997
49
Late onset diabetes mellitus in patients with hereditary aceruloplasminemia. (8894739)
1996
50
Aceruloplasminemia: molecular characterization of this disorder of iron metabolism. (7708681)
1995

Genetic Variations for Aceruloplasminemia

Expression for genes affiliated with Aceruloplasminemia

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Aceruloplasminemia

Search GEO for disease gene expression data for Aceruloplasminemia.

Pathways for genes affiliated with Aceruloplasminemia

Sources:
38NCBI BioSystems Database, 54Reactome
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Compounds for genes affiliated with Aceruloplasminemia

Sources:
45Novoseek, 24HMDB, 11DrugBank
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Compounds related to Aceruloplasminemia according to GeneCards/GeneDecks:

(show top 50)    (show all 55)
idCompoundScoreTop Affiliating Genes
1glutathion4510.3SOD2
2ferrous ammonium sulfate4510.1TF, CP
3ferrozine4510.1TF, CP
4apotransferrin4510.0CP, TF
5ferric ammonium citrate4510.0TF, CP
6dmpo-oh4510.0CP, SOD1
7randox4510.0SOD1, CP
8thiobarbituric acid459.9CP, SOD1
9carnosine45 2410.9SOD1, CP
10lutein459.9CP, SOD2
11sodium azide459.8SOD1, CP
12mntmpyp459.8SOD1, SOD2
13azide459.8CP, SOD1
14zinc superoxide459.8SOD1, SOD2
15pyrogallol459.8SOD2, SOD1
16propyl gallate459.8SOD2, SOD1
173-nitrotyrosine459.7SOD2, SOD1
183-amino-1,2,4-triazole459.7SOD2, SOD1
19onoo459.7SOD1, SOD2
20antimycin a459.6SOD2, SOD1
21dmpo459.6SOD2, SOD1, CP
22dicoumarol459.5SOD1, SOD2
23hypoxanthine45 11 2411.5SOD2, CP, SOD1
24suprofen45 1110.5CP, SOD1, TF
25malondialdehyde459.5SOD2, SOD1, CP
26pdtc459.5SOD1, CP, SOD2
27dtpa459.5CP, SOD1, TF
28trolox459.5SOD2, SOD1
29citrate459.4SOD2, TF, CP
30levodopa45 1110.4SOD1, TF, CP
31hydroquinone45 2410.4SOD2, SOD1
32fe3+459.4CP, TF
338-oxo-dg459.3SOD2, SOD1
34selenite459.3SOD2, SOD1, TF
35folate459.2SOD2, TF, CP
36deferoxamine45 1110.2CP, SOD1, TF, TFR2
37adriamycin459.1SOD1, SOD2, TF
38fenton459.1TF, SOD1, SOD2, CP
39dehydroascorbic acid45 1110.1CP, TF, SOD1, SOD2
40tocopherol459.1SOD2, CP, TF, SOD1
41selenium45 2410.0CP, SOD2, SOD1, TF
42betacarotene459.0TF, SOD2, SOD1, CP
43alpha tocopherol459.0TF, SOD2, SOD1, CP
44sodium nitroprusside459.0CP, SOD1, TF, SOD2
45vitamin a45 11 2411.0CP, SOD1, TF, SOD2
46ascorbic acid45 2410.0CP, SOD2, TF, SOD1
47lactate458.8SOD1, CP, SOD2, TF
48creatinine458.7CP, SOD2, TF, HAMP, SOD1
49copper45 249.2CP, SOD2, SOD1, TF, HEPH
50iron45 247.1CP, SFXN1, HEPH, TF, SOD2, SOD1

GO Terms for genes affiliated with Aceruloplasminemia

Sources:
16Gene Ontology
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Biological processes related to Aceruloplasminemia according to GeneCards/GeneDecks:

(show all 13)
idNameGO IDScoreTop Affiliating Genes
1peripheral nervous system myelin maintenanceGO:0322879.7SOD1, FA2H
2hydrogen peroxide biosynthetic processGO:0506659.6SOD2, SOD1
3removal of superoxide radicalsGO:0194309.6SOD1, SOD2
4copper ion transportGO:0068259.5HEPH, CP
5superoxide anion generationGO:0425549.5SOD1, SOD2
6regulation of mitochondrial membrane potentialGO:0518819.5SOD2, SOD1
7iron ion homeostasisGO:0550729.5SFXN1, SOD2, HFE2
8superoxide metabolic processGO:0068019.4SOD1, SOD2
9response to axon injuryGO:0486789.4SOD1, SOD2
10cell deathGO:0082199.3PANK2, FA2H, SLC33A1
11iron ion transportGO:0068269.0SFXN1, HEPH, TFR2
12transmembrane transportGO:0550858.2TF, SLC33A1, CP, HEPH
13cellular iron ion homeostasisGO:0068797.9HEPH, SOD1, HAMP, TF, TFR2, CP

Molecular functions related to Aceruloplasminemia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1superoxide dismutase activityGO:0047849.4SOD1, SOD2
2copper ion bindingGO:0055078.5CP, SOD1, HEPH

Products for genes affiliated with Aceruloplasminemia

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Sources for Aceruloplasminemia

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet