MCID: ACR006
MIFTS: 51

Aceruloplasminemia malady

Genetic diseases category

Summaries for Aceruloplasminemia

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8Disease Ontology, 42NIH Rare Diseases, 21Genetics Home Reference, 63Wikipedia, 46OMIM, 19GeneReviews, 32MalaCards
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NIH Rare Diseases:42 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 hepatitis. 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 retina, brain and eye, 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:63 Aceruloplasminemia is a rare autosomal recessive disorder in which iron gradually accumulates in the... more...

Description from OMIM:46 604290

GeneReviews summary for acp

Aliases & Classifications for Aceruloplasminemia

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8Disease Ontology, 63Wikipedia, 19GeneReviews, 42NIH Rare Diseases, 20GeneTests, 21Genetics Home Reference, 10DISEASES, 60UMLS, 22GTR, 46OMIM
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Classifications:

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


Aliases & Descriptions:

aceruloplasminemia 8 63 19 42 20 21 10
systemic hemosiderosis due to aceruloplasminemia 42 22 21
familial apoceruloplasmin deficiency 42 21 60
hypoceruloplasminemia 42 21 60
hereditary ceruloplasmin deficiency 42 21
ceruloplasmin deficiency 42 60
hemosiderosis, systemic, due to aceruloplasminemia 46
deficiency of ferroxidase 21


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Disease Ontology8 DOID:0050711
OMIM46 604290

Related Diseases for Aceruloplasminemia

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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 61)
idRelated DiseaseScoreTop Affiliating Genes
1hemosiderosis30.5CP, TF
2hepatitis30.2CP, SOD2
3dementia30.2CP
4retinal degeneration30.2PANK2, CP, HEPH
5movement disease30.0CP, PANK2
6pantothenate kinase-associated neurodegeneration29.9PANK2, FA2H
7wilson disease29.9SOD1, TF, CP
8hemochromatosis29.9HFE2, TFR2, CP, HAMP, TF, HEPH
9blepharospasm10.2
10diabetes mellitus10.2
11hepatitis a10.1
12cystic fibrosis10.0CP
13malaria10.0CP
14age related macular degeneration10.0HEPH
15laryngeal benign neoplasm10.0CP
16eales disease10.0SOD1
17cataract10.0SOD1
18bronchopulmonary dysplasia10.0SOD1
19hemochromatosis type 210.0HAMP, HFE2
20neuroacanthocytosis10.0CP, PANK2
21friedreich ataxia10.0SOD2
22vitiligo10.0SOD1
23porphyria10.0TF
24porphyria cutanea tarda10.0TF
25menkes disease10.0SOD1, CP
26pneumoconiosis10.0SOD1, CP
27arthropathy10.0TF
28acute pancreatitis10.0SOD1
29microcytic anemia10.0TF
30hypogonadism10.0TF
31sickle cell disease10.0TF
32obesity10.0SOD2
33arthritis10.0SOD2, TFR2
34alpha thalassemia10.0TF, HAMP
35hypochromic microcytic anemia10.0TF, CP
36iron metabolism disease10.0HFE2, TF
37iron deficiency anemia10.0TF, HEPH
38siderosis10.0TF, CP
39ischemia10.0SOD1, SOD2
40beta thalassemia10.0TFR2, TF
41down syndrome10.0SOD2, SOD1
42bronchitis10.0CP, HFE2, TF
43uremia10.0TF, SOD1
44liver cirrhosis10.0TFR2, TF, CP
45amyotrophic lateral sclerosis10.0SLC33A1, SOD1, SOD2
46vascular disease10.0TF, SOD2
47protein-energy malnutrition10.0TF
48atransferrinemia10.0TFR2, TF, HEPH
49galactosemia10.0HAMP, TF, SOD2
50prion disease10.0CP, SOD2, TF

Graphical network of the top 20 diseases related to Aceruloplasminemia:



Diseases related to aceruloplasminemia

Clinical Features for Aceruloplasminemia

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46OMIM
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Clinical features from OMIM:

604290

Drugs & Therapeutics for Aceruloplasminemia

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Aceruloplasminemia

Drug clinical trials:

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Genetic Tests for Aceruloplasminemia

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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

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32MalaCards
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MalaCards organs/tissues related to Aceruloplasminemia:

32
Retina, Brain, Eye, Liver

Animal Models for Aceruloplasminemia or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Aceruloplasminemia:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053917.6SOD2, SOD1, FA2H, PANK2, CP, HEPH
2MP:00053707.3HEPH, SOD2, SOD1, TFR2, HFE2, PANK2
3MP:00053876.8HEPH, SOD2, SOD1, HAMP, TFR2, HFE2
4MP:00053976.6CP, HEPH, SOD2, SOD1, HAMP, TF
5MP:00053766.1HEPH, SOD2, SOD1, FA2H, HAMP, TF

Publications for Aceruloplasminemia

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50PubMed
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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
Never forget aceruloplasminemia in case of highly suggestive Wilson's disease score. (24002824)
2013
4
Aceruloplasminemia: an update. (24209437)
2013
5
Case of presymptomatic aceruloplasminemia treated with deferasirox. (24341521)
2013
6
Effectiveness of oral iron chelator treatment with deferasirox in an aceruloplasminemia patient with a novel ceruloplasmin gene mutation. (23812204)
2013
7
Brain and liver iron accumulation in aceruloplasminemia. (24323439)
2013
8
Aceruloplasminemia. (22515740)
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
Aceruloplasminemia in a Japanese woman with a novel mutation of CP gene: clinical presentations and analysis of genetic and molecular pathogenesis. (20828764)
2010
15
Iron excess treatable by copper supplementation in acquired aceruloplasminemia: a new form of secondary human iron overload? (19745082)
2009
16
Dominant mutants of ceruloplasmin impair the copper loading machinery in aceruloplasminemia. (19095659)
2009
17
Redox active iron accumulation in aceruloplasminemia. (18282164)
2008
18
Aceruloplasminemia: a case report. (18408989)
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
Schizophrenia-like psychosis and aceruloplasminemia. (19412506)
2006
27
Biochemical features of ceruloplasmin gene mutations linked to aceruloplasminemia. (16775387)
2006
28
MR imaging of cerebral cortical involvement in aceruloplasminemia. (15760883)
2005
29
Aceruloplasminemia in an asymptomatic patient with a new mutation. Diagnosis and family genetic analysis. (15885371)
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 with juvenile-onset diabetes mellitus caused by exon skipping in the ceruloplasmin gene. (12879954)
2003
36
Not all absent serum ceruloplasmin is Wilson disease: a review of aceruloplasminemia. (12227652)
2002
37
Glial fibrillary acidic protein is greatly modified by oxidative stress in aceruloplasminemia brain. (12071349)
2002
38
Biochemical analysis of a missense mutation in aceruloplasminemia. (11689569)
2002
39
Aceruloplasminemia: new clinical, pathophysiological and therapeutic insights. (12044538)
2002
40
Defective electron transfer in complexes I and IV in patients with aceruloplasminemia. (11102640)
2000
41
Increased lipid peroxidation in the brains of aceruloplasminemia patients. (10831768)
2000
42
Estimation of the gene frequency of aceruloplasminemia in Japan. (10449129)
1999
43
CSF abnormalities in patients with aceruloplasminemia. (9781556)
1998
44
Aceruloplasminemia. (9727700)
1998
45
Increased very long-chain fatty acids in erythrocyte membranes of patients with aceruloplasminemia. (9443469)
1998
46
Aceruloplasminemia: an inherited neurodegenerative disease with impairment of iron homeostasis. (9587138)
1998
47
Expression of the ceruloplasmin gene in the human retina and brain: implications for a pathogenic model in aceruloplasminemia. (8968753)
1996
48
Increased plasma lipid peroxidation in patients with aceruloplasminemia. (8721620)
1996
49
Aceruloplasminemia: molecular characterization of this disorder of iron metabolism. (7708681)
1995
50
Aceruloplasminemia (20301666)
1993

Genetic Variations for Aceruloplasminemia

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Expression for genes affiliated with Aceruloplasminemia

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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

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37NCBI BioSystems Database, 53Reactome
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Compounds for genes affiliated with Aceruloplasminemia

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44Novoseek, 24HMDB, 11DrugBank
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Compounds related to Aceruloplasminemia according to GeneCards/GeneDecks:

(show top 50)    (show all 55)
idCompoundScoreTop Affiliating Genes
1glutathion4410.3SOD2
2ferrous ammonium sulfate4410.1TF, CP
3ferrozine4410.1TF, CP
4apotransferrin4410.0CP, TF
5ferric ammonium citrate4410.0TF, CP
6dmpo-oh4410.0CP, SOD1
7randox4410.0SOD1, CP
8thiobarbituric acid449.9CP, SOD1
9carnosine44 2410.9SOD1, CP
10lutein449.9CP, SOD2
11sodium azide449.8SOD1, CP
12mntmpyp449.8SOD1, SOD2
13azide449.8CP, SOD1
14zinc superoxide449.8SOD1, SOD2
15pyrogallol449.8SOD2, SOD1
16propyl gallate449.8SOD2, SOD1
173-nitrotyrosine449.7SOD2, SOD1
183-amino-1,2,4-triazole449.7SOD2, SOD1
19onoo449.7SOD1, SOD2
20antimycin a449.6SOD2, SOD1
21dmpo449.6SOD2, SOD1, CP
22dicoumarol449.5SOD1, SOD2
23hypoxanthine44 11 2411.5SOD2, CP, SOD1
24suprofen44 1110.5CP, SOD1, TF
25malondialdehyde449.5SOD2, SOD1, CP
26pdtc449.5SOD1, CP, SOD2
27dtpa449.5CP, SOD1, TF
28trolox449.5SOD2, SOD1
29citrate449.4SOD2, TF, CP
30levodopa44 1110.4SOD1, TF, CP
31hydroquinone44 2410.4SOD2, SOD1
32fe3+449.4CP, TF
338-oxo-dg449.3SOD2, SOD1
34selenite449.3SOD2, SOD1, TF
35folate449.2SOD2, TF, CP
36deferoxamine44 1110.2CP, SOD1, TF, TFR2
37adriamycin449.1SOD1, SOD2, TF
38fenton449.1TF, SOD1, SOD2, CP
39dehydroascorbic acid44 1110.1CP, TF, SOD1, SOD2
40tocopherol449.1SOD2, CP, TF, SOD1
41selenium44 2410.0CP, SOD2, SOD1, TF
42betacarotene449.0TF, SOD2, SOD1, CP
43alpha tocopherol449.0TF, SOD2, SOD1, CP
44sodium nitroprusside449.0CP, SOD1, TF, SOD2
45vitamin a44 11 2411.0CP, SOD1, TF, SOD2
46ascorbic acid44 2410.0CP, SOD2, TF, SOD1
47lactate448.8SOD1, CP, SOD2, TF
48creatinine448.7CP, SOD2, TF, HAMP, SOD1
49copper44 249.2CP, SOD2, SOD1, TF, HEPH
50iron44 247.1CP, SFXN1, HEPH, TF, SOD2, SOD1

GO Terms for genes affiliated with Aceruloplasminemia

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

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

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3CDC
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