MCID: ACR006
MIFTS: 54

Aceruloplasminemia malady

Genetic diseases, Rare diseases categories
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Summaries for Aceruloplasminemia

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8Disease Ontology, 21Genetics Home Reference, 43NIH Rare Diseases, 65Wikipedia, 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 retinal degeneration. An important gene associated with Aceruloplasminemia is CP (ceruloplasmin (ferroxidase)), and among its related pathways are HIF-1-alpha transcription factor network and Mechanisms of CFTR activation by S nitrosoglutathione normal and CF . The compounds ferrozine 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 pigmentation and cardiovascular 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:65 Aceruloplasminemia is a rare autosomal recessive disorder in which iron gradually accumulates in the... more...

Description from OMIM:47 604290

GeneReviews summary for acp

Aliases & Classifications for Aceruloplasminemia

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8Disease Ontology, 65Wikipedia, 19GeneReviews, 43NIH Rare Diseases, 20GeneTests, 21Genetics Home Reference, 10DISEASES, 62UMLS, 22GTR, 47OMIM
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Classifications:

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


Aliases & Descriptions:

aceruloplasminemia 8 65 19 43 20 21 10
systemic hemosiderosis due to aceruloplasminemia 43 22 21
familial apoceruloplasmin deficiency 43 21 62
hypoceruloplasminemia 43 21 62
hereditary ceruloplasmin deficiency 43 21
ceruloplasmin deficiency 43 62
hemosiderosis, systemic, due to aceruloplasminemia 47
deficiency of ferroxidase 21


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Disease Ontology8 DOID:0050711
OMIM47 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 all 47)
idRelated DiseaseScoreTop Affiliating Genes
1hemosiderosis30.6CP, TF
2retinal degeneration30.3PANK2, HEPH, CP
3hepatitis30.3TFR2, TF
4diabetes mellitus30.2SOD1, CP, SOD2, TF
5pantothenate kinase-associated neurodegeneration30.1PANK2, FA2H
6wilson disease30.0TF, CP, SOD1
7hemochromatosis29.8TF, TFR2, HEPH, HFE2, CP, HAMP
8blepharospasm10.2
9dementia10.2
10eales disease10.1SOD1
11hemochromatosis type 210.1HAMP, HFE2
12neuroacanthocytosis10.1PANK2, CP
13porphyria cutanea tarda10.1TF
14movement disease10.1PANK2, CP
15pneumoconiosis10.1CP, SOD1
16menkes disease10.1SOD1, CP
17ataxia10.0
18chorea10.0
19hypochromic microcytic anemia10.0TF, CP
20iron metabolism disease10.0TF, HFE2
21siderosis10.0TF, CP
22iron deficiency anemia10.0HEPH, TF
23beta thalassemia10.0TFR2, TF
24alpha thalassemia10.0TF, HAMP
25newborn respiratory distress syndrome10.0CP, TF
26hypogonadism10.0TF
27galactosemia10.0CP, TF
28motor neuron disease10.0SOD2, SOD1
29hemolytic anemia10.0TF, CP
30bronchitis10.0TF, CP, HFE2
31diabetes insipidus10.0
32neuronitis10.0
33cerebritis10.0
34cerebellar ataxia10.0
35hypothyroidism10.0
36retinitis10.0
37schizophrenia10.0
38liver cirrhosis10.0TF, CP, TFR2
39diabetic retinopathy10.0SOD2, SOD1
40atransferrinemia10.0HEPH, TF, TFR2
41parkinson's disease10.0SOD1, CP, SOD2
42uremia10.0SOD1, TF
43prion disease10.0TF, CP, SOD2
44cork-handlers' disease10.0SOD2, TF
45alcoholic liver cirrhosis9.9SOD1, SOD2, TF
46hepatitis c9.9TF, HAMP, TFR2, SOD2
47deficiency anemia9.8TFR2, HAMP, HFE2, HEPH, SOD2, CP

Graphical network of the top 20 diseases related to Aceruloplasminemia:



Diseases related to aceruloplasminemia

Symptoms for Aceruloplasminemia

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47OMIM
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Clinical features from OMIM:

604290

Drugs & Therapeutics for Aceruloplasminemia

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42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

Search ClinicalTrials for Aceruloplasminemia

Search NIH Clinical Center for Aceruloplasminemia

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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33MalaCards
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MalaCards organs/tissues related to Aceruloplasminemia:

33
Retina, Brain, Eye, Liver

Animal Models for Aceruloplasminemia or affiliated genes

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37MGI
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MGI Mouse Phenotypes related to Aceruloplasminemia:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00011868.6HEPH, SOD2, CP
2MP:00053858.0SOD1, SOD2, CP, HFE2, HEPH
3MP:00053917.5FA2H, SOD2, CP, SOD1, PANK2, HEPH
4MP:00036317.4HEPH, PANK2, FA2H, SOD2, CP, SOD1
5MP:00053707.4HEPH, SOD1, HFE2, TFR2, CP, PANK2
6MP:00053877.0HAMP, CP, SOD2, SOD1, PANK2, HEPH
7MP:00053976.6TF, HFE2, HEPH, PANK2, SOD2, CP
8MP:00053766.2FA2H, HEPH, PANK2, SOD1, SOD2, CP

Publications for Aceruloplasminemia

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52PubMed
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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
Aceruloplasminemia. (22515740)
2012
8
Criteria for early identification of aceruloplasminemia. (21720062)
2011
9
Desferrioxamine treatment of aceruloplasminemia: Long-term follow-up. (21594898)
2011
10
Aceruloplasminemia: a rare disease - diagnosis and treatment of two cases. (23049345)
2011
11
Hepatic but not brain iron is rapidly chelated by deferasirox in aceruloplasminemia due to a novel gene mutation. (20801540)
2010
12
Central diabetes insipidus and hypothalamic hypothyroidism associated with aceruloplasminemia. (20686294)
2010
13
Aceruloplasminemia in a Japanese woman with a novel mutation of CP gene: clinical presentations and analysis of genetic and molecular pathogenesis. (20828764)
2010
14
Iron excess treatable by copper supplementation in acquired aceruloplasminemia: a new form of secondary human iron overload? (19745082)
2009
15
Aceruloplasminemia: a novel mutation in a family with marked phenotypic variability. (18200628)
2008
16
Redox active iron accumulation in aceruloplasminemia. (18282164)
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
MR imaging of cerebral cortical involvement in aceruloplasminemia. (15760883)
2005
28
Aceruloplasminemia in an asymptomatic patient with a new mutation. Diagnosis and family genetic analysis. (15885371)
2005
29
Aceruloplasminemia: an inherited neurodegenerative disease with impairment of iron homeostasis. (15105274)
2004
30
A fungal multicopper oxidase restores iron homeostasis in aceruloplasminemia. (14739215)
2004
31
Aceruloplasminemia, an inherited disorder of iron metabolism. (12572680)
2003
32
Aceruloplasminemia, an iron metabolic disorder. (14719552)
2003
33
Aceruloplasminemia. (12614942)
2003
34
Aceruloplasminemia with juvenile-onset diabetes mellitus caused by exon skipping in the ceruloplasmin gene. (12879954)
2003
35
Not all absent serum ceruloplasmin is Wilson disease: a review of aceruloplasminemia. (12227652)
2002
36
The copper-iron connection: hereditary aceruloplasminemia. (12382203)
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
Defective electron transfer in complexes I and IV in patients with aceruloplasminemia. (11102640)
2000
40
Increased lipid peroxidation in the brains of aceruloplasminemia patients. (10831768)
2000
41
Aceruloplasminemia with a novel mutation associated with parkinsonism. (10983721)
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
Use of desferrioxamine in the treatment of aceruloplasminemia. (9066364)
1997
47
Expression of the ceruloplasmin gene in the human retina and brain: implications for a pathogenic model in aceruloplasminemia. (8968753)
1996
48
Late onset diabetes mellitus in patients with hereditary aceruloplasminemia. (8894739)
1996
49
Increased plasma lipid peroxidation in patients with aceruloplasminemia. (8721620)
1996
50
Aceruloplasminemia (20301666)
1993

Variations for Aceruloplasminemia

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1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Aceruloplasminemia:

1 (show all 42)
id Gene Name Type Significance SNP ID Assembly Location
1CPNM_000096.3(CP): c.3019-1G> Asingle nucleotide variantPathogenicrs386134142GRCh37Chr 3, 148894200: 148894200
2CPNM_000096.3(CP): c.2389delG (p.Glu797Argfs)deletionPathogenicrs386134149GRCh37Chr 3, 148901289: 148901289
3CPNM_000096.3(CP): c.1286_1287insTACAC (p.Asp430Thrfs)insertionPathogenicrs386134145GRCh37Chr 3, 148919950: 148919951
4CPNM_000096.3(CP): c.2630G> A (p.Trp877Ter)single nucleotide variantPathogenicrs121909579GRCh37Chr 3, 148897374: 148897374
5CPNM_000096.3(CP): c.606dupA (p.Asp203Argfs)duplicationPathogenicrs386134143GRCh37Chr 3, 148927955: 148927955
6CPNM_000096.3(CP): c.1049C> A (p.Ala350Asp)single nucleotide variantPathogenicrs386134127GRCh37Chr 3, 148924114: 148924114
7CPNM_000096.3(CP): c.229G> C (p.Asp77His)single nucleotide variantPathogenicrs200683433GRCh37Chr 3, 148930403: 148930403
8CPNM_000096.3(CP): c.650T> C (p.Phe217Ser)single nucleotide variantPathogenicrs386134125GRCh37Chr 3, 148927129: 148927129
9CPNM_000096.3(CP): c.1874G> A (p.Gly625Glu)single nucleotide variantPathogenicrs386134129GRCh37Chr 3, 148904510: 148904510
10CPNM_000096.3(CP): c.2675G> A (p.Gly892Glu)single nucleotide variantPathogenicrs386134131GRCh37Chr 3, 148896405: 148896405
11CPNM_000096.3(CP): c.2684G> C (p.Gly895Ala)single nucleotide variantPathogenicrs139633388GRCh37Chr 3, 148896396: 148896396
12CPNM_000096.3(CP): c.2962G> A (p.Gly988Ser)single nucleotide variantPathogenicrs386134133GRCh37Chr 3, 148895683: 148895683
13CPNM_000096.3(CP): c.548T> C (p.Ile183Thr)single nucleotide variantPathogenicrs386134123GRCh37Chr 3, 148928013: 148928013
14CPNM_000096.3(CP): c.82A> T (p.Ile28Phe)single nucleotide variantPathogenicrs386134121GRCh37Chr 3, 148939498: 148939498
15CPNM_000096.3(CP): c.2953A> G (p.Met985Val)single nucleotide variantPathogenicrs386134132GRCh37Chr 3, 148895692: 148895692
16CPNM_000096.3(CP): c.587C> G (p.Pro196Arg)single nucleotide variantPathogenicrs386134124GRCh37Chr 3, 148927974: 148927974
17CPNM_000096.3(CP): c.493C> G (p.Gln165Glu)single nucleotide variantPathogenicrs386134122GRCh37Chr 3, 148928068: 148928068
18CPNM_000096.3(CP): c.2131C> A (p.Gln711Lys)single nucleotide variantPathogenicrs386134130GRCh37Chr 3, 148903180: 148903180
19CPNM_000096.3(CP): c.643C> T (p.Arg215Ter)single nucleotide variantPathogenicrs386134155GRCh37Chr 3, 148927136: 148927136
20CPNM_000096.3(CP): c.2158C> T (p.Arg720Trp)single nucleotide variantPathogenicrs145784949GRCh37Chr 3, 148903153: 148903153
21CPNM_000096.3(CP): c.2701C> T (p.Arg901Ter)single nucleotide variantPathogenicrs386134156GRCh37Chr 3, 148896379: 148896379
22CPNM_000096.3(CP): c.1652C> T (p.Thr551Ile)single nucleotide variantBenign, Pathogenicrs61733458GRCh37Chr 3, 148916215: 148916215
23CPNM_000096.3(CP): c.848G> C (p.Trp283Ser)single nucleotide variantPathogenicrs386134126GRCh37Chr 3, 148925338: 148925338
24CPNM_000096.3(CP): c.1123T> C (p.Tyr375His)single nucleotide variantPathogenicrs386134128GRCh37Chr 3, 148924040: 148924040
25CPNM_000096.3(CP): c.1209-2A> Gsingle nucleotide variantPathogenicrs386134137GRCh37Chr 3, 148920030: 148920030
26CPNM_000096.3(CP): c.1209_1210dupTG (p.Asp404Valfs)duplicationPathogenicrs386134138GRCh37Chr 3, 148920026: 148920027
27CPNM_000096.3(CP): c.1257_1258delTT (p.Tyr420Terfs)deletionPathogenicrs386134144GRCh37Chr 3, 148919979: 148919980
28CPNM_000096.3(CP): c.146+1G> Asingle nucleotide variantPathogenicrs386134134GRCh37Chr 3, 148939433: 148939433
29CPNM_000096.3(CP): c.1865-1G> Asingle nucleotide variantPathogenicrs386134139GRCh37Chr 3, 148904520: 148904520
30CPNM_000096.3(CP): c.1918delG (p.Asp640Ilefs)deletionPathogenicrs386134146GRCh37Chr 3, 148904466: 148904466
31CPNM_000096.3(CP): c.2065delC (p.Pro689Leufs)deletionPathogenicrs386134147GRCh37Chr 3, 148904319: 148904319
32CPNM_000096.3(CP): c.2068delG (p.Asp690Thrfs)deletionPathogenicrs386134148GRCh37Chr 3, 148904316: 148904316
33CPNM_000096.3: p.Leu729Trpfs*40deletionPathogenic
34CPNM_000096.3(CP): c.2482delG (p.Ala828Profs)deletionPathogenicrs386134150GRCh37Chr 3, 148899864: 148899864
35CPNM_000096.3(CP): c.2511dupT (p.Gly838Trpfs)duplicationPathogenicrs386134151GRCh37Chr 3, 148899835: 148899836
36CPNM_000096.3(CP): c.2554+1G> Tsingle nucleotide variantPathogenicrs386134140GRCh37Chr 3, 148899791: 148899791
37CPNM_000096.3(CP): c.2602delG (p.Gly868Glufs)deletionPathogenicrs386134152GRCh37Chr 3, 148897402: 148897402
38CPNM_000096.3(CP): c.2689_2690delCT (p.Leu897Aspfs)deletionPathogenicrs386134153GRCh37Chr 3, 148896390: 148896391
39CPNM_000096.3(CP): c.2879-1G> Asingle nucleotide variantPathogenicrs386134141GRCh37Chr 3, 148895767: 148895767
40CPNM_000096.3(CP): c.2917dupA (p.Thr973Asnfs)duplicationPathogenicrs386134154GRCh37Chr 3, 148895727: 148895728
41CPNM_000096.3(CP): c.395-1G> Asingle nucleotide variantPathogenicrs386134135GRCh37Chr 3, 148928167: 148928167
42CPNM_000096.3(CP): c.607+1G> Asingle nucleotide variantPathogenicrs386134136GRCh37Chr 3, 148927953: 148927953

Expression for genes affiliated with Aceruloplasminemia

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2BioGPS, 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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50PathCards, 38NCBI BioSystems Database, 60Thomson Reuters, 55Reactome, 51PharmGKB, 12EMD Millipore, 30KEGG
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Compounds for genes affiliated with Aceruloplasminemia

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

(show top 50)    (show all 73)
idCompoundScoreTop Affiliating Genes
1ferrozine4510.1CP, TF
2ferrous ammonium sulfate4510.1CP, TF
3apotransferrin4510.0TF, CP
4ferric ammonium citrate4510.0TF, CP
5dmpo-oh4510.0CP, SOD1
6randox4510.0SOD1, CP
7thiobarbituric acid459.9CP, SOD1
8carnosine45 2410.8SOD1, CP
9mntmpyp459.8SOD1, SOD2
10lutein459.8CP, SOD2
11sodium azide459.8SOD1, CP
12azide459.8CP, SOD1
13pyrogallol459.8SOD1, SOD2
14zinc superoxide459.8SOD1, SOD2
15propyl gallate459.8SOD2, SOD1
163-nitrotyrosine459.7SOD2, SOD1
17glutathion459.7SOD2, SOD1
183-amino-1,2,4-triazole459.7SOD1, SOD2
19onoo459.7SOD2, SOD1
20dmpo459.6CP, SOD2, SOD1
21antimycin a459.5SOD1, SOD2
22dicoumarol459.5SOD2, SOD1
23hypoxanthine45 24 1111.5SOD1, CP, SOD2
24malondialdehyde459.5SOD2, CP, SOD1
25pdtc459.5CP, SOD2, SOD1
26suprofen45 1110.5SOD1, CP, TF
27dtpa459.5SOD1, CP, TF
28citrate459.5SOD2, CP, TF
29levodopa45 1110.4SOD1, CP, TF
30trolox459.4SOD1, SOD2
31hydroquinone45 2410.4SOD2, SOD1
32folate459.4CP, TF, SOD2
338-oxo-dg459.3SOD2, SOD1
34selenite459.3SOD1, TF, SOD2
35adriamycin459.2SOD1, SOD2, TF
36deferoxamine45 1110.1CP, SOD1, TF, TFR2
37fenton459.0CP, SOD2, SOD1, TF
38dehydroascorbic acid45 1110.0SOD1, SOD2, CP, TF
39tocopherol459.0CP, TF, SOD1, SOD2
40selenium45 2410.0TF, CP, SOD1, SOD2
41betacarotene459.0SOD1, TF, SOD2, CP
42alpha tocopherol459.0SOD2, SOD1, CP, TF
43sodium nitroprusside459.0SOD1, TF, SOD2, CP
44vitamin a45 24 1111.0SOD1, SOD2, CP, TF
45ascorbic acid45 2410.0CP, SOD1, TF, SOD2
46lactate458.9SOD2, SOD1, CP, TF
47agar458.9TF, CP, SOD2
48creatinine458.7TF, HAMP, SOD2, CP, SOD1
49copper45 249.2TF, CP, HEPH, SOD1, SOD2
50iron45 246.9SFXN1, HFE2, FA2H, HEPH, PANK2, SOD1

GO Terms for genes affiliated with Aceruloplasminemia

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16Gene Ontology
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Cellular components related to Aceruloplasminemia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1mitochondrial intermembrane spaceGO:0057589.5PANK2, SOD1
2extracellular spaceGO:0056158.4HFE2, SOD1, CP, TF

Biological processes related to Aceruloplasminemia according to GeneCards/GeneDecks:

(show all 16)
idNameGO IDScoreTop Affiliating Genes
1iron ion transportGO:0068269.8SFXN1, TFR2
2peripheral nervous system myelin maintenanceGO:0322879.7FA2H, SOD1
3response to superoxideGO:0003039.7SOD1, SOD2
4hydrogen peroxide biosynthetic processGO:0506659.6SOD1, SOD2
5removal of superoxide radicalsGO:0194309.6SOD2, SOD1
6superoxide anion generationGO:0425549.6SOD2, SOD1
7copper ion transportGO:0068259.5CP, HEPH
8superoxide metabolic processGO:0068019.5SOD1, SOD2
9iron ion homeostasisGO:0550729.5SFXN1, SOD2, HFE2
10response to axon injuryGO:0486789.5SOD2, SOD1
11regulation of blood pressureGO:0082179.4SOD1, SOD2
12retina homeostasisGO:0018959.3SOD1, TF
13regulation of mitochondrial membrane potentialGO:0518819.3PANK2, SOD1, SOD2
14glutathione metabolic processGO:0067499.3SOD1, SOD2
15response to hydrogen peroxideGO:0425429.1SOD1, SOD2
16cellular iron ion homeostasisGO:0068797.9HEPH, HAMP, TF, TFR2, CP, SOD1

Molecular functions related to Aceruloplasminemia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1chaperone bindingGO:0510879.6SOD1, CP
2superoxide dismutase activityGO:0047849.1SOD1, SOD2
3copper ion bindingGO:0055078.6HEPH, SOD1, CP

Products for genes affiliated with Aceruloplasminemia

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Sources for Aceruloplasminemia

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4CDC
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
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet