MCID: ACR006
MIFTS: 55

Aceruloplasminemia malady

Genetic diseases, Rare diseases, Metabolic diseases categories
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Summaries for Aceruloplasminemia

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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 based summary: 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:46 604290

GeneReviews summary for acp

Aliases & Classifications for Aceruloplasminemia

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Aceruloplasminemia, Aliases & Descriptions:

Name: Aceruloplasminemia 8 65 19 42 20 21 10
Systemic Hemosiderosis Due to Aceruloplasminemia 42 22 21
Familial Apoceruloplasmin Deficiency 42 21 62
Hereditary Ceruloplasmin Deficiency 42 21 62
 
Hypoceruloplasminemia 42 21 62
Deficiency of Ferroxidase 21 62
Ceruloplasmin Deficiency 42 62
Hemosiderosis, Systemic, Due to Aceruloplasminemia 46


Classifications:



External Ids:

Disease Ontology8 DOID:0050711
OMIM46 604290

Related Diseases for Aceruloplasminemia

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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
1hemosiderosis30.8CP, TF
2retinal degeneration30.5HEPH, PANK2, CP
3pantothenate kinase-associated neurodegeneration30.3PANK2, FA2H
4siderosis30.2CP, TF
5hepatitis30.1TFR2, TF
6wilson disease29.9SOD1, CP, TF
7diabetes mellitus29.8TF, CP, SOD2, SOD1
8hemochromatosis29.4HAMP, TF, TFR2, CP, HEPH, HFE2
9eales disease10.4SOD1
10hemochromatosis type 210.4HFE2, HAMP
11neuroacanthocytosis10.3CP, PANK2
12porphyria cutanea tarda10.3TF
13movement disease10.3CP, PANK2
14blepharospasm10.3
15pneumoconiosis10.3CP, SOD1
16menkes disease10.2SOD1, CP
17dementia10.2
18cerebellar ataxia10.2
19hypochromic microcytic anemia10.1TF, CP
20iron metabolism disease10.1HFE2, TF
21iron deficiency anemia10.1HEPH, TF
22beta thalassemia10.1TF, TFR2
23alpha thalassemia10.1TF, HAMP
24hypogonadism10.1TF
25galactosemia10.0CP, TF
26ataxia10.0
27chorea10.0
28motor neuron disease10.0SOD2, SOD1
29hemolytic anemia10.0TF, CP
30non-suppurative otitis media10.0TF, CP, HFE2
31schizophrenia10.0
32diabetes insipidus10.0
33neuronitis10.0
34cerebritis10.0
35hypothyroidism10.0
36retinitis10.0
37superficial siderosis10.0
38diabetic retinopathy10.0SOD1, SOD2
39liver cirrhosis10.0TF, TFR2, CP
40atransferrinemia10.0HEPH, TFR2, TF
41parkinson's disease9.9CP, SOD2, SOD1
42uremia9.9TF, SOD1
43prion disease9.9SOD2, CP, TF
44cork-handlers' disease9.9SOD2, TF
45alcoholic liver cirrhosis9.8TF, SOD2, SOD1
46hepatitis c9.7HAMP, TF, TFR2, SOD2
47deficiency anemia9.3HAMP, TF, TFR2, CP, SOD2, HEPH

Graphical network of the top 20 diseases related to Aceruloplasminemia:



Diseases related to aceruloplasminemia

Symptoms for Aceruloplasminemia

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Clinical features from OMIM:

604290

Drugs & Therapeutics for Aceruloplasminemia

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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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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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MalaCards organs/tissues related to Aceruloplasminemia:

32
Retina, Brain, Eye, Liver

Animal Models for Aceruloplasminemia or affiliated genes

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MGI Mouse Phenotypes related to Aceruloplasminemia:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00011868.6CP, SOD2, HEPH
2MP:00053858.0HFE2, HEPH, SOD1, SOD2, CP
3MP:00053917.5CP, SOD2, SOD1, PANK2, HEPH, FA2H
4MP:00036317.4CP, SOD2, SOD1, PANK2, HEPH, FA2H
5MP:00053707.4TFR2, CP, SOD2, SOD1, PANK2, HEPH
6MP:00053877.0HAMP, TFR2, CP, SOD2, SOD1, PANK2
7MP:00053976.6HAMP, TF, TFR2, CP, SOD2, SOD1
8MP:00053766.2HFE2, HAMP, TF, TFR2, CP, SOD2

Publications for Aceruloplasminemia

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Articles related to Aceruloplasminemia:

(show top 50)    (show all 63)
idTitleAuthorsYear
1
Superficial siderosis associated with aceruloplasminemia. Case report. (24607334)
2014
2
Aceruloplasminemia. (25168455)
2014
3
Aceruloplasminemia in a Turkish adolescent with a novel mutation of ceruloplasmin gene: the first diagnosed case from Turkey. (25247888)
2014
4
Novel ceruloplasmin mutation causing aceruloplasminemia with hepatic iron overload and diabetes without neurological symptoms. (23557349)
2013
5
Teaching NeuroImages: neurodegeneration with brain iron accumulation in aceruloplasminemia. (24218322)
2013
6
Never forget aceruloplasminemia in case of highly suggestive Wilson's disease score. (24002824)
2013
7
Aceruloplasminemia: an update. (24209437)
2013
8
Case of presymptomatic aceruloplasminemia treated with deferasirox. (24341521)
2013
9
Effectiveness of oral iron chelator treatment with deferasirox in an aceruloplasminemia patient with a novel ceruloplasmin gene mutation. (23812204)
2013
10
Aceruloplasminemia. (22515740)
2012
11
Criteria for early identification of aceruloplasminemia. (21720062)
2011
12
Desferrioxamine treatment of aceruloplasminemia: Long-term follow-up. (21594898)
2011
13
Aceruloplasminemia: a rare disease - diagnosis and treatment of two cases. (23049345)
2011
14
Hepatic but not brain iron is rapidly chelated by deferasirox in aceruloplasminemia due to a novel gene mutation. (20801540)
2010
15
Central diabetes insipidus and hypothalamic hypothyroidism associated with aceruloplasminemia. (20686294)
2010
16
Aceruloplasminemia: a novel mutation in a family with marked phenotypic variability. (18200628)
2008
17
Redox active iron accumulation in aceruloplasminemia. (18282164)
2008
18
Aceruloplasminemia: a case report. (18408989)
2008
19
Microglia and astroglia prevent oxidative stress-induced neuronal cell death: implications for aceruloplasminemia. (18187051)
2008
20
Cys-881 is essential for the trafficking and secretion of truncated mutant ceruloplasmin in aceruloplasminemia. (17637479)
2007
21
Movement disorder due to aceruloplasminemia and incorrect diagnosis of hereditary hemochromatosis. (17508145)
2007
22
Treatment of symptomatic heterozygous aceruloplasminemia with oral zinc sulphate. (17307325)
2007
23
Identification and in silico characterization of a novel compound heterozygosity associated with hereditary aceruloplasminemia. (17710675)
2007
24
Molecular and pathological basis of aceruloplasminemia. (16629161)
2006
25
Aceruloplasminemia (hereditary ceruloplasmin deficiency) and diabetes mellitus]. (17022509)
2006
26
Hepatic iron overload associated with a decreased serum ceruloplasmin level in a novel clinical type of aceruloplasminemia. (16831606)
2006
27
Iron overload and antioxidative role of perivascular astrocytes in aceruloplasminemia. (16599945)
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
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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Clinvar genetic disease variations for Aceruloplasminemia:

6 (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 variantPathogenicrs61733458GRCh37Chr 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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Expression patterns in normal tissues for genes affiliated with Aceruloplasminemia

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Pathways for genes affiliated with Aceruloplasminemia

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Compounds for genes affiliated with Aceruloplasminemia

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Sources:
44Novoseek, 24HMDB, 11DrugBank
See all sources

Compounds related to Aceruloplasminemia according to GeneCards/GeneDecks:

(show top 50)    (show all 73)
idCompoundScoreTop Affiliating Genes
1ferrozine4410.1CP, TF
2ferrous ammonium sulfate4410.1CP, TF
3apotransferrin4410.0TF, CP
4ferric ammonium citrate4410.0TF, CP
5dmpo-oh4410.0CP, SOD1
6randox4410.0SOD1, CP
7thiobarbituric acid449.9CP, SOD1
8carnosine44 2410.8SOD1, CP
9mntmpyp449.8SOD1, SOD2
10lutein449.8CP, SOD2
11sodium azide449.8SOD1, CP
12azide449.8CP, SOD1
13pyrogallol449.8SOD1, SOD2
14zinc superoxide449.8SOD1, SOD2
15propyl gallate449.8SOD2, SOD1
163-nitrotyrosine449.7SOD2, SOD1
17glutathion449.7SOD2, SOD1
183-amino-1,2,4-triazole449.7SOD1, SOD2
19onoo449.7SOD2, SOD1
20dmpo449.6CP, SOD2, SOD1
21antimycin a449.5SOD1, SOD2
22dicoumarol449.5SOD2, SOD1
23hypoxanthine44 24 1111.5SOD1, CP, SOD2
24malondialdehyde449.5SOD2, CP, SOD1
25pdtc449.5CP, SOD2, SOD1
26suprofen44 1110.5SOD1, CP, TF
27dtpa449.5SOD1, CP, TF
28citrate449.5SOD2, CP, TF
29levodopa44 1110.4SOD1, CP, TF
30trolox449.4SOD1, SOD2
31hydroquinone44 2410.4SOD2, SOD1
32folate449.4CP, TF, SOD2
338-oxo-dg449.3SOD2, SOD1
34selenite449.3SOD1, TF, SOD2
35adriamycin449.2SOD1, SOD2, TF
36deferoxamine44 1110.1CP, SOD1, TF, TFR2
37fenton449.0CP, SOD2, SOD1, TF
38dehydroascorbic acid44 1110.0SOD1, SOD2, CP, TF
39tocopherol449.0CP, TF, SOD1, SOD2
40selenium44 2410.0TF, CP, SOD1, SOD2
41betacarotene449.0SOD1, TF, SOD2, CP
42alpha tocopherol449.0SOD2, SOD1, CP, TF
43sodium nitroprusside449.0SOD1, TF, SOD2, CP
44vitamin a44 24 1111.0SOD1, SOD2, CP, TF
45ascorbic acid44 2410.0CP, SOD1, TF, SOD2
46lactate448.9SOD2, SOD1, CP, TF
47agar448.9TF, CP, SOD2
48creatinine448.7TF, HAMP, SOD2, CP, SOD1
49copper44 249.2TF, CP, HEPH, SOD1, SOD2
50iron44 246.9SFXN1, HFE2, FA2H, HEPH, PANK2, SOD1

GO Terms for genes affiliated with Aceruloplasminemia

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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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  • Antibodies
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Sources for Aceruloplasminemia

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet