MCID: ACR006
MIFTS: 43

Aceruloplasminemia malady

Categories: Genetic diseases, Rare diseases, Metabolic diseases

Aliases & Classifications for Aceruloplasminemia

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Aliases & Descriptions for Aceruloplasminemia:

Name: Aceruloplasminemia 11 71 23 48 24 25 13
Familial Apoceruloplasmin Deficiency 48 25 68
Hypoceruloplasminemia 48 25 27
Systemic Hemosiderosis Due to Aceruloplasminemia 48 25
 
Hereditary Ceruloplasmin Deficiency 48 25
Deficiency of Ferroxidase 25 27
Ceruloplasmin Deficiency 48 68
Ceruloplasmin 12

Classifications:



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Disease Ontology11 DOID:0050711

Summaries for Aceruloplasminemia

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NIH Rare Diseases:48 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 familial apoceruloplasmin deficiency, is related to cerebellar ataxia and neurodegeneration with brain iron accumulation 1, and has symptoms including ataxia, ataxia and torticollis. An important gene associated with Aceruloplasminemia is CP (Ceruloplasmin), and among its related pathways are Mechanisms of CFTR activation by S-nitrosoglutathione (normal and CF) and Peroxisome. Affiliated tissues include brain, retina and liver, and related mouse phenotypes are behavior/neurological and nervous system.

Disease Ontology:11 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:25 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:71 Aceruloplasminemia is a rare autosomal recessive disorder in which iron gradually accumulates in the... more...

GeneReviews for NBK1493

Related Diseases for Aceruloplasminemia

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Diseases related to Aceruloplasminemia via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 88)
idRelated DiseaseScoreTop Affiliating Genes
1cerebellar ataxia11.6
2neurodegeneration with brain iron accumulation 110.8
3multiple system atrophy with orthostatic hypotension10.4CP, SOD1
4scn8a encephalopathy10.3CP, SOD1
5burns10.3SOD1, SOD2
6hemiplegia alterans10.2GFAP, SOD1
7pseudoretinitis pigmentosa10.2SOD1, SOD2
8microsporidiosis10.2CP, SOD1
9paranasal sinus cancer, adult10.2CP, SYP
10grubben de cock borghgraef syndrome10.2GFAP, SYP
11papillary glioneuronal tumor10.2GFAP, SYP
12bladder flat intraepithelial lesion10.2GFAP, SYP
13lice infestation10.2GFAP, SYP
14chiari malformation type 410.2GFAP, SYP
15cauda equina neoplasm10.2GFAP, SYP
16glomus tumor10.2GFAP, SYP
17brain glioma10.2GFAP, SYP
18vulvar benign neoplasm10.2GFAP, SYP
19hypersensitivity reaction type ii disease10.2GFAP, SYP
20brainstem intraparenchymal clear cell meningioma10.2GFAP, SYP
21jewett-marshall bladder cancer10.2GFAP, SYP
22lumbar plexus neoplasm10.2GFAP, SYP
23yolk sac tumor of central nervous system10.2GFAP, SYP
24atypical choroid plexus papilloma10.2GFAP, SYP
25pilomyxoid astrocytoma10.2GFAP, SYP
26cauda equina intradural extramedullary astrocytoma10.2GFAP, SYP
27choroid disease10.2GFAP, SYP
28subpulmonary stenosis10.2GFAP, SYP
29pineoblastoma10.2GFAP, SYP
30intracystic papillary adenoma10.2GFAP, SYP
31plexopathy10.2GFAP, SYP
32malignant granular cell esophageal tumor10.2GFAP, SYP
33gallbladder adenoma10.2GFAP, SYP
34congenital hypogammaglobulinemia10.2GFAP, SYP
35malignant pineal area germ cell neoplasm10.2GFAP, SYP
36ependymoblastoma10.1GFAP, SYP
37diencephalic astrocytomas10.1GFAP, SYP
38brain stem ependymoma10.1GFAP, SYP
39pineal parenchymal tumor of intermediate differenciation10.1GFAP, SYP
40pulmonary plasma cell granuloma10.1GFAP, SYP
41iodine hypothyroidism10.1GFAP, SYP
42clear cell ependymoma10.1GFAP, SYP
43spinal cord glioma10.1GFAP, SYP
44large intestine lipoma10.1GFAP, SYP
45kidney angiomyolipoma10.1SOD1, SOD2
46central centrifugal cicatricial alopecia10.1GFAP, SYP
47neurilemmoma of the fifth cranial nerve10.1GFAP, SYP
48peritoneal benign neoplasm10.1GFAP, SYP
49mesenchymoma10.1GFAP, SYP
50central nervous system sarcoma10.1GFAP, SYP

Graphical network of the top 20 diseases related to Aceruloplasminemia:



Diseases related to aceruloplasminemia

Symptoms & Phenotypes for Aceruloplasminemia

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UMLS symptoms related to Aceruloplasminemia:


ataxia, torticollis, cogwheel rigidity, extrapyramidal sign, scanning speech

MGI Mouse Phenotypes related to Aceruloplasminemia according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053868.4CP, FA2H, GFAP, SOD1, SOD2, SYP
2MP:00036318.3CP, FA2H, GFAP, SOD1, SOD2, SYP
3MP:00053918.2CP, FA2H, GFAP, SOD1, SOD2

Drugs & Therapeutics for Aceruloplasminemia

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Aceruloplasminemia

Genetic Tests for Aceruloplasminemia

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Genetic tests related to Aceruloplasminemia:

id Genetic test Affiliating Genes
1 Deficiency of Ferroxidase27
2 Hypoceruloplasminemia27
3 Aceruloplasminemia24 CP

Anatomical Context for Aceruloplasminemia

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MalaCards organs/tissues related to Aceruloplasminemia:

36
Brain, Retina, Liver

Publications for Aceruloplasminemia

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Articles related to Aceruloplasminemia:

(show top 50)    (show all 75)
idTitleAuthorsYear
1
Aceruloplasminemia With Psychomotor Excitement and Neurological Sign Was Improved by Minocycline (Case Report). (27175663)
2016
2
Is aceruloplasminemia treatable? Combining iron chelation and fresh-frozen plasma treatment. (27817091)
2016
3
New insights in the neurological phenotype of aceruloplasminemia in Caucasian patients. (28012953)
2016
4
Does aceruloplasminemia modulate iron phenotype in thalassemia intermedia? (26777753)
2016
5
Coexistence of Copper in the Iron-Rich Particles of Aceruloplasminemia Brain. (27272717)
2016
6
Aceruloplasminemia With Positive Ceruloplasm Gene Mutation. (27416276)
2016
7
Iron chelation therapy to prevent the manifestations of aceruloplasminemia. (26311749)
2015
8
Aceruloplasminemia presents as Type 1 diabetes in non-obese adults: a detailed case series. (25661792)
2015
9
Aceruloplasminemia: neurodegeneration with brain iron accumulation (NBIA) associated with parkinsonism. (25413956)
2015
10
Movement disorders and brain iron overload in a new subtype of aceruloplasminemia. (25864092)
2015
11
Superficial siderosis associated with aceruloplasminemia. Case report. (24607334)
2014
12
Aceruloplasminemia. (25168455)
2014
13
Aceruloplasminemia in a Turkish adolescent with a novel mutation of ceruloplasmin gene: the first diagnosed case from Turkey. (25247888)
2014
14
Aceruloplasminemia: An entity to consider in patients with anemia. (25287242)
2014
15
Never forget aceruloplasminemia in case of highly suggestive Wilson's disease score. (24002824)
2013
16
Novel ceruloplasmin mutation causing aceruloplasminemia with hepatic iron overload and diabetes without neurological symptoms. (23557349)
2013
17
Teaching NeuroImages: neurodegeneration with brain iron accumulation in aceruloplasminemia. (24218322)
2013
18
Aceruloplasminemia: an update. (24209437)
2013
19
Case of presymptomatic aceruloplasminemia treated with deferasirox. (24341521)
2013
20
Effectiveness of oral iron chelator treatment with deferasirox in an aceruloplasminemia patient with a novel ceruloplasmin gene mutation. (23812204)
2013
21
Brain and liver iron accumulation in aceruloplasminemia. (24323439)
2013
22
Aceruloplasminemia. (22515740)
2012
23
Extensive brain pathology in a patient with aceruloplasminemia with a prolonged duration of illness. (21889188)
2012
24
Desferrioxamine treatment of aceruloplasminemia: Long-term follow-up. (21594898)
2011
25
Criteria for early identification of aceruloplasminemia. (21720062)
2011
26
Aceruloplasminemia: a rare disease - diagnosis and treatment of two cases. (23049345)
2011
27
Aceruloplasminemia: retinal histopathologic manifestations and iron-mediated melanosome degradation. (22084216)
2011
28
Hepatic but not brain iron is rapidly chelated by deferasirox in aceruloplasminemia due to a novel gene mutation. (20801540)
2010
29
Aceruloplasminemia in a Japanese woman with a novel mutation of CP gene: clinical presentations and analysis of genetic and molecular pathogenesis. (20828764)
2010
30
Central diabetes insipidus and hypothalamic hypothyroidism associated with aceruloplasminemia. (20686294)
2010
31
Dominant mutants of ceruloplasmin impair the copper loading machinery in aceruloplasminemia. (19095659)
2009
32
Iron excess treatable by copper supplementation in acquired aceruloplasminemia: a new form of secondary human iron overload? (19745082)
2009
33
Aceruloplasminemia: a novel mutation in a family with marked phenotypic variability. (18200628)
2008
34
Aceruloplasminemia: a case report. (18408989)
2008
35
Redox active iron accumulation in aceruloplasminemia. (18282164)
2008
36
Microglia and astroglia prevent oxidative stress-induced neuronal cell death: implications for aceruloplasminemia. (18187051)
2008
37
Cys-881 is essential for the trafficking and secretion of truncated mutant ceruloplasmin in aceruloplasminemia. (17637479)
2007
38
Movement disorder due to aceruloplasminemia and incorrect diagnosis of hereditary hemochromatosis. (17508145)
2007
39
Treatment of symptomatic heterozygous aceruloplasminemia with oral zinc sulphate. (17307325)
2007
40
Identification and in silico characterization of a novel compound heterozygosity associated with hereditary aceruloplasminemia. (17710675)
2007
41
Hepatic iron overload associated with a decreased serum ceruloplasmin level in a novel clinical type of aceruloplasminemia. (16831606)
2006
42
Schizophrenia-like psychosis and aceruloplasminemia. (19412506)
2006
43
Molecular and pathological basis of aceruloplasminemia. (16629161)
2006
44
Aceruloplasminemia (hereditary ceruloplasmin deficiency) and diabetes mellitus]. (17022509)
2006
45
Iron overload and antioxidative role of perivascular astrocytes in aceruloplasminemia. (16599945)
2006
46
Biochemical features of ceruloplasmin gene mutations linked to aceruloplasminemia. (16775387)
2006
47
MR imaging of cerebral cortical involvement in aceruloplasminemia. (15760883)
2005
48
Frontal lobe dysfunction associated with glucose hypometabolism in aceruloplasminemia. (15765266)
2005
49
Aceruloplasminemia in an asymptomatic patient with a new mutation. Diagnosis and family genetic analysis. (15885371)
2005
50
Aceruloplasminemia: an inherited neurodegenerative disease with impairment of iron homeostasis. (15105274)
2004

Variations for Aceruloplasminemia

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Clinvar genetic disease variations for Aceruloplasminemia:

5 (show all 42)
id Gene Variation Type Significance SNP ID Assembly Location
1CPNM_000096.3(CP): c.3019-1G> ASNVPathogenicrs386134142GRCh37Chr 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)SNVPathogenicrs121909579GRCh37Chr 3, 148897374: 148897374
5CPNM_000096.3(CP): c.606dupA (p.Asp203Argfs)duplicationPathogenicrs386134143GRCh37Chr 3, 148927955: 148927955
6CPNM_000096.3(CP): c.2991T> G (p.His997Gln)SNVPathogenicrs34394958GRCh37Chr 3, 148895654: 148895654
7CPNM_000096.3(CP): c.1049C> A (p.Ala350Asp)SNVPathogenicrs386134127GRCh37Chr 3, 148924114: 148924114
8CPNM_000096.3(CP): c.229G> C (p.Asp77His)SNVPathogenicrs200683433GRCh37Chr 3, 148930403: 148930403
9CPNM_000096.3(CP): c.650T> C (p.Phe217Ser)SNVPathogenicrs386134125GRCh37Chr 3, 148927129: 148927129
10CPNM_000096.3(CP): c.1874G> A (p.Gly625Glu)SNVPathogenicrs386134129GRCh37Chr 3, 148904510: 148904510
11CPNM_000096.3(CP): c.2675G> A (p.Gly892Glu)SNVPathogenicrs386134131GRCh37Chr 3, 148896405: 148896405
12CPNM_000096.3(CP): c.2684G> C (p.Gly895Ala)SNVPathogenicrs139633388GRCh37Chr 3, 148896396: 148896396
13CPNM_000096.3(CP): c.2962G> A (p.Gly988Ser)SNVPathogenicrs386134133GRCh37Chr 3, 148895683: 148895683
14CPNM_000096.3(CP): c.548T> C (p.Ile183Thr)SNVPathogenicrs386134123GRCh37Chr 3, 148928013: 148928013
15CPNM_000096.3(CP): c.82A> T (p.Ile28Phe)SNVPathogenicrs386134121GRCh37Chr 3, 148939498: 148939498
16CPNM_000096.3(CP): c.2953A> G (p.Met985Val)SNVPathogenicrs386134132GRCh37Chr 3, 148895692: 148895692
17CPNM_000096.3(CP): c.587C> G (p.Pro196Arg)SNVPathogenicrs386134124GRCh37Chr 3, 148927974: 148927974
18CPNM_000096.3(CP): c.493C> G (p.Gln165Glu)SNVPathogenicrs386134122GRCh37Chr 3, 148928068: 148928068
19CPNM_000096.3(CP): c.2131C> A (p.Gln711Lys)SNVPathogenicrs386134130GRCh37Chr 3, 148903180: 148903180
20CPNM_000096.3(CP): c.643C> T (p.Arg215Ter)SNVPathogenicrs386134155GRCh37Chr 3, 148927136: 148927136
21CPNM_000096.3(CP): c.2158C> T (p.Arg720Trp)SNVPathogenicrs145784949GRCh37Chr 3, 148903153: 148903153
22CPNM_000096.3(CP): c.2701C> T (p.Arg901Ter)SNVPathogenicrs386134156GRCh37Chr 3, 148896379: 148896379
23CPNM_000096.3(CP): c.848G> C (p.Trp283Ser)SNVPathogenicrs386134126GRCh37Chr 3, 148925338: 148925338
24CPNM_000096.3(CP): c.1123T> C (p.Tyr375His)SNVPathogenicrs386134128GRCh37Chr 3, 148924040: 148924040
25CPNM_000096.3(CP): c.1209-2A> GSNVPathogenicrs386134137GRCh37Chr 3, 148920030: 148920030
26CPNM_000096.3(CP): c.1209_1210dupTG (p.Asp404Valfs)duplicationPathogenicrs386134138GRCh37Chr 3, 148920027: 148920028
27CPNM_000096.3(CP): c.1257_1258delTT (p.Tyr420Terfs)deletionPathogenicrs386134144GRCh37Chr 3, 148919979: 148919980
28CPNM_000096.3(CP): c.146+1G> ASNVPathogenicrs386134134GRCh37Chr 3, 148939433: 148939433
29CPNM_000096.3(CP): c.1865-1G> ASNVPathogenicrs386134139GRCh37Chr 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(CP): c.2185delC (p.Leu729Trpfs)deletionPathogenicrs587777922GRCh38Chr 3, 149185339: 149185339
34CPNM_000096.3(CP): c.2482delG (p.Ala828Profs)deletionPathogenicrs386134150GRCh37Chr 3, 148899864: 148899864
35CPNM_000096.3(CP): c.2511dupT (p.Gly838Trpfs)duplicationPathogenicrs386134151GRCh37Chr 3, 148899835: 148899835
36CPNM_000096.3(CP): c.2554+1G> TSNVPathogenicrs386134140GRCh37Chr 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> ASNVPathogenicrs386134141GRCh37Chr 3, 148895767: 148895767
40CPNM_000096.3(CP): c.2917dupA (p.Thr973Asnfs)duplicationPathogenicrs386134154GRCh37Chr 3, 148895728: 148895728
41CPNM_000096.3(CP): c.395-1G> ASNVPathogenicrs386134135GRCh37Chr 3, 148928167: 148928167
42CPNM_000096.3(CP): c.607+1G> ASNVPathogenicrs386134136GRCh37Chr 3, 148927953: 148927953

Expression for genes affiliated with Aceruloplasminemia

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Search GEO for disease gene expression data for Aceruloplasminemia.

Pathways for genes affiliated with Aceruloplasminemia

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GO Terms for genes affiliated with Aceruloplasminemia

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Cellular components related to Aceruloplasminemia according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1myelin sheathGO:00432099.1GFAP, SOD1, SOD2

Biological processes related to Aceruloplasminemia according to GeneCards Suite gene sharing:

(show all 18)
idNameGO IDScoreTop Affiliating Genes
1glutathione metabolic processGO:000674910.3SOD1, SOD2
2hydrogen peroxide biosynthetic processGO:005066510.3SOD1, SOD2
3response to copper ionGO:004668810.2CP, SOD1
4regulation of blood pressureGO:000821710.2SOD1, SOD2
5regulation of mitochondrial membrane potentialGO:005188110.1SOD1, SOD2
6removal of superoxide radicalsGO:001943010.1SOD1, SOD2
7response to axon injuryGO:004867810.1SOD1, SOD2
8response to hydrogen peroxideGO:004254210.1SOD1, SOD2
9peripheral nervous system myelin maintenanceGO:003228710.1FA2H, SOD1
10response to nutrient levelsGO:003166710.0SOD1, SOD2
11response to reactive oxygen speciesGO:000030210.0SOD1, SOD2
12response to superoxideGO:000030310.0SOD1, SOD2
13iron ion homeostasisGO:00550729.9FTL, SOD2
14superoxide anion generationGO:00425549.9SOD1, SOD2
15agingGO:00075689.9CP, SOD1, SOD2
16superoxide metabolic processGO:00068019.5SOD1, SOD2
17cellular iron ion homeostasisGO:00068799.5CP, FTL, SOD1
18oxidation-reduction processGO:00551149.3CP, FA2H, SOD1, SOD2

Molecular functions related to Aceruloplasminemia according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1chaperone bindingGO:005108710.3CP, SOD1
2copper ion bindingGO:000550710.3CP, SOD1
3superoxide dismutase activityGO:00047849.5SOD1, SOD2
4identical protein bindingGO:00428028.2FTL, SOD1, SOD2, SYP

Sources for Aceruloplasminemia

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet