MCID: ACR006
MIFTS: 46

Aceruloplasminemia malady

Categories: Genetic diseases, Rare diseases, Metabolic diseases

Aliases & Classifications for Aceruloplasminemia

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Aliases & Descriptions for Aceruloplasminemia:

Name: Aceruloplasminemia 11 69 22 46 23 24 13
Familial Apoceruloplasmin Deficiency 46 24 66
Hypoceruloplasminemia 46 24 25
Systemic Hemosiderosis Due to Aceruloplasminemia 46 24
 
Hereditary Ceruloplasmin Deficiency 46 24
Deficiency of Ferroxidase 24 25
Ceruloplasmin Deficiency 46 66
Ceruloplasmin 12

Classifications:



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Disease Ontology11 DOID:0050711

Summaries for Aceruloplasminemia

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NIH Rare Diseases:46 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 multiple system atrophy with orthostatic hypotension, 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 retina, brain and eye, and related mouse phenotypes are vision/eye and behavior/neurological.

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:24 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:69 Aceruloplasminemia is a rare autosomal recessive disorder in which iron gradually accumulates in the... more...

GeneReviews summary 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 90)
idRelated DiseaseScoreTop Affiliating Genes
1cerebellar ataxia11.6
2multiple system atrophy with orthostatic hypotension10.5CP, SOD1
3scn8a encephalopathy10.4CP, SOD1
4burns10.4SOD1, SOD2
5pseudoretinitis pigmentosa10.4SOD1, SOD2
6paranasal sinus cancer, adult10.3CP, SYP
7microsporidiosis10.3CP, SOD1
8kidney angiomyolipoma10.2SOD1, SOD2
9hemiplegia alterans10.2GFAP, SOD1
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
25amyotrophic lateral sclerosis type 1410.2SOD1, SYP
26pilomyxoid astrocytoma10.2GFAP, SYP
27cauda equina intradural extramedullary astrocytoma10.2GFAP, SYP
28choroid disease10.2GFAP, SYP
29subpulmonary stenosis10.2GFAP, SYP
30pineoblastoma10.2GFAP, SYP
31intracystic papillary adenoma10.1GFAP, SYP
32plexopathy10.1GFAP, SYP
33malignant granular cell esophageal tumor10.1GFAP, SYP
34gallbladder adenoma10.1GFAP, SYP
35congenital hypogammaglobulinemia10.1GFAP, SYP
36malignant pineal area germ cell neoplasm10.1GFAP, SYP
37ependymoblastoma10.1GFAP, SYP
38diencephalic astrocytomas10.1GFAP, SYP
39brain stem ependymoma10.1GFAP, SYP
40pineal parenchymal tumor of intermediate differenciation10.1GFAP, SYP
41pulmonary plasma cell granuloma10.1GFAP, SYP
42iodine hypothyroidism10.1GFAP, SYP
43clear cell ependymoma10.1GFAP, SYP
44spinal cord glioma10.1GFAP, SYP
45large intestine lipoma10.1GFAP, SYP
46central centrifugal cicatricial alopecia10.1GFAP, SYP
47neurilemmoma of the fifth cranial nerve10.1GFAP, SYP
48peritoneal benign neoplasm10.1GFAP, SYP
49mesenchymoma10.1GFAP, SYP
50diplegia of upper limb10.1CP, SOD2

Graphical network of the top 20 diseases related to Aceruloplasminemia:



Diseases related to aceruloplasminemia

Symptoms for Aceruloplasminemia

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UMLS symptoms related to Aceruloplasminemia:


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

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 Ferroxidase25
2 Hypoceruloplasminemia25
3 Aceruloplasminemia23 CP

Anatomical Context for Aceruloplasminemia

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MalaCards organs/tissues related to Aceruloplasminemia:

34
Retina, Brain, Eye, Liver

Animal Models for Aceruloplasminemia or affiliated genes

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MGI Mouse Phenotypes related to Aceruloplasminemia:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053917.6CP, FA2H, GFAP, SOD1, SOD2
2MP:00053867.3CP, FA2H, GFAP, SOD1, SOD2, SYP
3MP:00036317.2CP, FA2H, GFAP, SOD1, SOD2, SYP

Publications for Aceruloplasminemia

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Articles related to Aceruloplasminemia:

(show top 50)    (show all 73)
idTitleAuthorsYear
1
Aceruloplasminemia With Psychomotor Excitement and Neurological Sign Was Improved by Minocycline (Case Report). (27175663)
2016
2
Does aceruloplasminemia modulate iron phenotype in thalassemia intermedia? (26777753)
2016
3
Iron chelation therapy to prevent the manifestations of aceruloplasminemia. (26311749)
2015
4
Aceruloplasminemia presents as Type 1 diabetes in non-obese adults: a detailed case series. (25661792)
2015
5
Aceruloplasminemia: neurodegeneration with brain iron accumulation (NBIA) associated with parkinsonism. (25413956)
2015
6
Movement disorders and brain iron overload in a new subtype of aceruloplasminemia. (25864092)
2015
7
Superficial siderosis associated with aceruloplasminemia. Case report. (24607334)
2014
8
Aceruloplasminemia. (25168455)
2014
9
Never forget aceruloplasminemia in case of highly suggestive Wilson's disease score. (24002824)
2013
10
Novel ceruloplasmin mutation causing aceruloplasminemia with hepatic iron overload and diabetes without neurological symptoms. (23557349)
2013
11
Teaching NeuroImages: neurodegeneration with brain iron accumulation in aceruloplasminemia. (24218322)
2013
12
Aceruloplasminemia: an update. (24209437)
2013
13
Case of presymptomatic aceruloplasminemia treated with deferasirox. (24341521)
2013
14
Aceruloplasminemia. (22515740)
2012
15
Desferrioxamine treatment of aceruloplasminemia: Long-term follow-up. (21594898)
2011
16
Criteria for early identification of aceruloplasminemia. (21720062)
2011
17
Hepatic but not brain iron is rapidly chelated by deferasirox in aceruloplasminemia due to a novel gene mutation. (20801540)
2010
18
Aceruloplasminemia in a Japanese woman with a novel mutation of CP gene: clinical presentations and analysis of genetic and molecular pathogenesis. (20828764)
2010
19
Dominant mutants of ceruloplasmin impair the copper loading machinery in aceruloplasminemia. (19095659)
2009
20
Aceruloplasminemia: a novel mutation in a family with marked phenotypic variability. (18200628)
2008
21
Aceruloplasminemia: a case report. (18408989)
2008
22
Cys-881 is essential for the trafficking and secretion of truncated mutant ceruloplasmin in aceruloplasminemia. (17637479)
2007
23
Hepatic iron overload associated with a decreased serum ceruloplasmin level in a novel clinical type of aceruloplasminemia. (16831606)
2006
24
Schizophrenia-like psychosis and aceruloplasminemia. (19412506)
2006
25
Molecular and pathological basis of aceruloplasminemia. (16629161)
2006
26
Aceruloplasminemia (hereditary ceruloplasmin deficiency) and diabetes mellitus]. (17022509)
2006
27
MR imaging of cerebral cortical involvement in aceruloplasminemia. (15760883)
2005
28
Frontal lobe dysfunction associated with glucose hypometabolism in aceruloplasminemia. (15765266)
2005
29
Aceruloplasminemia: an inherited neurodegenerative disease with impairment of iron homeostasis. (15105274)
2004
30
Aceruloplasminemia with juvenile-onset diabetes mellitus caused by exon skipping in the ceruloplasmin gene. (12879954)
2003
31
Aceruloplasminemia, an inherited disorder of iron metabolism. (12572680)
2003
32
Aceruloplasminemia, an iron metabolic disorder. (14719552)
2003
33
Aceruloplasminemia. (12614942)
2003
34
Biochemical analysis of a missense mutation in aceruloplasminemia. (11689569)
2002
35
Aceruloplasminemia: new clinical, pathophysiological and therapeutic insights. (12044538)
2002
36
Not all absent serum ceruloplasmin is Wilson disease: a review of aceruloplasminemia. (12227652)
2002
37
The copper-iron connection: hereditary aceruloplasminemia. (12382203)
2002
38
Increased lipid peroxidation in the brains of aceruloplasminemia patients. (10831768)
2000
39
Aceruloplasminemia with a novel mutation associated with parkinsonism. (10983721)
2000
40
Defective electron transfer in complexes I and IV in patients with aceruloplasminemia. (11102640)
2000
41
Estimation of the gene frequency of aceruloplasminemia in Japan. (10449129)
1999
42
Aceruloplasminemia. (9727700)
1998
43
Aceruloplasminemia: an inherited neurodegenerative disease with impairment of iron homeostasis. (9587138)
1998
44
CSF abnormalities in patients with aceruloplasminemia. (9781556)
1998
45
Use of desferrioxamine in the treatment of aceruloplasminemia. (9066364)
1997
46
Expression of the ceruloplasmin gene in the human retina and brain: implications for a pathogenic model in aceruloplasminemia. (8968753)
1996
47
Late onset diabetes mellitus in patients with hereditary aceruloplasminemia. (8894739)
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

Variations for Aceruloplasminemia

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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:00432098.8GFAP, SOD1, SOD2

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

(show all 18)
idNameGO IDScoreTop Affiliating Genes
1response to superoxideGO:000030310.2SOD1, SOD2
2response to copper ionGO:004668810.2CP, SOD1
3removal of superoxide radicalsGO:001943010.2SOD1, SOD2
4regulation of mitochondrial membrane potentialGO:005188110.2SOD1, SOD2
5superoxide anion generationGO:004255410.2SOD1, SOD2
6iron ion homeostasisGO:005507210.1FTL, SOD2
7peripheral nervous system myelin maintenanceGO:003228710.1FA2H, SOD1
8superoxide metabolic processGO:000680110.1SOD1, SOD2
9response to reactive oxygen speciesGO:000030210.1SOD1, SOD2
10hydrogen peroxide biosynthetic processGO:005066510.1SOD1, SOD2
11response to hydrogen peroxideGO:004254210.1SOD1, SOD2
12regulation of blood pressureGO:00082179.9SOD1, SOD2
13response to nutrient levelsGO:00316679.8SOD1, SOD2
14cellular iron ion homeostasisGO:00068799.7CP, FTL, SOD1
15glutathione metabolic processGO:00067499.6SOD1, SOD2
16response to axon injuryGO:00486789.6SOD1, SOD2
17agingGO:00075689.4CP, SOD1, SOD2
18oxidation-reduction processGO:00551148.6CP, FA2H, SOD1, SOD2

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

idNameGO IDScoreTop Affiliating Genes
1superoxide dismutase activityGO:000478410.1SOD1, SOD2
2copper ion bindingGO:000550710.1CP, SOD1
3chaperone bindingGO:00510879.7CP, SOD1
4identical protein bindingGO:00428028.5FTL, SOD1, SOD2, SYP

Sources for Aceruloplasminemia

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet