MCID: ACR006
MIFTS: 49

Aceruloplasminemia malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Metabolic diseases, Blood diseases

Aliases & Classifications for Aceruloplasminemia

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Sources:
10Disease Ontology, 68Wikipedia, 21GeneReviews, 45NIH Rare Diseases, 22GeneTests, 23Genetics Home Reference, 12DISEASES, 51Orphanet, 65UMLS, 24GTR, 28ICD10 via Orphanet, 37MESH via Orphanet
See all MalaCards sources

Aliases & Descriptions for Aceruloplasminemia:

Name: Aceruloplasminemia 10 68 21 45 22 23 12 51
Familial Apoceruloplasmin Deficiency 45 23 65
Hereditary Ceruloplasmin Deficiency 45 23 51
Hypoceruloplasminemia 45 23 24
 
Systemic Hemosiderosis Due to Aceruloplasminemia 45 23
Deficiency of Ferroxidase 23 24
Ceruloplasmin Deficiency 45 65

Characteristics:

Orphanet epidemiological data:

51
aceruloplasminemia:
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Japan),<1/1000000 (Worldwide); Age of onset: Adult; Age of death: elderly

Classifications:



External Ids:

Disease Ontology10 DOID:0050711
Orphanet51 48818
ICD10 via Orphanet28 G23.0
MESH via Orphanet37 C536004
UMLS65 C0878682, C2931082

Summaries for Aceruloplasminemia

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NIH Rare Diseases:45 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 early-onset, autosomal dominant alzheimer disease, and has symptoms including retinopathy, pollakiuria/polyuria/dysuria/anuria/acute urine retention/oliguria and diabetes mellitus. An important gene associated with Aceruloplasminemia is CP (Ceruloplasmin (Ferroxidase)), and among its related pathways are Mechanisms of CFTR activation by S-nitrosoglutathione (normal and CF) and Selenium Pathway. Affiliated tissues include retina, brain and eye, and related mouse phenotypes are vision/eye and liver/biliary system.

Disease Ontology:10 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:23 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:68 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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Graphical network of the top 20 diseases related to Aceruloplasminemia:



Diseases related to aceruloplasminemia

Symptoms for Aceruloplasminemia

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Symptoms:

 51 (show all 20)
  • retinopathy
  • pollakiuria/polyuria/dysuria/anuria/acute urine retention/oliguria
  • diabetes mellitus
  • tremor
  • chorea/athetosis/choreoathetosis/choreic syndrome
  • anaemia
  • hyperferritinemia/iron overload
  • autosomal recessive inheritance
  • ataxia/incoordination/trouble of the equilibrium
  • dystonia/torticollis/writer's cramp/blepharospasms
  • execution movement disorder/dysmetria/bradykinesia/akinesia/apraxia
  • hypertonia/spasticity/rigidity/stiffness
  • speech troubles/aphasia/dysphasia/echolalia/mutism/logorrhea/dysprosodia
  • psychic/psychomotor regression/dementia/intellectual decline
  • psychic/behavioural troubles
  • humour troubles/anxiety/depression/apathy/euphoria/irritability
  • heart/cardiac failure
  • hypothyroidy
  • elocution disorders/dysarthria/dysphonia
  • troubles of memory/amnesia/hypermnesia

UMLS symptoms related to Aceruloplasminemia:


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

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 Aceruloplasminemia22 CP

Anatomical Context for Aceruloplasminemia

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MalaCards organs/tissues related to Aceruloplasminemia:

33
Retina, Brain, Eye, Heart, Kidney, Myeloid, Temporal lobe

Animal Models for Aceruloplasminemia or affiliated genes

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MGI Mouse Phenotypes related to Aceruloplasminemia:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053918.1CP, FA2H, PANK2, SOD1, SOD2
2MP:00053708.1CP, PANK2, SOD1, SOD2, TFR2
3MP:00053977.8CP, PANK2, SOD1, SOD2, TFR2
4MP:00053767.3CP, FA2H, PANK2, SOD1, SOD2, TFR2

Publications for Aceruloplasminemia

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Articles related to Aceruloplasminemia:

(show top 50)    (show all 72)
idTitleAuthorsYear
1
Does aceruloplasminemia modulate iron phenotype in thalassemia intermedia? (26777753)
2016
2
Aceruloplasminemia With Psychomotor Excitement and Neurological Sign Was Improved by Minocycline (Case Report). (27175663)
2016
3
Movement disorders and brain iron overload in a new subtype of aceruloplasminemia. (25864092)
2015
4
Iron chelation therapy to prevent the manifestations of aceruloplasminemia. (26311749)
2015
5
Superficial siderosis associated with aceruloplasminemia. Case report. (24607334)
2014
6
Aceruloplasminemia. (25168455)
2014
7
Aceruloplasminemia in a Turkish adolescent with a novel mutation of ceruloplasmin gene: the first diagnosed case from Turkey. (25247888)
2014
8
Novel ceruloplasmin mutation causing aceruloplasminemia with hepatic iron overload and diabetes without neurological symptoms. (23557349)
2013
9
Teaching NeuroImages: neurodegeneration with brain iron accumulation in aceruloplasminemia. (24218322)
2013
10
Never forget aceruloplasminemia in case of highly suggestive Wilson's disease score. (24002824)
2013
11
Aceruloplasminemia: an update. (24209437)
2013
12
Case of presymptomatic aceruloplasminemia treated with deferasirox. (24341521)
2013
13
Effectiveness of oral iron chelator treatment with deferasirox in an aceruloplasminemia patient with a novel ceruloplasmin gene mutation. (23812204)
2013
14
Aceruloplasminemia. (22515740)
2012
15
Criteria for early identification of aceruloplasminemia. (21720062)
2011
16
Desferrioxamine treatment of aceruloplasminemia: Long-term follow-up. (21594898)
2011
17
Aceruloplasminemia: a rare disease - diagnosis and treatment of two cases. (23049345)
2011
18
Hepatic but not brain iron is rapidly chelated by deferasirox in aceruloplasminemia due to a novel gene mutation. (20801540)
2010
19
Central diabetes insipidus and hypothalamic hypothyroidism associated with aceruloplasminemia. (20686294)
2010
20
Aceruloplasminemia: a novel mutation in a family with marked phenotypic variability. (18200628)
2008
21
Redox active iron accumulation in aceruloplasminemia. (18282164)
2008
22
Cys-881 is essential for the trafficking and secretion of truncated mutant ceruloplasmin in aceruloplasminemia. (17637479)
2007
23
Movement disorder due to aceruloplasminemia and incorrect diagnosis of hereditary hemochromatosis. (17508145)
2007
24
Treatment of symptomatic heterozygous aceruloplasminemia with oral zinc sulphate. (17307325)
2007
25
Identification and in silico characterization of a novel compound heterozygosity associated with hereditary aceruloplasminemia. (17710675)
2007
26
Molecular and pathological basis of aceruloplasminemia. (16629161)
2006
27
Aceruloplasminemia (hereditary ceruloplasmin deficiency) and diabetes mellitus]. (17022509)
2006
28
Hepatic iron overload associated with a decreased serum ceruloplasmin level in a novel clinical type of aceruloplasminemia. (16831606)
2006
29
Iron overload and antioxidative role of perivascular astrocytes in aceruloplasminemia. (16599945)
2006
30
MR imaging of cerebral cortical involvement in aceruloplasminemia. (15760883)
2005
31
Aceruloplasminemia: an inherited neurodegenerative disease with impairment of iron homeostasis. (15105274)
2004
32
Aceruloplasminemia, an inherited disorder of iron metabolism. (12572680)
2003
33
Aceruloplasminemia, an iron metabolic disorder. (14719552)
2003
34
Aceruloplasminemia. (12614942)
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
The copper-iron connection: hereditary aceruloplasminemia. (12382203)
2002
38
Glial fibrillary acidic protein is greatly modified by oxidative stress in aceruloplasminemia brain. (12071349)
2002
39
Biochemical analysis of a missense mutation in aceruloplasminemia. (11689569)
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
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 (20301666)
1993
50

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

(show all 14)
idNameGO IDScoreTop Affiliating Genes
1response to nutrient levelsGO:003166710.0SOD1, SOD2
2response to hydrogen peroxideGO:00425429.9SOD1, SOD2
3regulation of blood pressureGO:00082179.9SOD1, SOD2
4negative regulation of neuron apoptotic processGO:00435249.9SOD1, SOD2
5response to axon injuryGO:00486789.8SOD1, SOD2
6glutathione metabolic processGO:00067499.7SOD1, SOD2
7superoxide anion generationGO:00425549.7SOD1, SOD2
8response to oxidative stressGO:00069799.6SOD1, SOD2
9locomotory behaviorGO:00076269.6SOD1, SOD2
10cellular iron ion homeostasisGO:00068799.5FTL, TFR2
11superoxide metabolic processGO:00068019.5SOD1, SOD2
12agingGO:00075689.4CP, SOD1, SOD2
13hydrogen peroxide biosynthetic processGO:00506659.3SOD1, SOD2
14iron ion homeostasisGO:00550729.2FTL, SOD2, TFR2

Sources for Aceruloplasminemia

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet