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 neurodegeneration with brain iron accumulation 1, 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

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, Myeloid, Testes, Pineal

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 69)
idTitleAuthorsYear
1
Pelvic inflammatory disease. (27107781)
2016
2
Re: Toll-like 4 receptor variant, Asp299Gly, and reduced risk of hemorrhagic cystitis after hematopoietic stem cell transplantation. (24209529)
2013
3
HIV type 1 origin and transmission dynamics among different risk groups in sardinia: molecular epidemiology within the close boundaries of an Italian island. (22985362)
2013
4
Study of thyroid function in Egyptian children with I^-thalassemia major and I^-thalassemia intermedia. (24374948)
2013
5
Laboratory Diagnosis of Human Rabies: Recent Advances. (24348170)
2013
6
Kinetic mechanism of p53 oncogenic mutant aggregation and its inhibition. (22869713)
2012
7
Effect of irbesartan on the proliferation, apoptosis and VEGF mRNA expression of human umbilical vein cell line ea. hy926 in vitro]. (22493900)
2012
8
Intracranial hypertension secondary to abdominal compartment syndrome in a girl with giant ovarian cystic mass. (21842281)
2012
9
ADRA2A polymorphisms and ADHD in adults: possible mediating effect of personality. (20864182)
2011
10
hSNF5 is required for human papillomavirus E2-driven transcriptional activation and DNA replication. (20829602)
2011
11
Perils and pitfalls regarding differential diagnosis and treatment of primary cutaneous anaplastic large-cell lymphoma. (21552770)
2011
12
Letter from the DSMC regarding a clinical trial of lutein in patients with retinitis pigmentosa. (21555632)
2011
13
Positive correlation of PTH-related peptide with glucose in type 2 diabetes. (19727413)
2009
14
Cancer progenitors and epigenetic contexts: an Xisting connection. (19923898)
2009
15
Characterization of neutralizing epitopes of varicella-zoster virus glycoprotein H. (19073736)
2009
16
Influence of long-term gastric acid suppression therapy on the expression of serum gastrin, chromogranin A, and ghrelin]. (19237833)
2009
17
Effects of psychological stress on serum iron and erythropoiesis. (18543064)
2008
18
Pupillography of automated swinging flashlight test in amblyopia. (19668431)
2008
19
Kcnq1ot1 antisense noncoding RNA mediates lineage-specific transcriptional silencing through chromatin-level regulation. (18951091)
2008
20
Skeletal muscle fatty acid transporter protein expression in type 2 diabetes patients compared with overweight, sedentary men and age-matched, endurance-trained cyclists. (17394567)
2007
21
Long-term uncontrolled hereditary gingival fibromatosis: a case report. (17211510)
2007
22
Rap1: a key regulator in cell-cell junction formation. (17182900)
2007
23
Ochratoxin A displaces claudins from detergent resistant membrane microdomains. (17499213)
2007
24
Preparation and characterization of dialkylphosphoryl-obidoxime conjugates, potent anticholinesterase derivatives that are quickly hydrolyzed by human paraoxonase (PON1192Q). (17714697)
2007
25
Phospholipase Cgamma/diacylglycerol-dependent activation of beta2-chimaerin restricts EGF-induced Rac signaling. (16628218)
2006
26
RB and RB2/p130 genes demonstrate both specific and overlapping functions during the early steps of in vitro neural differentiation of marrow stromal stem cells. (15459751)
2005
27
Correlation between the polymorphism of glycoprotein Ia gene and acute coronary syndrome. (15104219)
2004
28
Cloning and characterization of the human IFT20 gene. (14672413)
2003
29
c-Myc overcomes cell cycle inhibition by CBFbeta-SMMHC, a myeloid leukemia oncoprotein. (12496475)
2002
30
Domain V of m-calpain shows the potential to form an oblique-orientated alpha-helix, which may modulate the enzyme's activity via interactions with anionic lipid. (12423339)
2002
31
What is the risk of alcoholic pancreatitis in heavy drinkers? (12409838)
2002
32
Gelation of casein-whey mixtures: effects of heating whey proteins alone or in the presence of casein micelles. (11694049)
2001
33
Epithelial and bacterial metalloproteinases and their inhibitors in H. pylori infection of human gastric cells. (11518695)
2001
34
Allosteric inhibitors of inducible nitric oxide synthase dimerization discovered via combinatorial chemistry. (10677491)
2000
35
Baseline prediction of 7-month cocaine abstinence for cocaine dependence patients. (10812282)
2000
36
Effects of EGF and TGFbeta1 on c-myc gene expression and DNA synthesis in embryonic hamster palate mesenchymal cells. (10203253)
1999
37
Expression of four rat CYP2D isoforms in Saccharomyces cerevisiae and their catalytic specificity. (9434752)
1997
38
Na,K-ATPase in the cochlear lateral wall of human temporal bones with endolymphatic hydrops. (8534024)
1995
39
Potential for fertility with replacement of hypothalamic gonadotropin-releasing hormone in long term female survivors of cranial tumors. (7962290)
1994
40
Analysis of virus-specific RNA species and proteins in Freon-113 preparations of the Borna disease virus. (8283962)
1993
41
Localization of two tyrosine kinase receptor genes with respect to the 5q35 chromosomal breakpoint of Ki-1 lymphoma cell lines. (7504515)
1993
42
Effects of insulin-like growth factor-I on glucose tolerance, insulin levels, and insulin secretion. (1601998)
1992
43
Plasma ANP during hypertonic NaCl infusion in man. (1533483)
1992
44
Identification and characterization of alpha 2D-adrenergic receptors in bovine pineal gland. (1652052)
1991
45
Spectrum of heart malformations in mice with situs solitus, situs inversus, and associated visceral heterotaxy. (1959204)
1991
46
A scintigraphic demonstration of dextrocardia and complete abdominal situs inversus. (2383941)
1990
47
The malignant histiocytosis sarcoma virus, a recombinant of Harvey murine sarcoma virus and Friend mink cell focus-forming virus, has acquired myeloid transformation specificity by alterations in the long terminal repeat. (2152823)
1990
48
Acquired, bilateral nevus of Ota-like macules. (3973130)
1985
49
Long-term follow-up study of periarteritis nodosa. (4157287)
1967
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