MCID: ACR006
MIFTS: 45

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 Ferroptosis. Affiliated tissues include retina, brain and eye, 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 85)
idRelated DiseaseScoreTop Affiliating Genes
1cerebellar ataxia11.6
2neurodegeneration with brain iron accumulation 110.8
3neurological manifestations of pompe disease10.2CP, SOD1
4charcot-marie-tooth disease10.2GFAP, SOD1
5ectodermal dysplasia bartalos type10.1CP, SOD1
6diabetes hypogonadism deafness mental retardation10.1GFAP, SYP
7papillary tumor of the pineal region10.1GFAP, SYP
8brain stem ependymoma10.1GFAP, SYP
9intrahepatic bile duct adenoma10.1GFAP, SYP
10pilocytic astrocytoma of cerebellum10.1GFAP, SYP
11children's interstitial lung disease10.1GFAP, SYP
12cervical benign neoplasm10.1GFAP, SYP
13myxopapillary ependymoma10.1GFAP, SYP
14epidermal appendage tumor10.1GFAP, SYP
15microinvasive cervical squamous cell carcinoma10.1GFAP, SYP
16clear cell meningioma10.1GFAP, SYP
17nephrogenic adenoma of urinary bladder10.1GFAP, SYP
18paternal uniparental disomy of chromosome 110.1GFAP, SYP
19vulvar benign neoplasm10.1GFAP, SYP
20adenofibroma10.1GFAP, SYP
21pilocytic astrocytoma10.1GFAP, SYP
22behcet's syndrome arthropathy10.1GFAP, SYP
23growth retardation hydrocephaly lung hypoplasia10.1CP, SYP
24blood group incompatibility10.1GFAP, SYP
25aneurysm of sinus of valsalva10.1GFAP, SYP
26male reproductive system disease10.1GFAP, SYP
27pleomorphic xanthoastrocytoma10.1GFAP, SYP
28mediastinal granular cell myoblastoma10.1GFAP, SYP
29central neurocytoma10.1GFAP, SYP
30mast-cell sarcoma10.1GFAP, SYP
31olfactory neuroblastoma10.1GFAP, SYP
32hypogonadotropic hypogonadism-retinitis pigmentosa syndrome10.1GFAP, SYP
33superior vena cava syndrome10.1GFAP, SYP
34pineoblastoma10.1GFAP, SYP
35piussan lenaerts mathieu syndrome10.1GFAP, SYP
36pneumothorax10.1GFAP, SYP
37brain stem astrocytic neoplasm10.1GFAP, SYP
38calcific tendinitis10.1GFAP, SYP
39auricular cancer10.1GFAP, SYP
40dysgerminoma of ovary10.1GFAP, SYP
41pediculus humanus corporis infestation10.1GFAP, SYP
42brain oligodendroglioma10.1GFAP, SYP
43arthus reaction10.1GFAP, SYP
44childhood central nervous system primitive neuroectodermal neoplasm10.1GFAP, SYP
45bone dysplasia azouz type10.1GFAP, SYP
46pancreatic cancer10.1GFAP, SYP
47pacinian tumor10.1GFAP, SYP
48temporal lobe neoplasm10.1GFAP, SYP
49melanotic neurilemmoma10.1GFAP, SYP
50clear cell variant infiltrating bladder urothelial carcinoma10.1GFAP, SYP

Graphical network of the top 20 diseases related to Aceruloplasminemia:



Diseases related to aceruloplasminemia

Symptoms & Phenotypes for Aceruloplasminemia

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Human phenotypes related to Aceruloplasminemia:

 64 (show all 20)
id Description HPO Frequency HPO Source Accession
1 torticollis64 HP:0000473
2 retinal degeneration64 HP:0000546
3 blepharospasm64 HP:0000643
4 depression64 HP:0000716
5 dementia64 HP:0000726
6 delayed speech and language development64 HP:0000750
7 diabetes mellitus64 HP:0000819
8 hypothyroidism64 HP:0000821
9 ataxia64 HP:0001251
10 dysarthria64 HP:0001260
11 hypertonia64 HP:0001276
12 parkinsonism64 HP:0001300
13 tremor64 HP:0001337
14 congestive heart failure64 HP:0001635
15 chorea64 HP:0002072
16 memory impairment64 HP:0002354
17 increased serum ferritin64 HP:0003281
18 refractory anemia64 HP:0005505
19 decreased serum ceruloplasmin64 HP:0010837
20 elevated hepatic iron concentration64 HP:0012465

UMLS symptoms related to Aceruloplasminemia:


ataxia, torticollis, cogwheel rigidity, abnormality of extrapyramidal motor function, scanning speech

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

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053868.1CP, FA2H, GFAP, SOD1, SOD2, SYP
2MP:00036318.0CP, FA2H, GFAP, SOD1, SOD2, SYP
3MP:00053917.9CP, 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
Retina, Brain, Eye, Heart, Liver

Publications for Aceruloplasminemia

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Articles related to Aceruloplasminemia:

(show top 50)    (show all 75)
idTitleAuthorsYear
1
New insights in the neurological phenotype of aceruloplasminemia in Caucasian patients. (28012953)
2016
2
Is aceruloplasminemia treatable? Combining iron chelation and fresh-frozen plasma treatment. (27817091)
2016
3
Aceruloplasminemia With Positive Ceruloplasm Gene Mutation. (27416276)
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 Psychomotor Excitement and Neurological Sign Was Improved by Minocycline (Case Report). (27175663)
2016
7
Aceruloplasminemia presents as Type 1 diabetes in non-obese adults: a detailed case series. (25661792)
2015
8
Movement disorders and brain iron overload in a new subtype of aceruloplasminemia. (25864092)
2015
9
Aceruloplasminemia: neurodegeneration with brain iron accumulation (NBIA) associated with parkinsonism. (25413956)
2015
10
Iron chelation therapy to prevent the manifestations of aceruloplasminemia. (26311749)
2015
11
Aceruloplasminemia: An entity to consider in patients with anemia. (25287242)
2014
12
Superficial siderosis associated with aceruloplasminemia. Case report. (24607334)
2014
13
Aceruloplasminemia. (25168455)
2014
14
Aceruloplasminemia in a Turkish adolescent with a novel mutation of ceruloplasmin gene: the first diagnosed case from Turkey. (25247888)
2014
15
Effectiveness of oral iron chelator treatment with deferasirox in an aceruloplasminemia patient with a novel ceruloplasmin gene mutation. (23812204)
2013
16
Novel ceruloplasmin mutation causing aceruloplasminemia with hepatic iron overload and diabetes without neurological symptoms. (23557349)
2013
17
Aceruloplasminemia: an update. (24209437)
2013
18
Teaching NeuroImages: neurodegeneration with brain iron accumulation in aceruloplasminemia. (24218322)
2013
19
Brain and liver iron accumulation in aceruloplasminemia. (24323439)
2013
20
Never forget aceruloplasminemia in case of highly suggestive Wilson's disease score. (24002824)
2013
21
Case of presymptomatic aceruloplasminemia treated with deferasirox. (24341521)
2013
22
Aceruloplasminemia. (22515740)
2012
23
Extensive brain pathology in a patient with aceruloplasminemia with a prolonged duration of illness. (21889188)
2012
24
Aceruloplasminemia: a rare disease - diagnosis and treatment of two cases. (23049345)
2011
25
Desferrioxamine treatment of aceruloplasminemia: Long-term follow-up. (21594898)
2011
26
Criteria for early identification of aceruloplasminemia. (21720062)
2011
27
Aceruloplasminemia: retinal histopathologic manifestations and iron-mediated melanosome degradation. (22084216)
2011
28
Central diabetes insipidus and hypothalamic hypothyroidism associated with aceruloplasminemia. (20686294)
2010
29
Hepatic but not brain iron is rapidly chelated by deferasirox in aceruloplasminemia due to a novel gene mutation. (20801540)
2010
30
Aceruloplasminemia in a Japanese woman with a novel mutation of CP gene: clinical presentations and analysis of genetic and molecular pathogenesis. (20828764)
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
Microglia and astroglia prevent oxidative stress-induced neuronal cell death: implications for aceruloplasminemia. (18187051)
2008
34
Aceruloplasminemia: a case report. (18408989)
2008
35
Redox active iron accumulation in aceruloplasminemia. (18282164)
2008
36
Aceruloplasminemia: a novel mutation in a family with marked phenotypic variability. (18200628)
2008
37
Identification and in silico characterization of a novel compound heterozygosity associated with hereditary aceruloplasminemia. (17710675)
2007
38
Cys-881 is essential for the trafficking and secretion of truncated mutant ceruloplasmin in aceruloplasminemia. (17637479)
2007
39
Movement disorder due to aceruloplasminemia and incorrect diagnosis of hereditary hemochromatosis. (17508145)
2007
40
Treatment of symptomatic heterozygous aceruloplasminemia with oral zinc sulphate. (17307325)
2007
41
Iron overload and antioxidative role of perivascular astrocytes in aceruloplasminemia. (16599945)
2006
42
Biochemical features of ceruloplasmin gene mutations linked to aceruloplasminemia. (16775387)
2006
43
Schizophrenia-like psychosis and aceruloplasminemia. (19412506)
2006
44
Hepatic iron overload associated with a decreased serum ceruloplasmin level in a novel clinical type of aceruloplasminemia. (16831606)
2006
45
Molecular and pathological basis of aceruloplasminemia. (16629161)
2006
46
Aceruloplasminemia (hereditary ceruloplasmin deficiency) and diabetes mellitus]. (17022509)
2006
47
MR imaging of cerebral cortical involvement in aceruloplasminemia. (15760883)
2005
48
Aceruloplasminemia in an asymptomatic patient with a new mutation. Diagnosis and family genetic analysis. (15885371)
2005
49
Frontal lobe dysfunction associated with glucose hypometabolism in aceruloplasminemia. (15765266)
2005
50
A fungal multicopper oxidase restores iron homeostasis in aceruloplasminemia. (14739215)
2004

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 15)
idNameGO IDScoreTop Affiliating Genes
1glutathione metabolic processGO:000674910.3SOD1, SOD2
2hydrogen peroxide biosynthetic processGO:005066510.3SOD1, SOD2
3iron ion homeostasisGO:005507210.2FTL, SOD2
4regulation of blood pressureGO:000821710.1SOD1, 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
9response to nutrient levelsGO:003166710.0SOD1, SOD2
10response to superoxideGO:000030310.0SOD1, SOD2
11superoxide anion generationGO:00425549.9SOD1, SOD2
12cellular iron ion homeostasisGO:00068799.8CP, FTL, SOD1
13peripheral nervous system myelin maintenanceGO:00322879.8FA2H, SOD1
14superoxide metabolic processGO:00068019.5SOD1, SOD2
15oxidation-reduction processGO:00551149.0CP, FA2H, SOD1, SOD2

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

idNameGO IDScoreTop Affiliating Genes
1copper ion bindingGO:000550710.3CP, SOD1
2superoxide dismutase activityGO:00047849.5SOD1, SOD2
3identical protein bindingGO:00428028.6FTL, GFAP, SOD1, SOD2, SYP
4oxidoreductase activityGO:00164918.5CP, FA2H, SOD1, SOD2

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