MCID: ACR006
MIFTS: 46

Aceruloplasminemia malady

Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Metabolic diseases, Blood diseases categories

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 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
Systemic Hemosiderosis Due to Aceruloplasminemia 45 23
 
Deficiency of Ferroxidase 23 24
Ceruloplasmin Deficiency 45 65
Hypoceruloplasminemia 45 23


Classifications:



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


External Ids:

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

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 hemosiderosis and cerebellar ataxia, 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 Detoxification of Reactive Oxygen Species. Affiliated tissues include retina, brain and eye, and related mouse phenotype 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 acp

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 98)
idRelated DiseaseScoreTop Affiliating Genes
1hemosiderosis10.4
2cerebellar ataxia10.3
3blepharospasm10.3
4hepatitis10.3
5dementia10.2
6retinal degeneration10.2
7mini stroke10.2CP, SOD1
8early-onset, autosomal dominant alzheimer disease10.2CP, SOD1
9childhood disintegrative disease10.1SOD1, SOD2
10cerebral palsy10.1GFAP, SOD1
11headache10.1GFAP, SOD1
12graphite pneumoconiosis10.1CP, SYP
13cutaneous paget's disease10.1GFAP, SYP
14desmoplastic small round cell tumor10.1GFAP, SYP
15pineal parenchymal tumor of intermediate differenciation10.1GFAP, SYP
16ureter small cell carcinoma10.1GFAP, SYP
17lung hilum cancer10.1GFAP, SYP
18chiari malformation type 110.1GFAP, SYP
19monophasic synovial sarcoma10.1GFAP, SYP
20hantavirus pulmonary syndrome10.1GFAP, SYP
21cervical incompetence10.1GFAP, SYP
22central nervous system sarcoma10.1GFAP, SYP
23cerebral arterial disease10.1GFAP, SYP
24subglottis squamous cell carcinoma10.1GFAP, SYP
25familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement10.1GFAP, SYP
26ophthalmia neonatorum10.1GFAP, SYP
27carotenemia10.1GFAP, SYP
28subpulmonary stenosis10.1GFAP, SYP
29rosette-forming glioneuronal tumor of fourth ventricule10.1GFAP, SYP
30benign mediastinal neurilemmoma10.1GFAP, SYP
31cerebrovascular disease10.1GFAP, SYP
32oligodendroglioma10.1GFAP, SYP
33ataxia10.1
34mixed gonadal dysgenesis10.1GFAP, SYP
35urethritis10.1GFAP, SYP
36supine hypotensive syndrome10.1GFAP, SYP
37supratentorial primitive neuroectodermal tumor10.1GFAP, SYP
38familial hemiplegic migraine10.1GFAP, SYP
39cervical adenitis10.1GFAP, SYP
40pineal region teratoma10.1GFAP, SYP
41anaplastic ganglioglioma10.1GFAP, SYP
42vulvar inverted follicular keratosis10.1GFAP, SYP
43survival motor neuron spinal muscular atrophy10.1GFAP, SYP
44pinheiro freire-maia miranda syndrome10.1GFAP, SYP
45pneumonia10.1CP, SOD1
46metaphyseal dysplasia10.1CP, TFR2
47progesterone-receptor positive breast cancer10.1GFAP, SYP
48spinal cord oligodendroglioma10.1GFAP, SYP
49pediculus humanus capitis infestation10.1GFAP, SYP
50cerebellum cancer10.1GFAP, SYP

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
2 Deficiency of Ferroxidase24

Anatomical Context for Aceruloplasminemia

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MalaCards organs/tissues related to Aceruloplasminemia:

33
Retina, Brain, Eye, Heart, Liver

Animal Models for Aceruloplasminemia or affiliated genes

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MGI Mouse Phenotypes related to Aceruloplasminemia:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053708.7CP, SOD1, SOD2, TFR2

Publications for Aceruloplasminemia

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Articles related to Aceruloplasminemia:

(show top 50)    (show all 67)
idTitleAuthorsYear
1
Movement disorders and brain iron overload in a new subtype of aceruloplasminemia. (25864092)
2015
2
Iron chelation therapy to prevent the manifestations of aceruloplasminemia. (26311749)
2015
3
Aceruloplasminemia presents as Type 1 diabetes in non-obese adults: a detailed case series. (25661792)
2015
4
Superficial siderosis associated with aceruloplasminemia. Case report. (24607334)
2014
5
Aceruloplasminemia. (25168455)
2014
6
Aceruloplasminemia in a Turkish adolescent with a novel mutation of ceruloplasmin gene: the first diagnosed case from Turkey. (25247888)
2014
7
Novel ceruloplasmin mutation causing aceruloplasminemia with hepatic iron overload and diabetes without neurological symptoms. (23557349)
2013
8
Teaching NeuroImages: neurodegeneration with brain iron accumulation in aceruloplasminemia. (24218322)
2013
9
Never forget aceruloplasminemia in case of highly suggestive Wilson's disease score. (24002824)
2013
10
Aceruloplasminemia: an update. (24209437)
2013
11
Case of presymptomatic aceruloplasminemia treated with deferasirox. (24341521)
2013
12
Effectiveness of oral iron chelator treatment with deferasirox in an aceruloplasminemia patient with a novel ceruloplasmin gene mutation. (23812204)
2013
13
Aceruloplasminemia. (22515740)
2012
14
Criteria for early identification of aceruloplasminemia. (21720062)
2011
15
Desferrioxamine treatment of aceruloplasminemia: Long-term follow-up. (21594898)
2011
16
Aceruloplasminemia: a rare disease - diagnosis and treatment of two cases. (23049345)
2011
17
Hepatic but not brain iron is rapidly chelated by deferasirox in aceruloplasminemia due to a novel gene mutation. (20801540)
2010
18
Central diabetes insipidus and hypothalamic hypothyroidism associated with aceruloplasminemia. (20686294)
2010
19
Redox active iron accumulation in aceruloplasminemia. (18282164)
2008
20
Aceruloplasminemia: a case report. (18408989)
2008
21
Cys-881 is essential for the trafficking and secretion of truncated mutant ceruloplasmin in aceruloplasminemia. (17637479)
2007
22
Movement disorder due to aceruloplasminemia and incorrect diagnosis of hereditary hemochromatosis. (17508145)
2007
23
Treatment of symptomatic heterozygous aceruloplasminemia with oral zinc sulphate. (17307325)
2007
24
Identification and in silico characterization of a novel compound heterozygosity associated with hereditary aceruloplasminemia. (17710675)
2007
25
Molecular and pathological basis of aceruloplasminemia. (16629161)
2006
26
Aceruloplasminemia (hereditary ceruloplasmin deficiency) and diabetes mellitus]. (17022509)
2006
27
Hepatic iron overload associated with a decreased serum ceruloplasmin level in a novel clinical type of aceruloplasminemia. (16831606)
2006
28
Iron overload and antioxidative role of perivascular astrocytes in aceruloplasminemia. (16599945)
2006
29
MR imaging of cerebral cortical involvement in aceruloplasminemia. (15760883)
2005
30
Aceruloplasminemia: an inherited neurodegenerative disease with impairment of iron homeostasis. (15105274)
2004
31
Aceruloplasminemia, an inherited disorder of iron metabolism. (12572680)
2003
32
Aceruloplasminemia, an iron metabolic disorder. (14719552)
2003
33
Aceruloplasminemia. (12614942)
2003
34
Aceruloplasminemia with juvenile-onset diabetes mellitus caused by exon skipping in the ceruloplasmin gene. (12879954)
2003
35
Not all absent serum ceruloplasmin is Wilson disease: a review of aceruloplasminemia. (12227652)
2002
36
The copper-iron connection: hereditary aceruloplasminemia. (12382203)
2002
37
Glial fibrillary acidic protein is greatly modified by oxidative stress in aceruloplasminemia brain. (12071349)
2002
38
Biochemical analysis of a missense mutation in aceruloplasminemia. (11689569)
2002
39
Defective electron transfer in complexes I and IV in patients with aceruloplasminemia. (11102640)
2000
40
Increased lipid peroxidation in the brains of aceruloplasminemia patients. (10831768)
2000
41
Aceruloplasminemia with a novel mutation associated with parkinsonism. (10983721)
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
Use of desferrioxamine in the treatment of aceruloplasminemia. (9066364)
1997
47
Expression of the ceruloplasmin gene in the human retina and brain: implications for a pathogenic model in aceruloplasminemia. (8968753)
1996
48
Late onset diabetes mellitus in patients with hereditary aceruloplasminemia. (8894739)
1996
49
Increased plasma lipid peroxidation in patients with aceruloplasminemia. (8721620)
1996
50
Aceruloplasminemia (20301666)
1993

Variations for Aceruloplasminemia

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Clinvar genetic disease variations for Aceruloplasminemia:

5 (show all 43)
id Gene Variation Type Significance SNP ID Assembly Location
1CPNM_000096.3(CP): c.3019-1G> Asingle nucleotide variantPathogenicrs386134142GRCh37Chr 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)single nucleotide variantPathogenicrs121909579GRCh37Chr 3, 148897374: 148897374
5CPNM_000096.3(CP): c.606dupA (p.Asp203Argfs)duplicationPathogenicrs386134143GRCh37Chr 3, 148927955: 148927955
6CPNM_000096.3(CP): c.2991T> G (p.His997Gln)single nucleotide variantPathogenicrs34394958GRCh38Chr 3, 149177867: 149177867
7CPNM_000096.3(CP): c.1049C> A (p.Ala350Asp)single nucleotide variantPathogenicrs386134127GRCh37Chr 3, 148924114: 148924114
8CPNM_000096.3(CP): c.229G> C (p.Asp77His)single nucleotide variantPathogenicrs200683433GRCh37Chr 3, 148930403: 148930403
9CPNM_000096.3(CP): c.650T> C (p.Phe217Ser)single nucleotide variantPathogenicrs386134125GRCh37Chr 3, 148927129: 148927129
10CPNM_000096.3(CP): c.1874G> A (p.Gly625Glu)single nucleotide variantPathogenicrs386134129GRCh37Chr 3, 148904510: 148904510
11CPNM_000096.3(CP): c.2675G> A (p.Gly892Glu)single nucleotide variantPathogenicrs386134131GRCh37Chr 3, 148896405: 148896405
12CPNM_000096.3(CP): c.2684G> C (p.Gly895Ala)single nucleotide variantPathogenicrs139633388GRCh37Chr 3, 148896396: 148896396
13CPNM_000096.3(CP): c.2962G> A (p.Gly988Ser)single nucleotide variantPathogenicrs386134133GRCh37Chr 3, 148895683: 148895683
14CPNM_000096.3(CP): c.548T> C (p.Ile183Thr)single nucleotide variantPathogenicrs386134123GRCh37Chr 3, 148928013: 148928013
15CPNM_000096.3(CP): c.82A> T (p.Ile28Phe)single nucleotide variantPathogenicrs386134121GRCh37Chr 3, 148939498: 148939498
16CPNM_000096.3(CP): c.2953A> G (p.Met985Val)single nucleotide variantPathogenicrs386134132GRCh37Chr 3, 148895692: 148895692
17CPNM_000096.3(CP): c.587C> G (p.Pro196Arg)single nucleotide variantPathogenicrs386134124GRCh37Chr 3, 148927974: 148927974
18CPNM_000096.3(CP): c.493C> G (p.Gln165Glu)single nucleotide variantPathogenicrs386134122GRCh37Chr 3, 148928068: 148928068
19CPNM_000096.3(CP): c.2131C> A (p.Gln711Lys)single nucleotide variantPathogenicrs386134130GRCh37Chr 3, 148903180: 148903180
20CPNM_000096.3(CP): c.643C> T (p.Arg215Ter)single nucleotide variantPathogenicrs386134155GRCh37Chr 3, 148927136: 148927136
21CPNM_000096.3(CP): c.2158C> T (p.Arg720Trp)single nucleotide variantPathogenicrs145784949GRCh37Chr 3, 148903153: 148903153
22CPNM_000096.3(CP): c.2701C> T (p.Arg901Ter)single nucleotide variantPathogenicrs386134156GRCh37Chr 3, 148896379: 148896379
23CPNM_000096.3(CP): c.1652C> T (p.Thr551Ile)single nucleotide variantPathogenicrs61733458GRCh37Chr 3, 148916215: 148916215
24CPNM_000096.3(CP): c.848G> C (p.Trp283Ser)single nucleotide variantPathogenicrs386134126GRCh37Chr 3, 148925338: 148925338
25CPNM_000096.3(CP): c.1123T> C (p.Tyr375His)single nucleotide variantPathogenicrs386134128GRCh37Chr 3, 148924040: 148924040
26CPNM_000096.3(CP): c.1209-2A> Gsingle nucleotide variantPathogenicrs386134137GRCh37Chr 3, 148920030: 148920030
27CPNM_000096.3(CP): c.1209_1210dupTG (p.Asp404Valfs)duplicationPathogenicrs386134138GRCh37Chr 3, 148920027: 148920028
28CPNM_000096.3(CP): c.1257_1258delTT (p.Tyr420Terfs)deletionPathogenicrs386134144GRCh37Chr 3, 148919979: 148919980
29CPNM_000096.3(CP): c.146+1G> Asingle nucleotide variantPathogenicrs386134134GRCh37Chr 3, 148939433: 148939433
30CPNM_000096.3(CP): c.1865-1G> Asingle nucleotide variantPathogenicrs386134139GRCh37Chr 3, 148904520: 148904520
31CPNM_000096.3(CP): c.1918delG (p.Asp640Ilefs)deletionPathogenicrs386134146GRCh37Chr 3, 148904466: 148904466
32CPNM_000096.3(CP): c.2065delC (p.Pro689Leufs)deletionPathogenicrs386134147GRCh37Chr 3, 148904319: 148904319
33CPNM_000096.3(CP): c.2068delG (p.Asp690Thrfs)deletionPathogenicrs386134148GRCh37Chr 3, 148904316: 148904316
34CPNM_000096.3(CP): c.2185delC (p.Leu729Trpfs)deletionPathogenicrs587777922GRCh38Chr 3, 149185339: 149185339
35CPNM_000096.3(CP): c.2482delG (p.Ala828Profs)deletionPathogenicrs386134150GRCh37Chr 3, 148899864: 148899864
36CPNM_000096.3(CP): c.2511dupT (p.Gly838Trpfs)duplicationPathogenicrs386134151GRCh37Chr 3, 148899835: 148899835
37CPNM_000096.3(CP): c.2554+1G> Tsingle nucleotide variantPathogenicrs386134140GRCh37Chr 3, 148899791: 148899791
38CPNM_000096.3(CP): c.2602delG (p.Gly868Glufs)deletionPathogenicrs386134152GRCh37Chr 3, 148897402: 148897402
39CPNM_000096.3(CP): c.2689_2690delCT (p.Leu897Aspfs)deletionPathogenicrs386134153GRCh37Chr 3, 148896390: 148896391
40CPNM_000096.3(CP): c.2879-1G> Asingle nucleotide variantPathogenicrs386134141GRCh37Chr 3, 148895767: 148895767
41CPNM_000096.3(CP): c.2917dupA (p.Thr973Asnfs)duplicationPathogenicrs386134154GRCh37Chr 3, 148895728: 148895728
42CPNM_000096.3(CP): c.395-1G> Asingle nucleotide variantPathogenicrs386134135GRCh37Chr 3, 148928167: 148928167
43CPNM_000096.3(CP): c.607+1G> Asingle nucleotide variantPathogenicrs386134136GRCh37Chr 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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Pathways related to Aceruloplasminemia according to GeneCards Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.6CP, SOD1
2
Show member pathways
9.6SOD1, SOD2
39.6SOD1, SOD2
48.9GFAP, SOD1, SYP

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 15)
idNameGO IDScoreTop Affiliating Genes
1response to superoxideGO:000030310.2SOD1, SOD2
2response to axon injuryGO:004867810.0SOD1, SOD2
3regulation of mitochondrial membrane potentialGO:005188110.0SOD1, SOD2
4response to reactive oxygen speciesGO:000030210.0SOD1, SOD2
5removal of superoxide radicalsGO:00194309.9SOD1, SOD2
6glutathione metabolic processGO:00067499.9SOD1, SOD2
7response to hydrogen peroxideGO:00425429.9SOD1, SOD2
8superoxide metabolic processGO:00068019.8SOD1, SOD2
9regulation of blood pressureGO:00082179.8SOD1, SOD2
10response to nutrient levelsGO:00316679.6SOD1, SOD2
11iron ion transportGO:00068269.6FTL, TFR2
12superoxide anion generationGO:00425549.5SOD1, SOD2
13hydrogen peroxide biosynthetic processGO:00506659.3SOD1, SOD2
14iron ion homeostasisGO:00550729.2FTL, SOD2, TFR2
15cellular iron ion homeostasisGO:00068798.3CP, FTL, SOD1, TFR2

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

idNameGO IDScoreTop Affiliating Genes
1superoxide dismutase activityGO:000478410.1SOD1, SOD2
2copper ion bindingGO:00055079.8CP, SOD1
3chaperone bindingGO:00510879.5CP, SOD1
4identical protein bindingGO:00428028.2FTL, SOD1, SOD2, SYP

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