MCID: ACR006
MIFTS: 45

Aceruloplasminemia malady

Categories: Rare diseases, Genetic diseases, Metabolic diseases

Aliases & Classifications for Aceruloplasminemia

Aliases & Descriptions for Aceruloplasminemia:

Name: Aceruloplasminemia 12 71 23 50 24 25 14
Familial Apoceruloplasmin Deficiency 50 25 69
Hypoceruloplasminemia 50 25 29
Systemic Hemosiderosis Due to Aceruloplasminemia 50 25
Hereditary Ceruloplasmin Deficiency 50 25
Deficiency of Ferroxidase 25 29
Ceruloplasmin Deficiency 50 69
Ceruloplasmin 13

Classifications:



External Ids:

Disease Ontology 12 DOID:0050711

Summaries for Aceruloplasminemia

NIH Rare Diseases : 50 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, tremor and torticollis. An important gene associated with Aceruloplasminemia is CP (Ceruloplasmin), and among its related pathways/superpathways are Neuroscience and Peroxisome. Affiliated tissues include retina, brain and eye, and related phenotypes are behavior/neurological and nervous system

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.

Disease Ontology : 12 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.

Wikipedia : 71 Aceruloplasminemia is a rare autosomal recessive disorder in which iron gradually accumulates in the... more...

GeneReviews: NBK1493

Related Diseases for Aceruloplasminemia

Diseases related to Aceruloplasminemia via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 85)
id Related Disease Score Top Affiliating Genes
1 cerebellar ataxia 11.6
2 neurodegeneration with brain iron accumulation 1 10.8
3 neurological manifestations of pompe disease 10.2 CP SOD1
4 charcot-marie-tooth disease 10.2 GFAP SOD1
5 ectodermal dysplasia bartalos type 10.1 CP SOD1
6 diabetes hypogonadism deafness mental retardation 10.1 GFAP SYP
7 papillary tumor of the pineal region 10.1 GFAP SYP
8 brain stem ependymoma 10.1 GFAP SYP
9 intrahepatic bile duct adenoma 10.1 GFAP SYP
10 pilocytic astrocytoma of cerebellum 10.1 GFAP SYP
11 children's interstitial lung disease 10.1 GFAP SYP
12 cervical benign neoplasm 10.1 GFAP SYP
13 myxopapillary ependymoma 10.1 GFAP SYP
14 epidermal appendage tumor 10.1 GFAP SYP
15 microinvasive cervical squamous cell carcinoma 10.1 GFAP SYP
16 clear cell meningioma 10.1 GFAP SYP
17 nephrogenic adenoma of urinary bladder 10.1 GFAP SYP
18 paternal uniparental disomy of chromosome 1 10.1 GFAP SYP
19 vulvar benign neoplasm 10.1 GFAP SYP
20 adenofibroma 10.1 GFAP SYP
21 pilocytic astrocytoma 10.1 GFAP SYP
22 behcet's syndrome arthropathy 10.1 GFAP SYP
23 growth retardation hydrocephaly lung hypoplasia 10.1 CP SYP
24 blood group incompatibility 10.1 GFAP SYP
25 aneurysm of sinus of valsalva 10.1 GFAP SYP
26 male reproductive system disease 10.1 GFAP SYP
27 pleomorphic xanthoastrocytoma 10.1 GFAP SYP
28 mediastinal granular cell myoblastoma 10.1 GFAP SYP
29 central neurocytoma 10.1 GFAP SYP
30 mast-cell sarcoma 10.1 GFAP SYP
31 olfactory neuroblastoma 10.1 GFAP SYP
32 hypogonadotropic hypogonadism-retinitis pigmentosa syndrome 10.1 GFAP SYP
33 superior vena cava syndrome 10.1 GFAP SYP
34 pineoblastoma 10.1 GFAP SYP
35 piussan lenaerts mathieu syndrome 10.1 GFAP SYP
36 pneumothorax 10.1 GFAP SYP
37 brain stem astrocytic neoplasm 10.1 GFAP SYP
38 calcific tendinitis 10.1 GFAP SYP
39 auricular cancer 10.1 GFAP SYP
40 dysgerminoma of ovary 10.1 GFAP SYP
41 pediculus humanus corporis infestation 10.1 GFAP SYP
42 brain oligodendroglioma 10.1 GFAP SYP
43 arthus reaction 10.1 GFAP SYP
44 childhood central nervous system primitive neuroectodermal neoplasm 10.1 GFAP SYP
45 bone dysplasia azouz type 10.1 GFAP SYP
46 pancreatic cancer 10.1 GFAP SYP
47 pacinian tumor 10.1 GFAP SYP
48 temporal lobe neoplasm 10.1 GFAP SYP
49 melanotic neurilemmoma 10.1 GFAP SYP
50 clear cell variant infiltrating bladder urothelial carcinoma 10.1 GFAP SYP

Graphical network of the top 20 diseases related to Aceruloplasminemia:



Diseases related to Aceruloplasminemia

Symptoms & Phenotypes for Aceruloplasminemia

Human phenotypes related to Aceruloplasminemia:

32 (show all 20)
id Description HPO Frequency HPO Source Accession
1 ataxia 32 HP:0001251
2 tremor 32 HP:0001337
3 torticollis 32 HP:0000473
4 depression 32 HP:0000716
5 diabetes mellitus 32 HP:0000819
6 hypothyroidism 32 HP:0000821
7 dysarthria 32 HP:0001260
8 chorea 32 HP:0002072
9 delayed speech and language development 32 HP:0000750
10 hypertonia 32 HP:0001276
11 congestive heart failure 32 HP:0001635
12 memory impairment 32 HP:0002354
13 dementia 32 HP:0000726
14 blepharospasm 32 HP:0000643
15 increased serum ferritin 32 HP:0003281
16 parkinsonism 32 HP:0001300
17 decreased serum ceruloplasmin 32 HP:0010837
18 retinal degeneration 32 HP:0000546
19 elevated hepatic iron concentration 32 HP:0012465
20 refractory anemia 32 HP:0005505

UMLS symptoms related to Aceruloplasminemia:


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

MGI Mouse Phenotypes related to Aceruloplasminemia:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.63 CP FA2H GFAP SOD1 SOD2 SYP
2 nervous system MP:0003631 9.43 CP FA2H GFAP SOD1 SOD2 SYP
3 vision/eye MP:0005391 9.02 CP FA2H GFAP SOD1 SOD2

Drugs & Therapeutics for Aceruloplasminemia

Search Clinical Trials , NIH Clinical Center for Aceruloplasminemia

Genetic Tests for Aceruloplasminemia

Genetic tests related to Aceruloplasminemia:

id Genetic test Affiliating Genes
1 Deficiency of Ferroxidase 29
2 Hypoceruloplasminemia 29
3 Aceruloplasminemia 24 CP

Anatomical Context for Aceruloplasminemia

MalaCards organs/tissues related to Aceruloplasminemia:

39
Retina, Brain, Eye, Heart, Liver

Publications for Aceruloplasminemia

Articles related to Aceruloplasminemia:

(show top 50) (show all 75)
id Title Authors Year
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

ClinVar genetic disease variations for Aceruloplasminemia:

6 (show all 40)
id Gene Variation Type Significance SNP ID Assembly Location
1 CP NM_000096.3(CP): c.3019-1G> A single nucleotide variant Pathogenic rs386134142 GRCh37 Chromosome 3, 148894200: 148894200
2 CP NM_000096.3(CP): c.2389delG (p.Glu797Argfs) deletion Pathogenic rs386134149 GRCh37 Chromosome 3, 148901289: 148901289
3 CP NM_000096.3(CP): c.1286_1287insTACAC (p.Asp430Thrfs) insertion Pathogenic rs386134145 GRCh37 Chromosome 3, 148919950: 148919951
4 CP NM_000096.3(CP): c.2630G> A (p.Trp877Ter) single nucleotide variant Pathogenic rs121909579 GRCh37 Chromosome 3, 148897374: 148897374
5 CP NM_000096.3(CP): c.606dupA (p.Asp203Argfs) duplication Pathogenic rs386134143 GRCh37 Chromosome 3, 148927955: 148927955
6 CP NM_000096.3(CP): c.1049C> A (p.Ala350Asp) single nucleotide variant Pathogenic rs386134127 GRCh37 Chromosome 3, 148924114: 148924114
7 CP NM_000096.3(CP): c.229G> C (p.Asp77His) single nucleotide variant Pathogenic rs200683433 GRCh37 Chromosome 3, 148930403: 148930403
8 CP NM_000096.3(CP): c.650T> C (p.Phe217Ser) single nucleotide variant Pathogenic rs386134125 GRCh37 Chromosome 3, 148927129: 148927129
9 CP NM_000096.3(CP): c.1874G> A (p.Gly625Glu) single nucleotide variant Pathogenic rs386134129 GRCh37 Chromosome 3, 148904510: 148904510
10 CP NM_000096.3(CP): c.2675G> A (p.Gly892Glu) single nucleotide variant Pathogenic rs386134131 GRCh37 Chromosome 3, 148896405: 148896405
11 CP NM_000096.3(CP): c.2962G> A (p.Gly988Ser) single nucleotide variant Pathogenic rs386134133 GRCh37 Chromosome 3, 148895683: 148895683
12 CP NM_000096.3(CP): c.548T> C (p.Ile183Thr) single nucleotide variant Pathogenic rs386134123 GRCh37 Chromosome 3, 148928013: 148928013
13 CP NM_000096.3(CP): c.82A> T (p.Ile28Phe) single nucleotide variant Pathogenic rs386134121 GRCh37 Chromosome 3, 148939498: 148939498
14 CP NM_000096.3(CP): c.2953A> G (p.Met985Val) single nucleotide variant Pathogenic rs386134132 GRCh37 Chromosome 3, 148895692: 148895692
15 CP NM_000096.3(CP): c.587C> G (p.Pro196Arg) single nucleotide variant Pathogenic rs386134124 GRCh37 Chromosome 3, 148927974: 148927974
16 CP NM_000096.3(CP): c.493C> G (p.Gln165Glu) single nucleotide variant Pathogenic rs386134122 GRCh37 Chromosome 3, 148928068: 148928068
17 CP NM_000096.3(CP): c.2131C> A (p.Gln711Lys) single nucleotide variant Pathogenic rs386134130 GRCh37 Chromosome 3, 148903180: 148903180
18 CP NM_000096.3(CP): c.643C> T (p.Arg215Ter) single nucleotide variant Pathogenic rs386134155 GRCh37 Chromosome 3, 148927136: 148927136
19 CP NM_000096.3(CP): c.2701C> T (p.Arg901Ter) single nucleotide variant Pathogenic rs386134156 GRCh37 Chromosome 3, 148896379: 148896379
20 CP NM_000096.3(CP): c.848G> C (p.Trp283Ser) single nucleotide variant Pathogenic rs386134126 GRCh37 Chromosome 3, 148925338: 148925338
21 CP NM_000096.3(CP): c.1123T> C (p.Tyr375His) single nucleotide variant Pathogenic rs386134128 GRCh37 Chromosome 3, 148924040: 148924040
22 CP NM_000096.3(CP): c.1209-2A> G single nucleotide variant Pathogenic rs386134137 GRCh37 Chromosome 3, 148920030: 148920030
23 CP NM_000096.3(CP): c.1209_1210dupTG (p.Asp404Valfs) duplication Pathogenic rs386134138 GRCh37 Chromosome 3, 148920027: 148920028
24 CP NM_000096.3(CP): c.1257_1258delTT (p.Tyr420Terfs) deletion Pathogenic rs386134144 GRCh37 Chromosome 3, 148919979: 148919980
25 CP NM_000096.3(CP): c.146+1G> A single nucleotide variant Pathogenic rs386134134 GRCh37 Chromosome 3, 148939433: 148939433
26 CP NM_000096.3(CP): c.1865-1G> A single nucleotide variant Pathogenic rs386134139 GRCh37 Chromosome 3, 148904520: 148904520
27 CP NM_000096.3(CP): c.1918delG (p.Asp640Ilefs) deletion Pathogenic rs386134146 GRCh37 Chromosome 3, 148904466: 148904466
28 CP NM_000096.3(CP): c.2065delC (p.Pro689Leufs) deletion Pathogenic rs386134147 GRCh37 Chromosome 3, 148904319: 148904319
29 CP NM_000096.3(CP): c.2068delG (p.Asp690Thrfs) deletion Pathogenic rs386134148 GRCh37 Chromosome 3, 148904316: 148904316
30 CP NM_000096.3(CP): c.2185delC (p.Leu729Trpfs) deletion Pathogenic rs587777922 GRCh38 Chromosome 3, 149185339: 149185339
31 CP NM_000096.3(CP): c.2482delG (p.Ala828Profs) deletion Pathogenic rs386134150 GRCh37 Chromosome 3, 148899864: 148899864
32 CP NM_000096.3(CP): c.2511dupT (p.Gly838Trpfs) duplication Pathogenic rs386134151 GRCh37 Chromosome 3, 148899835: 148899835
33 CP NM_000096.3(CP): c.2554+1G> T single nucleotide variant Pathogenic rs386134140 GRCh37 Chromosome 3, 148899791: 148899791
34 CP NM_000096.3(CP): c.2602delG (p.Gly868Glufs) deletion Pathogenic rs386134152 GRCh37 Chromosome 3, 148897402: 148897402
35 CP NM_000096.3(CP): c.2689_2690delCT (p.Leu897Aspfs) deletion Pathogenic rs386134153 GRCh37 Chromosome 3, 148896390: 148896391
36 CP NM_000096.3(CP): c.2879-1G> A single nucleotide variant Pathogenic rs386134141 GRCh37 Chromosome 3, 148895767: 148895767
37 CP NM_000096.3(CP): c.2917dupA (p.Thr973Asnfs) duplication Pathogenic rs386134154 GRCh37 Chromosome 3, 148895728: 148895728
38 CP NM_000096.3(CP): c.395-1G> A single nucleotide variant Pathogenic rs386134135 GRCh37 Chromosome 3, 148928167: 148928167
39 CP NM_000096.3(CP): c.607+1G> A single nucleotide variant Pathogenic rs386134136 GRCh37 Chromosome 3, 148927953: 148927953
40 CP NM_000096.3(CP): c.2991T> G (p.His997Gln) single nucleotide variant Pathogenic rs34394958 GRCh37 Chromosome 3, 148895654: 148895654

Expression for Aceruloplasminemia

Search GEO for disease gene expression data for Aceruloplasminemia.

Pathways for Aceruloplasminemia

GO Terms for Aceruloplasminemia

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

(show all 15)
id Name GO ID Score Top Affiliating Genes
1 oxidation-reduction process GO:0055114 9.76 CP FA2H SOD1 SOD2
2 regulation of blood pressure GO:0008217 9.55 SOD1 SOD2
3 response to nutrient levels GO:0031667 9.54 SOD1 SOD2
4 response to hydrogen peroxide GO:0042542 9.52 SOD1 SOD2
5 glutathione metabolic process GO:0006749 9.51 SOD1 SOD2
6 iron ion homeostasis GO:0055072 9.49 FTL SOD2
7 regulation of mitochondrial membrane potential GO:0051881 9.48 SOD1 SOD2
8 response to axon injury GO:0048678 9.43 SOD1 SOD2
9 superoxide metabolic process GO:0006801 9.4 SOD1 SOD2
10 superoxide anion generation GO:0042554 9.37 SOD1 SOD2
11 removal of superoxide radicals GO:0019430 9.32 SOD1 SOD2
12 hydrogen peroxide biosynthetic process GO:0050665 9.26 SOD1 SOD2
13 response to superoxide GO:0000303 9.16 SOD1 SOD2
14 peripheral nervous system myelin maintenance GO:0032287 8.96 FA2H SOD1
15 cellular iron ion homeostasis GO:0006879 8.8 CP FTL SOD1

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

id Name GO ID Score Top Affiliating Genes
1 oxidoreductase activity GO:0016491 9.46 CP FA2H SOD1 SOD2
2 copper ion binding GO:0005507 9.26 CP SOD1
3 identical protein binding GO:0042802 9.02 FTL GFAP SOD1 SOD2 SYP
4 superoxide dismutase activity GO:0004784 8.96 SOD1 SOD2

Sources for Aceruloplasminemia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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