ACERULOP
MCID: ACR006
MIFTS: 70

Aceruloplasminemia (ACERULOP)

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

Aliases & Classifications for Aceruloplasminemia

MalaCards integrated aliases for Aceruloplasminemia:

Name: Aceruloplasminemia 57 12 76 24 53 25 59 75 37 15 38 40
Cerebellar Ataxia 57 38 12 29 13 6 44 15
Hypoceruloplasminemia 53 25 29 6
Hemosiderosis, Systemic, Due to Aceruloplasminemia 57 29 6
Familial Apoceruloplasmin Deficiency 53 25 73
Hereditary Ceruloplasmin Deficiency 53 25 59
Deficiency of Ferroxidase 25 29 6
Systemic Hemosiderosis Due to Aceruloplasminemia 53 25
Ceruloplasmin Deficiency 53 73
Hypoceruloplasminemia, Hereditary 57
Ceruloplasmin 13
Acerulop 75

Characteristics:

Orphanet epidemiological data:

59
aceruloplasminemia
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Japan),<1/1000000 (Worldwide); Age of onset: Adult; Age of death: elderly;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset between age 30-50 years


HPO:

32
aceruloplasminemia:
Onset and clinical course adult onset
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Aceruloplasminemia

NIH Rare Diseases : 53 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.

MalaCards based summary : Aceruloplasminemia, also known as cerebellar ataxia, is related to autosomal dominant cerebellar ataxia and autosomal recessive cerebellar ataxia, and has symptoms including ataxia, abnormality of extrapyramidal motor function and torticollis. An important gene associated with Aceruloplasminemia is CP (Ceruloplasmin), and among its related pathways/superpathways are Ferroptosis and Porphyrin and chlorophyll metabolism. Affiliated tissues include Adipose and Adipose, and related phenotypes are depressivity and diabetes mellitus

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.

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.

UniProtKB/Swiss-Prot : 75 Aceruloplasminemia: An autosomal recessive disorder of iron metabolism characterized by iron accumulation in the brain as well as visceral organs. Clinical features consist of the triad of retinal degeneration, diabetes mellitus and neurological disturbances.

Wikipedia : 76 Aceruloplasminemia is a rare autosomal recessive disorder in which the liver can not synthesis the... more...

Description from OMIM: 604290
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 608)
# Related Disease Score Top Affiliating Genes
1 autosomal dominant cerebellar ataxia 34.2 ATXN3 ATXN7 CACNA1A FXN PPP2R2B
2 autosomal recessive cerebellar ataxia 33.9 ATM FXN SETX
3 spinocerebellar ataxia 2 33.3 ATXN3 ATXN7 CACNA1A
4 spinocerebellar ataxia 12 33.1 ATXN3 ATXN7 CACNA1A PPP2R2B
5 spinocerebellar ataxia 1 33.0 ATXN3 ATXN7 CACNA1A
6 machado-joseph disease 32.8 ATXN3 ATXN7 CACNA1A
7 spinocerebellar ataxia 6 32.8 ATXN3 ATXN7 CACNA1A
8 spastic ataxia, charlevoix-saguenay type 32.8 FXN SETX
9 dentatorubral-pallidoluysian atrophy 32.6 ATXN3 ATXN7 CACNA1A PPP2R2B
10 spinocerebellar ataxia 31 32.3 ATXN3 ATXN7 CACNA1A SETX
11 neuronal intranuclear inclusion disease 32.2 ATXN3 DNM1
12 spinocerebellar ataxia 18 32.2 ATXN3 ATXN7 CACNA1A
13 spinocerebellar ataxia 17 32.1 ATXN3 ATXN7 CACNA1A
14 anemia, sideroblastic, and spinocerebellar ataxia 31.7 ABCB7 FXN
15 dystonia 30.8 ATXN3 FA2H FTL NPC1 PANK2 PLA2G6
16 neurodegeneration with brain iron accumulation 30.8 FA2H FTL PANK2 PLA2G6
17 friedreich ataxia 1 30.7 ABCB7 ATXN3 CACNA1A FXN SETX
18 3-methylglutaconic aciduria, type iii 30.5 FA2H FXN PANK2 PLA2G6
19 hereditary spastic paraplegia 30.5 ATXN3 FA2H PLA2G6 SETX
20 movement disease 30.4 FTL PANK2 SLC2A1
21 hemochromatosis, type 1 30.4 ABCB7 CP FTL FXN
22 cerebellar disease 30.1 ATM ATXN3 ATXN7 CACNA1A PPP2R2B SETX
23 cerebellar ataxia, deafness, and narcolepsy, autosomal dominant 12.6
24 cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1 12.6
25 cerebellar ataxia and ectodermal dysplasia 12.6
26 cerebellar ataxia, mental retardation, and dysequilibrium syndrome 3 12.5
27 cerebellar ataxia, nonprogressive, with mental retardation 12.5
28 myoclonus, cerebellar ataxia, and deafness 12.5
29 cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss 12.5
30 cerebellar ataxia, cayman type 12.5
31 cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2 12.5
32 cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4 12.4
33 cerebellar ataxia, neuropathy, and vestibular areflexia syndrome 12.4
34 cerebellar ataxia, mental retardation and dysequlibrium syndrome 12.4
35 cognitive impairment with or without cerebellar ataxia 12.4
36 cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss 12.4
37 corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia 12.4
38 intellectual developmental disorder with or without epilepsy or cerebellar ataxia 12.3
39 cerebellar ataxia, early-onset, with retained tendon reflexes 12.3
40 renal tubulopathy, diabetes mellitus, and cerebellar ataxia due to duplication of mitochondrial dna 12.3
41 cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome 12.3
42 spinocerebellar ataxia, autosomal recessive 8 12.2
43 gillespie syndrome 12.2
44 autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome 12.2
45 branchial myoclonus with spastic paraparesis and cerebellar ataxia 12.2
46 cerebellar ataxia and neurosensory deafness 12.2
47 syne1-related autosomal recessive cerebellar ataxia 12.2
48 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia 12.1
49 brachydactyly-nystagmus-cerebellar ataxia 12.1
50 cerebellar ataxia, benign, with thermoanalgesia 12.1

Graphical network of the top 20 diseases related to Aceruloplasminemia:



Diseases related to Aceruloplasminemia

Symptoms & Phenotypes for Aceruloplasminemia

Symptoms via clinical synopsis from OMIM:

57
Endocrine Features:
diabetes mellitus

Head And Neck Eyes:
blepharospasm
retinal degeneration

Hematology:
mild anemia

Neurologic Central Nervous System:
ataxia
dysarthria
chorea
torticollis
scanning speech
more
Laboratory Abnormalities:
increased serum ferritin
iron deposition in basal ganglia, liver, pancreas, visceral organs detectable by ct and mri
decreased or absent serum ceruloplasmin
decreased serum iron


Clinical features from OMIM:

604290

Human phenotypes related to Aceruloplasminemia:

59 32 (show all 29)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 depressivity 59 32 frequent (33%) Frequent (79-30%) HP:0000716
2 diabetes mellitus 59 32 hallmark (90%) Very frequent (99-80%) HP:0000819
3 hypothyroidism 59 32 occasional (7.5%) Occasional (29-5%) HP:0000821
4 ataxia 59 32 frequent (33%) Frequent (79-30%) HP:0001251
5 dysarthria 59 32 occasional (7.5%) Occasional (29-5%) HP:0001260
6 tremor 59 32 hallmark (90%) Very frequent (99-80%) HP:0001337
7 chorea 59 32 hallmark (90%) Very frequent (99-80%) HP:0002072
8 delayed speech and language development 59 32 frequent (33%) Frequent (79-30%) HP:0000750
9 hypertonia 59 32 frequent (33%) Frequent (79-30%) HP:0001276
10 congestive heart failure 59 32 occasional (7.5%) Occasional (29-5%) HP:0001635
11 memory impairment 59 32 occasional (7.5%) Occasional (29-5%) HP:0002354
12 dementia 59 32 frequent (33%) Frequent (79-30%) HP:0000726
13 blepharospasm 59 32 frequent (33%) Frequent (79-30%) HP:0000643
14 torticollis 59 32 frequent (33%) Frequent (79-30%) HP:0000473
15 increased serum ferritin 59 32 hallmark (90%) Very frequent (99-80%) HP:0003281
16 parkinsonism 59 32 frequent (33%) Frequent (79-30%) HP:0001300
17 decreased serum ceruloplasmin 59 32 hallmark (90%) Very frequent (99-80%) HP:0010837
18 elevated hepatic iron concentration 59 32 hallmark (90%) Very frequent (99-80%) HP:0012465
19 refractory anemia 59 32 hallmark (90%) Very frequent (99-80%) HP:0005505
20 behavioral abnormality 59 Frequent (79-30%)
21 anemia 32 HP:0001903
22 abnormality of extrapyramidal motor function 32 HP:0002071
23 involuntary movements 59 Frequent (79-30%)
24 scanning speech 32 HP:0002168
25 retinal degeneration 32 hallmark (90%) HP:0000546
26 cogwheel rigidity 32 HP:0002396
27 retinal lesions 59 Very frequent (99-80%)
28 decreased serum iron 32 HP:0040303
29 aceruloplasminemia 32 HP:0025498

UMLS symptoms related to Aceruloplasminemia:


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

GenomeRNAi Phenotypes related to Aceruloplasminemia according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00221-A-1 10.12 FXN
2 Decreased viability GR00221-A-3 10.12 ATM
3 Decreased viability GR00221-A-4 10.12 ATM PANK2
4 Decreased viability GR00240-S-1 10.12 ABCB7
5 Decreased viability GR00301-A 10.12 FXN PANK2
6 Decreased viability GR00381-A-1 10.12 FA2H GFAP
7 Decreased viability GR00402-S-2 10.12 ABCB7 ATM ATXN3 ATXN7 CACNA1A CP
8 no effect GR00402-S-1 9.62 ABCB7 ATM ATXN3 ATXN7 CACNA1A CP

MGI Mouse Phenotypes related to Aceruloplasminemia:

46 (show all 11)
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.37 ATM ATXN3 ATXN7 CACNA1A CP DNM1
2 homeostasis/metabolism MP:0005376 10.33 ABCB7 ATM ATXN3 CACNA1A CP DNM1
3 cellular MP:0005384 10.32 ABCB7 ATM CACNA1A CP DNM1 FXN
4 growth/size/body region MP:0005378 10.23 ABCB7 ATM ATXN7 CACNA1A FXN GFAP
5 hematopoietic system MP:0005397 10.13 ATM ATXN3 CACNA1A CP NPC1 PANK2
6 mortality/aging MP:0010768 10.13 ABCB7 ATM ATXN7 CACNA1A DNM1 FXN
7 immune system MP:0005387 10.07 ATM CACNA1A CP FXN GFAP NPC1
8 nervous system MP:0003631 10.06 ABCB7 ATM ATXN3 ATXN7 CACNA1A CP
9 muscle MP:0005369 9.8 ATXN7 CACNA1A FXN GFAP PANK2 PLA2G6
10 reproductive system MP:0005389 9.56 ATM ATXN7 CACNA1A NPC1 PANK2 PLA2G6
11 vision/eye MP:0005391 9.28 ATXN7 CACNA1A CP DNM1 FA2H GFAP

Drugs & Therapeutics for Aceruloplasminemia

Search Clinical Trials , NIH Clinical Center for Aceruloplasminemia

Cell-based therapeutics:


LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database
Read about Aceruloplasminemia cell therapies at LifeMap Discovery.

Cochrane evidence based reviews: cerebellar ataxia

Genetic Tests for Aceruloplasminemia

Genetic tests related to Aceruloplasminemia:

# Genetic test Affiliating Genes
1 Deficiency of Ferroxidase 29 CP
2 Hemosiderosis, Systemic, Due to Aceruloplasminemia 29
3 Hypoceruloplasminemia 29
4 Cerebellar Ataxia 29

Anatomical Context for Aceruloplasminemia

MalaCards organs/tissues related to Aceruloplasminemia:

41
Brain, Retina, Liver, Eye, Testes, Heart, Spinal Cord
LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database

Cells/anatomical compartments in embryo or adult related to Aceruloplasminemia:
# Tissue Anatomical CompartmentCell Relevance
1 Adipose Subcutaneous White Adipose Mesenchymal Stem Cells Potential therapeutic candidate
2 Adipose Subcutaneous White Adipose Stromal Cells Potential therapeutic candidate

Publications for Aceruloplasminemia

Articles related to Aceruloplasminemia:

(show top 50) (show all 1168)
# Title Authors Year
1
Prevalence and phenotype of the c.1529C>T SPG7 variant in adult-onset cerebellar ataxia in Italy. ( 30098094 )
2019
2
Ion channel dysfunction in cerebellar ataxia. ( 29421541 )
2019
3
A novel inborn error of the coenzyme Q10 biosynthesis pathway: cerebellar ataxia and static encephalomyopathy due to COQ5 C-methyltransferase deficiency. ( 29044765 )
2018
4
Identification of specific gait patterns in patients with cerebellar ataxia, spastic paraplegia, and Parkinson's disease: A non-hierarchical cluster analysis. ( 28967438 )
2018
5
Clinical Reasoning: Progressive cognitive decline, cerebellar ataxia, recurrent myoclonus, and epilepsy. ( 29760005 )
2018
6
Cerebellar Ataxia With Neuropathy and Vestibular Areflexia Syndrome Presenting With Neurotrophic Keratopathy. ( 29474200 )
2018
7
Aceruloplasminemia and putaminal cavitation. ( 29534945 )
2018
8
Phenotypic heterogeneity in seven Italian cases of aceruloplasminemia. ( 29503155 )
2018
9
Novel mutations in the ALDH18A1 gene in complicated hereditary spastic paraplegia with cerebellar ataxia and cognitive impairment. ( 29915212 )
2018
10
Acute Cerebellar Ataxia Associated with Anti-glutamic Acid Decarboxylase Antibodies Mimicking Miller Fisher Syndrome. ( 29093402 )
2018
11
A Aceruloplasminemia Patient with Abnormal Compound Heterozygous Mutations Who Developed Neurological Dysfunction during Phlebotomy Therapy: A Case Report. ( 29709961 )
2018
12
Ceruloplasmin replacement therapy ameliorates neurological symptoms in a preclinical model ofA aceruloplasminemia. ( 29183916 )
2018
13
Lambert-Eaton myasthenic syndrome and cerebellar ataxia: Is response to immunotherapy a clue to pathogenesis? ( 29365352 )
2018
14
Pancytopenia and Myelodysplastic Changes in Aceruloplasminemia: A Case with a Novel Pathogenic Variant in the Ceruloplasmin Gene. ( 29434149 )
2018
15
Dual Molecular Effects of Dominant RORA Mutations Cause Two Variants of Syndromic Intellectual Disability with Either Autism or Cerebellar Ataxia. ( 29656859 )
2018
16
PEX10-related autosomal recessive cerebellar ataxia with hearing loss. ( 30022445 )
2018
17
SYNE1-related autosomal recessive cerebellar ataxia, congenital cerebellar hypoplasia, and cognitive impairment. ( 30275942 )
2018
18
Cerebellar ataxia as a first manifestation of Creutzfeldt-Jakob disease in two cousins. ( 29434023 )
2018
19
Homozygous PCDH12 variants result in phenotype of cerebellar ataxia, dystonia, retinopathy, and dysmorphism. ( 30459466 )
2018
20
Myoclonus-dystonia and cerebellar ataxia in association with anti-glutamic acid decarboxylase autoimmunity. ( 30057216 )
2018
21
Steroid-responsive Encephalopathy Associated with Autoimmune Thyroiditis (SREAT) Presenting with Pure Cerebellar Ataxia. ( 30191089 )
2018
22
Immune Mediated Cerebellar Ataxia: An Unknown Manifestation of Graft-versus-Host Disease. ( 30439710 )
2018
23
Diffusion Tensor Imaging in a Case of Pontine Bleeding Showing Hypertrophic Olivary Degeneration and Cerebellar Ataxia. ( 30483105 )
2018
24
Subacute cerebellar ataxia as presenting symptom of systemic lupus erythematosus. ( 30468487 )
2018
25
A SEPSECS mutation in a 23-year-old woman with microcephaly and progressive cerebellar ataxia. ( 29464431 )
2018
26
Novel biomarker for neurodegenerative diseases- motor neuron disease (MND), cerebellar ataxia (CA) and Parkinson's disease (PD). ( 30006282 )
2018
27
Cerebellar ataxia, neuropathy, vestibular areflexia syndrome (CANVAS) with chronic cough and preserved muscle stretch reflexes: evidence for selective sparing of afferent Ia fibres. ( 29696497 )
2018
28
Mutations in XRCC1 cause cerebellar ataxia and peripheral neuropathy. ( 29472272 )
2018
29
A novel KIF5A gene variant causes spastic paraplegia and cerebellar ataxia. ( 30480035 )
2018
30
Dentate nucleus stimulation in a patient with cerebellar ataxia and tremor after cerebellar stroke: A long-term follow-up. ( 30297213 )
2018
31
iPSC Modeling of Presenilin1 Mutation in Alzheimer's Disease with Cerebellar Ataxia. ( 30429645 )
2018
32
Myricetin Reduces Toxic Level of CAG Repeats RNA in Huntington's Disease (HD) and Spino Cerebellar Ataxia (SCAs). ( 29172480 )
2018
33
Selective Patterns of Cognitive Impairment in Spinocerebellar Ataxia Type 6 and Idiopathic Late-Onset Cerebellar Ataxia. ( 28961751 )
2018
34
Cerebellar ataxia with neuropathy and vestibular areflexia syndrome (CANVAS). ( 29089158 )
2018
35
Patients with Cerebellar Ataxia Do Not Benefit from Limb Weights. ( 30069836 )
2018
36
Can pre-screening vestibulocerebellar involvement followed by targeted training improve the outcomes of balance in cerebellar ataxia? ( 30077194 )
2018
37
GDAP2 mutations implicate susceptibility to cellular stress in a new form of cerebellar ataxia. ( 30084953 )
2018
38
Cerebellar Ataxia in Children: A Clinical and MRI Approach to the Differential Diagnosis. ( 30086112 )
2018
39
Quantification of Axial Abnormality Due to Cerebellar Ataxia with Inertial Measurements. ( 30149564 )
2018
40
Disruption of Tmem30a results in cerebellar ataxia and degeneration of Purkinje cells. ( 30185775 )
2018
41
Unusual case of subacute cerebellar ataxia. ( 30233025 )
2018
42
Variant in SCYL1 gene causes aberrant splicing in a family with cerebellar ataxia, recurrent episodes of liver failure, and growth retardation. ( 30258122 )
2018
43
TRIO gene segregation in a family with cerebellar ataxia. ( 30279051 )
2018
44
Cerebellar Ataxia in Children: A Clinical and MRI Approach to the Differential Diagnosis. ( 30289832 )
2018
45
A simple saccadic reading test to assess ocular motor function in cerebellar ataxia. ( 30403759 )
2018
46
Quantitative Assessment of Cerebellar Ataxia With Kinematic Sensing During Rhythmic Tapping. ( 30440581 )
2018
47
Automated Finger Chase (ballistic tracking) in the Assessment of Cerebellar Ataxia. ( 30441138 )
2018
48
Sez6l2-antibody-associated progressive cerebellar ataxia: a differential diagnosis of atypical parkinsonism. ( 30460451 )
2018
49
Intersegmental coordination patterns are differently affected in Parkinson's disease and cerebellar ataxia. ( 30461364 )
2018
50
Cerebellar ataxia. ( 30482319 )
2018

Variations for Aceruloplasminemia

ClinVar genetic disease variations for Aceruloplasminemia:

6 (show top 50) (show all 1120)
# Gene Variation Type Significance SNP ID Assembly Location
1 SYNE1 NM_033071.3(SYNE1): c.25237G> A (p.Glu8413Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs119103248 GRCh37 Chromosome 6, 152461162: 152461162
2 SYNE1 NM_033071.3(SYNE1): c.25237G> A (p.Glu8413Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs119103248 GRCh38 Chromosome 6, 152140027: 152140027
3 NPC1 NM_000271.4(NPC1): c.3019C> G (p.Pro1007Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs80358257 GRCh37 Chromosome 18, 21118528: 21118528
4 NPC1 NM_000271.4(NPC1): c.3019C> G (p.Pro1007Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs80358257 GRCh38 Chromosome 18, 23538564: 23538564
5 MT-ATP6 m.8993T> G single nucleotide variant Pathogenic rs199476133 GRCh37 Chromosome MT, 8993: 8993
6 MT-ATP6 m.8993T> G single nucleotide variant Pathogenic rs199476133 GRCh38 Chromosome MT, 8993: 8993
7 SURF1 NM_003172.3(SURF1): c.845_846delCT (p.Ser282Cysfs) deletion Pathogenic rs782316919 GRCh37 Chromosome 9, 136218825: 136218826
8 SURF1 NM_003172.3(SURF1): c.845_846delCT (p.Ser282Cysfs) deletion Pathogenic rs782316919 GRCh38 Chromosome 9, 133351970: 133351971
9 CP NM_000096.3(CP): c.3019-1G> A single nucleotide variant Pathogenic rs386134142 GRCh37 Chromosome 3, 148894200: 148894200
10 CP NM_000096.3(CP): c.3019-1G> A single nucleotide variant Pathogenic rs386134142 GRCh38 Chromosome 3, 149176413: 149176413
11 CP NM_000096.3(CP): c.2389delG (p.Glu797Argfs) deletion Pathogenic rs386134149 GRCh37 Chromosome 3, 148901289: 148901289
12 CP NM_000096.3(CP): c.2389delG (p.Glu797Argfs) deletion Pathogenic rs386134149 GRCh38 Chromosome 3, 149183502: 149183502
13 CP NM_000096.3(CP): c.1286_1287insTACAC (p.Asp430Thrfs) insertion Pathogenic rs386134145 GRCh37 Chromosome 3, 148919950: 148919951
14 CP NM_000096.3(CP): c.1286_1287insTACAC (p.Asp430Thrfs) insertion Pathogenic rs386134145 GRCh38 Chromosome 3, 149202163: 149202164
15 CP NM_000096.3(CP): c.2630G> A (p.Trp877Ter) single nucleotide variant Pathogenic rs121909579 GRCh37 Chromosome 3, 148897374: 148897374
16 CP NM_000096.3(CP): c.2630G> A (p.Trp877Ter) single nucleotide variant Pathogenic rs121909579 GRCh38 Chromosome 3, 149179587: 149179587
17 CP NM_000096.3(CP): c.606dupA (p.Asp203Argfs) duplication Pathogenic rs386134143 GRCh37 Chromosome 3, 148927955: 148927955
18 CP NM_000096.3(CP): c.606dupA (p.Asp203Argfs) duplication Pathogenic rs386134143 GRCh38 Chromosome 3, 149210168: 149210168
19 MLC1 NM_015166.3(MLC1): c.178-10T> A single nucleotide variant Likely pathogenic rs80358243 GRCh37 Chromosome 22, 50521612: 50521612
20 MLC1 NM_015166.3(MLC1): c.178-10T> A single nucleotide variant Likely pathogenic rs80358243 GRCh38 Chromosome 22, 50083183: 50083183
21 CP NM_000096.3(CP): c.1865-1G> A single nucleotide variant Pathogenic rs386134139 GRCh37 Chromosome 3, 148904520: 148904520
22 CP NM_000096.3(CP): c.1865-1G> A single nucleotide variant Pathogenic rs386134139 GRCh38 Chromosome 3, 149186733: 149186733
23 CP NM_000096.3(CP): c.1918delG (p.Asp640Ilefs) deletion Pathogenic rs386134146 GRCh38 Chromosome 3, 149186679: 149186679
24 CP NM_000096.3(CP): c.2065delC (p.Pro689Leufs) deletion Pathogenic rs386134147 GRCh37 Chromosome 3, 148904319: 148904319
25 CP NM_000096.3(CP): c.146+1G> A single nucleotide variant Pathogenic rs386134134 GRCh38 Chromosome 3, 149221646: 149221646
26 CP NM_000096.3(CP): c.1918delG (p.Asp640Ilefs) deletion Pathogenic rs386134146 GRCh37 Chromosome 3, 148904466: 148904466
27 CP NM_000096.3(CP): c.2675G> A (p.Gly892Glu) single nucleotide variant Pathogenic rs386134131 GRCh38 Chromosome 3, 149178618: 149178618
28 CP NM_000096.3(CP): c.2065delC (p.Pro689Leufs) deletion Pathogenic rs386134147 GRCh38 Chromosome 3, 149186532: 149186532
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.2068delG (p.Asp690Thrfs) deletion Pathogenic rs386134148 GRCh38 Chromosome 3, 149186529: 149186529
31 CP NM_000096.3(CP): c.1049C> A (p.Ala350Asp) single nucleotide variant Pathogenic rs386134127 GRCh37 Chromosome 3, 148924114: 148924114
32 CP NM_000096.3(CP): c.1049C> A (p.Ala350Asp) single nucleotide variant Pathogenic rs386134127 GRCh38 Chromosome 3, 149206327: 149206327
33 CP NM_000096.3(CP): c.229G> C (p.Asp77His) single nucleotide variant Pathogenic rs200683433 GRCh37 Chromosome 3, 148930403: 148930403
34 CP NM_000096.3(CP): c.229G> C (p.Asp77His) single nucleotide variant Pathogenic rs200683433 GRCh38 Chromosome 3, 149212616: 149212616
35 CP NM_000096.3(CP): c.650T> C (p.Phe217Ser) single nucleotide variant Pathogenic rs386134125 GRCh37 Chromosome 3, 148927129: 148927129
36 CP NM_000096.3(CP): c.650T> C (p.Phe217Ser) single nucleotide variant Pathogenic rs386134125 GRCh38 Chromosome 3, 149209342: 149209342
37 CP NM_000096.3(CP): c.1874G> A (p.Gly625Glu) single nucleotide variant Pathogenic rs386134129 GRCh37 Chromosome 3, 148904510: 148904510
38 CP NM_000096.3(CP): c.1874G> A (p.Gly625Glu) single nucleotide variant Pathogenic rs386134129 GRCh38 Chromosome 3, 149186723: 149186723
39 CP NM_000096.3(CP): c.2675G> A (p.Gly892Glu) single nucleotide variant Pathogenic rs386134131 GRCh37 Chromosome 3, 148896405: 148896405
40 CP NM_000096.3(CP): c.2684G> C (p.Gly895Ala) single nucleotide variant Uncertain significance rs139633388 GRCh37 Chromosome 3, 148896396: 148896396
41 CP NM_000096.3(CP): c.2684G> C (p.Gly895Ala) single nucleotide variant Uncertain significance rs139633388 GRCh38 Chromosome 3, 149178609: 149178609
42 CP NM_000096.3(CP): c.2962G> A (p.Gly988Ser) single nucleotide variant Pathogenic rs386134133 GRCh37 Chromosome 3, 148895683: 148895683
43 CP NM_000096.3(CP): c.2962G> A (p.Gly988Ser) single nucleotide variant Pathogenic rs386134133 GRCh38 Chromosome 3, 149177896: 149177896
44 CP NM_000096.3(CP): c.548T> C (p.Ile183Thr) single nucleotide variant Pathogenic rs386134123 GRCh37 Chromosome 3, 148928013: 148928013
45 CP NM_000096.3(CP): c.548T> C (p.Ile183Thr) single nucleotide variant Pathogenic rs386134123 GRCh38 Chromosome 3, 149210226: 149210226
46 CP NM_000096.3(CP): c.82A> T (p.Ile28Phe) single nucleotide variant Pathogenic rs386134121 GRCh37 Chromosome 3, 148939498: 148939498
47 CP NM_000096.3(CP): c.82A> T (p.Ile28Phe) single nucleotide variant Pathogenic rs386134121 GRCh38 Chromosome 3, 149221711: 149221711
48 CP NM_000096.3(CP): c.2953A> G (p.Met985Val) single nucleotide variant Pathogenic rs386134132 GRCh37 Chromosome 3, 148895692: 148895692
49 CP NM_000096.3(CP): c.2953A> G (p.Met985Val) single nucleotide variant Pathogenic rs386134132 GRCh38 Chromosome 3, 149177905: 149177905
50 CP NM_000096.3(CP): c.146+1G> A single nucleotide variant Pathogenic rs386134134 GRCh37 Chromosome 3, 148939433: 148939433

Copy number variations for Aceruloplasminemia from CNVD:

7
# CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 175895 3 4510033 4864286 Deletion ITPR1 Cerebellar ataxia
2 206750 6 146390474 146800424 Insertion GRM1 Cerebellar ataxia

Expression for Aceruloplasminemia

Search GEO for disease gene expression data for Aceruloplasminemia.

Pathways for Aceruloplasminemia

Pathways related to Aceruloplasminemia according to KEGG:

37
# Name Kegg Source Accession
1 Ferroptosis hsa04216
2 Porphyrin and chlorophyll metabolism hsa00860

GO Terms for Aceruloplasminemia

Cellular components related to Aceruloplasminemia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mitochondrion GO:0005739 9.17 ABCB7 FXN PANK2 PLA2G6 PPP2R2B PTRH2

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

# Name GO ID Score Top Affiliating Genes
1 aerobic respiration GO:0009060 9.33 FXN PANK2 SURF1
2 oxidative phosphorylation GO:0006119 9.32 FXN SURF1
3 response to amyloid-beta GO:1904645 9.26 CACNA1A DNM1
4 adult walking behavior GO:0007628 9.13 CACNA1A FXN NPC1
5 cellular iron ion homeostasis GO:0006879 8.92 ABCB7 CP FTL FXN

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

# Name GO ID Score Top Affiliating Genes
1 ferrous iron binding GO:0008198 9.16 FTL FXN
2 ferric iron binding GO:0008199 8.96 FTL FXN
3 ferroxidase activity GO:0004322 8.8 CP FTL FXN

Sources for Aceruloplasminemia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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