ACERULOP
MCID: ACR006
MIFTS: 63

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 73 25 20 43 58 72 36 15 37 39
Hypoceruloplasminemia 20 43 29 6
Cerebellar Ataxia 57 29 13 6
Hemosiderosis, Systemic, Due to Aceruloplasminemia 57 29 6
Familial Apoceruloplasmin Deficiency 20 43 70
Hereditary Ceruloplasmin Deficiency 20 43 58
Deficiency of Ferroxidase 43 29 6
Systemic Hemosiderosis Due to Aceruloplasminemia 20 43
Ceruloplasmin Deficiency 20 70
Hypoceruloplasminemia, Hereditary 57
Acerulop 72

Characteristics:

Orphanet epidemiological data:

58
aceruloplasminemia
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Japan),<1/1000000 (Worldwide); Age of onset: Adult; Age of death: elderly;

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

Miscellaneous:
onset between age 30-50 years


HPO:

31
aceruloplasminemia:
Inheritance autosomal recessive inheritance
Onset and clinical course adult onset


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare eye diseases
Inborn errors of metabolism
Rare haematological diseases


Summaries for Aceruloplasminemia

MedlinePlus Genetics : 43 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.People with aceruloplasminemia develop a variety of movement problems. They may experience involuntary muscle contractions (dystonia) of the head and neck, resulting in repetitive movements and contortions. Other involuntary movements may also occur, such as rhythmic shaking (tremors), jerking movements (chorea), eyelid twitching (blepharospasm), and grimacing. Affected individuals may also have difficulty with coordination (ataxia). Some develop psychiatric problems and a decline of intellectual function (dementia) in their forties or fifties.In addition to neurological problems, affected individuals may have diabetes mellitus caused by iron damage to cells in the pancreas that make insulin, a hormone that helps control blood sugar levels. Iron accumulation in the pancreas reduces the cells' ability to make insulin, which impairs blood sugar regulation and leads to the signs and symptoms of diabetes.Iron accumulation in the tissues and organs results in a corresponding shortage (deficiency) of iron in the blood, leading to a shortage of red blood cells (anemia). Anemia and diabetes usually occur by the time an affected person is in his or her twenties.Affected individuals also have changes in the light-sensitive tissue at the back of the eye (retina) caused by excess iron. The changes result in small opaque spots and areas of tissue degeneration (atrophy) around the edges of the retina. These abnormalities usually do not affect vision but can be observed during an eye examination.The specific features of aceruloplasminemia and their severity may vary, even within the same family.

MalaCards based summary : Aceruloplasminemia, also known as hypoceruloplasminemia, is related to spinocerebellar ataxia, autosomal recessive 8 and ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia, 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. The drugs Polyestradiol phosphate and Estradiol have been mentioned in the context of this disorder. Affiliated tissues include Adipose, and related phenotypes are abnormal enzyme/coenzyme activity and hypochromic microcytic anemia

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.

GARD : 20 Aceruloplasminemia causes a build-up of iron in the brain and the organs of the body. Signs and symptoms begin in adulthood. People with aceruloplasminemia develop anemia, diabetes, and eye problems. Over time, difficulty controlling movements may occur. These include tremors, chorea, ataxia, eyelid twitching, and grimacing. Some experience psychiatric problems and dementia in their 40's and 50's. An eye examination may reveal changes in the retina, but these changes typically do not affect vision. Aceruloplasminemia is caused by genetic changes in the CP gene and is inherited in an autosomal recessive pattern. Diagnosis is based on the symptoms, imaging studies and may be confirmed by the results of genetic testing. Treatment is focused on managing the symptoms through medications that absorb excess iron.

KEGG : 36 Aceruloplasminemia is an autosomal recessive disorder associated with severe iron deposition in visceral organ and brain tissues. The clinical symptoms are progressive dementia, extrapyramidal disorders, cerebellar ataxia, and diabetes mellitus. The symptoms appear when patients are between 30 and 50 years old. Patients have serum ceruloplasmin deficiencies and increased serum ferritin concentrations. The genetic defects in the ceruloplasmin gene has been identified in the patients.

UniProtKB/Swiss-Prot : 72 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 : 73 Aceruloplasminemia is a rare autosomal recessive disorder in which the liver can not synthesis the... more...

More information 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 958)
# Related Disease Score Top Affiliating Genes
1 spinocerebellar ataxia, autosomal recessive 8 33.4 SETX CACNA1A AFG3L2
2 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia 33.4 SETX CACNA1A ATM
3 autosomal recessive cerebellar ataxia 33.1 SETX CACNA1A ATM
4 spinocerebellar ataxia, autosomal recessive 14 33.0 CACNA1A AFG3L2
5 kearns-sayre syndrome 32.6 SURF1 MT-ATP6 CACNA1A AFG3L2
6 dentatorubral-pallidoluysian atrophy 32.5 SETX CACNA1A AFG3L2
7 spastic ataxia 2, autosomal recessive 32.4 KIF1C INCA1
8 spastic ataxia 32.2 SETX KIF1C INCA1 HARS1 CACNA1A AFG3L2
9 spinocerebellar ataxia 30 32.2 CACNA1A AFG3L2
10 spinocerebellar ataxia type 1 with axonal neuropathy 32.0 SETX ATM
11 neurodegeneration with brain iron accumulation 3 31.8 PLA2G6 CP
12 hereditary ataxia 31.7 SETX KCNJ10 CACNA1A ATM AFG3L2
13 cerebellar degeneration 31.6 CACNA1A ATM
14 cerebellar disease 31.6 SETX CP CACNA1A ATM AFG3L2
15 apraxia 31.5 SETX CEP104 ATM
16 3-methylglutaconic aciduria, type iii 31.4 SURF1 MT-ATP6 KIF1C AFG3L2
17 oculomotor apraxia 31.3 SETX HARS1 CEP104 ATM
18 alacrima, achalasia, and mental retardation syndrome 31.3 PMM2 LOC101927078 KIF1C KCNN2 INCA1 HARS1
19 ocular motor apraxia 31.3 HARS1 ATM
20 hereditary spastic paraplegia 31.3 SETX PLA2G6 MT-ATP6 KIF1C INCA1 AFG3L2
21 episodic ataxia 31.2 MT-ATP6 CACNA1A AFG3L2
22 sensorineural hearing loss 31.1 MT-ATP6 KCNJ10 HARS1 CP AFG3L2
23 spastic paraparesis 31.1 KIF1C CACNA1A AFG3L2
24 spastic paraplegia 7, autosomal recessive 31.0 SETX AFG3L2
25 choreatic disease 31.0 SETX CP CACNA1A AFG3L2
26 mitochondrial encephalomyopathy 30.9 SURF1 MT-ATP6 CP COQ4
27 chronic progressive external ophthalmoplegia 30.8 SURF1 MT-ATP6 AFG3L2
28 movement disease 30.8 PLA2G6 CP CACNA1A
29 dystonia 30.8 SETX PLA2G6 NPC1 KIF1C CP CEP104
30 mitochondrial disorders 30.6 SURF1 MT-TE MT-ATP6 COQ4
31 seizure disorder 30.5 LOC101927078 KCNN2 C11orf65 ATM
32 early myoclonic encephalopathy 30.4 MT-ATP6 CACNA1A AFG3L2
33 cerebellar ataxia, deafness, and narcolepsy, autosomal dominant 11.8
34 cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1 11.8
35 gillespie syndrome 11.8
36 gordon holmes syndrome 11.7
37 cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss 11.7
38 cerebellar ataxia, nonprogressive, with mental retardation 11.7
39 cerebellar ataxia, cayman type 11.7
40 cerebellar ataxia, mental retardation, and dysequilibrium syndrome 3 11.7
41 cerebellar ataxia, neuropathy, and vestibular areflexia syndrome 11.7
42 cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2 11.7
43 autosomal dominant cerebellar ataxia 11.6
44 cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4 11.6
45 short-rib thoracic dysplasia 9 with or without polydactyly 11.6
46 spinocerebellar ataxia 7 11.6
47 cerebellar ataxia and ectodermal dysplasia 11.6
48 cerebellar ataxia, early-onset, with retained tendon reflexes 11.6
49 cognitive impairment with or without cerebellar ataxia 11.6
50 brachydactyly-nystagmus-cerebellar ataxia 11.6

Graphical network of the top 20 diseases related to Aceruloplasminemia:



Diseases related to Aceruloplasminemia

Symptoms & Phenotypes for Aceruloplasminemia

Human phenotypes related to Aceruloplasminemia:

58 31 (show all 48)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormal enzyme/coenzyme activity 58 31 hallmark (90%) Very frequent (99-80%) HP:0012379
2 hypochromic microcytic anemia 58 31 hallmark (90%) Very frequent (99-80%) HP:0004840
3 refractory anemia 58 31 hallmark (90%) Very frequent (99-80%) HP:0005505
4 aceruloplasminemia 58 31 hallmark (90%) Very frequent (99-80%) HP:0025498
5 increased circulating ferritin concentration 31 hallmark (90%) HP:0003281
6 dysarthria 58 31 frequent (33%) Frequent (79-30%) HP:0001260
7 diabetes mellitus 58 31 frequent (33%) Frequent (79-30%) HP:0000819
8 chorea 58 31 frequent (33%) Frequent (79-30%) HP:0002072
9 abnormality of retinal pigmentation 58 31 frequent (33%) Frequent (79-30%) HP:0007703
10 gait ataxia 58 31 frequent (33%) Frequent (79-30%) HP:0002066
11 macular degeneration 58 31 frequent (33%) Frequent (79-30%) HP:0000608
12 decreased circulating copper concentration 58 31 frequent (33%) Frequent (79-30%) HP:0011967
13 limb ataxia 58 31 frequent (33%) Frequent (79-30%) HP:0002070
14 elevated hepatic iron concentration 58 31 frequent (33%) Frequent (79-30%) HP:0012465
15 decreased serum iron 58 31 frequent (33%) Frequent (79-30%) HP:0040303
16 decreased circulating ceruloplasmin concentration 31 frequent (33%) HP:0010837
17 nystagmus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000639
18 tremor 58 31 occasional (7.5%) Occasional (29-5%) HP:0001337
19 congestive heart failure 58 31 occasional (7.5%) Occasional (29-5%) HP:0001635
20 memory impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0002354
21 blepharospasm 58 31 occasional (7.5%) Occasional (29-5%) HP:0000643
22 abnormal pancreas morphology 58 31 occasional (7.5%) Occasional (29-5%) HP:0012090
23 torticollis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000473
24 rigidity 58 31 occasional (7.5%) Occasional (29-5%) HP:0002063
25 iron accumulation in brain 58 31 occasional (7.5%) Occasional (29-5%) HP:0012675
26 apathy 58 31 occasional (7.5%) Occasional (29-5%) HP:0000741
27 akinesia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002304
28 facial grimacing 58 31 occasional (7.5%) Occasional (29-5%) HP:0000273
29 parkinsonism 58 31 occasional (7.5%) Occasional (29-5%) HP:0001300
30 abnormal corpus striatum morphology 58 31 occasional (7.5%) Occasional (29-5%) HP:0010994
31 abnormal thalamic mri signal intensity 58 31 occasional (7.5%) Occasional (29-5%) HP:0012696
32 abnormality of the dentate nucleus 58 31 occasional (7.5%) Occasional (29-5%) HP:0100321
33 ataxia 58 31 Frequent (79-30%) HP:0001251
34 retinal degeneration 58 31 Frequent (79-30%) HP:0000546
35 cognitive impairment 58 Frequent (79-30%)
36 anemia 31 HP:0001903
37 hepatic fibrosis 58 Excluded (0%)
38 cirrhosis 58 Excluded (0%)
39 abnormality of extrapyramidal motor function 31 HP:0002071
40 involuntary movements 58 Frequent (79-30%)
41 dystonia 58 Frequent (79-30%)
42 abnormality of the nervous system 58 Very frequent (99-80%)
43 scanning speech 31 HP:0002168
44 increased serum ferritin 58 Very frequent (99-80%)
45 dementia 31 HP:0000726
46 cogwheel rigidity 31 HP:0002396
47 decreased serum ceruloplasmin 58 Frequent (79-30%)
48 craniofacial dystonia 58 Occasional (29-5%)

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neurologic Central Nervous System:
ataxia
dysarthria
chorea
torticollis
scanning speech
more
Head And Neck Eyes:
blepharospasm
retinal degeneration

Hematology:
mild anemia

Endocrine Features:
diabetes mellitus

Laboratory Abnormalities:
increased serum ferritin
decreased serum iron
iron deposition in basal ganglia, liver, pancreas, visceral organs detectable by ct and mri
decreased or absent serum ceruloplasmin

Clinical features from OMIM®:

604290 (Updated 20-May-2021)

UMLS symptoms related to Aceruloplasminemia:


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

MGI Mouse Phenotypes related to Aceruloplasminemia:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 immune system MP:0005387 9.36 AFG3L2 ATM CACNA1A CP INCA1 KCNJ10

Drugs & Therapeutics for Aceruloplasminemia

Drugs for Aceruloplasminemia (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 192)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Polyestradiol phosphate Approved Phase 4 28014-46-2
2
Estradiol Approved, Investigational, Vet_approved Phase 4 50-28-2 5757
3
Clonidine Approved Phase 4 4205-90-7 2803
4
Citalopram Approved Phase 4 59729-33-8 2771
5
Dopamine Approved Phase 4 51-61-6, 62-31-7 681
6
Bupropion Approved Phase 4 34911-55-2, 34841-39-9 444
7
Metformin Approved Phase 4 657-24-9 14219 4091
8
Pioglitazone Approved, Investigational Phase 4 111025-46-8 4829
9
Amantadine Approved Phase 4 768-94-5 2130
10
Vitamin D Approved, Nutraceutical, Vet_approved Phase 4 1406-16-2
11
Calcitriol Approved, Nutraceutical Phase 4 32222-06-3 134070 5280453
12
Dexetimide Withdrawn Phase 4 21888-98-2
13 Adrenergic alpha-Agonists Phase 4
14 Adrenergic Agonists Phase 4
15 Mitogens Phase 4
16 Estradiol 3-benzoate Phase 4
17 Contraceptive Agents Phase 4
18 Estradiol 17 beta-cypionate Phase 4
19 insulin Phase 4
20 Estrogens Phase 4
21 Adrenergic Agents Phase 4
22 Insulin, Globin Zinc Phase 4
23 Sympatholytics Phase 4
24 Neurotransmitter Agents Phase 4
25 Psychotropic Drugs Phase 4
26 Dopamine Agents Phase 4
27 Cholinergic Antagonists Phase 4
28 Parasympatholytics Phase 4
29 Dopamine Uptake Inhibitors Phase 4
30 Serotonin Uptake Inhibitors Phase 4
31 Muscarinic Antagonists Phase 4
32 Antiparkinson Agents Phase 4
33 Antidepressive Agents Phase 4
34 Cytochrome P-450 Enzyme Inhibitors Phase 4
35 Anti-Infective Agents Phase 4
36 Antiviral Agents Phase 4
37 Hypoglycemic Agents Phase 4
38 Calcium, Dietary Phase 4
39 Hormones Phase 4
40 Trace Elements Phase 4
41 Nutrients Phase 4
42 Micronutrients Phase 4
43 Vitamins Phase 4
44 Vasoconstrictor Agents Phase 4
45 Calciferol Phase 4
46
Arginine Investigational, Nutraceutical Phase 4 74-79-3 6322
47
Serotonin Investigational, Nutraceutical Phase 4 50-67-9 5202
48
Calcium Nutraceutical Phase 4 7440-70-2 271
49
Riluzole Approved, Investigational Phase 2, Phase 3 1744-22-5 5070
50
Idebenone Approved, Investigational Phase 3 58186-27-9

Interventional clinical trials:

(show top 50) (show all 171)
# Name Status NCT ID Phase Drugs
1 Status of the Growth Hormone/ Insulin-like Growth Factor-1 (GH/IGF-1) Axis in Relation to Growth Failure, Body Weight and Neuroprotection in Children With Ataxia Telangiectasia Unknown status NCT01052623 Phase 4 Somatropin, Clonidine, L-Arginin-Hydrochloride, Estradiol valerate
2 An Objective Double-blind Evaluation of Bupropion and Citalopram in an Individual With Friedreich Ataxia Completed NCT01716221 Phase 4 bupropion & Citalopram;Bupropion & Placebo;Placebo & Citalopram;Placebo & Placebo
3 Response of Individuals With Ataxia-Telangiectasia to Metformin and Pioglitazone Completed NCT02733679 Phase 4 Metformin;Pioglitazone
4 The Effect of Amantadine on Movement Disorder in Ataxia-Telangiectasia Completed NCT00950196 Phase 4 amantadine sulphate
5 Pilot Trial About the Effects of Calcitriol's Treatment in the Neurological Function and Frataxin's Level in Friedreich's Ataxia Patients Not yet recruiting NCT04801303 Phase 4 Calcitriol
6 Multicenter, Randomized, Double Blind, Placebo Controlled Clinical Trial With Riluzole in Spinocerebellar Ataxia Type 2 Unknown status NCT03347344 Phase 3 Riluzole;Placebo
7 Efficacy of Riluzole in Hereditary Cerebellar Ataxia: a Randomized Double-blind Placebo-controlled Trial. Completed NCT01104649 Phase 2, Phase 3 riluzole;Placebo comparator
8 A Phase III Double-blind, Randomised, Placebo-controlled Study of the Efficacy, Safety and Tolerability of Idebenone in the Treatment of Friedreich's Ataxia Patients Completed NCT00905268 Phase 3 idebenone;Placebo
9 Multicenter, Safety and Efficacy, Open-Label Extension Study of ACTIMMUNE® (Interferon γ-1b) in Children and Young Adults With Friedreich's Ataxia Completed NCT02593773 Phase 3 Interferon γ-1b
10 A Phase IIIb Double-Blind, Randomised, Placebo-Controlled Study of Patient Reported Outcomes in Friedreich's Ataxia Patients After Withdrawal From Treatment With Idebenone Completed NCT01303406 Phase 3 Idebenone;Placebo
11 Randomized, Multicenter, Double-Blind, Placebo-Controlled, Efficacy, Safety, and Pharmacokinetic Study of ACTIMMUNE® (Interferon γ-1b) in Children and Young Adults With Friedreich's Ataxia Completed NCT02415127 Phase 3 Interferon γ-1b;Placebo
12 Conjugate Pneumococcal Vaccine in Ataxia Telangiectasia (AT) Completed NCT00656409 Phase 3 Conjugated pneumococcal vaccine (Prevenar)
13 Effect of Pioglitazone Administered to Patients With Friedreich's ATAXIA:Proof of Concept Completed NCT00811681 Phase 3 pioglitazone;Placebo
14 A Phase III Open-Label, Single-Group, Extension Study to Obtain Long-Term Safety and Tolerability Data of Idebenone in the Treatment of Friedreich's Ataxia Patients. Completed NCT00993967 Phase 3 idebenone
15 Long-Term Safety Extension Study of ACTIMMUNE® (Interferon γ-1b) in Children and Young Adults With Friedreich's Ataxia Completed NCT02797080 Phase 3 interferon γ-1b
16 A Phase III Open-Label, Single Group Extension Study of the Safety and Tolerability of Idebenone in the Treatment of Friedreich's Ataxia Patients Completed NCT00697073 Phase 3 Idebenone
17 A Phase III Double-Blind, Randomized, Placebo-Controlled Study of the Efficacy, Safety and Tolerability of Idebenone in the Treatment of Friedreich's Ataxia Patients Completed NCT00537680 Phase 3 Idebenone;Idebenone;Placebo
18 Randomized Clinical Trial to Assess the Safety and Efficacy of Lithium Carbonate in Patients With Spinocerebellar Ataxia Type 3 Completed NCT01096082 Phase 2, Phase 3 Lithium Carbonate;Placebo
19 Open-label, Long-term, Extension Treatment Using Intra-Erythrocyte Dexamethasone Sodium Phosphate in Patients With Ataxia Telangiectasia Who Participated in the IEDAT-02-2015 Study Recruiting NCT03563053 Phase 3
20 Gut Microbiota Alteration and Improvement of Ataxia in Patients of Multiple System Atrophy Treating With Tllsh2910 - a Randomized, Placebo-controlled, Double-blinded, Cross-over, Single-center Clinical Trial Recruiting NCT03901638 Phase 3 Tllsh2910;Placebo
21 A Randomized, Parallel-Arm, Double-Blind, Placebo-Controlled Study With Open-Label Extension to Assess the Efficacy and Safety of Vatiquinone for the Treatment of Friedreich Ataxia (MOVE-FA) Recruiting NCT04577352 Phase 2, Phase 3 Vatiquinone;Placebo
22 An Open Pilot Trial of BHV-4157 in Adult Subjects With Cerebellar Ataxia Active, not recruiting NCT03408080 Phase 3 BHV-4157
23 A Phase III, Long-Term, Randomized, Double-blind, Placebo-controlled Trial of Troriluzole in Adult Subjects With Spinocerebellar Ataxia. Active, not recruiting NCT03701399 Phase 3 troriluzole;Placebos
24 A Randomized, Double-Blind, Controlled, Phase 2/3 Study to Assess Efficacy, Long Term Safety and Tolerability of RT001 in Subjects With Friedreich's Ataxia Active, not recruiting NCT04102501 Phase 3 RT001;Placebo
25 A Phase IIb/III, Randomized, Double-blind, Placebo-controlled Trial of Troriluzole in Adult Subjects With Spinocerebellar Ataxia Active, not recruiting NCT02960893 Phase 2, Phase 3 Troriluzole;Placebo;Troriluzole
26 Pilot Study of Varenicline (Chantix®) in the Treatment of Friedreich's Ataxia Terminated NCT00803868 Phase 2, Phase 3 varenicline;placebo
27 Clinical Study to Evaluate the Safety and Efficacy of Bone Marrow Derived Mono Nuclear Stem Cell (BMMNCs) in Cerebellar Ataxia .It is Self Funded (Patients' Own Funding) Clinical Trial Unknown status NCT01958177 Phase 1, Phase 2
28 The Safety and Efficacy of Umbilical Cord Mesenchymal Stem Cells Transplantation in Hereditary Cerebellar Ataxia Patients Unknown status NCT01489267 Phase 2
29 A Phase II, Randomized, Double-Blind, Placebo-Controlled, Single-Center Study to Evaluate the Safety and Efficacy of Stemchymal® Infusion for the Treatment of Polyglutamine Spinocerebellar Ataxia Unknown status NCT02540655 Phase 2
30 Effect of Nilotinib in Cerebellar Ataxia Patients Unknown status NCT03932669 Phase 2 Nilotinib
31 Phase I/II Study of Umbilical Cord Mesenchymal Stem Cell Therapy for Patients With Hereditary Ataxia Unknown status NCT01360164 Phase 1, Phase 2
32 Effects of Nicotinamide Riboside (Vitamin B3) in Patients With Ataxia Telangiectasia. Unknown status NCT03962114 Phase 2
33 Phase 2 Study of Riluzole Effects on Patients With Chronic Cerebellar Ataxia Completed NCT00202397 Phase 2 Riluzole
34 Treatment of Cerebellar Ataxia With Mesenchymal Stem Cells Completed NCT01649687 Phase 1, Phase 2
35 Treatment of Fragile-X Associated Tremor/Ataxia Syndrome (FXTAS) With Allopregnanolone Completed NCT02603926 Phase 2 Allopregnanolone
36 An Open Label Clinical Pilot Study of Resveratrol as Treatment for Friedreich Ataxia Completed NCT01339884 Phase 1, Phase 2 Resveratrol
37 Safety and Efficacy Study of EPI-743 on Visual Function in Patients With Friedreich's Ataxia Completed NCT01728064 Phase 2 Placebo;EPI-743 400 mg;EPI-743 200 mg
38 Randomised, Double Blind, Placebo Controlled Study of Lu AA24493 in Patients With Friedreich's Ataxia to Evaluate Safety and Tolerability and to Explore Efficacy Completed NCT01016366 Phase 2 Lu AA24493;Placebo
39 Randomized, Placebo-controlled Trial to Test Safety, Tolerability and Efficacy of Lithium Carbonate in Spinocerebellar Ataxia 2 Completed NCT00998634 Phase 2 LITHIUM CARBONATE
40 A Randomized, Double-blind, Controlled Study to Assess the Safety, Tolerability, and Pharmacokinetics of RT001 in Patients With Friedreich's Ataxia Completed NCT02445794 Phase 1, Phase 2 Low dose cohort;High dose cohort
41 A Phase 2a, Double-Blind, Randomized, Placebo-Controlled, 28 Day, Three-arm, Parallel Group Study of A0001 in the Treatment of Subjects With Friedreich's Ataxia Completed NCT01035671 Phase 2 alpha-tocopherolquinone (A0001);alpha-tocopherolquinone (A0001);placebo
42 Single-Center, Open-Label, Sequential Trial to Test the Efficacy, Safety and Tolerability of Epoetin Alfa in Patients With Friedreich's Ataxia Completed NCT00631202 Phase 2 Epoetin alfa
43 Efficacy of EGb761 120mg Bid Versus Placebo in Patients Suffering From Friedreich Ataxia. A 3 Month, Phase II, Randomised, Double Blind, Placebo Controlled, Parallel Group Clinical Study. Completed NCT00824512 Phase 2 EGb 761 120 mg;Placebo
44 A Phase II, Open Label Prospective Single Center Drug Study Evaluating the Safety and Efficacy of (+)-Epicatechin in Subjects With Friedreich's Ataxia Completed NCT02660112 Phase 2 (+)-Epicatechin
45 Safety and Efficacy of Intravenous Immune Globulin in Treating Spinocerebellar Ataxia Completed NCT01350440 Phase 2
46 A Six-month Double-blind, Randomized, Placebo-controlled Study Investigating the Safety and Tolerability of Deferiprone in Patients With Friedreich's Ataxia Completed NCT00530127 Phase 1, Phase 2 placebo;deferiprone;deferiprone;placebo;deferiprone
47 An Open-label, Single Treatment, Safety and Efficacy, Long-term Study of Deferiprone in Subjects With Friedreich's Ataxia Completed NCT00897221 Phase 2 Deferiprone oral solution 100mg/mL;Deferiprone oral solution 100 mg/mL
48 A Pilot, Randomized, Double-blind, Placebo-controlled Phase I Study to Determine the Safety and Tolerability of Varenicline (Chantix®) in Treating Spinocerebellar Ataxia Type 3 Completed NCT00992771 Phase 2 varenicline;placebo
49 A Six Month Double-Blind, Placebo-Controlled Phase 2 Clinical Trial to Determine the Safety and Efficacy of Idebenone Administered to Patients With Friedreich's Ataxia Completed NCT00229632 Phase 2 Idebenone
50 Effect of Iron-Chelating Therapy in Friedreich Ataxia. Study Phase I/II Completed NCT00224640 Phase 1, Phase 2 Iron chelating intervention

Search 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.

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:

40
Eye, Retina, Brain, Pancreas, Liver, Spinal Cord, Cerebellum
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 269)
# Title Authors PMID Year
1
A mutation in the ceruloplasmin gene is associated with systemic hemosiderosis in humans. 25 57 6 61
7539672 1995
2
Familial apoceruloplasmin deficiency associated with blepharospasm and retinal degeneration. 25 61 6 57
3574673 1987
3
Hereditary ceruloplasmin deficiency with hemosiderosis. 61 6 57
8641692 1996
4
Characterization of a nonsense mutation in the ceruloplasmin gene resulting in diabetes and neurodegenerative disease. 61 6 57
8789443 1996
5
Aceruloplasminemia: molecular characterization of this disorder of iron metabolism. 61 57 6
7708681 1995
6
[A case of ceruloplasmin deficiency which showed dementia, ataxia and iron deposition in the brain]. 61 57 6
1458725 1992
7
Molecular and pathological basis of aceruloplasminemia. 61 25 6
16629161 2006
8
Use of desferrioxamine in the treatment of aceruloplasminemia. 25 61 57
9066364 1997
9
Hereditary caeruloplasmin deficiency, dementia and diabetes mellitus. 57 6
7820540 1994
10
Gene deletions causing human genetic disease: mechanisms of mutagenesis and the role of the local DNA sequence environment. 57 6
2016084 1991
11
Iron metabolism in copper-deficient swine. 57 6
5675426 1968
12
The possible significance of the ferrous oxidase activity of ceruloplasmin in normal human serum. 6 57
5912351 1966
13
Iron chelation therapy in aceruloplasminaemia: study of a patient with a novel missense mutation. 25 6
15082597 2004
14
New insights in the neurological phenotype of aceruloplasminemia in Caucasian patients. 6 61
28012953 2017
15
Does aceruloplasminemia modulate iron phenotype in thalassemia intermedia? 6 61
26777753 2016
16
Movement disorders and brain iron overload in a new subtype of aceruloplasminemia. 61 6
25864092 2015
17
Dominant mutants of ceruloplasmin impair the copper loading machinery in aceruloplasminemia. 61 6
19095659 2009
18
Hepatic iron overload associated with a decreased serum ceruloplasmin level in a novel clinical type of aceruloplasminemia. 6 61
16831606 2006
19
Disruption of ceruloplasmin and hephaestin in mice causes retinal iron overload and retinal degeneration with features of age-related macular degeneration. 57 61
15365174 2004
20
Mechanisms of copper incorporation into human ceruloplasmin. 61 6
12351628 2002
21
Cerebellar ataxia associated with heteroallelic ceruloplasmin gene mutation. 61 6
11756598 2001
22
Recent advances in disorders of iron metabolism: mutations, mechanisms and modifiers. 61 57
11673399 2001
23
Hereditary hypoceruloplasminemia. 57 61
436329 1979
24
ATPase Domain AFG3L2 Mutations Alter OPA1 Processing and Cause Optic Neuropathy. 6
32219868 2020
25
Whole-genome sequencing of patients with rare diseases in a national health system. 6
32581362 2020
26
Homozygous PCDH12 variants result in phenotype of cerebellar ataxia, dystonia, retinopathy, and dysmorphism. 6
30459466 2019
27
Phenotypic heterogeneity in seven Italian cases of aceruloplasminemia. 25 61
29503155 2018
28
Molecular diagnostic experience of whole-exome sequencing in adult patients. 6
26633545 2016
29
Aceruloplasminemia. 61 25
22515740 2012
30
Desferrioxamine treatment of aceruloplasminemia: Long-term follow-up. 25 61
21594898 2011
31
Hepatic but not brain iron is rapidly chelated by deferasirox in aceruloplasminemia due to a novel gene mutation. 25 61
20801540 2010
32
Treatment of symptomatic heterozygous aceruloplasminemia with oral zinc sulphate. 25 61
17307325 2007
33
Novel mutation in the ceruloplasmin gene causing a cognitive and movement disorder with diabetes mellitus. 61 25
17013908 2006
34
Iron overload and antioxidative role of perivascular astrocytes in aceruloplasminemia. 61 25
16599945 2006
35
Biochemical features of ceruloplasmin gene mutations linked to aceruloplasminemia. 61 25
16775387 2006
36
Aceruloplasminemia in an asymptomatic patient with a new mutation. Diagnosis and family genetic analysis. 25 61
15885371 2005
37
Aceruloplasminemia, an iron metabolic disorder. 61 25
14719552 2003
38
Aceruloplasminemia with juvenile-onset diabetes mellitus caused by exon skipping in the ceruloplasmin gene. 61 25
12879954 2003
39
Aceruloplasminemia, an inherited disorder of iron metabolism. 25 61
12572680 2003
40
Astrocytic deformity and globular structures are characteristic of the brains of patients with aceruloplasminemia. 25 61
12484569 2002
41
Anemia and iron overload due to compound heterozygosity for novel ceruloplasmin mutations. 61 25
12200392 2002
42
Aceruloplasminemia: new clinical, pathophysiological and therapeutic insights. 25 61
12044538 2002
43
A case of aceruloplasminaemia: abnormal serum ceruloplasmin protein without ferroxidase activity. 6
11909923 2002
44
Biochemical analysis of a missense mutation in aceruloplasminemia. 61 25
11689569 2002
45
Aceruloplasminemia with a novel mutation associated with parkinsonism. 61 25
10983721 2000
46
Alternative RNA splicing generates a glycosylphosphatidylinositol-anchored form of ceruloplasmin in mammalian brain. 61 25
10660599 2000
47
Estimation of the gene frequency of aceruloplasminemia in Japan. 61 25
10449129 1999
48
A novel splicing mutation in the ceruloplasmin gene responsible for hereditary ceruloplasmin deficiency with hemosiderosis. 25 61
9559983 1998
49
Hereditary ceruloplasmin deficiency with hemosiderosis: a clinicopathological study of a Japanese family. 57
7755360 1995
50
Meige disease: acute and chronic cholinergic effects. 57
7201118 1982

Variations for Aceruloplasminemia

ClinVar genetic disease variations for Aceruloplasminemia:

6 (show top 50) (show all 305)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CP NM_000096.4(CP):c.3019-1G>A SNV Pathogenic 17559 rs386134142 GRCh37: 3:148894200-148894200
GRCh38: 3:149176413-149176413
2 CP NM_000096.4(CP):c.3019-1G>A SNV Pathogenic 17559 rs386134142 GRCh37: 3:148894200-148894200
GRCh38: 3:149176413-149176413
3 CP NM_000096.4(CP):c.2389del (p.Glu797fs) Deletion Pathogenic 17560 rs386134149 GRCh37: 3:148901289-148901289
GRCh38: 3:149183502-149183502
4 CP NM_000096.4(CP):c.1282_1286dup (p.Asp430fs) Duplication Pathogenic 17561 rs386134145 GRCh37: 3:148919950-148919951
GRCh38: 3:149202163-149202164
5 CP NM_000096.4(CP):c.1282_1286dup (p.Asp430fs) Duplication Pathogenic 17561 rs386134145 GRCh37: 3:148919950-148919951
GRCh38: 3:149202163-149202164
6 CP NM_000096.4(CP):c.2630G>A (p.Trp877Ter) SNV Pathogenic 17562 rs121909579 GRCh37: 3:148897374-148897374
GRCh38: 3:149179587-149179587
7 CP NM_000096.4(CP):c.2630G>A (p.Trp877Ter) SNV Pathogenic 17562 rs121909579 GRCh37: 3:148897374-148897374
GRCh38: 3:149179587-149179587
8 CP NM_000096.3(CP):c.606dupA (p.Asp203Argfs) Duplication Pathogenic 17563 rs386134143 GRCh37: 3:148927954-148927955
GRCh38: 3:149210167-149210168
9 CP NM_000096.3(CP):c.606dupA (p.Asp203Argfs) Duplication Pathogenic 17563 rs386134143 GRCh37: 3:148927954-148927955
GRCh38: 3:149210167-149210168
10 CP NM_000096.4(CP):c.1049C>A (p.Ala350Asp) SNV Pathogenic 42047 rs386134127 GRCh37: 3:148924114-148924114
GRCh38: 3:149206327-149206327
11 CP NM_000096.4(CP):c.548T>C (p.Ile183Thr) SNV Pathogenic 42056 rs386134123 GRCh37: 3:148928013-148928013
GRCh38: 3:149210226-149210226
12 CP NM_000096.4(CP):c.82A>T (p.Ile28Phe) SNV Pathogenic 42057 rs386134121 GRCh37: 3:148939498-148939498
GRCh38: 3:149221711-149221711
13 CP NM_000096.4(CP):c.2953A>G (p.Met985Val) SNV Pathogenic 42062 rs386134132 GRCh37: 3:148895692-148895692
GRCh38: 3:149177905-149177905
14 CP NM_000096.4(CP):c.587C>G (p.Pro196Arg) SNV Pathogenic 42119 rs386134124 GRCh37: 3:148927974-148927974
GRCh38: 3:149210187-149210187
15 CP NM_000096.4(CP):c.493C>G (p.Gln165Glu) SNV Pathogenic 42120 rs386134122 GRCh37: 3:148928068-148928068
GRCh38: 3:149210281-149210281
16 CP NM_000096.4(CP):c.2131C>A (p.Gln711Lys) SNV Pathogenic 42121 rs386134130 GRCh37: 3:148903180-148903180
GRCh38: 3:149185393-149185393
17 CP NM_000096.4(CP):c.643C>T (p.Arg215Ter) SNV Pathogenic 42122 rs386134155 GRCh37: 3:148927136-148927136
GRCh38: 3:149209349-149209349
18 CP NM_000096.4(CP):c.848G>C (p.Trp283Ser) SNV Pathogenic 42126 rs386134126 GRCh37: 3:148925338-148925338
GRCh38: 3:149207551-149207551
19 CP NM_000096.4(CP):c.1123T>C (p.Tyr375His) SNV Pathogenic 42128 rs386134128 GRCh37: 3:148924040-148924040
GRCh38: 3:149206253-149206253
20 CP NM_000096.4(CP):c.1209-2A>G SNV Pathogenic 42130 rs386134137 GRCh37: 3:148920030-148920030
GRCh38: 3:149202243-149202243
21 CP NM_000096.3(CP):c.1209_1210dupTG (p.Asp404Valfs) Duplication Pathogenic 42131 rs386134138 GRCh37: 3:148920026-148920027
GRCh38: 3:149202239-149202240
22 CP NM_000096.4(CP):c.1257_1258del (p.Ser419_Tyr420insTer) Deletion Pathogenic 42133 rs386134144 GRCh37: 3:148919979-148919980
GRCh38: 3:149202192-149202193
23 CP NM_000096.4(CP):c.146+1G>A SNV Pathogenic 42135 rs386134134 GRCh37: 3:148939433-148939433
GRCh38: 3:149221646-149221646
24 CP NM_000096.4(CP):c.1865-1G>A SNV Pathogenic 42139 rs386134139 GRCh37: 3:148904520-148904520
GRCh38: 3:149186733-149186733
25 CP NM_000096.4(CP):c.1918del (p.Asp640fs) Deletion Pathogenic 42141 rs386134146 GRCh37: 3:148904466-148904466
GRCh38: 3:149186679-149186679
26 CP NM_000096.4(CP):c.2066del (p.Pro689fs) Deletion Pathogenic 42143 rs386134147 GRCh37: 3:148904318-148904318
GRCh38: 3:149186531-149186531
27 CP NM_000096.4(CP):c.2068del (p.Asp690fs) Deletion Pathogenic 42144 rs386134148 GRCh37: 3:148904316-148904316
GRCh38: 3:149186529-149186529
28 CP NM_000096.4(CP):c.2185del (p.Leu729fs) Deletion Pathogenic 42147 rs587777922 GRCh37: 3:148903126-148903126
GRCh38: 3:149185339-149185339
29 CP NM_000096.4(CP):c.2482del (p.Ala828fs) Deletion Pathogenic 42150 rs386134150 GRCh37: 3:148899864-148899864
GRCh38: 3:149182077-149182077
30 CP NM_000096.4(CP):c.2511dup (p.Gly838fs) Duplication Pathogenic 42151 rs386134151 GRCh37: 3:148899834-148899835
GRCh38: 3:149182047-149182048
31 CP NM_000096.4(CP):c.2554+1G>T SNV Pathogenic 42152 rs386134140 GRCh37: 3:148899791-148899791
GRCh38: 3:149182004-149182004
32 CP NM_000096.4(CP):c.2603del (p.Gly868fs) Deletion Pathogenic 42153 rs386134152 GRCh37: 3:148897401-148897401
GRCh38: 3:149179614-149179614
33 CP NM_000096.4(CP):c.2689_2690del (p.Leu897fs) Deletion Pathogenic 42154 rs386134153 GRCh37: 3:148896390-148896391
GRCh38: 3:149178603-149178604
34 CP NM_000096.4(CP):c.2879-1G>A SNV Pathogenic 42155 rs386134141 GRCh37: 3:148895767-148895767
GRCh38: 3:149177980-149177980
35 CP NM_000096.4(CP):c.2917dup (p.Thr973fs) Duplication Pathogenic 42156 rs386134154 GRCh37: 3:148895727-148895728
GRCh38: 3:149177940-149177941
36 CP NM_000096.4(CP):c.395-1G>A SNV Pathogenic 42168 rs386134135 GRCh37: 3:148928167-148928167
GRCh38: 3:149210380-149210380
37 CP NM_000096.4(CP):c.607+1G>A SNV Pathogenic 42172 rs386134136 GRCh37: 3:148927953-148927953
GRCh38: 3:149210166-149210166
38 CP NM_000096.4(CP):c.650T>C (p.Phe217Ser) SNV Pathogenic 42051 rs386134125 GRCh37: 3:148927129-148927129
GRCh38: 3:149209342-149209342
39 CP NM_000096.4(CP):c.1874G>A (p.Gly625Glu) SNV Pathogenic 42052 rs386134129 GRCh37: 3:148904510-148904510
GRCh38: 3:149186723-149186723
40 CP NM_000096.4(CP):c.2675G>A (p.Gly892Glu) SNV Pathogenic 42053 rs386134131 GRCh37: 3:148896405-148896405
GRCh38: 3:149178618-149178618
41 MT-ATP6 NC_012920.1:m.8993T>G SNV Pathogenic 9641 rs199476133 GRCh37: MT:8993-8993
GRCh38: MT:8993-8993
42 CP NM_000096.4(CP):c.2701C>T (p.Arg901Ter) SNV Pathogenic 42124 rs386134156 GRCh37: 3:148896379-148896379
GRCh38: 3:149178592-149178592
43 ATM NM_000051.3(ATM):c.689del (p.Asn230fs) Deletion Pathogenic 374194 rs1057518965 GRCh37: 11:108115539-108115539
GRCh38: 11:108244812-108244812
44 SLC2A1 NM_006516.3(SLC2A1):c.470dup (p.Thr158fs) Duplication Pathogenic 373993 rs1057518821 GRCh37: 1:43396342-43396343
GRCh38: 1:42930671-42930672
45 NPC1 NM_000271.5(NPC1):c.3019C>G (p.Pro1007Ala) SNV Pathogenic 2966 rs80358257 GRCh37: 18:21118528-21118528
GRCh38: 18:23538564-23538564
46 CACNA1A NM_001127222.2(CACNA1A):c.5015G>C (p.Arg1672Pro) SNV Pathogenic 375366 rs1057519429 GRCh37: 19:13346480-13346480
GRCh38: 19:13235666-13235666
47 CP NM_000096.4(CP):c.2078-74_2241del Deletion Pathogenic 488149 rs1553759167 GRCh37: 3:148903070-148903307
GRCh38: 3:149185283-149185520
48 CP NM_000096.4(CP):c.1208+1G>A SNV Pathogenic 488150 rs1553762556 GRCh37: 3:148923954-148923954
GRCh38: 3:149206167-149206167
49 CP NM_000096.4(CP):c.1012T>A (p.Cys338Ser) SNV Pathogenic 488147 rs769313989 GRCh37: 3:148925174-148925174
GRCh38: 3:149207387-149207387
50 CP NM_000096.4(CP):c.1865-291_2077+352del Deletion Pathogenic 488148 rs1553759338 GRCh37: 3:148903955-148904810
GRCh38: 3:149186168-149187023

Copy number variations for Aceruloplasminemia from CNVD:

7
# CNVD ID Chromosome 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:

36
# 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 SURF1 PLA2G6 MT-ATP6 HARS1 COQ4 C11orf65

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

# Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 9.02 MT-ATP6 KCNN2 KCNJ10 CP CACNA1A

Sources for Aceruloplasminemia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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