ACERULOP
MCID: ACR006
MIFTS: 65

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 56 12 74 24 52 25 58 73 36 15 37 39
Hypoceruloplasminemia 52 25 29 6
Cerebellar Ataxia 56 29 13 6
Hemosiderosis, Systemic, Due to Aceruloplasminemia 56 29 6
Familial Apoceruloplasmin Deficiency 52 25 71
Hereditary Ceruloplasmin Deficiency 52 25 58
Deficiency of Ferroxidase 25 29 6
Systemic Hemosiderosis Due to Aceruloplasminemia 52 25
Ceruloplasmin Deficiency 52 71
Hypoceruloplasminemia, Hereditary 56
Acerulop 73

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:

56
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

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. 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 autosomal recessive cerebellar ataxia 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 Estradiol and Clonidine have been mentioned in the context of this disorder. Affiliated tissues include Adipose, and related phenotypes are tremor 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.

NIH Rare Diseases : 52 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.

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 : 73 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 : 74 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 932)
# Related Disease Score Top Affiliating Genes
1 autosomal recessive cerebellar ataxia 34.9 SETX CACNA1A ATM
2 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia 34.8 SETX CACNA1A ATM
3 kearns-sayre syndrome 33.5 SURF1 MT-ATP6 MFN2 CACNA1A
4 spastic ataxia 33.2 KIF1C HARS1 CACNA1A
5 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 33.1 SETX CACNA1A
6 joubert syndrome 21 32.8 KIF7 CEP104
7 joubert syndrome 25 32.6 KIF7 CEP104
8 joubert syndrome 26 32.6 KIF7 CEP104
9 spinocerebellar ataxia type 1 with axonal neuropathy 32.2 SETX ATM
10 pathologic nystagmus 32.2 SETX KIF7 HARS1 CACNA1A
11 peripheral nervous system disease 32.0 SETX MT-ATP6 MFN2 HARS1 CACNA1A
12 cerebellar disease 31.9 SETX CP CACNA1A ATM
13 cerebellar degeneration 31.9 CACNA1A ATM
14 apraxia 31.8 SETX KIF7 CEP104 ATM
15 spasticity 31.8 SLC2A1 PMM2 KIF7
16 oculomotor apraxia 31.7 SETX HARS1 CEP104 ATM
17 alacrima, achalasia, and mental retardation syndrome 31.6 SLC2A1 KIF1C HARS1 CACNA1A
18 movement disease 31.6 SLC2A1 PLA2G6 CP CACNA1A
19 hereditary spastic paraplegia 31.4 SPART SLC2A1 SETX PLA2G6 MT-ATP6 KIF1C
20 hemiplegia 31.3 SLC2A1 MT-ATP6 CACNA1A
21 optic nerve disease 31.3 MT-ATP6 MFN2 KCNJ10 DNM1
22 tremor 31.2 MT-ATP6 HARS1 CACNA1A
23 dystonia 31.2 SLC2A1 SETX PLA2G6 NPC1 KIF1C CP
24 motor neuron disease 31.1 SPART SETX MFN2 KIF1C
25 microcephaly 31.1 SPART SLC2A1 PTRH2 PLA2G6 MFN2 KCNJ10
26 mitochondrial metabolism disease 31.0 SURF1 MT-TE MT-ATP6 MFN2
27 mitochondrial myopathy 30.8 SURF1 MT-TE MT-ATP6 MFN2
28 strabismus 30.8 SPART SLC2A1 PTRH2 PMM2 KIF7 CACNA1A
29 cerebellar ataxia, deafness, and narcolepsy, autosomal dominant 12.8
30 cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1 12.8
31 cerebellar ataxia, nonprogressive, with mental retardation 12.8
32 cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss 12.8
33 cerebellar ataxia, early-onset, with retained tendon reflexes 12.7
34 cerebellar ataxia and ectodermal dysplasia 12.7
35 cerebellar ataxia, cayman type 12.7
36 cerebellar ataxia, mental retardation, and dysequilibrium syndrome 3 12.7
37 cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2 12.7
38 cerebellar ataxia, neuropathy, and vestibular areflexia syndrome 12.7
39 myoclonus, cerebellar ataxia, and deafness 12.7
40 cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4 12.7
41 autosomal dominant cerebellar ataxia 12.7
42 charcot-marie-tooth disease, x-linked recessive, 4, with or without cerebellar ataxia 12.6
43 intellectual developmental disorder with or without epilepsy or cerebellar ataxia 12.6
44 cerebellar ataxia type 47 12.6
45 cognitive impairment with or without cerebellar ataxia 12.6
46 brachydactyly-nystagmus-cerebellar ataxia 12.6
47 corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia 12.6
48 cerebellar ataxia type 42 12.5
49 x-linked cerebellar ataxia 12.5
50 cerebellar ataxia type 9 12.5

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 50)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 tremor 58 31 hallmark (90%) Occasional (29-5%) HP:0001337
2 diabetes mellitus 58 31 hallmark (90%) Frequent (79-30%) HP:0000819
3 chorea 58 31 hallmark (90%) Frequent (79-30%) HP:0002072
4 increased serum ferritin 58 31 hallmark (90%) Very frequent (99-80%) HP:0003281
5 retinal degeneration 58 31 hallmark (90%) Frequent (79-30%) HP:0000546
6 refractory anemia 58 31 hallmark (90%) Very frequent (99-80%) HP:0005505
7 decreased serum ceruloplasmin 58 31 hallmark (90%) Frequent (79-30%) HP:0010837
8 elevated hepatic iron concentration 58 31 hallmark (90%) Frequent (79-30%) HP:0012465
9 ataxia 58 31 frequent (33%) Frequent (79-30%) HP:0001251
10 blepharospasm 58 31 frequent (33%) Occasional (29-5%) HP:0000643
11 torticollis 58 31 frequent (33%) Occasional (29-5%) HP:0000473
12 parkinsonism 58 31 frequent (33%) Occasional (29-5%) HP:0001300
13 delayed speech and language development 31 frequent (33%) HP:0000750
14 hypertonia 31 frequent (33%) HP:0001276
15 depressivity 31 frequent (33%) HP:0000716
16 dementia 31 frequent (33%) HP:0000726
17 congestive heart failure 58 31 occasional (7.5%) Occasional (29-5%) HP:0001635
18 memory impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0002354
19 dysarthria 58 31 occasional (7.5%) Frequent (79-30%) HP:0001260
20 hypothyroidism 31 occasional (7.5%) HP:0000821
21 aceruloplasminemia 58 31 Very frequent (99-80%) HP:0025498
22 decreased serum iron 58 31 Frequent (79-30%) HP:0040303
23 abnormality of retinal pigmentation 58 Frequent (79-30%)
24 cognitive impairment 58 Frequent (79-30%)
25 anemia 31 HP:0001903
26 nystagmus 58 Occasional (29-5%)
27 cirrhosis 58 Excluded (0%)
28 hepatic fibrosis 58 Excluded (0%)
29 abnormality of extrapyramidal motor function 31 HP:0002071
30 involuntary movements 58 Frequent (79-30%)
31 dystonia 58 Frequent (79-30%)
32 abnormality of the nervous system 58 Very frequent (99-80%)
33 abnormal pancreas morphology 58 Occasional (29-5%)
34 gait ataxia 58 Frequent (79-30%)
35 rigidity 58 Occasional (29-5%)
36 iron accumulation in brain 58 Occasional (29-5%)
37 scanning speech 31 HP:0002168
38 macular degeneration 58 Frequent (79-30%)
39 apathy 58 Occasional (29-5%)
40 akinesia 58 Occasional (29-5%)
41 decreased circulating copper concentration 58 Frequent (79-30%)
42 cogwheel rigidity 31 HP:0002396
43 hypochromic microcytic anemia 58 Very frequent (99-80%)
44 abnormal enzyme/coenzyme activity 58 Very frequent (99-80%)
45 limb ataxia 58 Frequent (79-30%)
46 facial grimacing 58 Occasional (29-5%)
47 abnormal corpus striatum morphology 58 Occasional (29-5%)
48 craniofacial dystonia 58 Occasional (29-5%)
49 abnormal thalamic mri signal intensity 58 Occasional (29-5%)
50 abnormality of the dentate nucleus 58 Occasional (29-5%)

Symptoms via clinical synopsis from OMIM:

56
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

UMLS symptoms related to Aceruloplasminemia:


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

MGI Mouse Phenotypes related to Aceruloplasminemia:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.07 ATM CACNA1A CP DNM1 KIF7 MFN2
2 behavior/neurological MP:0005386 10.06 ATM CACNA1A CP DNM1 KCNJ10 MFN2
3 homeostasis/metabolism MP:0005376 10 ATM CACNA1A CP DNM1 KCNJ10 KIF7
4 nervous system MP:0003631 9.77 ATM CACNA1A CP DNM1 KCNJ10 KIF7
5 vision/eye MP:0005391 9.23 CACNA1A CP DNM1 KCNJ10 KIF7 NPC1

Drugs & Therapeutics for Aceruloplasminemia

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

(show top 50) (show all 190)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Estradiol Approved, Investigational, Vet_approved Phase 4 50-28-2 5757
2
Clonidine Approved Phase 4 4205-90-7 2803
3
Polyestradiol phosphate Approved Phase 4 28014-46-2
4
Citalopram Approved Phase 4 59729-33-8 2771
5
Bupropion Approved Phase 4 34911-55-2, 34841-39-9 444
6
Dopamine Approved Phase 4 51-61-6, 62-31-7 681
7
Amantadine Approved Phase 4 768-94-5 2130
8
Pioglitazone Approved, Investigational Phase 4 111025-46-8 4829
9
Metformin Approved Phase 4 657-24-9 14219 4091
10 Neurotransmitter Agents Phase 4
11 Analgesics Phase 4
12 Antihypertensive Agents Phase 4
13 Adrenergic alpha-Agonists Phase 4
14 Insulin, Globin Zinc Phase 4
15 Estradiol 17 beta-cypionate Phase 4
16 Mitogens Phase 4
17 Adrenergic Agents Phase 4
18 Estradiol 3-benzoate Phase 4
19 Contraceptive Agents Phase 4
20 insulin Phase 4
21 Sympatholytics Phase 4
22 Adrenergic Agonists Phase 4
23 Estrogens Phase 4
24 Cholinergic Agents Phase 4
25 Dopamine Agents Phase 4
26 Cytochrome P-450 Enzyme Inhibitors Phase 4
27 Antidepressive Agents Phase 4
28 Parasympatholytics Phase 4
29 Antiparkinson Agents Phase 4
30 Psychotropic Drugs Phase 4
31 Serotonin Uptake Inhibitors Phase 4
32 Muscarinic Antagonists Phase 4
33 Cholinergic Antagonists Phase 4
34 Hypoglycemic Agents Phase 4
35 TA 0910 Phase 4
36
Arginine Investigational, Nutraceutical Phase 4 74-79-3 6322
37
Serotonin Investigational, Nutraceutical Phase 4 50-67-9 5202
38
Droxidopa Approved, Investigational Phase 2, Phase 3 23651-95-8 443940
39
Idarubicin Approved Phase 3 58957-92-9 42890
40
Idebenone Approved, Investigational Phase 3 58186-27-9
41
Lithium carbonate Approved Phase 2, Phase 3 554-13-2
42
Ethanol Approved Phase 3 64-17-5 702
43
Riluzole Approved, Investigational Phase 3 1744-22-5 5070
44
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 3 1177-87-3
45
Dexamethasone Approved, Investigational, Vet_approved Phase 3 50-02-2 5743
46
Varenicline Approved, Investigational Phase 2, Phase 3 249296-44-4 5310966
47
Coenzyme Q10 Approved, Investigational, Nutraceutical Phase 3 303-98-0 5281915
48 Ubiquinone Phase 3
49 Antioxidants Phase 3
50 interferons Phase 3

Interventional clinical trials:

(show top 50) (show all 178)
# 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 The Effect of Amantadine on Movement Disorder in Ataxia-Telangiectasia Completed NCT00950196 Phase 4 amantadine sulphate
4 Response of Individuals With Ataxia-Telangiectasia to Metformin and Pioglitazone Completed NCT02733679 Phase 4 Metformin;Pioglitazone
5 Multicenter, Randomized, Double-blind, Placebo-controlled, Phase IV Clinical Trial to Evaluate and Compare the Safety and Efficacy of C-Trelin OD Tab 5mg(Taltirelin Hydrate) in Patients With Ataxia Induced by Spinocerebellar Degeneration Recruiting NCT04107740 Phase 4 C-Trelin OD Tab(5mg Taltirelin Hydrate);Placebo
6 Evaluate the Long-term (3 Months) Efficacy of L-threo DOPS (DroxiDopa) on Orthostatic Hypotension Symptoms and Other Non-motor Symptoms in Patients With Multiple System Atrophy (MSA). Comparative Study Versus Placebo Unknown status NCT02071459 Phase 2, Phase 3 L-Threo DOPS;placebo
7 A Prospective Randomized Comparison of Idarubicin and High-dose Daunorubicin in Combination With Cytarabine in the Induction Chemotherapy for Acute Myeloid Leukemia Unknown status NCT01145846 Phase 3 Cytarabine plus Daunorubicin [Arm II (AD regimen)]
8 Efficacy of Riluzole in Hereditary Cerebellar Ataxia: a Randomized Double-blind Placebo-controlled Trial. Completed NCT01104649 Phase 2, Phase 3 riluzole;Placebo comparator
9 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
10 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
11 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
12 Evolution of Albumin on AOA1 Patients Supplemented With Coenzyme Q10 Completed NCT02333305 Phase 3
13 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
14 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
15 Conjugate Pneumococcal Vaccine in Ataxia Telangiectasia (AT) Completed NCT00656409 Phase 3 Conjugated pneumococcal vaccine (Prevenar)
16 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
17 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
18 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
19 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
20 Effect of Pioglitazone Administered to Patients With Friedreich's ATAXIA:Proof of Concept Completed NCT00811681 Phase 3 pioglitazone;Placebo
21 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
22 A Phase III, Long-Term, Randomized, Double-blind, Placebo-controlled Trial of Troriluzole in Adult Subjects With Spinocerebellar Ataxia. Recruiting NCT03701399 Phase 3 troriluzole;Placebos
23 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 Recruiting NCT04102501 Phase 3 RT001;Placebo
24 Multicenter, Randomized, Double Blind, Placebo Controlled Clinical Trial With Riluzole in Spinocerebellar Ataxia Type 2 Recruiting NCT03347344 Phase 3 Riluzole;Placebo
25 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
26 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 Comparator
27 An Open Pilot Trial of BHV-4157 in Adult Subjects With Cerebellar Ataxia Active, not recruiting NCT03408080 Phase 3 BHV-4157
28 Pilot Study of Varenicline (Chantix®) in the Treatment of Friedreich's Ataxia Terminated NCT00803868 Phase 2, Phase 3 varenicline;placebo
29 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
30 The Safety and Efficacy of Umbilical Cord Mesenchymal Stem Cells Transplantation in Hereditary Cerebellar Ataxia Patients Unknown status NCT01489267 Phase 2
31 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
32 Phase I/II Study of Umbilical Cord Mesenchymal Stem Cell Therapy for Patients With Hereditary Ataxia Unknown status NCT01360164 Phase 1, Phase 2
33 A Clinical Research on the Safety/Efficacy of Umbilical Cord Mesenchymal Stem Cells Therapy for Patients With Spinocerebellar Ataxia Unknown status NCT03378414 Phase 2
34 Phase 2 Study of 4-Aminopyridine for the Treatment of Episodic Ataxia Type 2 Unknown status NCT01543750 Phase 2 4-Aminopyridine;Placebo
35 Treatment of Cerebellar Ataxia With Mesenchymal Stem Cells Completed NCT01649687 Phase 1, Phase 2
36 Phase 2 Study of Riluzole Effects on Patients With Chronic Cerebellar Ataxia Completed NCT00202397 Phase 2 Riluzole
37 Safety and Efficacy of Intravenous Immune Globulin in Treating Spinocerebellar Ataxia Completed NCT01350440 Phase 2
38 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
39 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
40 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
41 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 RT001;RT001 comparator
42 A Phase IIa Clinical Trial to Test the Safety and Efficacy of Interferon Gamma Treatment in Elevating Frataxin Levels in Friedreich's Ataxia (FRDA) Patients Completed NCT02035020 Phase 2 gamma interferon
43 A Phase 2A Clinical Trial of EPI-743 (Vincerinone™) on Visual Function in Friedreich's Ataxia Patients With Point Mutations Completed NCT01962363 Phase 2 EPI-743
44 Randomized, Placebo-controlled Trial to Test Safety, Tolerability and Efficacy of Lithium Carbonate in Spinocerebellar Ataxia 2 Completed NCT00998634 Phase 2 LITHIUM CARBONATE
45 Effect of Iron-Chelating Therapy in Friedreich Ataxia. Study Phase I/II Completed NCT00224640 Phase 1, Phase 2 Iron chelating intervention
46 The Efficacy of High-Dose Intravenous Immunoglobulin Therapy In Patients With Cerebellar Degeneration: A Double Blind, Placebo Controlled Trial Completed NCT00034242 Phase 2 high-dose intravenous immunoglobulin (IVIG)
47 An Open Label Clinical Pilot Study of Resveratrol as Treatment for Friedreich Ataxia Completed NCT01339884 Phase 1, Phase 2 Resveratrol
48 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
49 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
50 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

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
Brain, Retina, Eye, Liver, Pancreas, Testes, 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 260)
# Title Authors PMID Year
1
A mutation in the ceruloplasmin gene is associated with systemic hemosiderosis in humans. 6 56 24 61
7539672 1995
2
Familial apoceruloplasmin deficiency associated with blepharospasm and retinal degeneration. 61 6 24 56
3574673 1987
3
Hereditary ceruloplasmin deficiency with hemosiderosis. 6 56 61
8641692 1996
4
Characterization of a nonsense mutation in the ceruloplasmin gene resulting in diabetes and neurodegenerative disease. 61 56 6
8789443 1996
5
Aceruloplasminemia: molecular characterization of this disorder of iron metabolism. 61 6 56
7708681 1995
6
[A case of ceruloplasmin deficiency which showed dementia, ataxia and iron deposition in the brain]. 56 61 6
1458725 1992
7
Use of desferrioxamine in the treatment of aceruloplasminemia. 56 24 61
9066364 1997
8
Hereditary caeruloplasmin deficiency, dementia and diabetes mellitus. 56 6
7820540 1994
9
Gene deletions causing human genetic disease: mechanisms of mutagenesis and the role of the local DNA sequence environment. 6 56
2016084 1991
10
Iron metabolism in copper-deficient swine. 56 6
5675426 1968
11
The possible significance of the ferrous oxidase activity of ceruloplasmin in normal human serum. 56 6
5912351 1966
12
Disruption of ceruloplasmin and hephaestin in mice causes retinal iron overload and retinal degeneration with features of age-related macular degeneration. 61 56
15365174 2004
13
Aceruloplasminemia 6 61
20301666 2003
14
Cerebellar ataxia associated with heteroallelic ceruloplasmin gene mutation. 61 6
11756598 2001
15
Recent advances in disorders of iron metabolism: mutations, mechanisms and modifiers. 61 56
11673399 2001
16
Hereditary hypoceruloplasminemia. 61 56
436329 1979
17
Phenotypic heterogeneity in seven Italian cases of aceruloplasminemia. 24 61
29503155 2018
18
Neurodegeneration with Brain Iron Accumulation Disorders Overview 6
23447832 2013
19
Aceruloplasminemia. 24 61
22515740 2012
20
Desferrioxamine treatment of aceruloplasminemia: Long-term follow-up. 61 24
21594898 2011
21
Hepatic but not brain iron is rapidly chelated by deferasirox in aceruloplasminemia due to a novel gene mutation. 24 61
20801540 2010
22
Treatment of symptomatic heterozygous aceruloplasminemia with oral zinc sulphate. 24 61
17307325 2007
23
Novel mutation in the ceruloplasmin gene causing a cognitive and movement disorder with diabetes mellitus. 24 61
17013908 2006
24
Iron overload and antioxidative role of perivascular astrocytes in aceruloplasminemia. 61 24
16599945 2006
25
Molecular and pathological basis of aceruloplasminemia. 24 61
16629161 2006
26
Biochemical features of ceruloplasmin gene mutations linked to aceruloplasminemia. 61 24
16775387 2006
27
Aceruloplasminemia in an asymptomatic patient with a new mutation. Diagnosis and family genetic analysis. 24 61
15885371 2005
28
Aceruloplasminemia, an iron metabolic disorder. 24 61
14719552 2003
29
Aceruloplasminemia with juvenile-onset diabetes mellitus caused by exon skipping in the ceruloplasmin gene. 24 61
12879954 2003
30
Aceruloplasminemia, an inherited disorder of iron metabolism. 24 61
12572680 2003
31
Astrocytic deformity and globular structures are characteristic of the brains of patients with aceruloplasminemia. 61 24
12484569 2002
32
Anemia and iron overload due to compound heterozygosity for novel ceruloplasmin mutations. 24 61
12200392 2002
33
Aceruloplasminemia: new clinical, pathophysiological and therapeutic insights. 61 24
12044538 2002
34
Biochemical analysis of a missense mutation in aceruloplasminemia. 61 24
11689569 2002
35
Aceruloplasminemia with a novel mutation associated with parkinsonism. 61 24
10983721 2000
36
Alternative RNA splicing generates a glycosylphosphatidylinositol-anchored form of ceruloplasmin in mammalian brain. 61 24
10660599 2000
37
Estimation of the gene frequency of aceruloplasminemia in Japan. 24 61
10449129 1999
38
A novel splicing mutation in the ceruloplasmin gene responsible for hereditary ceruloplasmin deficiency with hemosiderosis. 61 24
9559983 1998
39
Hereditary ceruloplasmin deficiency with hemosiderosis: a clinicopathological study of a Japanese family. 56
7755360 1995
40
Meige disease: acute and chronic cholinergic effects. 56
7201118 1982
41
Pharmacology of blepharospasm-oromandibular dystonia syndrome. 56
7190236 1980
42
The oral iron chelator deferiprone protects against iron overload-induced retinal degeneration. 24
21051716 2011
43
Aceruloplasminaemia with progressive atrophy without brain iron overload: treatment with oral chelation. 24
17911185 2008
44
Extrapyramidal and cerebellar movement disorder in association with heterozygous ceruloplasmin gene mutation. 24
15654567 2005
45
Iron chelation therapy in aceruloplasminaemia: study of a patient with a novel missense mutation. 24
15082597 2004
46
Glycosylphosphatidylinositol-anchored ceruloplasmin is required for iron efflux from cells in the central nervous system. 24
12743117 2003
47
Hepatic iron overload in aceruloplasminaemia. 24
11076887 2000
48
A novel mutation of the ceruloplasmin gene in a patient with heteroallelic ceruloplasmin gene mutation (HypoCPGM). 24
10997552 2000
49
A case of hereditary ceruloplasmin deficiency with iron deposition in the brain associated with chorea, dementia, diabetes mellitus and retinal pigmentation: administration of fresh-frozen human plasma. 24
10529542 1999
50
Automated measurement of serum ferroxidase activity. 24
9799759 1998

Variations for Aceruloplasminemia

ClinVar genetic disease variations for Aceruloplasminemia:

6 (show top 50) (show all 260) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CP NM_000096.4(CP):c.2078-74_2241deldeletion Pathogenic 488149 rs1553759167 3:148903070-148903307 3:149185283-149185520
2 CP NM_000096.4(CP):c.1865-291_2077+352deldeletion Pathogenic 488148 rs1553759338 3:148903955-148904810 3:149186168-149187023
3 CP NM_000096.4(CP):c.1208+1G>ASNV Pathogenic 488150 rs1553762556 3:148923954-148923954 3:149206167-149206167
4 CP NM_000096.4(CP):c.1012T>A (p.Cys338Ser)SNV Pathogenic 488147 rs769313989 3:148925174-148925174 3:149207387-149207387
5 SETX NM_015046.7(SETX):c.5306_5307GA[1] (p.Glu1770fs)short repeat Pathogenic 448333 rs750959420 9:135187207-135187210 9:132311820-132311823
6 CP NC_000003.12:g.(?_149206148)_(149206359_?)deldeletion Pathogenic 532021 3:148923935-148924146 3:149206148-149206359
7 CP NM_000096.4(CP):c.1503_1504TG[3] (p.Pro503fs)short repeat Pathogenic 532017 rs1553761391 3:148916360-148916361 3:149198573-149198574
8 CACNA1A NM_000068.4(CACNA1A):c.5547-1241_5547-1240deldeletion Pathogenic 560724 rs1568440440 19:13339581-13339582 19:13228767-13228768
9 CP NC_000003.12:g.(?_149221627)_(149221812_?)deldeletion Pathogenic 584171 3:148939414-148939599 3:149221627-149221812
10 CP NM_000096.4(CP):c.2702dup (p.Arg902fs)duplication Pathogenic 582988 rs1559935542 3:148896377-148896378 3:149178590-149178591
11 CP NM_000096.4(CP):c.2253G>A (p.Trp751Ter)SNV Pathogenic 574977 rs1559940237 3:148903058-148903058 3:149185271-149185271
12 KIF1C NM_006612.6(KIF1C):c.1051_1055del (p.Asn351fs)deletion Pathogenic 625205 17:4908178-4908182 17:5004883-5004887
13 CP NM_000096.4(CP):c.2498C>G (p.Ser833Ter)SNV Pathogenic 645495 3:148899848-148899848 3:149182061-149182061
14 CP NM_000096.4(CP):c.1613del (p.Met538fs)deletion Pathogenic 646713 3:148916254-148916254 3:149198467-149198467
15 ATM NM_000051.3(ATM):c.3244_3245insG (p.His1082fs)insertion Pathogenic 689374 11:108143539-108143540 11:108272812-108272813
16 MT-ATP6 NC_012920.1:m.9032T>CSNV Pathogenic 693061 MT:9032-9032 MT:9032-9032
17 HARS1 NM_002109.6(HARS1):c.1393A>C (p.Ile465Leu)SNV Pathogenic 804288 5:140054329-140054329 5:140674744-140674744
18 HARS1 NM_002109.6(HARS1):c.910_912dup (p.Leu305dup)duplication Pathogenic 804287 5:140056612-140056613 5:140677027-140677028
19 MT-TE NC_012920.1:m.14724G>ASNV Pathogenic 805947 MT:14724-14724 MT:14724-14724
20 CEP104 NM_014704.4(CEP104):c.89del (p.Thr30fs)deletion Pathogenic 812756 1:3768883-3768883 1:3852319-3852319
21 PLA2G6 NM_003560.4(PLA2G6):c.1634A>C (p.Lys545Thr)SNV Pathogenic 6196 rs121908681 22:38516874-38516874 22:38120867-38120867
22 KCNJ10 NM_002241.5(KCNJ10):c.194G>C (p.Arg65Pro)SNV Pathogenic 7462 rs137853066 1:160012129-160012129 1:160042339-160042339
23 PMM2 NM_000303.3(PMM2):c.422G>A (p.Arg141His)SNV Pathogenic 7706 rs28936415 16:8905010-8905010 16:8811153-8811153
24 PMM2 NM_000303.3(PMM2):c.338C>T (p.Pro113Leu)SNV Pathogenic 7723 rs80338700 16:8900255-8900255 16:8806398-8806398
25 MT-ATP6 NC_012920.1:m.8993T>GSNV Pathogenic 9641 rs199476133 MT:8993-8993 MT:8993-8993
26 SURF1 NM_003172.4(SURF1):c.841_842CT[2] (p.Ser282fs)short repeat Pathogenic 12770 rs782316919 9:136218825-136218826 9:133351970-133351971
27 CP NM_000096.4(CP):c.3019-1G>ASNV Pathogenic 17559 rs386134142 3:148894200-148894200 3:149176413-149176413
28 CP NM_000096.4(CP):c.2389del (p.Glu797fs)deletion Pathogenic 17560 rs386134149 3:148901289-148901289 3:149183502-149183502
29 CP NM_000096.4(CP):c.1282_1286dup (p.Asp430fs)duplication Pathogenic 17561 rs386134145 3:148919950-148919951 3:149202163-149202164
30 CP NM_000096.4(CP):c.2630G>A (p.Trp877Ter)SNV Pathogenic 17562 rs121909579 3:148897374-148897374 3:149179587-149179587
31 CP NM_000096.3(CP):c.606dupA (p.Asp203Argfs)duplication Pathogenic 17563 rs386134143 3:148927954-148927955 3:149210167-149210168
32 CP NM_000096.4(CP):c.2962G>A (p.Gly988Ser)SNV Pathogenic 42055 rs386134133 3:148895683-148895683 3:149177896-149177896
33 CP NM_000096.4(CP):c.548T>C (p.Ile183Thr)SNV Pathogenic 42056 rs386134123 3:148928013-148928013 3:149210226-149210226
34 CP NM_000096.4(CP):c.82A>T (p.Ile28Phe)SNV Pathogenic 42057 rs386134121 3:148939498-148939498 3:149221711-149221711
35 CP NM_000096.4(CP):c.2953A>G (p.Met985Val)SNV Pathogenic 42062 rs386134132 3:148895692-148895692 3:149177905-149177905
36 CP NM_000096.4(CP):c.587C>G (p.Pro196Arg)SNV Pathogenic 42119 rs386134124 3:148927974-148927974 3:149210187-149210187
37 CP NM_000096.4(CP):c.493C>G (p.Gln165Glu)SNV Pathogenic 42120 rs386134122 3:148928068-148928068 3:149210281-149210281
38 CP NM_000096.4(CP):c.2131C>A (p.Gln711Lys)SNV Pathogenic 42121 rs386134130 3:148903180-148903180 3:149185393-149185393
39 CP NM_000096.4(CP):c.643C>T (p.Arg215Ter)SNV Pathogenic 42122 rs386134155 3:148927136-148927136 3:149209349-149209349
40 CP NM_000096.4(CP):c.848G>C (p.Trp283Ser)SNV Pathogenic 42126 rs386134126 3:148925338-148925338 3:149207551-149207551
41 CP NM_000096.4(CP):c.1123T>C (p.Tyr375His)SNV Pathogenic 42128 rs386134128 3:148924040-148924040 3:149206253-149206253
42 CP NM_000096.4(CP):c.1209-2A>GSNV Pathogenic 42130 rs386134137 3:148920030-148920030 3:149202243-149202243
43 CP NM_000096.3(CP):c.1209_1210dupTG (p.Asp404Valfs)duplication Pathogenic 42131 rs386134138 3:148920026-148920027 3:149202239-149202240
44 CP NM_000096.4(CP):c.1257_1258del (p.Ser419_Tyr420insTer)deletion Pathogenic 42133 rs386134144 3:148919979-148919980 3:149202192-149202193
45 CP NM_000096.4(CP):c.146+1G>ASNV Pathogenic 42135 rs386134134 3:148939433-148939433 3:149221646-149221646
46 CP NM_000096.4(CP):c.1865-1G>ASNV Pathogenic 42139 rs386134139 3:148904520-148904520 3:149186733-149186733
47 CP NM_000096.4(CP):c.1918del (p.Asp640fs)deletion Pathogenic 42141 rs386134146 3:148904466-148904466 3:149186679-149186679
48 CP NM_000096.4(CP):c.2066del (p.Pro689fs)deletion Pathogenic 42143 rs386134147 3:148904318-148904318 3:149186531-149186531
49 CP NM_000096.4(CP):c.2068del (p.Asp690fs)deletion Pathogenic 42144 rs386134148 3:148904316-148904316 3:149186529-149186529
50 CP NM_000096.4(CP):c.2185del (p.Leu729fs)deletion Pathogenic 42147 rs587777922 3:148903126-148903126 3:149185339-149185339

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

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

# Name GO ID Score Top Affiliating Genes
1 response to amyloid-beta GO:1904645 8.96 DNM1 CACNA1A
2 adult walking behavior GO:0007628 8.8 NPC1 KCNJ10 CACNA1A

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

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 9.89 SURF1 SPART SLC2A1 SETX PTRH2 PMM2
2 nucleotide binding GO:0000166 9.23 SETX MFN2 KIF7 KIF1C KCNJ10 HARS1

Sources for Aceruloplasminemia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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