ACERULOP
MCID: ACR006
MIFTS: 73

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 58 12 77 25 54 26 60 76 38 15 39 41
Cerebellar Ataxia 58 39 12 30 13 6 45 15
Hypoceruloplasminemia 54 26 30 6
Hemosiderosis, Systemic, Due to Aceruloplasminemia 58 30 6
Familial Apoceruloplasmin Deficiency 54 26 74
Hereditary Ceruloplasmin Deficiency 54 26 60
Deficiency of Ferroxidase 26 30 6
Systemic Hemosiderosis Due to Aceruloplasminemia 54 26
Ceruloplasmin Deficiency 54 74
Hypoceruloplasminemia, Hereditary 58
Ceruloplasmin 13
Acerulop 76

Characteristics:

Orphanet epidemiological data:

60
aceruloplasminemia
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Japan),<1/1000000 (Worldwide); Age of onset: Adult; Age of death: elderly;

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
onset between age 30-50 years


HPO:

33
aceruloplasminemia:
Onset and clinical course adult onset
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Aceruloplasminemia

NIH Rare Diseases : 54 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. The drugs Mecasermin and Clonidine have been mentioned in the context of this disorder. Affiliated tissues include Adipose and Adipose, and related phenotypes are diabetes mellitus and tremor

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 : 26 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 : 76 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 : 77 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 737)
# Related Disease Score Top Affiliating Genes
1 autosomal dominant cerebellar ataxia 34.6 ATXN3 ATXN7 CACNA1A FXN PPP2R2B
2 autosomal recessive cerebellar ataxia 34.4 ATM FXN SETX
3 spinocerebellar ataxia 2 33.7 ATXN3 ATXN7 CACNA1A
4 spinocerebellar ataxia 12 33.5 ATXN3 ATXN7 CACNA1A PPP2R2B
5 spinocerebellar ataxia 1 33.5 ATXN3 ATXN7 CACNA1A
6 spinocerebellar ataxia 6 33.4 ATXN3 ATXN7 CACNA1A
7 machado-joseph disease 33.3 ATXN3 ATXN7 CACNA1A
8 spinocerebellar ataxia 31 33.2 ATXN3 ATXN7 CACNA1A SETX
9 spinocerebellar ataxia 17 33.1 ATXN3 ATXN7 CACNA1A
10 dentatorubral-pallidoluysian atrophy 33.0 ATXN3 ATXN7 CACNA1A PPP2R2B
11 spinocerebellar ataxia 18 32.8 ATXN3 ATXN7 CACNA1A
12 dystonia 31.2 NPC1 PANK2 PLA2G6 SLC2A1
13 friedreich ataxia 1 31.1 ABCB7 ATXN3 CACNA1A FXN SETX
14 desmoplastic infantile ganglioglioma 30.4 GFAP SYP
15 cerebellar disease 30.4 ATM ATXN3 ATXN7 CACNA1A PPP2R2B SETX
16 obstructive hydrocephalus 30.4 GFAP SYP
17 hemochromatosis, type 1 30.2 ABCB7 CP FXN
18 cerebellar ataxia, deafness, and narcolepsy, autosomal dominant 12.7
19 cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1 12.6
20 cerebellar ataxia and ectodermal dysplasia 12.6
21 myoclonus, cerebellar ataxia, and deafness 12.6
22 cerebellar ataxia, nonprogressive, with mental retardation 12.5
23 cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss 12.5
24 cerebellar ataxia, mental retardation, and dysequilibrium syndrome 3 12.5
25 cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss 12.5
26 cerebellar ataxia, cayman type 12.5
27 cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2 12.5
28 cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4 12.5
29 intellectual developmental disorder with or without epilepsy or cerebellar ataxia 12.5
30 cognitive impairment with or without cerebellar ataxia 12.5
31 cerebellar ataxia, neuropathy, and vestibular areflexia syndrome 12.5
32 cerebellar ataxia, mental retardation and dysequlibrium syndrome 12.5
33 renal tubulopathy, diabetes mellitus, and cerebellar ataxia due to duplication of mitochondrial dna 12.4
34 corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia 12.4
35 cerebellar ataxia, early-onset, with retained tendon reflexes 12.4
36 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia 12.3
37 cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome 12.3
38 spinocerebellar ataxia, autosomal recessive 8 12.3
39 gillespie syndrome 12.3
40 cerebellar ataxia and hypergonadotropic hypogonadism 12.3
41 autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome 12.2
42 branchial myoclonus with spastic paraparesis and cerebellar ataxia 12.2
43 cerebellar ataxia and neurosensory deafness 12.2
44 gordon holmes syndrome 12.2
45 brachydactyly-nystagmus-cerebellar ataxia 12.2
46 coenzyme q10 deficiency, primary, 4 12.2
47 cerebellar ataxia, benign, with thermoanalgesia 12.1
48 renal tubulopathy, diabetes mellitus, and cerebellar ataxia 12.1
49 autosomal recessive cerebellar ataxia with late-onset spasticity 12.1
50 spinocerebellar ataxia 13 12.1

Graphical network of the top 20 diseases related to Aceruloplasminemia:



Diseases related to Aceruloplasminemia

Symptoms & Phenotypes for Aceruloplasminemia

Human phenotypes related to Aceruloplasminemia:

60 33 (show all 29)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 diabetes mellitus 60 33 hallmark (90%) Very frequent (99-80%) HP:0000819
2 tremor 60 33 hallmark (90%) Very frequent (99-80%) HP:0001337
3 chorea 60 33 hallmark (90%) Very frequent (99-80%) HP:0002072
4 increased serum ferritin 60 33 hallmark (90%) Very frequent (99-80%) HP:0003281
5 decreased serum ceruloplasmin 60 33 hallmark (90%) Very frequent (99-80%) HP:0010837
6 refractory anemia 60 33 hallmark (90%) Very frequent (99-80%) HP:0005505
7 elevated hepatic iron concentration 60 33 hallmark (90%) Very frequent (99-80%) HP:0012465
8 retinal degeneration 33 hallmark (90%) HP:0000546
9 depressivity 60 33 frequent (33%) Frequent (79-30%) HP:0000716
10 ataxia 60 33 frequent (33%) Frequent (79-30%) HP:0001251
11 delayed speech and language development 60 33 frequent (33%) Frequent (79-30%) HP:0000750
12 hypertonia 60 33 frequent (33%) Frequent (79-30%) HP:0001276
13 dementia 60 33 frequent (33%) Frequent (79-30%) HP:0000726
14 blepharospasm 60 33 frequent (33%) Frequent (79-30%) HP:0000643
15 torticollis 60 33 frequent (33%) Frequent (79-30%) HP:0000473
16 parkinsonism 60 33 frequent (33%) Frequent (79-30%) HP:0001300
17 hypothyroidism 60 33 occasional (7.5%) Occasional (29-5%) HP:0000821
18 dysarthria 60 33 occasional (7.5%) Occasional (29-5%) HP:0001260
19 congestive heart failure 60 33 occasional (7.5%) Occasional (29-5%) HP:0001635
20 memory impairment 60 33 occasional (7.5%) Occasional (29-5%) HP:0002354
21 behavioral abnormality 60 Frequent (79-30%)
22 anemia 33 HP:0001903
23 abnormality of extrapyramidal motor function 33 HP:0002071
24 involuntary movements 60 Frequent (79-30%)
25 scanning speech 33 HP:0002168
26 cogwheel rigidity 33 HP:0002396
27 retinal lesions 60 Very frequent (99-80%)
28 decreased serum iron 33 HP:0040303
29 aceruloplasminemia 33 HP:0025498

Symptoms via clinical synopsis from OMIM:

58
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

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:

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 no effect GR00402-S-1 9.92 ABCB7 ATM ATXN3 ATXN7 CACNA1A CP
2 Decreased shRNA abundance GR00251-A-1 9.5 SOD2
3 Decreased shRNA abundance GR00251-A-2 9.5 SOD2
4 Decreased shRNA abundance GR00297-A 9.5 ABCB7 PANK2 PLA2G6 SLC2A1 SOD2

MGI Mouse Phenotypes related to Aceruloplasminemia:

47 (show all 11)
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.4 ATM ATXN3 ATXN7 CACNA1A CP DNM1
2 cellular MP:0005384 10.35 ABCB7 ATM CACNA1A CP DNM1 FXN
3 homeostasis/metabolism MP:0005376 10.33 ABCB7 ATM ATXN3 CACNA1A CP DNM1
4 growth/size/body region MP:0005378 10.27 ABCB7 ATM ATXN7 CACNA1A FXN GFAP
5 mortality/aging MP:0010768 10.17 ABCB7 ATM ATXN7 CACNA1A DNM1 FXN
6 hematopoietic system MP:0005397 10.13 ATM CACNA1A CP NPC1 PANK2 PLA2G6
7 immune system MP:0005387 10.11 ATM CACNA1A CP FXN GFAP NPC1
8 nervous system MP:0003631 10.09 ABCB7 ATM ATXN3 ATXN7 CACNA1A CP
9 muscle MP:0005369 9.86 ATXN7 CACNA1A FXN GFAP PANK2 PLA2G6
10 reproductive system MP:0005389 9.61 ATM ATXN7 CACNA1A NPC1 PANK2 PLA2G6
11 vision/eye MP:0005391 9.28 ATXN7 CACNA1A CP DNM1 GFAP NPC1

Drugs & Therapeutics for Aceruloplasminemia

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

(show top 50) (show all 405)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Mecasermin Approved, Investigational Phase 4 68562-41-4
2
Clonidine Approved Phase 4 4205-90-7 2803
3
Polyestradiol phosphate Approved Phase 4 28014-46-2
4
Estradiol Approved, Investigational, Vet_approved Phase 4 50-28-2 5757
5
Gabapentin Approved, Investigational Phase 4,Phase 3 60142-96-3 3446
6
Bupropion Approved Phase 4 34841-39-9, 34911-55-2 444
7
Dopamine Approved Phase 4,Not Applicable 62-31-7, 51-61-6 681
8
Citalopram Approved Phase 4,Phase 2 59729-33-8 2771
9
Metformin Approved Phase 4 657-24-9 14219 4091
10
Pioglitazone Approved, Investigational Phase 4,Phase 3 111025-46-8 4829
11
Amantadine Approved Phase 4 768-94-5 2130
12
Promethazine Approved, Investigational Phase 4,Phase 2 60-87-7 4927
13
Zolpidem Approved Phase 4,Phase 2 82626-48-0 5732
14
Phenylephrine Approved Phase 4 59-42-7 6041
15
Histamine Approved, Investigational Phase 4 51-45-6 774
16
Oxymetazoline Approved, Investigational Phase 4 1491-59-4 4636
17
Doxepin Approved, Investigational Phase 4 1668-19-5 667468 667477
18
Diphenhydramine Approved, Investigational Phase 4,Phase 2 147-24-0, 58-73-1 3100
19
Ethanol Approved Phase 4,Phase 3,Phase 1 64-17-5 702
20
Chlordiazepoxide Approved, Illicit, Investigational Phase 4 58-25-3 2712
21
leucovorin Approved Phase 4,Phase 2,Not Applicable,Early Phase 1 58-05-9 143 6006
22
Pyrimethamine Approved, Investigational, Vet_approved Phase 4 58-14-0 4993
23
Sulfamethoxazole Approved Phase 4 723-46-6 5329
24
Trimethoprim Approved, Vet_approved Phase 4 738-70-5 5578
25
Sulfadiazine Approved, Investigational, Vet_approved Phase 4 68-35-9 5215
26
Oxybutynin Approved, Investigational Phase 4 5633-20-5 4634
27
Acetylcholine Approved, Investigational Phase 4 51-84-3 187
28
Cefotaxime Approved Phase 4 63527-52-6 5742673 456256
29
Cefoxitin Approved Phase 4 35607-66-0 441199
30
Acetaminophen Approved Phase 4,Phase 1,Phase 2 103-90-2 1983
31
Folic Acid Approved, Nutraceutical, Vet_approved Phase 4,Phase 2,Phase 1,Not Applicable,Early Phase 1 59-30-3 6037
32 Adrenergic Agonists Phase 4,Phase 2
33 Estradiol 3-benzoate Phase 4
34 Adrenergic Agents Phase 4,Phase 2
35 Adrenergic alpha-Agonists Phase 4,Phase 2
36 Antihypertensive Agents Phase 4,Phase 2
37 Neurotransmitter Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
38 Hormone Antagonists Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1,Not Applicable
39 Mitogens Phase 4,Phase 2
40 Contraceptive Agents Phase 4
41 Estradiol 17 beta-cypionate Phase 4
42 Sympatholytics Phase 4
43 Analgesics Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
44 Insulin, Globin Zinc Phase 4
45 Peripheral Nervous System Agents Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1,Not Applicable
46 Autonomic Agents Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1,Not Applicable
47 arginine Phase 4
48 Hormones Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1,Not Applicable
49 insulin Phase 4
50 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1,Not Applicable

Interventional clinical trials:

(show top 50) (show all 374)
# Name Status NCT ID Phase Drugs
1 Status of Growth Hormone/ Insulin-like Growth Factor-1 (GH/IGF-1) Axis and Growth Failure in Ataxia Telangiectasia (AT) 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 Amantadine for Improving Neurologic Symptoms in Ataxia-Telangiectasia Completed NCT00950196 Phase 4 amantadine sulphate
5 Assess the Effect of Zolpidem, Silenor & Placebo on Arousability, Ataxia/Balance & Cognition in Healthy Volunteers Completed NCT02353299 Phase 4 Silenor 6 mg;zolpidem 10 mg;Placebo;Placebo
6 Gabapentin vs Chlordiazepoxide for Ambulatory Alcohol Withdrawal Completed NCT01573052 Phase 4 Chlordiazepoxide;Gabapentin
7 Treatment of Cerebral Toxoplasmosis in HIV/AIDS Completed NCT00367081 Phase 4 TMX-SMX (Bactrim(R));Pyrimethamine plus Sulfadiazine plus leucoverin
8 Erythropoietin in the Prevention of Acute Mountain Sickness Completed NCT01665781 Phase 4 Erythropoietin
9 Blinded, Randomized Study of Gabapentin (Neurontin®) and Gabapentin Enacarbil (Horizant™) in Restless Leg Syndrome Terminated NCT02117076 Phase 4 Gabapentin immediate release;Gabapentin enacarbil extended release
10 A Study to Compare Two Medications With an Inactive Medication and Look at the Effect on a Person's Mental Ability Completed NCT01126424 Phase 4 Solifenacin;Oxybutynin;Placebo
11 Neurotoxin and Physical Therapy Completed NCT02177617 Phase 4 Botox injection
12 Slow Initial β-lactam Infusion With High-dose Paracetamol to Improve the Outcomes of Childhood Bacterial Meningitis Completed NCT01540838 Phase 4 Infusion with paracetamol;Bolus without paracetamol
13 Oral Gabapentin in Management of Chronic Pelvic Pain in Females: A Randomised Placebo-controlled Study. Unknown status NCT02918760 Phase 3 Gabapentin
14 Efficacy of Riluzole in Hereditary Cerebellar Ataxia Completed NCT01104649 Phase 2, Phase 3 riluzole;Placebo comparator
15 Tllsh2910 for Ataxia and Gut Microbiota Alteration in Patients of Multiple System Atrophy Recruiting NCT03901638 Phase 3 Tllsh2910;Placebo
16 Clinical Trial With Riluzole in Spinocerebellar Ataxia Type 2 (ATRIL) Recruiting NCT03347344 Phase 3 Riluzole;Placebo
17 Safety, Tolerability and Efficacy of ACTIMMUNE® Dose Escalation in Friedreich's Ataxia Completed NCT02415127 Phase 3 Interferon γ-1b;Placebo
18 Study to Assess the Safety and Tolerability of Idebenone in the Treatment of Friedreich's Ataxia Patients Completed NCT00697073 Phase 3 Idebenone
19 A Study of Efficacy, Safety and Tolerability of Idebenone in the Treatment of Friedreich's Ataxia (FRDA) Patients Completed NCT00905268 Phase 3 idebenone;Placebo
20 Safety, Tolerability and Efficacy of ACTIMMUNE® Dose Escalation in Friedreich's Ataxia Study Completed NCT02593773 Phase 3 Interferon γ-1b
21 Study to Assess the Efficacy, Safety and Tolerability of Idebenone in the Treatment of Friedreich's Ataxia Completed NCT00537680 Phase 3 Idebenone;Idebenone;Placebo
22 Troriluzole in Adult Subjects With Spinocerebellar Ataxia Recruiting NCT03701399 Phase 3 troriluzole;Placebos
23 Pilot Study of Varenicline (Chantix®) in the Treatment of Friedreich's Ataxia Terminated NCT00803868 Phase 2, Phase 3 varenicline;placebo
24 Long-Term Safety and Tolerability of Idebenone in Friedreich's Ataxia Patients (MICONOS Extension) Completed NCT00993967 Phase 3 idebenone
25 Trial in Adult Subjects With Spinocerebellar Ataxia Active, not recruiting NCT02960893 Phase 2, Phase 3 BHV-4157;Placebo Comparator
26 An Open Pilot Trial of BHV-4157 Active, not recruiting NCT03408080 Phase 3 BHV-4157
27 Riluzole in Patients With Spinocerebellar Ataxia Type 7 Not yet recruiting NCT03660917 Phase 2, Phase 3 Riluzole;Placebo
28 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
29 Effect of Pioglitazone Administered to Patients With Friedreich's Ataxia: Proof of Concept Completed NCT00811681 Phase 3 pioglitazone;Placebo
30 Safety and Efficacy of Lithium Carbonate in Patients With Spinocerebellar Ataxia Type 3 Completed NCT01096082 Phase 2, Phase 3 Lithium Carbonate;Placebo
31 EDS in Ataxia Telangiectasia Patients Recruiting NCT02770807 Phase 3 EDS-EP dose range of ~5-10 mg DSP/infusion;EDS-EP dose range of ~14-22 mg DSP/infusion;Placebo
32 Patient Reported Outcomes in Friedreich's Ataxia Patients After Withdrawal From Treatment With Idebenone (PROTI) Completed NCT01303406 Phase 3 Idebenone;Placebo
33 Conjugate Pneumococcal Vaccine in Ataxia Telangiectasia (AT) Completed NCT00656409 Phase 3 Conjugated pneumococcal vaccine (Prevenar)
34 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
35 Evolution of Albumin on AOA1 Patients Supplemented With Coenzyme Q10 Completed NCT02333305 Phase 3
36 Cyclophosphamide and Prednisone With or Without Immunoglobulin in Treating Abnormal Muscle Movement in Children With Neuroblastoma Completed NCT00033293 Phase 3 cyclophosphamide;prednisone;Corticotropin-Releasing Hormone
37 Diaphragmatic Breathing and Heart Rate Variability Training for Improving Hypertension in Fragile X Associated Tremor/Ataxia Recruiting NCT03816540 Phase 3
38 A 24-week Open-label Study of KPS-0373 in Patients With Spinocerebellar Degeneration (SCD) Completed NCT01970137 Phase 3 KPS-0373, High dose;KPS-0373, Low dose
39 A Long-Term Study of KPS-0373 in Patients With Spinocerebellar Degeneration (SCD) Completed NCT01970124 Phase 3 KPS-0373, High dose;KPS-0373, Low dose
40 An Extension Study of KPS-0373 in Patients With Spinocerebellar Degeneration (SCD) Completed NCT01970111 Phase 3 KPS-0373, High dose;KPS-0373, Low dose
41 A Confirmatory Study of KPS-0373 in Patients With Spinocerebellar Degeneration (SCD) Completed NCT01970098 Phase 3 KPS-0373, High dose;KPS-0373, Low dose;Placebo
42 An Additional Confirmatory Study of KPS-0373 in Patients With Spinocerebellar Degeneration (SCD) Completed NCT02889302 Phase 3 KPS-0373;Placebo
43 A Clinical Trial for Inactivated Japanese Encephalitis Vaccine in Healthy Chinese Infants Completed NCT02367664 Phase 3
44 Postoperative Pain and Morphine Consumption After Mastectomy - Lyrica Completed NCT01391858 Phase 3 lyrica
45 Efficacy and Safety of the Iron Chelator Deferiprone in Parkinson's Disease Completed NCT00943748 Phase 2, Phase 3 deferiprone;placebo
46 Oral HYCAMTIN Plus Whole Brain Radiation Therapy In Treatment Of Brain Metastases Resulting From Non-Small Lung Cancer Completed NCT00390806 Phase 3 HYCAMTIN, oral capsules
47 Field Administration of Stroke Therapy - Magnesium (FAST-MAG) Trial Completed NCT00059332 Phase 3 Magnesium Sulfate;Normal Saline
48 Neuroprotectant for Hypertensive Intracerebral Hemorrhage Not yet recruiting NCT03546283 Phase 3 Placebos;Cattle Encephalon Glycoside and Ignotin
49 An Open-Label Long-Term Study Of Pregabalin For The Treatment Of Central Neuropathic Pain Completed NCT01202227 Phase 3 pregabalin
50 12-Month Efficacy and Safety of Diepalrestat in Adults With Diabetic Peripheral Neuropathy, a DB, Placebo-Controlled Study Completed NCT02332005 Phase 2, Phase 3 diepalrestat choline;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.

Cochrane evidence based reviews: cerebellar ataxia

Genetic Tests for Aceruloplasminemia

Genetic tests related to Aceruloplasminemia:

# Genetic test Affiliating Genes
1 Deficiency of Ferroxidase 30 CP
2 Hemosiderosis, Systemic, Due to Aceruloplasminemia 30
3 Hypoceruloplasminemia 30
4 Cerebellar Ataxia 30

Anatomical Context for Aceruloplasminemia

MalaCards organs/tissues related to Aceruloplasminemia:

42
Brain, Liver, Retina, Eye, Testes, Heart, Thyroid
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 1465)
# Title Authors Year
1
Aceruloplasminemia: Neurodegeneration with brain iron accumulation associated with psychosis. ( 30671987 )
2019
2
Clinical relevance of heterozygosis for aceruloplasminemia. ( 30901137 )
2019
3
Aceruloplasminemia: A Severe Neurodegenerative Disorder Deserving an Early Diagnosis. ( 31024241 )
2019
4
Quantification of trunk segmental coordination and head stability in laterally unstable sitting identifies aging and cerebellar ataxia. ( 30889431 )
2019
5
DNMT1-complex disorder caused by a novel mutation associated with an overlapping phenotype of autosomal-dominant cerebellar ataxia, deafness, and narcolepsy (ADCA-DN) and hereditary sensory neuropathy with dementia and hearing loss (HSN1E). ( 30911858 )
2019
6
Homozygous PCDH12 variants result in phenotype of cerebellar ataxia, dystonia, retinopathy, and dysmorphism. ( 30459466 )
2019
7
Mitochondrial cerebellar ataxia, renal failure, neuropathy, and encephalopathy (MCARNE). ( 31041396 )
2019
8
Relapsing encephalopathy with cerebellar ataxia are caused by variants involving p.Arg756 in ATP1A3. ( 30862413 )
2019
9
Gitelman syndrome presenting with cerebellar ataxia: a case report. ( 30756313 )
2019
10
Immune Mediated Cerebellar Ataxia: An Unknown Manifestation of Graft-versus-Host Disease. ( 30439710 )
2019
11
Paraneoplastic cerebellar ataxia in Merkel cell carcinoma of unknown primary. ( 31049380 )
2019
12
Anti-glutamic acid decarboxylase (GAD) positive cerebellar Ataxia with transitioning to progressive encephalomyelitis with rigidity and myoclonus (PERM), responsive to immunotherapy: A case report and review of literature. ( 31015081 )
2019
13
Whole-exome sequencing identifies rare compound heterozygous mutations in the MSTO1 gene associated with cerebellar ataxia and myopathy. ( 30684668 )
2019
14
Increased Diagnostic Yield of Spastic Paraplegia with or Without Cerebellar Ataxia Through Whole-Genome Sequencing. ( 31104286 )
2019
15
Dentate nucleus stimulation in a patient with cerebellar ataxia and tremor after cerebellar stroke: A long-term follow-up. ( 30297213 )
2019
16
Prevalence and phenotype of the c.1529C>T SPG7 variant in adult-onset cerebellar ataxia in Italy. ( 30098094 )
2019
17
Visuospatial Organization and Recall in Cerebellar Ataxia. ( 29949096 )
2019
18
Variant in SCYL1 gene causes aberrant splicing in a family with cerebellar ataxia, recurrent episodes of liver failure, and growth retardation. ( 30258122 )
2019
19
Sez6l2-antibody-associated progressive cerebellar ataxia: a differential diagnosis of atypical parkinsonism. ( 30460451 )
2019
20
Intersegmental coordination patterns are differently affected in Parkinson's disease and cerebellar ataxia. ( 30461364 )
2019
21
Erratum: Autoimmune Septin-5 Cerebellar Ataxia. ( 30588485 )
2019
22
Dental pulp stem cell transplantation ameliorates motor function and prevents cerebellar atrophy in rat model of cerebellar ataxia. ( 30635776 )
2019
23
Cerebellar ataxia associated with anti-glutamic acid decarboxylase antibodies: a case report. ( 30635801 )
2019
24
Cerebellar ataxia disease-associated Snx14 promotes lipid droplet growth at ER-droplet contacts. ( 30765438 )
2019
25
The Comprehensive Management of Cerebellar Ataxia in Adults. ( 30788613 )
2019
26
Quantitative assessment of cerebellar ataxia, through automated limb functional tests. ( 30813963 )
2019
27
Homozygosity mapping and whole exome sequencing reveal a novel ERCC8 mutation in a Chinese consanguineous family with unique cerebellar ataxia. ( 30871974 )
2019
28
Long term at-home treatment with transcranial direct current stimulation (tDCS) improves symptoms of cerebellar ataxia: a case report. ( 30890162 )
2019
29
Anti-Homer-3 antibody associated cerebellar ataxia: A rare case report and literature review. ( 30904736 )
2019
30
Acute cerebellar ataxia: differential diagnosis and clinical approach. ( 30970132 )
2019
31
Effects of repeated waist-pull perturbations on gait stability in subjects with cerebellar ataxia. ( 30975168 )
2019
32
Quantitative Evaluation of Cerebellar Ataxia through Automated Assessment of Upper Limb Movements. ( 30998474 )
2019
33
Does integrated cognitive and balance (dual-task) training improve balance and reduce falls risk in individuals with cerebellar ataxia? ( 31010491 )
2019
34
Heterozygous missense variants of SPTBN2 are a frequent cause of congenital cerebellar ataxia. ( 31066025 )
2019
35
Nocebo in cerebellar ataxia: A systematic review and meta-analysis of placebo-controlled clinical trials. ( 31075682 )
2019
36
Ion channel dysfunction in cerebellar ataxia. ( 29421541 )
2019
37
Ceruloplasmin replacement therapy ameliorates neurological symptoms in a preclinical model of aceruloplasminemia. ( 29183916 )
2018
38
Pancytopenia and Myelodysplastic Changes in Aceruloplasminemia: A Case with a Novel Pathogenic Variant in the Ceruloplasmin Gene. ( 29434149 )
2018
39
Phenotypic heterogeneity in seven Italian cases of aceruloplasminemia. ( 29503155 )
2018
40
Aceruloplasminemia and putaminal cavitation. ( 29534945 )
2018
41
Aceruloplasminemia with Abnormal Compound Heterozygous Mutations Developed Neurological Dysfunction during Phlebotomy Therapy. ( 29709961 )
2018
42
Aceruloplasminemia: Waiting for an Efficient Therapy. ( 30568573 )
2018
43
Dual Molecular Effects of Dominant RORA Mutations Cause Two Variants of Syndromic Intellectual Disability with Either Autism or Cerebellar Ataxia. ( 29656859 )
2018
44
Compound Heterozygous Inheritance of Mutations in Coenzyme Q8A Results in Autosomal Recessive Cerebellar Ataxia and Coenzyme Q10 Deficiency in a Female Sib-Pair. ( 29159460 )
2018
45
PEX10-related autosomal recessive cerebellar ataxia with hearing loss. ( 30022445 )
2018
46
SYNE1-related autosomal recessive cerebellar ataxia, congenital cerebellar hypoplasia, and cognitive impairment. ( 30275942 )
2018
47
Cerebellar ataxia as a first manifestation of Creutzfeldt-Jakob disease in two cousins. ( 29434023 )
2018
48
Myoclonus-dystonia and cerebellar ataxia in association with anti-glutamic acid decarboxylase autoimmunity. ( 30057216 )
2018
49
Novel De Novo KCND3 Mutation in a Japanese Patient with Intellectual Disability, Cerebellar Ataxia, Myoclonus, and Dystonia. ( 28895081 )
2018
50
Steroid-responsive Encephalopathy Associated with Autoimmune Thyroiditis (SREAT) Presenting with Pure Cerebellar Ataxia. ( 30191089 )
2018

Variations for Aceruloplasminemia

ClinVar genetic disease variations for Aceruloplasminemia:

6 (show top 50) (show all 1124)
# 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.2068delG (p.Asp690Thrfs) deletion Pathogenic rs386134148 GRCh37 Chromosome 3, 148904316: 148904316
22 CP NM_000096.3(CP): c.1918delG (p.Asp640Ilefs) deletion Pathogenic rs386134146 GRCh37 Chromosome 3, 148904466: 148904466
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.2065delC (p.Pro689Leufs) deletion Pathogenic rs386134147 GRCh38 Chromosome 3, 149186532: 149186532
26 CP NM_000096.3(CP): c.2068delG (p.Asp690Thrfs) deletion Pathogenic rs386134148 GRCh38 Chromosome 3, 149186529: 149186529
27 CP NM_000096.3(CP): c.146+1G> A single nucleotide variant Pathogenic rs386134134 GRCh37 Chromosome 3, 148939433: 148939433
28 CP NM_000096.3(CP): c.146+1G> A single nucleotide variant Pathogenic rs386134134 GRCh38 Chromosome 3, 149221646: 149221646
29 CP NM_000096.3(CP): c.2675G> A (p.Gly892Glu) single nucleotide variant Pathogenic rs386134131 GRCh38 Chromosome 3, 149178618: 149178618
30 CP NM_000096.3(CP): c.1865-1G> A single nucleotide variant Pathogenic rs386134139 GRCh37 Chromosome 3, 148904520: 148904520
31 CP NM_000096.3(CP): c.1865-1G> A single nucleotide variant Pathogenic rs386134139 GRCh38 Chromosome 3, 149186733: 149186733
32 CP NM_000096.3(CP): c.1049C> A (p.Ala350Asp) single nucleotide variant Pathogenic rs386134127 GRCh37 Chromosome 3, 148924114: 148924114
33 CP NM_000096.3(CP): c.1049C> A (p.Ala350Asp) single nucleotide variant Pathogenic rs386134127 GRCh38 Chromosome 3, 149206327: 149206327
34 CP NM_000096.3(CP): c.229G> C (p.Asp77His) single nucleotide variant Pathogenic rs200683433 GRCh37 Chromosome 3, 148930403: 148930403
35 CP NM_000096.3(CP): c.229G> C (p.Asp77His) single nucleotide variant Pathogenic rs200683433 GRCh38 Chromosome 3, 149212616: 149212616
36 CP NM_000096.3(CP): c.650T> C (p.Phe217Ser) single nucleotide variant Pathogenic rs386134125 GRCh37 Chromosome 3, 148927129: 148927129
37 CP NM_000096.3(CP): c.650T> C (p.Phe217Ser) single nucleotide variant Pathogenic rs386134125 GRCh38 Chromosome 3, 149209342: 149209342
38 CP NM_000096.3(CP): c.1874G> A (p.Gly625Glu) single nucleotide variant Pathogenic rs386134129 GRCh37 Chromosome 3, 148904510: 148904510
39 CP NM_000096.3(CP): c.1874G> A (p.Gly625Glu) single nucleotide variant Pathogenic rs386134129 GRCh38 Chromosome 3, 149186723: 149186723
40 CP NM_000096.3(CP): c.2675G> A (p.Gly892Glu) single nucleotide variant Pathogenic rs386134131 GRCh37 Chromosome 3, 148896405: 148896405
41 CP NM_000096.3(CP): c.2684G> C (p.Gly895Ala) single nucleotide variant Uncertain significance rs139633388 GRCh37 Chromosome 3, 148896396: 148896396
42 CP NM_000096.3(CP): c.2684G> C (p.Gly895Ala) single nucleotide variant Uncertain significance rs139633388 GRCh38 Chromosome 3, 149178609: 149178609
43 CP NM_000096.3(CP): c.2962G> A (p.Gly988Ser) single nucleotide variant Pathogenic rs386134133 GRCh37 Chromosome 3, 148895683: 148895683
44 CP NM_000096.3(CP): c.2962G> A (p.Gly988Ser) single nucleotide variant Pathogenic rs386134133 GRCh38 Chromosome 3, 149177896: 149177896
45 CP NM_000096.3(CP): c.548T> C (p.Ile183Thr) single nucleotide variant Pathogenic rs386134123 GRCh37 Chromosome 3, 148928013: 148928013
46 CP NM_000096.3(CP): c.548T> C (p.Ile183Thr) single nucleotide variant Pathogenic rs386134123 GRCh38 Chromosome 3, 149210226: 149210226
47 CP NM_000096.3(CP): c.82A> T (p.Ile28Phe) single nucleotide variant Pathogenic rs386134121 GRCh37 Chromosome 3, 148939498: 148939498
48 CP NM_000096.3(CP): c.82A> T (p.Ile28Phe) single nucleotide variant Pathogenic rs386134121 GRCh38 Chromosome 3, 149221711: 149221711
49 CP NM_000096.3(CP): c.2953A> G (p.Met985Val) single nucleotide variant Pathogenic rs386134132 GRCh37 Chromosome 3, 148895692: 148895692
50 CP NM_000096.3(CP): c.2953A> G (p.Met985Val) single nucleotide variant Pathogenic rs386134132 GRCh38 Chromosome 3, 149177905: 149177905

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:

38
# Name Kegg Source Accession
1 Ferroptosis hsa04216
2 Porphyrin and chlorophyll metabolism hsa00860

Pathways related to Aceruloplasminemia according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.25 CACNA1A DNM1 SYP
2 10.7 GFAP SLC2A1 SYP

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 9.23 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 cellular iron ion homeostasis GO:0006879 9.43 ABCB7 CP FXN
2 oxidative phosphorylation GO:0006119 9.32 FXN SURF1
3 response to amyloid-beta GO:1904645 9.16 CACNA1A DNM1
4 aerobic respiration GO:0009060 9.13 FXN PANK2 SURF1
5 adult walking behavior GO:0007628 8.8 CACNA1A FXN NPC1

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

# Name GO ID Score Top Affiliating Genes
1 identical protein binding GO:0042802 9.43 DNM1 GFAP SETX SLC2A1 SOD2 SYP
2 ferroxidase activity GO:0004322 8.62 CP FXN

Sources for Aceruloplasminemia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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