MCID: ACR006
MIFTS: 73

Aceruloplasminemia

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

Aliases & Classifications for Aceruloplasminemia

MalaCards integrated aliases for Aceruloplasminemia:

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

Characteristics:

Orphanet epidemiological data:

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

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset between age 30-50 years


HPO:

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


Classifications:



Summaries for Aceruloplasminemia

NIH Rare Diseases : 53 Aceruloplasminemia is a disorder of iron metabolism. This disorder causes iron to build-up in the body. Signs and symptoms begin in adulthood. People with this disorder tend to develop anemia and diabetes in their 20's. As the condition progresses, movement problems are common, such as tremors, chorea, ataxia, eyelid twitching, and grimacing. Some experience psychiatric problems and dementia in their 40's and 50's. Eye examination may reveal changes in the retina, but these changes typically do not affect vision. Aceruloplasminemia is caused by mutations in the CP gene and are inherited in an autosomal recessive fashion.

MalaCards based summary : Aceruloplasminemia, also known as cerebellar ataxia, is related to autosomal recessive cerebellar ataxia and autosomal dominant cerebellar ataxia, and has symptoms including ataxia, torticollis and cogwheel rigidity. An important gene associated with Aceruloplasminemia is CP (Ceruloplasmin), and among its related pathways/superpathways are Synaptic vesicle cycle and Neural Stem Cell Differentiation Pathways and Lineage-specific Markers. The drugs Clonidine and Estradiol have been mentioned in the context of this disorder. Affiliated tissues include Adipose and Adipose, and related phenotypes are depressivity and diabetes mellitus

Disease Ontology : 12 An iron metabolism disease that has material basis in a mutation in the ceruloplasmin gene characterized by progressive neurodegeneration of the retina and basal ganglia and diabetes mellitus.

Genetics Home Reference : 25 Aceruloplasminemia is a disorder in which iron gradually accumulates in the brain and other organs. Iron accumulation in the brain results in neurological problems that generally appear in adulthood and worsen over time.

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

Wikipedia : 76 Aceruloplasminemia is a rare autosomal recessive disorder in which iron gradually accumulates in 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 268)
# Related Disease Score Top Affiliating Genes
1 autosomal recessive cerebellar ataxia 34.9 ATM FXN SETX
2 autosomal dominant cerebellar ataxia 34.8 ATXN3 ATXN7 CACNA1A FXN PPP2R2B
3 spinocerebellar ataxia 2 34.2 ATXN3 ATXN7 CACNA1A
4 spinocerebellar ataxia 1 33.9 ATXN3 ATXN7 CACNA1A
5 spinocerebellar ataxia 12 33.9 ATXN3 ATXN7 CACNA1A PPP2R2B
6 machado-joseph disease 33.8 ATXN3 ATXN7 CACNA1A
7 spinocerebellar ataxia 6 33.8 ATXN3 ATXN7 CACNA1A
8 dentatorubral-pallidoluysian atrophy 33.4 ATXN3 ATXN7 CACNA1A PPP2R2B
9 spinocerebellar ataxia 31 33.1 ATXN3 ATXN7 CACNA1A SETX
10 spinocerebellar ataxia 18 33.1 ATXN3 ATXN7 CACNA1A
11 spinocerebellar ataxia 17 33.1 ATXN3 ATXN7 CACNA1A
12 anemia, sideroblastic, and spinocerebellar ataxia 32.6 ABCB7 FXN
13 neurodegeneration with brain iron accumulation 31.4 FA2H PANK2 PLA2G6
14 cerebellar ataxia, deafness, and narcolepsy, autosomal dominant 12.5
15 cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1 12.4
16 cerebellar ataxia and ectodermal dysplasia 12.3
17 cerebellar ataxia, mental retardation, and dysequilibrium syndrome 3 12.3
18 cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss 12.3
19 myoclonus, cerebellar ataxia, and deafness 12.3
20 cerebellar ataxia, cayman type 12.3
21 cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2 12.3
22 cerebellar ataxia, nonprogressive, with mental retardation 12.3
23 cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4 12.3
24 cerebellar ataxia, neuropathy, and vestibular areflexia syndrome 12.3
25 cognitive impairment with or without cerebellar ataxia 12.3
26 cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss 12.2
27 corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia 12.2
28 cerebellar ataxia, early-onset, with retained tendon reflexes 12.2
29 cerebellar ataxia, mental retardation and dysequlibrium syndrome 12.2
30 renal tubulopathy, diabetes mellitus, and cerebellar ataxia due to duplication of mitochondrial dna 12.1
31 cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome 12.1
32 spinocerebellar ataxia, autosomal recessive 8 12.1
33 gillespie syndrome 12.1
34 autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome 12.0
35 cerebellar ataxia and neurosensory deafness 12.0
36 syne1-related autosomal recessive cerebellar ataxia 12.0
37 gordon holmes syndrome 12.0
38 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia 12.0
39 brachydactyly-nystagmus-cerebellar ataxia 12.0
40 cerebellar ataxia, benign, with thermoanalgesia 11.9
41 renal tubulopathy, diabetes mellitus, and cerebellar ataxia 11.9
42 cerebellar ataxia and hypergonadotropic hypogonadism 11.9
43 autosomal recessive cerebellar ataxia with late-onset spasticity 11.9
44 ataxia-oculomotor apraxia 3 11.9
45 branchial myoclonus with spastic paraparesis and cerebellar ataxia 11.9
46 laryngeal abductor paralysis with cerebellar ataxia and motor neuropathy 11.9
47 spinocerebellar ataxia 7 11.9
48 spinocerebellar ataxia 13 11.9
49 coenzyme q10 deficiency, primary, 4 11.8
50 short-rib thoracic dysplasia 9 with or without polydactyly 11.8

Graphical network of the top 20 diseases related to Aceruloplasminemia:



Diseases related to Aceruloplasminemia

Symptoms & Phenotypes for Aceruloplasminemia

Symptoms via clinical synopsis from OMIM:

57
Endocrine Features:
diabetes mellitus

Head And Neck Eyes:
blepharospasm
retinal degeneration

Hematology:
mild anemia

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


Clinical features from OMIM:

604290

Human phenotypes related to Aceruloplasminemia:

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

UMLS symptoms related to Aceruloplasminemia:


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

MGI Mouse Phenotypes related to Aceruloplasminemia:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.38 SYP SURF1 DNM1 ATXN3 ATXN7 FA2H
2 cellular MP:0005384 10.3 SLC2A1 SURF1 DNM1 FXN CACNA1A ABCB7
3 homeostasis/metabolism MP:0005376 10.27 SLC2A1 SURF1 DNM1 ATXN3 FA2H FXN
4 growth/size/body region MP:0005378 10.21 SLC2A1 SURF1 ATM ATXN7 FXN CACNA1A
5 hematopoietic system MP:0005397 10.1 CP ATM ATXN3 CACNA1A PPP2R2B NPC1
6 mortality/aging MP:0010768 10.07 SLC2A1 SURF1 DNM1 ATXN7 FXN CACNA1A
7 immune system MP:0005387 10.02 CP ATM CACNA1A GFAP PLA2G6 NPC1
8 nervous system MP:0003631 9.89 SURF1 SYP DNM1 ATXN3 ATXN7 FA2H
9 muscle MP:0005369 9.7 ATXN7 CACNA1A PLA2G6 PTRH2 PANK2 FXN
10 vision/eye MP:0005391 9.28 DNM1 ATXN7 FA2H CACNA1A CP NPC1

Drugs & Therapeutics for Aceruloplasminemia

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

(show top 50) (show all 354)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Clonidine Approved Phase 4 4205-90-7 2803
2
Estradiol Approved, Investigational, Vet_approved Phase 4 50-28-2 5757
3 Estradiol valerate Approved, Investigational, Vet_approved Phase 4 979-32-8
4
Polyestradiol phosphate Approved Phase 4 28014-46-2
5
gamma-Aminobutyric acid Approved, Investigational Phase 4,Phase 3,Not Applicable 56-12-2 119
6
Bupropion Approved Phase 4 34841-39-9, 34911-55-2 444
7
Citalopram Approved Phase 4 59729-33-8 2771
8
Dopamine Approved Phase 4,Not Applicable 51-61-6, 62-31-7 681
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
Doxepin Approved, Investigational Phase 4 1668-19-5 667477 667468
13
Histamine Approved, Investigational Phase 4 75614-87-8, 51-45-6 774
14
Oxymetazoline Approved, Investigational Phase 4 1491-59-4 4636
15
Phenylephrine Approved Phase 4 59-42-7 6041
16
Zolpidem Approved Phase 4,Phase 2 82626-48-0 5732
17
Chlordiazepoxide Approved, Illicit, Investigational Phase 4 58-25-3 2712
18
Ethanol Approved Phase 4,Phase 3 64-17-5 702
19
Gabapentin Approved, Investigational Phase 4,Phase 3 60142-96-3 3446
20
Pyrimethamine Approved, Investigational, Vet_approved Phase 4 58-14-0 4993
21
Sulfadiazine Approved, Investigational, Vet_approved Phase 4 68-35-9 5215
22
Sulfamethoxazole Approved Phase 4 723-46-6 5329
23
Trimethoprim Approved, Vet_approved Phase 4 738-70-5 5578
24
Oxybutynin Approved, Investigational Phase 4 5633-20-5 4634
25
Acetylcholine Approved Phase 4 51-84-3 187
26
Acetaminophen Approved Phase 4 103-90-2 1983
27
Cefotaxime Approved Phase 4 63527-52-6 456256 5742673
28
Cefoxitin Approved Phase 4 35607-66-0 441199
29
Folic Acid Approved, Nutraceutical, Vet_approved Phase 4,Phase 2,Not Applicable,Early Phase 1 59-30-3 6037
30
leucovorin Approved, Nutraceutical Phase 4,Not Applicable,Early Phase 1 58-05-9 143 6006
31 Adrenergic Agents Phase 4
32 Adrenergic Agonists Phase 4
33 Adrenergic alpha-2 Receptor Agonists Phase 4
34 Adrenergic alpha-Agonists Phase 4
35 Analgesics Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable
36 Antihypertensive Agents Phase 4,Phase 2
37 Autonomic Agents Phase 4,Phase 3,Phase 2,Early Phase 1,Not Applicable
38 Contraceptive Agents Phase 4
39 Estradiol 17 beta-cypionate Phase 4
40 Estradiol 3-benzoate Phase 4
41 Estrogens Phase 4
42 Hormone Antagonists Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1,Not Applicable
43 Hormones Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1,Not Applicable
44 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1,Not Applicable
45 insulin Phase 4
46 Insulin, Globin Zinc Phase 4
47 Mitogens Phase 4,Phase 2
48 Neurotransmitter Agents Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
49 Peripheral Nervous System Agents Phase 4,Phase 3,Phase 1,Phase 2,Early Phase 1,Not Applicable
50 Sympatholytics Phase 4

Interventional clinical trials:

(show top 50) (show all 310)
# 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 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
10 Neurotoxin and Physical Therapy Completed NCT02177617 Phase 4 Botox injection
11 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
12 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
13 12-Month Efficacy and Safety of Diepalrestat in Adults With Diabetic Peripheral Neuropathy, a DB, Placebo-Controlled Study Unknown status NCT02332005 Phase 2, Phase 3 diepalrestat choline;Placebo
14 Efficacy of Riluzole in Hereditary Cerebellar Ataxia Completed NCT01104649 Phase 2, Phase 3 riluzole;Placebo comparator
15 Safety, Tolerability and Efficacy of ACTIMMUNE® Dose Escalation in Friedreich's Ataxia Completed NCT02415127 Phase 3 Interferon γ-1b;Placebo
16 Study to Assess the Safety and Tolerability of Idebenone in the Treatment of Friedreich's Ataxia Patients Completed NCT00697073 Phase 3 Idebenone
17 A Study of Efficacy, Safety and Tolerability of Idebenone in the Treatment of Friedreich's Ataxia (FRDA) Patients Completed NCT00905268 Phase 3 idebenone;Placebo
18 Safety, Tolerability and Efficacy of ACTIMMUNE® Dose Escalation in Friedreich's Ataxia Study Completed NCT02593773 Phase 3 Interferon γ-1b
19 Study to Assess the Efficacy, Safety and Tolerability of Idebenone in the Treatment of Friedreich's Ataxia Completed NCT00537680 Phase 3 Idebenone;Idebenone;Placebo
20 Long-Term Safety and Tolerability of Idebenone in Friedreich's Ataxia Patients (MICONOS Extension) Completed NCT00993967 Phase 3 idebenone
21 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
22 Effect of Pioglitazone Administered to Patients With Friedreich's Ataxia: Proof of Concept Completed NCT00811681 Phase 3 pioglitazone;Placebo
23 Safety and Efficacy of Lithium Carbonate in Patients With Spinocerebellar Ataxia Type 3 Completed NCT01096082 Phase 2, Phase 3 Lithium Carbonate;Placebo
24 Patient Reported Outcomes in Friedreich's Ataxia Patients After Withdrawal From Treatment With Idebenone (PROTI) Completed NCT01303406 Phase 3 Idebenone;Placebo
25 Conjugate Pneumococcal Vaccine in Ataxia Telangiectasia (AT) Completed NCT00656409 Phase 3 Conjugated pneumococcal vaccine (Prevenar)
26 Evolution of Albumin on AOA1 Patients Supplemented With Coenzyme Q10 Completed NCT02333305 Phase 3
27 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
28 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
29 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
30 An Extension Study of KPS-0373 in Patients With Spinocerebellar Degeneration (SCD) Completed NCT01970111 Phase 3 KPS-0373, High dose;KPS-0373, Low dose
31 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
32 A Clinical Trial for Inactivated Japanese Encephalitis Vaccine in Healthy Chinese Infants Completed NCT02367664 Phase 3
33 Postoperative Pain and Morphine Consumption After Mastectomy - Lyrica Completed NCT01391858 Phase 3 lyrica
34 Efficacy and Safety of the Iron Chelator Deferiprone in Parkinson's Disease Completed NCT00943748 Phase 2, Phase 3 deferiprone;placebo
35 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
36 Field Administration of Stroke Therapy - Magnesium (FAST-MAG) Trial Completed NCT00059332 Phase 3 Magnesium Sulfate;Normal Saline
37 An Open-Label Long-Term Study Of Pregabalin For The Treatment Of Central Neuropathic Pain Completed NCT01202227 Phase 3 pregabalin
38 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
39 Oral Gabapentin in Management of Chronic Pelvic Pain in Females: A Randomised Placebo-controlled Study. Recruiting NCT02918760 Phase 3 Gabapentin
40 App Based Dexterity Training in Multiple Sclerosis Recruiting NCT03369470 Phase 3
41 International Society of Paediatric Oncology (SIOP) PNET 5 Medulloblastoma Recruiting NCT02066220 Phase 2, Phase 3 Reduced-intensity maintenance chemotherapy;Maintenance chemotherapy
42 Trial in Adult Subjects With Spinocerebellar Ataxia Active, not recruiting NCT02960893 Phase 2, Phase 3 BHV-4157;Placebo Comparator
43 An Open Pilot Trial of BHV-4157 Active, not recruiting NCT03408080 Phase 3 BHV-4157
44 An Additional Confirmatory Study of KPS-0373 in Patients With Spinocerebellar Degeneration (SCD) Active, not recruiting NCT02889302 Phase 3 KPS-0373;Placebo
45 Clinical Trial With Riluzole in Spinocerebellar Ataxia Type 2 (ATRIL) Not yet recruiting NCT03347344 Phase 3 Riluzole;Placebo
46 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 Not yet recruiting NCT03563053 Phase 3
47 Neuroprotectant for Hypertensive Intracerebral Hemorrhage Not yet recruiting NCT03546283 Phase 3 Placebos;Cattle Encephalon Glycoside and Ignotin
48 Pilot Study of Varenicline (Chantix®) in the Treatment of Friedreich's Ataxia Terminated NCT00803868 Phase 2, Phase 3 varenicline;placebo
49 Clinical Study to Evaluate the Safety and Efficacy BMMNC in Cerebellar Ataxia Unknown status NCT01958177 Phase 1, Phase 2
50 A New Method to Treat Hereditary Cerebellar Ataxia - Umbilical Cord Mesenchymal Stem Cells Transplantation Unknown status NCT01489267 Phase 2

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:

41
Brain, Retina, Eye, Testes, Liver, Pancreas, Bone
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 899)
# Title Authors Year
1
A novel inborn error of the coenzyme Q10 biosynthesis pathway: cerebellar ataxia and static encephalomyopathy due to COQ5 C-methyltransferase deficiency. ( 29044765 )
2018
2
Identification of specific gait patterns in patients with cerebellar ataxia, spastic paraplegia, and Parkinson's disease: A non-hierarchical cluster analysis. ( 28967438 )
2018
3
Clinical Reasoning: Progressive cognitive decline, cerebellar ataxia, recurrent myoclonus, and epilepsy. ( 29760005 )
2018
4
Cerebellar Ataxia With Neuropathy and Vestibular Areflexia Syndrome Presenting With Neurotrophic Keratopathy. ( 29474200 )
2018
5
Aceruloplasminemia and putaminal cavitation. ( 29534945 )
2018
6
Phenotypic heterogeneity in seven Italian cases of aceruloplasminemia. ( 29503155 )
2018
7
Novel mutations in the ALDH18A1 gene in complicated hereditary spastic paraplegia with cerebellar ataxia and cognitive impairment. ( 29915212 )
2018
8
Acute Cerebellar Ataxia Associated with Anti-glutamic Acid Decarboxylase Antibodies Mimicking Miller Fisher Syndrome. ( 29093402 )
2018
9
A Aceruloplasminemia Patient with Abnormal Compound Heterozygous Mutations Who Developed Neurological Dysfunction during Phlebotomy Therapy: A Case Report. ( 29709961 )
2018
10
Ceruloplasmin replacement therapy ameliorates neurological symptoms in a preclinical model ofA aceruloplasminemia. ( 29183916 )
2018
11
Lambert-Eaton myasthenic syndrome and cerebellar ataxia: Is response to immunotherapy a clue to pathogenesis? ( 29365352 )
2018
12
Pancytopenia and Myelodysplastic Changes in Aceruloplasminemia: A Case with a Novel Pathogenic Variant in the Ceruloplasmin Gene. ( 29434149 )
2018
13
Dual Molecular Effects of Dominant RORA Mutations Cause Two Variants of Syndromic Intellectual Disability with Either Autism or Cerebellar Ataxia. ( 29656859 )
2018
14
Cerebellar ataxia as a first manifestation of Creutzfeldt-Jakob disease in two cousins. ( 29434023 )
2018
15
Superficial bedside brain biopsy can be a safe and practical approach to confirm a rare form of prion disease in cerebellar ataxia: A case study. ( 28320192 )
2017
16
Can Therapeutic-Range Chronic Phenytoin Administration Cause Cerebellar Ataxia? ( 28775951 )
2017
17
SLC25A46 Mutations Associated with Autosomal Recessive Cerebellar Ataxia in North African Families. ( 28558379 )
2017
18
Clinical characteristics of patients with cerebellar ataxia associated with anti-GAD antibodies. ( 28355320 )
2017
19
From dizziness to severe ataxia and dysarthria: New cases of anti-Ca/ARHGAP26 autoantibody-associated cerebellar ataxia suggest a broad clinical spectrum. ( 28601293 )
2017
20
Paraneoplastic cerebellar ataxia with central hypoventilation. ( 27990459 )
2017
21
De novo p.T362R mutation in MORC2 causes early onset cerebellar ataxia, axonal polyneuropathy and nocturnal hypoventilation. ( 28402445 )
2017
22
Supporting a Youth with Cerebellar Ataxia into Adolescence. ( 28323747 )
2017
23
Progressive hearing loss and cerebellar ataxia in anti-Ma2-associated autoimmune encephalitis. ( 28099568 )
2017
24
The Resection of Thyroid Cancer Was Associated with the Resolution of Hyporesponsiveness to an Erythropoiesis-stimulating Agent in a Hemodialysis Patient with Aceruloplasminemia. ( 28381747 )
2017
25
Autosomal Recessive Cerebellar Ataxia type 1 mimicking multiple sclerosis: A report of two siblings with a novel mutation in SYNE1 gene in a Saudi family. ( 28017257 )
2017
26
Comparison of imaging using (11)C-ITMM and (18)F-FDG for the detection of cerebellar ataxia. ( 28320199 )
2017
27
Cerebellar ataxia associated with anti-glutamic acid decarboxylase (anti-GAD) autoantibodies: a rare and puzzling disease. ( 28355318 )
2017
28
A SINE Insertion in ATP1B2 in Belgian Shepherd Dogs Affected by Spongy Degeneration with Cerebellar Ataxia (SDCA2). ( 28620085 )
2017
29
Different subregional metabolism patterns in patients with cerebellar ataxia by 18F-fluorodeoxyglucose positron emission tomography. ( 28319124 )
2017
30
VEMPs in a patient with cerebellar ataxia, neuropathy and vestibular areflexia (CANVAS). ( 28566187 )
2017
31
Adult Onset Sporadic Cerebellar Ataxia in Singapore: Diagnostic Outcomes of Paraneoplastic Antibody Testing and Early Clinical Features of Paraneoplastic Cerebellar Degeneration. ( 28417137 )
2017
32
Xeroderma pigmentosum complementation group F: A rare cause of cerebellar ataxia with chorea. ( 28431612 )
2017
33
Effects of acetyl-DL-leucine on cerebellar ataxia (ALCAT trial): study protocol for a multicenter, multinational, randomized, double-blind, placebo-controlled, crossover phase III trial. ( 28068987 )
2017
34
The c-Abl inhibitor, nilotinib, as a potential therapeutic agent for chronic cerebellar ataxia. ( 28601294 )
2017
35
Progressive Supranuclear Gaze Palsy with Predominant Cerebellar Ataxia: A Case Series with Videos. ( 28415165 )
2017
36
The meanings of physiotherapy and exercise for people living with progressive cerebellar ataxia: an interpretative phenomenological analysis. ( 28166646 )
2017
37
Cerebellar ataxia and sensory ganglionopathy associated with light-chain myeloma. ( 28074147 )
2017
38
Longitudinal analysis of motor symptoms and histopathology in woozy mice, a model of cerebellar ataxia. ( 28723727 )
2017
39
TGM6 gene mutations in undiagnosed cerebellar ataxia patients. ( 28927799 )
2017
40
West Nile virus (WNV) presenting as acute cerebellar ataxia in an immunocompetent patient. ( 28377090 )
2017
41
A panel study on patients with dominant cerebellar ataxia highlights the frequency of channelopathies. ( 28444220 )
2017
42
Harmony as a convergence attractor that minimizes the energy expenditure and variability in physiological gait and the loss of harmony in cerebellar ataxia. ( 28704694 )
2017
43
Homozygous c.359del variant in MGME1 is associated with early onset cerebellar ataxia. ( 28711739 )
2017
44
Compound Heterozygous Inheritance of Mutations in Coenzyme Q8A Results in Autosomal Recessive Cerebellar Ataxia and Coenzyme Q<sub>10</sub>Deficiency in a Female Sib-Pair. ( 29159460 )
2017
45
Clinical exome sequencing for cerebellar ataxia and spastic paraplegia uncovers novel gene-disease associations and unanticipated rare disorders. ( 28179632 )
2017
46
Preventive motor training but not progenitor grafting ameliorates cerebellar ataxia and deregulated autophagy in tambaleante mice. ( 28237314 )
2017
47
Cerebellar ataxia and obstructive hydrocephalus, rare neurologic presentations in patients with systemic lupus erythematosus. ( 28707035 )
2017
48
A novel frameshift mutation of<i>SYNE1</i>in a Japanese family with autosomal recessive cerebellar ataxia type 8. ( 29081981 )
2017
49
Recent advances in modelling of cerebellar ataxia using induced pluripotent stem cells. ( 28825058 )
2017
50
Cerebellar ataxia and intrathecal baclofen therapy: Focus on patientsA' experiences. ( 28654671 )
2017

Variations for Aceruloplasminemia

ClinVar genetic disease variations for Aceruloplasminemia:

6
(show top 50) (show all 949)
# Gene Variation Type Significance SNP ID Assembly Location
1 MT-ATP6 m.8993T> G single nucleotide variant Pathogenic rs199476133 GRCh37 Chromosome MT, 8993: 8993
2 MT-ATP6 m.8993T> G single nucleotide variant Pathogenic rs199476133 GRCh38 Chromosome MT, 8993: 8993
3 SURF1 NM_003172.3(SURF1): c.845_846delCT (p.Ser282Cysfs) deletion Pathogenic rs782316919 GRCh37 Chromosome 9, 136218825: 136218826
4 SURF1 NM_003172.3(SURF1): c.845_846delCT (p.Ser282Cysfs) deletion Pathogenic rs782316919 GRCh38 Chromosome 9, 133351970: 133351971
5 CP NM_000096.3(CP): c.3019-1G> A single nucleotide variant Pathogenic rs386134142 GRCh37 Chromosome 3, 148894200: 148894200
6 CP NM_000096.3(CP): c.3019-1G> A single nucleotide variant Pathogenic rs386134142 GRCh38 Chromosome 3, 149176413: 149176413
7 CP NM_000096.3(CP): c.2389delG (p.Glu797Argfs) deletion Pathogenic rs386134149 GRCh37 Chromosome 3, 148901289: 148901289
8 CP NM_000096.3(CP): c.2389delG (p.Glu797Argfs) deletion Pathogenic rs386134149 GRCh38 Chromosome 3, 149183502: 149183502
9 CP NM_000096.3(CP): c.1286_1287insTACAC (p.Asp430Thrfs) insertion Pathogenic rs386134145 GRCh37 Chromosome 3, 148919950: 148919951
10 CP NM_000096.3(CP): c.1286_1287insTACAC (p.Asp430Thrfs) insertion Pathogenic rs386134145 GRCh38 Chromosome 3, 149202163: 149202164
11 CP NM_000096.3(CP): c.2630G> A (p.Trp877Ter) single nucleotide variant Pathogenic rs121909579 GRCh37 Chromosome 3, 148897374: 148897374
12 CP NM_000096.3(CP): c.2630G> A (p.Trp877Ter) single nucleotide variant Pathogenic rs121909579 GRCh38 Chromosome 3, 149179587: 149179587
13 CP NM_000096.3(CP): c.606dupA (p.Asp203Argfs) duplication Pathogenic rs386134143 GRCh37 Chromosome 3, 148927955: 148927955
14 CP NM_000096.3(CP): c.606dupA (p.Asp203Argfs) duplication Pathogenic rs386134143 GRCh38 Chromosome 3, 149210168: 149210168
15 MLC1 NM_015166.3(MLC1): c.178-10T> A single nucleotide variant Likely pathogenic rs80358243 GRCh37 Chromosome 22, 50521612: 50521612
16 MLC1 NM_015166.3(MLC1): c.178-10T> A single nucleotide variant Likely pathogenic rs80358243 GRCh38 Chromosome 22, 50083183: 50083183
17 CP NM_000096.3(CP): c.1874G> A (p.Gly625Glu) single nucleotide variant Pathogenic rs386134129 GRCh38 Chromosome 3, 149186723: 149186723
18 CP NM_000096.3(CP): c.2675G> A (p.Gly892Glu) single nucleotide variant Pathogenic rs386134131 GRCh37 Chromosome 3, 148896405: 148896405
19 CP NM_000096.3(CP): c.2675G> A (p.Gly892Glu) single nucleotide variant Pathogenic rs386134131 GRCh38 Chromosome 3, 149178618: 149178618
20 CP NM_000096.3(CP): c.1049C> A (p.Ala350Asp) single nucleotide variant Pathogenic rs386134127 GRCh37 Chromosome 3, 148924114: 148924114
21 CP NM_000096.3(CP): c.1049C> A (p.Ala350Asp) single nucleotide variant Pathogenic rs386134127 GRCh38 Chromosome 3, 149206327: 149206327
22 CP NM_000096.3(CP): c.229G> C (p.Asp77His) single nucleotide variant Pathogenic rs200683433 GRCh37 Chromosome 3, 148930403: 148930403
23 CP NM_000096.3(CP): c.229G> C (p.Asp77His) single nucleotide variant Pathogenic rs200683433 GRCh38 Chromosome 3, 149212616: 149212616
24 CP NM_000096.3(CP): c.650T> C (p.Phe217Ser) single nucleotide variant Pathogenic rs386134125 GRCh37 Chromosome 3, 148927129: 148927129
25 CP NM_000096.3(CP): c.650T> C (p.Phe217Ser) single nucleotide variant Pathogenic rs386134125 GRCh38 Chromosome 3, 149209342: 149209342
26 CP NM_000096.3(CP): c.1874G> A (p.Gly625Glu) single nucleotide variant Pathogenic rs386134129 GRCh37 Chromosome 3, 148904510: 148904510
27 CP NM_000096.3(CP): c.2962G> A (p.Gly988Ser) single nucleotide variant Pathogenic rs386134133 GRCh37 Chromosome 3, 148895683: 148895683
28 CP NM_000096.3(CP): c.2962G> A (p.Gly988Ser) single nucleotide variant Pathogenic rs386134133 GRCh38 Chromosome 3, 149177896: 149177896
29 CP NM_000096.3(CP): c.548T> C (p.Ile183Thr) single nucleotide variant Pathogenic rs386134123 GRCh37 Chromosome 3, 148928013: 148928013
30 CP NM_000096.3(CP): c.548T> C (p.Ile183Thr) single nucleotide variant Pathogenic rs386134123 GRCh38 Chromosome 3, 149210226: 149210226
31 CP NM_000096.3(CP): c.82A> T (p.Ile28Phe) single nucleotide variant Pathogenic rs386134121 GRCh37 Chromosome 3, 148939498: 148939498
32 CP NM_000096.3(CP): c.82A> T (p.Ile28Phe) single nucleotide variant Pathogenic rs386134121 GRCh38 Chromosome 3, 149221711: 149221711
33 CP NM_000096.3(CP): c.2953A> G (p.Met985Val) single nucleotide variant Pathogenic rs386134132 GRCh37 Chromosome 3, 148895692: 148895692
34 CP NM_000096.3(CP): c.2953A> G (p.Met985Val) single nucleotide variant Pathogenic rs386134132 GRCh38 Chromosome 3, 149177905: 149177905
35 CP NM_000096.3(CP): c.1257_1258delTT (p.Tyr420Terfs) deletion Pathogenic rs386134144 GRCh38 Chromosome 3, 149202192: 149202193
36 CP NM_000096.3(CP): c.146+1G> A single nucleotide variant Pathogenic rs386134134 GRCh37 Chromosome 3, 148939433: 148939433
37 CP NM_000096.3(CP): c.587C> G (p.Pro196Arg) single nucleotide variant Pathogenic rs386134124 GRCh37 Chromosome 3, 148927974: 148927974
38 CP NM_000096.3(CP): c.587C> G (p.Pro196Arg) single nucleotide variant Pathogenic rs386134124 GRCh38 Chromosome 3, 149210187: 149210187
39 CP NM_000096.3(CP): c.493C> G (p.Gln165Glu) single nucleotide variant Pathogenic rs386134122 GRCh37 Chromosome 3, 148928068: 148928068
40 CP NM_000096.3(CP): c.493C> G (p.Gln165Glu) single nucleotide variant Pathogenic rs386134122 GRCh38 Chromosome 3, 149210281: 149210281
41 CP NM_000096.3(CP): c.2131C> A (p.Gln711Lys) single nucleotide variant Pathogenic rs386134130 GRCh37 Chromosome 3, 148903180: 148903180
42 CP NM_000096.3(CP): c.2131C> A (p.Gln711Lys) single nucleotide variant Pathogenic rs386134130 GRCh38 Chromosome 3, 149185393: 149185393
43 CP NM_000096.3(CP): c.643C> T (p.Arg215Ter) single nucleotide variant Pathogenic rs386134155 GRCh37 Chromosome 3, 148927136: 148927136
44 CP NM_000096.3(CP): c.643C> T (p.Arg215Ter) single nucleotide variant Pathogenic rs386134155 GRCh38 Chromosome 3, 149209349: 149209349
45 CP NM_000096.3(CP): c.2701C> T (p.Arg901Ter) single nucleotide variant Pathogenic rs386134156 GRCh37 Chromosome 3, 148896379: 148896379
46 CP NM_000096.3(CP): c.2701C> T (p.Arg901Ter) single nucleotide variant Pathogenic rs386134156 GRCh38 Chromosome 3, 149178592: 149178592
47 CP NM_000096.3(CP): c.848G> C (p.Trp283Ser) single nucleotide variant Pathogenic rs386134126 GRCh37 Chromosome 3, 148925338: 148925338
48 CP NM_000096.3(CP): c.848G> C (p.Trp283Ser) single nucleotide variant Pathogenic rs386134126 GRCh38 Chromosome 3, 149207551: 149207551
49 CP NM_000096.3(CP): c.1123T> C (p.Tyr375His) single nucleotide variant Pathogenic rs386134128 GRCh37 Chromosome 3, 148924040: 148924040
50 CP NM_000096.3(CP): c.1123T> C (p.Tyr375His) single nucleotide variant Pathogenic rs386134128 GRCh38 Chromosome 3, 149206253: 149206253

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 GeneCards Suite gene sharing:

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

GO Terms for Aceruloplasminemia

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 ferroxidase activity GO:0004322 8.62 CP FXN

Sources for Aceruloplasminemia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
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49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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