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 56 12 74 24 52 25 58 73 36 15 37 39
Cerebellar Ataxia 56 12 29 13 6 43 15
Hypoceruloplasminemia 52 25 29 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 cerebellar ataxia, is related to autosomal dominant 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 Polyestradiol phosphate 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 927)
# Related Disease Score Top Affiliating Genes
1 autosomal dominant cerebellar ataxia 35.3 SOD1 SETX FXN CACNA1A
2 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia 35.1 SETX FXN CACNA1A ATM
3 autosomal recessive cerebellar ataxia 35.1 SETX FXN CACNA1A ATM
4 spinocerebellar ataxia 2 34.3 SOD1 SETX CACNA1A
5 kearns-sayre syndrome 33.9 SURF1 MT-ATP6 FXN CACNA1A
6 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 33.7 SETX FXN CACNA1A
7 myoclonic epilepsy associated with ragged-red fibers 33.5 SURF1 SOD2 MT-ATP6
8 vitamin e, familial isolated deficiency of 33.2 SETX FXN
9 neurodegeneration with brain iron accumulation 3 33.1 PLA2G6 PANK2 FTL FA2H CP
10 friedreich ataxia 33.0 SOD2 SOD1 SETX FXN CACNA1A
11 hereditary ataxia 32.3 SETX FXN CACNA1A ATM
12 cerebellar disease 32.3 SETX FXN CP CACNA1A ATM
13 peripheral nervous system disease 32.3 SOD1 MT-ATP6 GFAP FXN
14 neurodegeneration with brain iron accumulation 32.1 PLA2G6 PANK2 FXN FTL FA2H CP
15 apraxia 32.1 SETX KIF7 ATM
16 dystonia 32.0 SLC2A1 SETX PLA2G6 PANK2 NPC1 FTL
17 movement disease 32.0 SLC2A1 PLA2G6 PANK2 FTL CP CACNA1A
18 hemochromatosis, type 1 32.0 SOD1 SETX PANK2 FXN FTL CP
19 hereditary spastic paraplegia 31.8 SLC2A1 SETX PLA2G6 MT-ATP6 FA2H
20 retinitis pigmentosa 31.8 SOD2 SOD1 SLC2A1 PANK2 MT-ATP6 GFAP
21 cerebellar degeneration 31.8 CACNA1A ATM
22 dementia 31.7 SOD1 NPC1 MT-ATP6 GFAP CP
23 mitochondrial encephalomyopathy 31.6 SURF1 SOD2 SOD1 MT-ATP6 CP
24 wilson disease 31.6 SOD1 NPC1 CP
25 mitochondrial metabolism disease 31.5 SURF1 SOD2 MT-TE MT-ATP6 FXN
26 iron metabolism disease 31.5 PANK2 FTL CP
27 hemiplegia 31.5 SLC2A1 MT-ATP6 CACNA1A
28 amyotrophic lateral sclerosis 1 31.4 SOD2 SOD1 SETX MT-ATP6 GFAP FA2H
29 optic nerve disease 31.3 MT-ATP6 GFAP FXN
30 choreoacanthocytosis 31.3 PANK2 FTL CP
31 prion disease 31.1 SOD2 SOD1 GFAP
32 sideroblastic anemia 31.1 SOD2 MT-ATP6 FXN
33 migraine with aura 31.1 SOD2 SLC2A1 CACNA1A
34 microvascular complications of diabetes 5 31.1 SOD2 SOD1 SLC2A1
35 spastic paraplegia 35, autosomal recessive 31.0 PLA2G6 PANK2 FA2H
36 cerebellar ataxia, deafness, and narcolepsy, autosomal dominant 12.8
37 cerebellar ataxia, early-onset, with retained tendon reflexes 12.8
38 cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1 12.8
39 cerebellar ataxia, nonprogressive, with mental retardation 12.8
40 cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss 12.7
41 cerebellar ataxia and ectodermal dysplasia 12.7
42 cerebellar ataxia, cayman type 12.7
43 cerebellar ataxia, mental retardation, and dysequilibrium syndrome 3 12.7
44 cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2 12.7
45 myoclonus, cerebellar ataxia, and deafness 12.7
46 cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4 12.7
47 cerebellar ataxia, neuropathy, and vestibular areflexia syndrome 12.7
48 intellectual developmental disorder with or without epilepsy or cerebellar ataxia 12.6
49 cerebellar ataxia, mental retardation and dysequlibrium syndrome 12.6
50 cognitive impairment with or without cerebellar ataxia 12.6

Graphical network of the top 20 diseases related to Aceruloplasminemia:



Diseases related to Aceruloplasminemia

Symptoms & Phenotypes for Aceruloplasminemia

Human phenotypes related to Aceruloplasminemia:

58 31 (show all 29)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 tremor 58 31 hallmark (90%) Very frequent (99-80%) HP:0001337
2 diabetes mellitus 58 31 hallmark (90%) Very frequent (99-80%) HP:0000819
3 chorea 58 31 hallmark (90%) Very frequent (99-80%) HP:0002072
4 increased serum ferritin 58 31 hallmark (90%) Very frequent (99-80%) HP:0003281
5 decreased serum ceruloplasmin 58 31 hallmark (90%) Very frequent (99-80%) HP:0010837
6 refractory anemia 58 31 hallmark (90%) Very frequent (99-80%) HP:0005505
7 elevated hepatic iron concentration 58 31 hallmark (90%) Very frequent (99-80%) HP:0012465
8 retinal degeneration 31 hallmark (90%) HP:0000546
9 depressivity 58 31 frequent (33%) Frequent (79-30%) HP:0000716
10 ataxia 58 31 frequent (33%) Frequent (79-30%) HP:0001251
11 delayed speech and language development 58 31 frequent (33%) Frequent (79-30%) HP:0000750
12 hypertonia 58 31 frequent (33%) Frequent (79-30%) HP:0001276
13 dementia 58 31 frequent (33%) Frequent (79-30%) HP:0000726
14 blepharospasm 58 31 frequent (33%) Frequent (79-30%) HP:0000643
15 torticollis 58 31 frequent (33%) Frequent (79-30%) HP:0000473
16 parkinsonism 58 31 frequent (33%) Frequent (79-30%) HP:0001300
17 dysarthria 58 31 occasional (7.5%) Occasional (29-5%) HP:0001260
18 hypothyroidism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000821
19 congestive heart failure 58 31 occasional (7.5%) Occasional (29-5%) HP:0001635
20 memory impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0002354
21 behavioral abnormality 58 Frequent (79-30%)
22 anemia 31 HP:0001903
23 abnormality of extrapyramidal motor function 31 HP:0002071
24 involuntary movements 58 Frequent (79-30%)
25 scanning speech 31 HP:0002168
26 cogwheel rigidity 31 HP:0002396
27 decreased serum iron 31 HP:0040303
28 retinal lesions 58 Very frequent (99-80%)
29 aceruloplasminemia 31 HP:0025498

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
ataxia
dysarthria
chorea
torticollis
scanning speech
more
Head And Neck Eyes:
retinal degeneration
blepharospasm

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

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance GR00251-A-1 9.17 SOD2
2 Decreased shRNA abundance GR00251-A-2 9.17 SOD2
3 Decreased shRNA abundance GR00297-A 9.17 PANK2 PLA2G6 SLC2A1 SOD1 SOD2

MGI Mouse Phenotypes related to Aceruloplasminemia:

45 (show all 11)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.38 ATM CACNA1A CP DNM1 FXN GFAP
2 behavior/neurological MP:0005386 10.37 ATM CACNA1A CP DNM1 FA2H FXN
3 homeostasis/metabolism MP:0005376 10.36 ATM CACNA1A CP DNM1 FA2H FXN
4 growth/size/body region MP:0005378 10.27 ATM CACNA1A FXN GFAP KIF7 NPC1
5 mortality/aging MP:0010768 10.21 ATM CACNA1A DNM1 FXN GFAP KIF7
6 immune system MP:0005387 10.18 ATM CACNA1A CP FXN GFAP NPC1
7 nervous system MP:0003631 10.16 ATM CACNA1A CP DNM1 FA2H FXN
8 muscle MP:0005369 9.97 CACNA1A FXN GFAP KIF7 PANK2 PLA2G6
9 no phenotypic analysis MP:0003012 9.7 CACNA1A DNM1 FA2H FXN KIF7 NPC1
10 reproductive system MP:0005389 9.65 ATM CACNA1A KIF7 NPC1 PANK2 PLA2G6
11 vision/eye MP:0005391 9.36 CACNA1A CP DNM1 FA2H GFAP KIF7

Drugs & Therapeutics for Aceruloplasminemia

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

(show top 50) (show all 199)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Estradiol Approved, Investigational, Vet_approved Phase 4 50-28-2 5757
2
Polyestradiol phosphate Approved Phase 4 28014-46-2
3
Mecasermin Approved, Investigational Phase 4 68562-41-4
4
Clonidine Approved Phase 4 4205-90-7 2803
5
Dopamine Approved Phase 4 51-61-6, 62-31-7 681
6
Citalopram Approved Phase 4 59729-33-8 2771
7
Bupropion Approved Phase 4 34911-55-2, 34841-39-9 444
8
Amantadine Approved Phase 4 768-94-5 2130
9
Pioglitazone Approved, Investigational Phase 4 111025-46-8 4829
10
Metformin Approved Phase 4 657-24-9 14219 4091
11 Neurotransmitter Agents Phase 4
12 Analgesics Phase 4
13 Antihypertensive Agents Phase 4
14 Estrogens Phase 4
15 Adrenergic Agonists Phase 4
16 Adrenergic alpha-2 Receptor Agonists Phase 4
17 Contraceptive Agents Phase 4
18 Estradiol 17 beta-cypionate Phase 4
19 Mitogens Phase 4
20 Estradiol 3-benzoate Phase 4
21 Insulin, Globin Zinc Phase 4
22 insulin Phase 4
23 Sympatholytics Phase 4
24 Adrenergic Agents Phase 4
25 Cholinergic Agents Phase 4
26 Serotonin Uptake Inhibitors Phase 4
27 Dopamine Uptake Inhibitors Phase 4
28 Cytochrome P-450 Enzyme Inhibitors Phase 4
29 Dopamine Agents Phase 4
30 Psychotropic Drugs Phase 4
31 Antiparkinson Agents Phase 4
32 Serotonin Agents Phase 4
33 Muscarinic Antagonists Phase 4
34 Antidepressive Agents Phase 4
35 Cytochrome P-450 CYP2D6 Inhibitors Phase 4
36 Cholinergic Antagonists Phase 4
37 Parasympatholytics Phase 4
38 Antiviral Agents Phase 4
39 Anti-Infective Agents Phase 4
40 Hypoglycemic Agents Phase 4
41 Thyrotropin-Releasing Hormone Phase 4
42 Nootropic Agents Phase 4
43 TA 0910 Phase 4
44
Arginine Investigational, Nutraceutical Phase 4 74-79-3 6322
45
Serotonin Investigational, Nutraceutical Phase 4 50-67-9 5202
46
Droxidopa Approved, Investigational Phase 2, Phase 3 23651-95-8 443940
47
Idarubicin Approved Phase 3 58957-92-9 42890
48
Idebenone Approved, Investigational Phase 3 58186-27-9
49
Lithium carbonate Approved Phase 2, Phase 3 554-13-2
50
Ethanol Approved Phase 3 64-17-5 702

Interventional clinical trials:

(show top 50) (show all 164)
# 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 Conjugate Pneumococcal Vaccine in Ataxia Telangiectasia (AT) Completed NCT00656409 Phase 3 Conjugated pneumococcal vaccine (Prevenar)
15 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
16 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
17 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
18 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
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 An Open Pilot Trial of BHV-4157 in Adult Subjects With Cerebellar Ataxia Active, not recruiting NCT03408080 Phase 3 BHV-4157
27 A Phase IIb/III, Randomized, Double-blind, Placebo-controlled Trial of BHV-4157 in Adult Subjects With Spinocerebellar Ataxia Active, not recruiting NCT02960893 Phase 2, Phase 3 BHV-4157;Placebo Comparator
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 A Phase II, Randomised, Double Blind Study Assessing the Efficacy of EGb761 120mg Bid Versus Placebo in Patients Suffering From Friedreich Ataxia 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 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
42 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
43 Effect of Iron-Chelating Therapy in Friedreich Ataxia. Study Phase I/II Completed NCT00224640 Phase 1, Phase 2 Iron chelating intervention
44 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
45 Randomized, Placebo-controlled Trial to Test Safety, Tolerability and Efficacy of Lithium Carbonate in Spinocerebellar Ataxia 2 Completed NCT00998634 Phase 2 LITHIUM CARBONATE
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 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
48 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
49 An Open-label, Single Treatment, Safety and Efficacy, Long-term Study of Deferiprone in Subjects With Friedreich's Ataxia Completed NCT00897221 Phase 2 Deferiprone oral solution 100mg/mL;Deferiprone oral solution 100 mg/mL
50 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

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 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, Eye, Retina, Cerebellum, Liver, 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 5410)
# Title Authors PMID Year
1
A mutation in the ceruloplasmin gene is associated with systemic hemosiderosis in humans. 61 24 56 6
7539672 1995
2
Familial apoceruloplasmin deficiency associated with blepharospasm and retinal degeneration. 24 56 6
3574673 1987
3
Hereditary ceruloplasmin deficiency with hemosiderosis. 61 56 6
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 56 6
7708681 1995
6
[A case of ceruloplasmin deficiency which showed dementia, ataxia and iron deposition in the brain]. 61 56 6
1458725 1992
7
Use of desferrioxamine in the treatment of aceruloplasminemia. 61 24 56
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. 56 6
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 61 6
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 ceruloplasmin deficiency with hemosiderosis: a clinicopathological study of a Japanese family. 61 56
7755360 1995
17
Phenotypic heterogeneity in seven Italian cases of aceruloplasminemia. 61 24
29503155 2018
18
Neurodegeneration with Brain Iron Accumulation Disorders Overview 6
23447832 2013
19
Aceruloplasminemia. 61 24
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. 61 24
20801540 2010
22
Treatment of symptomatic heterozygous aceruloplasminemia with oral zinc sulphate. 61 24
17307325 2007
23
Novel mutation in the ceruloplasmin gene causing a cognitive and movement disorder with diabetes mellitus. 61 24
17013908 2006
24
Iron overload and antioxidative role of perivascular astrocytes in aceruloplasminemia. 61 24
16599945 2006
25
Molecular and pathological basis of aceruloplasminemia. 61 24
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. 61 24
15885371 2005
28
Aceruloplasminemia, an iron metabolic disorder. 61 24
14719552 2003
29
Aceruloplasminemia with juvenile-onset diabetes mellitus caused by exon skipping in the ceruloplasmin gene. 61 24
12879954 2003
30
Aceruloplasminemia, an inherited disorder of iron metabolism. 61 24
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. 61 24
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. 61 24
10449129 1999
38
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. 61 24
10529542 1999
39
A novel splicing mutation in the ceruloplasmin gene responsible for hereditary ceruloplasmin deficiency with hemosiderosis. 61 24
9559983 1998
40
Meige disease: acute and chronic cholinergic effects. 56
7201118 1982
41
Pharmacology of blepharospasm-oromandibular dystonia syndrome. 56
7190236 1980
42
Hereditary hypoceruloplasminemia. 56
436329 1979
43
The oral iron chelator deferiprone protects against iron overload-induced retinal degeneration. 24
21051716 2011
44
Aceruloplasminaemia with progressive atrophy without brain iron overload: treatment with oral chelation. 24
17911185 2008
45
Extrapyramidal and cerebellar movement disorder in association with heterozygous ceruloplasmin gene mutation. 24
15654567 2005
46
Iron chelation therapy in aceruloplasminaemia: study of a patient with a novel missense mutation. 24
15082597 2004
47
Glycosylphosphatidylinositol-anchored ceruloplasmin is required for iron efflux from cells in the central nervous system. 24
12743117 2003
48
Hepatic iron overload in aceruloplasminaemia. 24
11076887 2000
49
A novel mutation of the ceruloplasmin gene in a patient with heteroallelic ceruloplasmin gene mutation (HypoCPGM). 24
10997552 2000
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 580) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SETX NM_015046.7(SETX):c.5222dup (p.Asp1742fs)duplication Pathogenic 183294 rs730882209 9:135201762-135201763 9:132326375-132326376
2 MT-ATP6 NC_012920.1:m.8993T>GSNV Pathogenic 9641 rs199476133 MT:8993-8993 MT:8993-8993
3 SURF1 NM_003172.4(SURF1):c.841_842CT[2] (p.Ser282fs)short repeat Pathogenic 12770 rs782316919 9:136218825-136218826 9:133351970-133351971
4 CP NM_000096.4(CP):c.3019-1G>ASNV Pathogenic 17559 rs386134142 3:148894200-148894200 3:149176413-149176413
5 CP NM_000096.4(CP):c.2389del (p.Glu797fs)deletion Pathogenic 17560 rs386134149 3:148901289-148901289 3:149183502-149183502
6 CP NM_000096.4(CP):c.1282_1286dup (p.Asp430fs)duplication Pathogenic 17561 rs386134145 3:148919950-148919951 3:149202163-149202164
7 CP NM_000096.4(CP):c.2630G>A (p.Trp877Ter)SNV Pathogenic 17562 rs121909579 3:148897374-148897374 3:149179587-149179587
8 CP NM_000096.3(CP):c.606dupA (p.Asp203Argfs)duplication Pathogenic 17563 rs386134143 3:148927954-148927955 3:149210167-149210168
9 CP NM_000096.4(CP):c.146+1G>ASNV Pathogenic 42135 rs386134134 3:148939433-148939433 3:149221646-149221646
10 CP NM_000096.4(CP):c.1865-1G>ASNV Pathogenic 42139 rs386134139 3:148904520-148904520 3:149186733-149186733
11 CP NM_000096.4(CP):c.1257_1258del (p.Ser419_Tyr420insTer)deletion Pathogenic 42133 rs386134144 3:148919979-148919980 3:149202192-149202193
12 CP NM_000096.4(CP):c.1049C>A (p.Ala350Asp)SNV Pathogenic 42047 rs386134127 3:148924114-148924114 3:149206327-149206327
13 CP NM_000096.4(CP):c.229G>C (p.Asp77His)SNV Pathogenic 42050 rs200683433 3:148930403-148930403 3:149212616-149212616
14 CP NM_000096.4(CP):c.650T>C (p.Phe217Ser)SNV Pathogenic 42051 rs386134125 3:148927129-148927129 3:149209342-149209342
15 CP NM_000096.4(CP):c.1874G>A (p.Gly625Glu)SNV Pathogenic 42052 rs386134129 3:148904510-148904510 3:149186723-149186723
16 CP NM_000096.4(CP):c.2675G>A (p.Gly892Glu)SNV Pathogenic 42053 rs386134131 3:148896405-148896405 3:149178618-149178618
17 CP NM_000096.4(CP):c.2962G>A (p.Gly988Ser)SNV Pathogenic 42055 rs386134133 3:148895683-148895683 3:149177896-149177896
18 CP NM_000096.4(CP):c.548T>C (p.Ile183Thr)SNV Pathogenic 42056 rs386134123 3:148928013-148928013 3:149210226-149210226
19 CP NM_000096.4(CP):c.82A>T (p.Ile28Phe)SNV Pathogenic 42057 rs386134121 3:148939498-148939498 3:149221711-149221711
20 CP NM_000096.4(CP):c.2953A>G (p.Met985Val)SNV Pathogenic 42062 rs386134132 3:148895692-148895692 3:149177905-149177905
21 CP NM_000096.4(CP):c.587C>G (p.Pro196Arg)SNV Pathogenic 42119 rs386134124 3:148927974-148927974 3:149210187-149210187
22 CP NM_000096.4(CP):c.493C>G (p.Gln165Glu)SNV Pathogenic 42120 rs386134122 3:148928068-148928068 3:149210281-149210281
23 CP NM_000096.4(CP):c.2131C>A (p.Gln711Lys)SNV Pathogenic 42121 rs386134130 3:148903180-148903180 3:149185393-149185393
24 CP NM_000096.4(CP):c.643C>T (p.Arg215Ter)SNV Pathogenic 42122 rs386134155 3:148927136-148927136 3:149209349-149209349
25 CP NM_000096.4(CP):c.848G>C (p.Trp283Ser)SNV Pathogenic 42126 rs386134126 3:148925338-148925338 3:149207551-149207551
26 CP NM_000096.4(CP):c.1123T>C (p.Tyr375His)SNV Pathogenic 42128 rs386134128 3:148924040-148924040 3:149206253-149206253
27 CP NM_000096.4(CP):c.1209-2A>GSNV Pathogenic 42130 rs386134137 3:148920030-148920030 3:149202243-149202243
28 CP NM_000096.3(CP):c.1209_1210dupTG (p.Asp404Valfs)duplication Pathogenic 42131 rs386134138 3:148920026-148920027 3:149202239-149202240
29 CP NM_000096.4(CP):c.1918del (p.Asp640fs)deletion Pathogenic 42141 rs386134146 3:148904466-148904466 3:149186679-149186679
30 CP NM_000096.4(CP):c.2066del (p.Pro689fs)deletion Pathogenic 42143 rs386134147 3:148904318-148904318 3:149186531-149186531
31 CP NM_000096.4(CP):c.2068del (p.Asp690fs)deletion Pathogenic 42144 rs386134148 3:148904316-148904316 3:149186529-149186529
32 CP NM_000096.4(CP):c.2185del (p.Leu729fs)deletion Pathogenic 42147 rs587777922 3:148903126-148903126 3:149185339-149185339
33 CP NM_000096.4(CP):c.2482del (p.Ala828fs)deletion Pathogenic 42150 rs386134150 3:148899864-148899864 3:149182077-149182077
34 CP NM_000096.4(CP):c.2511dup (p.Gly838fs)duplication Pathogenic 42151 rs386134151 3:148899834-148899835 3:149182047-149182048
35 CP NM_000096.4(CP):c.2554+1G>TSNV Pathogenic 42152 rs386134140 3:148899791-148899791 3:149182004-149182004
36 CP NM_000096.4(CP):c.2603del (p.Gly868fs)deletion Pathogenic 42153 rs386134152 3:148897401-148897401 3:149179614-149179614
37 CP NM_000096.4(CP):c.2689_2690del (p.Leu897fs)deletion Pathogenic 42154 rs386134153 3:148896390-148896391 3:149178603-149178604
38 CP NM_000096.4(CP):c.2879-1G>ASNV Pathogenic 42155 rs386134141 3:148895767-148895767 3:149177980-149177980
39 CP NM_000096.4(CP):c.2917dup (p.Thr973fs)duplication Pathogenic 42156 rs386134154 3:148895727-148895728 3:149177940-149177941
40 CP NM_000096.4(CP):c.395-1G>ASNV Pathogenic 42168 rs386134135 3:148928167-148928167 3:149210380-149210380
41 CP NM_000096.4(CP):c.607+1G>ASNV Pathogenic 42172 rs386134136 3:148927953-148927953 3:149210166-149210166
42 CP NM_000096.4(CP):c.2991T>G (p.His997Gln)SNV Pathogenic 217866 rs34394958 3:148895654-148895654 3:149177867-149177867
43 CP NM_000096.4(CP):c.2701C>T (p.Arg901Ter)SNV Pathogenic 42124 rs386134156 3:148896379-148896379 3:149178592-149178592
44 SLC2A1 NM_006516.3(SLC2A1):c.470dup (p.Thr158fs)duplication Pathogenic 373993 rs1057518821 1:43396342-43396343 1:42930671-42930672
45 ATM NM_000051.3(ATM):c.689del (p.Asn230fs)deletion Pathogenic 374194 rs1057518965 11:108115539-108115539 11:108244812-108244812
46 NPC1 NM_000271.5(NPC1):c.1421C>T (p.Pro474Leu)SNV Pathogenic 374049 rs372445155 18:21134854-21134854 18:23554890-23554890
47 CP NM_000096.4(CP):c.2078-74_2241deldeletion Pathogenic 488149 rs1553759167 3:148903070-148903307 3:149185283-149185520
48 CP NM_000096.4(CP):c.1865-291_2077+352deldeletion Pathogenic 488148 rs1553759338 3:148903955-148904810 3:149186168-149187023
49 CP NM_000096.4(CP):c.1208+1G>ASNV Pathogenic 488150 rs1553762556 3:148923954-148923954 3:149206167-149206167
50 CP NM_000096.4(CP):c.1012T>A (p.Cys338Ser)SNV Pathogenic 488147 rs769313989 3:148925174-148925174 3:149207387-149207387

Copy number variations for Aceruloplasminemia from CNVD:

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

Expression for Aceruloplasminemia

Search GEO for disease gene expression data for Aceruloplasminemia.

Pathways for Aceruloplasminemia

Pathways related to Aceruloplasminemia according to KEGG:

36
# Name Kegg Source Accession
1 Ferroptosis hsa04216
2 Porphyrin and chlorophyll metabolism hsa00860

GO Terms for Aceruloplasminemia

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

# Name GO ID Score Top Affiliating Genes
1 cell GO:0005623 9.5 SOD1 PLA2G6 FXN FTL CP CACNA1A
2 mitochondrion GO:0005739 9.23 SURF1 SOD2 SOD1 PTRH2 PLA2G6 PANK2

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

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 cellular response to oxidative stress GO:0034599 9.65 SOD2 SOD1 SETX
2 iron ion transport GO:0006826 9.52 FTL CP
3 transmission of nerve impulse GO:0019226 9.51 SOD1 CACNA1A
4 iron ion homeostasis GO:0055072 9.5 FXN FTL CP
5 oxidation-reduction process GO:0055114 9.5 SURF1 SOD2 SOD1 FXN FTL FA2H
6 response to amyloid-beta GO:1904645 9.49 DNM1 CACNA1A
7 removal of superoxide radicals GO:0019430 9.46 SOD2 SOD1
8 oxidative phosphorylation GO:0006119 9.43 SURF1 FXN
9 aerobic respiration GO:0009060 9.43 SURF1 PANK2 FXN
10 peripheral nervous system myelin maintenance GO:0032287 9.4 SOD1 FA2H
11 response to superoxide GO:0000303 9.37 SOD2 SOD1
12 adult walking behavior GO:0007628 9.33 NPC1 FXN CACNA1A
13 cellular iron ion homeostasis GO:0006879 8.92 SOD1 FXN FTL CP

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

# Name GO ID Score Top Affiliating Genes
1 oxidoreductase activity GO:0016491 9.72 SOD2 SOD1 FXN FA2H CP
2 identical protein binding GO:0042802 9.7 SOD2 SOD1 SLC2A1 SETX GFAP FTL
3 ferric iron binding GO:0008199 9.26 FXN FTL
4 superoxide dismutase activity GO:0004784 8.96 SOD2 SOD1
5 ferroxidase activity GO:0004322 8.8 FXN FTL CP

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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