ACERULOP
MCID: ACR006
MIFTS: 69

Aceruloplasminemia (ACERULOP)

Categories: Blood diseases, Eye diseases, Genetic diseases, Metabolic diseases, Neuronal diseases, Rare diseases
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Aliases & Classifications for Aceruloplasminemia

MalaCards integrated aliases for Aceruloplasminemia:

Name: Aceruloplasminemia 57 11 24 19 42 58 75 73 14 36
Hypoceruloplasminemia 19 42 28 5
Cerebellar Ataxia 57 28 12 5
Hemosiderosis, Systemic, Due to Aceruloplasminemia 57 28 5
Familial Apoceruloplasmin Deficiency 19 42 71
Hereditary Ceruloplasmin Deficiency 19 42 58
Deficiency of Ferroxidase 42 28 5
Systemic Hemosiderosis Due to Aceruloplasminemia 19 42
Hypoceruloplasminemia, Hereditary 57 38
Ceruloplasmin Deficiency 19 71
Acerulop 73

Characteristics:


Inheritance:

Autosomal recessive 58 57

Prevelance:

1-9/1000000 (Japan) <1/1000000 (Worldwide) 58

Age Of Onset:

Adult,Elderly 58

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
onset between age 30-50 years


Classifications:

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


Summaries for Aceruloplasminemia

MedlinePlus Genetics: 42 Aceruloplasminemia is a disorder in which iron gradually accumulates in the brain and other organs. Iron accumulation in the brain results in neurological problems that generally appear in adulthood and worsen over time.People with aceruloplasminemia develop a variety of movement problems. They may experience involuntary muscle contractions (dystonia) of the head and neck, resulting in repetitive movements and contortions. Other involuntary movements may also occur, such as rhythmic shaking (tremors), jerking movements (chorea), eyelid twitching (blepharospasm), and grimacing. Affected individuals may also have difficulty with coordination (ataxia). Some develop psychiatric problems and a decline of intellectual function (dementia) in their forties or fifties.In addition to neurological problems, affected individuals may have diabetes mellitus caused by iron damage to cells in the pancreas that make insulin, a hormone that helps control blood sugar levels. Iron accumulation in the pancreas reduces the cells' ability to make insulin, which impairs blood sugar regulation and leads to the signs and symptoms of diabetes.Iron accumulation in the tissues and organs results in a corresponding shortage (deficiency) of iron in the blood, leading to a shortage of red blood cells (anemia). Anemia and diabetes usually occur by the time an affected person is in his or her twenties.Affected individuals also have changes in the light-sensitive tissue at the back of the eye (retina) caused by excess iron. The changes result in small opaque spots and areas of tissue degeneration (atrophy) around the edges of the retina. These abnormalities usually do not affect vision but can be observed during an eye examination.The specific features of aceruloplasminemia and their severity may vary, even within the same family.

MalaCards based summary: Aceruloplasminemia, also known as hypoceruloplasminemia, is related to ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia and autosomal recessive cerebellar ataxia, and has symptoms including ataxia, abnormality of extrapyramidal motor function and scanning speech. An important gene associated with Aceruloplasminemia is CP (Ceruloplasmin), and among its related pathways/superpathways is Type II diabetes mellitus. The drugs Estradiol and Polyestradiol phosphate have been mentioned in the context of this disorder. Affiliated tissues include Adipose, and related phenotypes are abnormal enzyme/coenzyme activity and hypochromic microcytic anemia

GARD: 19 Aceruloplasminemia causes a build-up of iron in the brain and the organs of the body. Symptoms begin in adulthood. People with Aceruloplasminemia develop anemia, diabetes, and eye problems. Over time, difficulty controlling movements may occur. These include tremors, chorea, ataxia, eyelid twitching, and grimacing. Some experience psychiatric problems and dementia. An eye examination may reveal changes in the retina, but these changes typically do not affect vision. Aceruloplasminemia is caused by genetic changes in the CP gene and is inherited in an autosomal recessive pattern. Diagnosis is based on the symptoms, imaging studies and may be confirmed by the results of genetic testing.

UniProtKB/Swiss-Prot: 73 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.

Disease Ontology: 11 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.

Orphanet: 58 A rare adult-onset disorder of neurodegeneration with brain iron accumulation (NBIA) characterized by anemia, retinal degeneration, diabetes and various neurological symptoms.

Wikipedia: 75 Aceruloplasminemia is a rare autosomal recessive disorder in which the liver can not synthesize 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 1114)
# Related Disease Score Top Affiliating Genes
1 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia 33.3 SETX CACNA1A ATM
2 autosomal recessive cerebellar ataxia 33.2 SETX CACNA1A ATM
3 kearns-sayre syndrome 33.1 SURF1 MT-ATP6 CACNA1A AFG3L2
4 spinocerebellar ataxia, autosomal recessive 14 33.0 CACNA1A AFG3L2
5 coenzyme q10 deficiency, primary, 4 33.0 SETX COQ4
6 spinocerebellar ataxia 29 33.0 SETX AFG3L2
7 spinocerebellar ataxia, autosomal recessive 17 32.8 CACNA1A AFG3L2
8 cerebellar ataxia type 48 32.8 CACNA1A AFG3L2
9 spinocerebellar ataxia 18 32.7 CACNA1A AFG3L2
10 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 32.7 SETX CACNA1A ATM
11 neurodevelopmental disorder with or without variable movement or behavioral abnormalities 32.4 LOC101927078 KCNN2
12 spinocerebellar ataxia type 1 with axonal neuropathy 32.3 SETX ATM
13 spastic ataxia 32.3 STXBP1 SETX PLA2G6 MT-ATP6 FLNC COQ4
14 spastic paraplegia 7, autosomal recessive 32.3 SETX AFG3L2
15 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis 32.2 SURF1 SETX MT-ATP6 AFG3L2
16 hereditary ataxia 32.2 SETX CACNA1A ATM AFG3L2
17 familial adult myoclonic epilepsy 32.1 PLA2G6 CSMD1 CACNA1A
18 cerebellar disease 32.0 SETX NPC1 CP CACNA1A ATM AFG3L2
19 peripheral nervous system disease 31.7 SLC2A1 SETX MT-ATP6 CACNA1A ATM
20 spasticity 31.6 STXBP1 SLC2A1 PMM2 AFG3L2
21 hereditary spastic paraplegia 31.5 SETX PLA2G6 NPC1 MT-ATP6 CACNA1A AFG3L2
22 apraxia 31.5 SETX CEP104 ATM
23 oculomotor apraxia 31.4 SETX CEP104 ATM AFG3L2
24 movement disease 31.2 SLC2A1 PLA2G6 CP CACNA1A
25 episodic ataxia 31.2 SLC2A1 CACNA1A AFG3L2
26 choreatic disease 31.0 SLC2A1 SETX CP CACNA1A AFG3L2
27 dystonia 30.9 SLC2A1 PLA2G6 NPC1 KCNN2 CP CEP104
28 optic nerve disease 30.9 SURF1 MT-ATP6 AFG3L2
29 mitochondrial myopathy 30.8 SURF1 MT-ATP6 COQ4 AFG3L2
30 spastic paraparesis 30.8 CACNA1A AFG3L2
31 strabismus 30.7 STXBP1 SLC2A1 PMM2 CACNA1A
32 ocular motility disease 30.5 SURF1 MT-ATP6 CACNA1A AFG3L2
33 early myoclonic encephalopathy 30.5 STXBP1 SLC2A1 MT-ATP6 CACNA1A AFG3L2
34 progressive myoclonus epilepsy 30.4 STXBP1 CACNA1A AFG3L2
35 alcohol-related neurodevelopmental disorder 30.3 STXBP1 PLA2G6
36 childhood absence epilepsy 30.2 STXBP1 SLC2A1 CACNA1A
37 cerebellar ataxia, deafness, and narcolepsy, autosomal dominant 11.9
38 gordon holmes syndrome 11.8
39 gillespie syndrome 11.8
40 cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1 11.7
41 spinocerebellar ataxia, autosomal recessive 8 11.7
42 cerebellar ataxia, neuropathy, and vestibular areflexia syndrome 11.7
43 autosomal dominant cerebellar ataxia 11.7
44 cerebellar ataxia, cayman type 11.7
45 short-rib thoracic dysplasia 9 with or without polydactyly 11.7
46 cerebellar ataxia, early-onset, with retained tendon reflexes 11.7
47 spinocerebellar ataxia 7 11.7
48 cerebellar ataxia and ectodermal dysplasia 11.6
49 cerebellar ataxia, mental retardation, and dysequilibrium syndrome 3 11.6
50 cerebellar dysfunction with variable cognitive and behavioral abnormalities 11.6

Graphical network of the top 20 diseases related to Aceruloplasminemia:



Diseases related to Aceruloplasminemia

Symptoms & Phenotypes for Aceruloplasminemia

Human phenotypes related to Aceruloplasminemia:

58 30 (show all 49)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormal enzyme/coenzyme activity 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0012379
2 hypochromic microcytic anemia 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0004840
3 refractory anemia 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0005505
4 aceruloplasminemia 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0025498
5 increased circulating ferritin concentration 30 Hallmark (90%) HP:0003281
6 dysarthria 58 30 Frequent (33%) Frequent (79-30%)
HP:0001260
7 diabetes mellitus 58 30 Frequent (33%) Frequent (79-30%)
HP:0000819
8 chorea 58 30 Frequent (33%) Frequent (79-30%)
HP:0002072
9 abnormality of retinal pigmentation 58 30 Frequent (33%) Frequent (79-30%)
HP:0007703
10 gait ataxia 58 30 Frequent (33%) Frequent (79-30%)
HP:0002066
11 macular degeneration 58 30 Frequent (33%) Frequent (79-30%)
HP:0000608
12 decreased circulating copper concentration 58 30 Frequent (33%) Frequent (79-30%)
HP:0011967
13 limb ataxia 58 30 Frequent (33%) Frequent (79-30%)
HP:0002070
14 elevated hepatic iron concentration 58 30 Frequent (33%) Frequent (79-30%)
HP:0012465
15 decreased serum iron 58 30 Frequent (33%) Frequent (79-30%)
HP:0040303
16 decreased circulating ceruloplasmin concentration 30 Frequent (33%) HP:0010837
17 nystagmus 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000639
18 tremor 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001337
19 congestive heart failure 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001635
20 memory impairment 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002354
21 blepharospasm 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000643
22 abnormal pancreas morphology 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0012090
23 rigidity 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002063
24 iron accumulation in brain 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0012675
25 apathy 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000741
26 akinesia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002304
27 torticollis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000473
28 facial grimacing 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000273
29 parkinsonism 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001300
30 abnormal corpus striatum morphology 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0010994
31 abnormal thalamic mri signal intensity 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0012696
32 abnormal dentate nucleus morphology 30 Occasional (7.5%) HP:0100321
33 ataxia 58 30 Frequent (79-30%)
HP:0001251
34 retinal degeneration 58 30 Frequent (79-30%)
HP:0000546
35 cognitive impairment 58 Frequent (79-30%)
36 anemia 30 HP:0001903
37 hepatic fibrosis 58 Excluded (0%)
38 cirrhosis 58 Excluded (0%)
39 abnormality of extrapyramidal motor function 30 HP:0002071
40 involuntary movements 58 Frequent (79-30%)
41 dystonia 58 Frequent (79-30%)
42 abnormality of the nervous system 58 Very frequent (99-80%)
43 scanning speech 30 HP:0002168
44 increased serum ferritin 58 Very frequent (99-80%)
45 dementia 30 HP:0000726
46 cogwheel rigidity 30 HP:0002396
47 decreased serum ceruloplasmin 58 Frequent (79-30%)
48 craniofacial dystonia 58 Occasional (29-5%)
49 abnormality of the dentate nucleus 58 Occasional (29-5%)

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Neurologic Central Nervous System:
ataxia
dysarthria
chorea
scanning speech
cogwheel rigidity
more
Head And Neck Eyes:
blepharospasm
retinal degeneration

Hematology:
mild anemia

Endocrine Features:
diabetes mellitus

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

Clinical features from OMIM®:

604290 (Updated 08-Dec-2022)

UMLS symptoms related to Aceruloplasminemia:


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

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

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 no effect GR00402-S-1 10.17 AFG3L2 ATM ATP6V0A1 C11orf65 CACNA1A CEP104
2 no effect GR00402-S-2 10.17 ATM ATP6V0A1 C11orf65 CACNA1A CEP104 COQ4

MGI Mouse Phenotypes related to Aceruloplasminemia:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.24 ATM ATP6V0A1 CACNA1A COQ4 CP CSMD1
2 nervous system MP:0003631 10.22 AFG3L2 ATM ATP6V0A1 CACNA1A CP KCNN2
3 growth/size/body region MP:0005378 10.17 AFG3L2 ATM ATP6V0A1 CACNA1A CP CSMD1
4 cellular MP:0005384 9.9 AFG3L2 ATM ATP6V0A1 CACNA1A CP NPC1
5 embryo MP:0005380 9.86 AFG3L2 ATM COQ4 FLNC PMM2 SLC2A1
6 behavior/neurological MP:0005386 9.8 AFG3L2 ATM ATP6V0A1 CACNA1A CP CSMD1
7 mortality/aging MP:0010768 9.44 AFG3L2 ATM ATP6V0A1 CACNA1A COQ4 FLNC

Drugs & Therapeutics for Aceruloplasminemia

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

(show top 50) (show all 206)
# 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
Clonidine Approved Phase 4 4205-91-8, 4205-90-7 2803 20179
4
Dopamine Approved Phase 4 62-31-7, 51-61-6 681
5
Pioglitazone Approved, Investigational Phase 4 111025-46-8 4829
6
Metformin Approved Phase 4 1115-70-4, 657-24-9 4091
7
Amantadine Approved Phase 4 768-94-5 2130
8
Citalopram Approved Phase 4 59729-32-7, 59729-33-8 2771
9
Bupropion Approved Phase 4 31677-93-7, 34841-39-9, 34911-55-2 444
10
Arginine Approved, Investigational, Nutraceutical Phase 4 74-79-3 6322
11
Cholecalciferol Approved, Nutraceutical, Vet_approved Phase 4 67-97-0, 1406-16-2 5280795 10883523
12
Calcitriol Approved, Nutraceutical Phase 4 32222-06-3 5280453
13
Dexetimide Withdrawn Phase 4 21888-98-2 30843
14 Insulin, Globin Zinc Phase 4
15
Insulin Phase 4
16 Adrenergic alpha-Agonists Phase 4
17 Estrogens Phase 4
18 Adrenergic Agonists Phase 4
19 Estradiol 3-benzoate Phase 4
20 Estradiol 17 beta-cypionate Phase 4
21 Adrenergic Agents Phase 4
22 Contraceptive Agents Phase 4
23 Sympatholytics Phase 4
24 Mitogens Phase 4
25 Neurotransmitter Agents Phase 4
26 Cholinergic Agents Phase 4
27 Hypoglycemic Agents Phase 4
28 Psychotropic Drugs Phase 4
29 Antidepressive Agents Phase 4
30 Analgesics Phase 4
31 Dopamine Agents Phase 4
32 Antiparkinson Agents Phase 4
33 Analgesics, Non-Narcotic Phase 4
34 Parasympatholytics Phase 4
35 Dopamine Uptake Inhibitors Phase 4
36 Serotonin Uptake Inhibitors Phase 4
37 Cytochrome P-450 Enzyme Inhibitors Phase 4
38 Muscarinic Antagonists Phase 4
39 Cholinergic Antagonists Phase 4
40 Hormones Phase 4
41 Calcium, Dietary Phase 4
42 Vitamins Phase 4
43 Trace Elements Phase 4
44 Micronutrients Phase 4
45 Calciferol Phase 4
46 Vasoconstrictor Agents Phase 4
47
Serotonin Investigational, Nutraceutical Phase 4 50-67-9 5202
48
Calcium Nutraceutical Phase 4 7440-70-2 271
49
Riluzole Approved, Investigational Phase 2, Phase 3 1744-22-5 5070
50
Idebenone Approved, Investigational Phase 3 58186-27-9 3686

Interventional clinical trials:

(show top 50) (show all 209)
# 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 Response of Individuals With Ataxia-Telangiectasia to Metformin and Pioglitazone Completed NCT02733679 Phase 4 Metformin;Pioglitazone
3 The Effect of Amantadine on Movement Disorder in Ataxia-Telangiectasia Completed NCT00950196 Phase 4 amantadine sulphate
4 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
5 Pilot Trial About the Effects of Calcitriol's Treatment in the Neurological Function and Frataxin's Level in Friedreich's Ataxia Patients Active, not recruiting NCT04801303 Phase 4 Calcitriol
6 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 Unknown status NCT03901638 Phase 3 Tllsh2910;Placebo
7 Efficacy of Riluzole in Hereditary Cerebellar Ataxia: a Randomized Double-blind Placebo-controlled Trial. Completed NCT01104649 Phase 2, Phase 3 riluzole;Placebo comparator
8 A Phase III 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
9 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 Completed NCT04102501 Phase 3 RT001;Placebo
10 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
11 Effect of Pioglitazone Administered to Patients With Friedreich's ATAXIA:Proof of Concept Completed NCT00811681 Phase 3 pioglitazone;Placebo
12 Conjugate Pneumococcal Vaccine in Ataxia Telangiectasia (AT) Completed NCT00656409 Phase 3 Conjugated pneumococcal vaccine (Prevenar)
13 Multicenter, Randomized, Double Blind, Placebo Controlled Clinical Trial With Riluzole in Spinocerebellar Ataxia Type 2 Completed NCT03347344 Phase 3 Riluzole;Placebo
14 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
15 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;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 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
18 Randomized Clinical Trial to Assess the Safety and Efficacy of Lithium Carbonate in Patients With Spinocerebellar Ataxia Type 3 Completed NCT01096082 Phase 2, Phase 3 Lithium Carbonate;Placebo
19 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
20 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
21 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
22 A Double-blind, Randomized, Placebo Controlled, Trial to Assess Safety and Efficacy of SLS-005 (Trehalose Injection, 90.5 mg/mL for Intravenous Infusion) for the Treatment of Adults With Spinocerebellar Ataxia Recruiting NCT05490563 Phase 2, Phase 3 SLS-005;Placebo
23 An Open Pilot Trial of BHV-4157 in Adult Subjects With Cerebellar Ataxia Active, not recruiting NCT03408080 Phase 3 BHV-4157
24 A Phase III, Long-Term, Randomized, Double-blind, Placebo-controlled Trial of Troriluzole in Adult Subjects With Spinocerebellar Ataxia. Active, not recruiting NCT03701399 Phase 3 troriluzole;Placebos
25 A Randomized, Parallel-Arm, Double-Blind, Placebo-Controlled Study With Open-Label Extension to Assess the Efficacy and Safety of Vatiquinone for the Treatment of Friedreich Ataxia (MOVE-FA) Active, not recruiting NCT04577352 Phase 2, Phase 3 Vatiquinone;Placebo
26 A Phase IIb/III, Randomized, Double-blind, Placebo-controlled Trial of Troriluzole in Adult Subjects With Spinocerebellar Ataxia Active, not recruiting NCT02960893 Phase 2, Phase 3 Troriluzole;Placebo
27 Long-Term Open-Label Study to Assess the Safety and Efficacy of Vatiquinone in Patients With Friedreich Ataxia Not yet recruiting NCT05515536 Phase 3 Vatiquinone
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 Phase I/II Study of Umbilical Cord Mesenchymal Stem Cell Therapy for Patients With Hereditary Ataxia Unknown status NCT01360164 Phase 1, Phase 2
32 Treatment of Cerebellar Ataxia With Mesenchymal Stem Cells Completed NCT01649687 Phase 1, Phase 2
33 Phase 2 Study of Riluzole Effects on Patients With Chronic Cerebellar Ataxia Completed NCT00202397 Phase 2 Riluzole
34 Effect of Nilotinib in Cerebellar Ataxia Patients Completed NCT03932669 Phase 2 Nilotinib
35 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 Completed NCT02540655 Phase 2
36 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
37 Single-Center, Open-Label, Sequential Trial to Test the Efficacy, Safety and Tolerability of Epoetin Alfa in Patients With Friedreich's Ataxia Completed NCT00631202 Phase 2 Epoetin alfa
38 A Double-Blind, Placebo-controlled Study on the Effects of MIN-102 on Biochemical, Imaging, Neurophysiological, and Clinical Markers in Patients With Friedreich's Ataxia Completed NCT03917225 Phase 2 MIN-102;Placebo
39 Safety and Efficacy of γIFN Treatment in Friedreich Ataxia Completed NCT03888664 Phase 2 gamma interferon
40 Efficacy of EGb761 120mg Bid Versus Placebo in Patients Suffering From Friedreich Ataxia. A 3 Month, Phase II, Randomised, Double Blind, Placebo Controlled, Parallel Group Clinical Study. Completed NCT00824512 Phase 2 EGb 761 120 mg;Placebo
41 Open-label Pilot Study of Interferon Gamma-1b (Actimmune™) for the Treatment of Friedreich Ataxia (FRDA) Completed NCT01965327 Phase 2 Interferon Gamma-1b
42 Treatment of Fragile-X Associated Tremor/Ataxia Syndrome (FXTAS) With Allopregnanolone Completed NCT02603926 Phase 2 Allopregnanolone
43 A Phase 2A Clinical Trial of EPI-743 (Vincerinone™) on Visual Function in Friedreich's Ataxia Patients With Point Mutations Completed NCT01962363 Phase 2 EPI-743
44 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
45 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
46 A Randomized, Double-blind, Controlled Study to Assess the Safety, Tolerability, and Pharmacokinetics of RT001 in Patients With Friedreich's Ataxia Completed NCT02445794 Phase 1, Phase 2 Low dose cohort;High dose cohort
47 Randomised, Double Blind, Placebo Controlled Study of Lu AA24493 in Patients With Friedreich's Ataxia to Evaluate Safety and Tolerability and to Explore Efficacy Completed NCT01016366 Phase 2 Lu AA24493;Placebo
48 Randomized, Placebo-controlled Trial to Test Safety, Tolerability and Efficacy of Lithium Carbonate in Spinocerebellar Ataxia 2 Completed NCT00998634 Phase 2 LITHIUM CARBONATE
49 Effect of Iron-Chelating Therapy in Friedreich Ataxia. Study Phase I/II Completed NCT00224640 Phase 1, Phase 2 Iron chelating intervention
50 A Six Month Double-Blind, Placebo-Controlled Phase 2 Clinical Trial to Determine the Safety and Efficacy of Idebenone Administered to Patients With Friedreich's Ataxia Completed NCT00229632 Phase 2 Idebenone

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 28 CP
2 Hemosiderosis, Systemic, Due to Aceruloplasminemia 28
3 Cerebellar Ataxia 28
4 Hypoceruloplasminemia 28

Anatomical Context for Aceruloplasminemia

Organs/tissues related to Aceruloplasminemia:

MalaCards : Eye, Brain, Retina, Pancreas, Liver, Bone Marrow, 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 6439)
# Title Authors PMID Year
1
A mutation in the ceruloplasmin gene is associated with systemic hemosiderosis in humans. 62 24 57 5
7539672 1995
2
Familial apoceruloplasmin deficiency associated with blepharospasm and retinal degeneration. 62 24 57 5
3574673 1987
3
Hereditary ceruloplasmin deficiency with hemosiderosis. 62 57 5
8641692 1996
4
Characterization of a nonsense mutation in the ceruloplasmin gene resulting in diabetes and neurodegenerative disease. 62 57 5
8789443 1996
5
Aceruloplasminemia: molecular characterization of this disorder of iron metabolism. 62 57 5
7708681 1995
6
[A case of ceruloplasmin deficiency which showed dementia, ataxia and iron deposition in the brain]. 62 57 5
1458725 1992
7
Molecular and pathological basis of aceruloplasminemia. 62 24 5
16629161 2006
8
Use of desferrioxamine in the treatment of aceruloplasminemia. 62 24 57
9066364 1997
9
Hereditary caeruloplasmin deficiency, dementia and diabetes mellitus. 57 5
7820540 1994
10
Gene deletions causing human genetic disease: mechanisms of mutagenesis and the role of the local DNA sequence environment. 57 5
2016084 1991
11
Iron metabolism in copper-deficient swine. 57 5
5675426 1968
12
The possible significance of the ferrous oxidase activity of ceruloplasmin in normal human serum. 57 5
5912351 1966
13
Iron chelation therapy in aceruloplasminaemia: study of a patient with a novel missense mutation. 24 5
15082597 2004
14
Genetic and Clinical Heterogeneity in Thirteen New Cases with Aceruloplasminemia. Atypical Anemia as a Clue for an Early Diagnosis. 62 5
32235485 2020
15
Homozygous PCDH12 variants result in phenotype of cerebellar ataxia, dystonia, retinopathy, and dysmorphism. 62 5
30459466 2019
16
New insights in the neurological phenotype of aceruloplasminemia in Caucasian patients. 62 5
28012953 2017
17
Does aceruloplasminemia modulate iron phenotype in thalassemia intermedia? 62 5
26777753 2016
18
Movement disorders and brain iron overload in a new subtype of aceruloplasminemia. 62 5
25864092 2015
19
Dominant mutants of ceruloplasmin impair the copper loading machinery in aceruloplasminemia. 62 5
19095659 2009
20
Disruption of ceruloplasmin and hephaestin in mice causes retinal iron overload and retinal degeneration with features of age-related macular degeneration. 62 57
15365174 2004
21
Aceruloplasminemia 62 5
20301666 2003
22
Mechanisms of copper incorporation into human ceruloplasmin. 62 5
12351628 2002
23
Cerebellar ataxia associated with heteroallelic ceruloplasmin gene mutation. 62 5
11756598 2001
24
Recent advances in disorders of iron metabolism: mutations, mechanisms and modifiers. 62 57
11673399 2001
25
Hereditary ceruloplasmin deficiency with hemosiderosis: a clinicopathological study of a Japanese family. 62 57
7755360 1995
26
Hereditary hypoceruloplasminemia. 62 57
436329 1979
27
Novel genes bearing mutations in rare cases of early-onset ataxia with cerebellar hypoplasia. 5
35351988 2022
28
Whole-genome sequencing of patients with rare diseases in a national health system. 5
32581362 2020
29
ATPase Domain AFG3L2 Mutations Alter OPA1 Processing and Cause Optic Neuropathy. 5
32219868 2020
30
Phenotypic heterogeneity in seven Italian cases of aceruloplasminemia. 62 24
29503155 2018
31
Clinical evaluation of a hemochromatosis next-generation sequencing gene panel. 5
27753142 2017
32
Molecular diagnostic experience of whole-exome sequencing in adult patients. 5
26633545 2016
33
Aceruloplasminemia. 62 24
22515740 2012
34
Desferrioxamine treatment of aceruloplasminemia: Long-term follow-up. 62 24
21594898 2011
35
Hepatic but not brain iron is rapidly chelated by deferasirox in aceruloplasminemia due to a novel gene mutation. 62 24
20801540 2010
36
Treatment of symptomatic heterozygous aceruloplasminemia with oral zinc sulphate. 62 24
17307325 2007
37
Novel mutation in the ceruloplasmin gene causing a cognitive and movement disorder with diabetes mellitus. 62 24
17013908 2006
38
Iron overload and antioxidative role of perivascular astrocytes in aceruloplasminemia. 62 24
16599945 2006
39
Biochemical features of ceruloplasmin gene mutations linked to aceruloplasminemia. 62 24
16775387 2006
40
Aceruloplasminemia in an asymptomatic patient with a new mutation. Diagnosis and family genetic analysis. 62 24
15885371 2005
41
Aceruloplasminemia, an iron metabolic disorder. 62 24
14719552 2003
42
Aceruloplasminemia with juvenile-onset diabetes mellitus caused by exon skipping in the ceruloplasmin gene. 62 24
12879954 2003
43
Aceruloplasminemia, an inherited disorder of iron metabolism. 62 24
12572680 2003
44
Astrocytic deformity and globular structures are characteristic of the brains of patients with aceruloplasminemia. 62 24
12484569 2002
45
Anemia and iron overload due to compound heterozygosity for novel ceruloplasmin mutations. 62 24
12200392 2002
46
Aceruloplasminemia: new clinical, pathophysiological and therapeutic insights. 62 24
12044538 2002
47
Biochemical analysis of a missense mutation in aceruloplasminemia. 62 24
11689569 2002
48
A novel mutation of the ceruloplasmin gene in a patient with heteroallelic ceruloplasmin gene mutation (HypoCPGM). 62 24
10997552 2000
49
Aceruloplasminemia with a novel mutation associated with parkinsonism. 62 24
10983721 2000
50
Alternative RNA splicing generates a glycosylphosphatidylinositol-anchored form of ceruloplasmin in mammalian brain. 62 24
10660599 2000

Variations for Aceruloplasminemia

ClinVar genetic disease variations for Aceruloplasminemia:

5 (show top 50) (show all 461)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CP NM_000096.4(CP):c.2389del (p.Glu797fs) DEL Pathogenic
17560 rs386134149 GRCh37: 3:148901289-148901289
GRCh38: 3:149183502-149183502
2 CP NM_000096.4(CP):c.1282_1286dup (p.Asp430fs) DUP Pathogenic
Pathogenic
17561 rs386134145 GRCh37: 3:148919950-148919951
GRCh38: 3:149202163-149202164
3 CP NM_000096.4(CP):c.2630G>A (p.Trp877Ter) SNV Pathogenic
Pathogenic
17562 rs121909579 GRCh37: 3:148897374-148897374
GRCh38: 3:149179587-149179587
4 CP NM_000096.4(CP):c.606dup (p.Asp203fs) DUP Pathogenic
Pathogenic
17563 rs386134143 GRCh37: 3:148927954-148927955
GRCh38: 3:149210167-149210168
5 CP NM_000096.4(CP):c.607+1G>A SNV Pathogenic
42172 rs386134136 GRCh37: 3:148927953-148927953
GRCh38: 3:149210166-149210166
6 CP NM_000096.4(CP):c.395-1G>A SNV Pathogenic
42168 rs386134135 GRCh37: 3:148928167-148928167
GRCh38: 3:149210380-149210380
7 CP NM_000096.4(CP):c.2917dup (p.Thr973fs) DUP Pathogenic
42156 rs386134154 GRCh37: 3:148895727-148895728
GRCh38: 3:149177940-149177941
8 CP NM_000096.4(CP):c.2879-1G>A SNV Pathogenic
42155 rs386134141 GRCh37: 3:148895767-148895767
GRCh38: 3:149177980-149177980
9 CP NM_000096.4(CP):c.2689_2690del (p.Leu897fs) DEL Pathogenic
42154 rs386134153 GRCh37: 3:148896390-148896391
GRCh38: 3:149178603-149178604
10 CP NM_000096.4(CP):c.2603del (p.Gly868fs) DEL Pathogenic
42153 rs386134152 GRCh37: 3:148897401-148897401
GRCh38: 3:149179614-149179614
11 CP NM_000096.4(CP):c.2554+1G>T SNV Pathogenic
42152 rs386134140 GRCh37: 3:148899791-148899791
GRCh38: 3:149182004-149182004
12 CP NM_000096.4(CP):c.2511dup (p.Gly838fs) DUP Pathogenic
42151 rs386134151 GRCh37: 3:148899834-148899835
GRCh38: 3:149182047-149182048
13 CP NM_000096.4(CP):c.2482del (p.Ala828fs) DEL Pathogenic
42150 rs386134150 GRCh37: 3:148899864-148899864
GRCh38: 3:149182077-149182077
14 CP NM_000096.4(CP):c.2185del (p.Leu729fs) DEL Pathogenic
42147 rs587777922 GRCh37: 3:148903126-148903126
GRCh38: 3:149185339-149185339
15 CP NM_000096.4(CP):c.2068del (p.Asp690fs) DEL Pathogenic
42144 rs386134148 GRCh37: 3:148904316-148904316
GRCh38: 3:149186529-149186529
16 CP NM_000096.4(CP):c.1918del (p.Asp640fs) DEL Pathogenic
42141 rs386134146 GRCh37: 3:148904466-148904466
GRCh38: 3:149186679-149186679
17 CP NM_000096.4(CP):c.1865-1G>A SNV Pathogenic
42139 rs386134139 GRCh37: 3:148904520-148904520
GRCh38: 3:149186733-149186733
18 CP NM_000096.4(CP):c.146+1G>A SNV Pathogenic
42135 rs386134134 GRCh37: 3:148939433-148939433
GRCh38: 3:149221646-149221646
19 CP NM_000096.4(CP):c.1257_1258del (p.Ser419_Tyr420insTer) DEL Pathogenic
42133 rs386134144 GRCh37: 3:148919979-148919980
GRCh38: 3:149202192-149202193
20 CP NM_000096.3(CP):c.1209_1210dupTG (p.Asp404Valfs) DUP Pathogenic
42131 rs386134138 GRCh37: 3:148920026-148920027
GRCh38: 3:149202239-149202240
21 CP NM_000096.4(CP):c.1209-2A>G SNV Pathogenic
42130 rs386134137 GRCh37: 3:148920030-148920030
GRCh38: 3:149202243-149202243
22 CP NM_000096.4(CP):c.1123T>C (p.Tyr375His) SNV Pathogenic
42128 rs386134128 GRCh37: 3:148924040-148924040
GRCh38: 3:149206253-149206253
23 CP NM_000096.4(CP):c.848G>C (p.Trp283Ser) SNV Pathogenic
42126 rs386134126 GRCh37: 3:148925338-148925338
GRCh38: 3:149207551-149207551
24 CP NM_000096.4(CP):c.643C>T (p.Arg215Ter) SNV Pathogenic
42122 rs386134155 GRCh37: 3:148927136-148927136
GRCh38: 3:149209349-149209349
25 CP NM_000096.4(CP):c.2131C>A (p.Gln711Lys) SNV Pathogenic
42121 rs386134130 GRCh37: 3:148903180-148903180
GRCh38: 3:149185393-149185393
26 CP NM_000096.4(CP):c.493C>G (p.Gln165Glu) SNV Pathogenic
42120 rs386134122 GRCh37: 3:148928068-148928068
GRCh38: 3:149210281-149210281
27 CP NM_000096.4(CP):c.587C>G (p.Pro196Arg) SNV Pathogenic
42119 rs386134124 GRCh37: 3:148927974-148927974
GRCh38: 3:149210187-149210187
28 CP NM_000096.4(CP):c.2953A>G (p.Met985Val) SNV Pathogenic
42062 rs386134132 GRCh37: 3:148895692-148895692
GRCh38: 3:149177905-149177905
29 CP NM_000096.4(CP):c.82A>T (p.Ile28Phe) SNV Pathogenic
42057 rs386134121 GRCh37: 3:148939498-148939498
GRCh38: 3:149221711-149221711
30 CP NM_000096.4(CP):c.2675G>A (p.Gly892Glu) SNV Pathogenic
42053 rs386134131 GRCh37: 3:148896405-148896405
GRCh38: 3:149178618-149178618
31 CP NM_000096.4(CP):c.1874G>A (p.Gly625Glu) SNV Pathogenic
42052 rs386134129 GRCh37: 3:148904510-148904510
GRCh38: 3:149186723-149186723
32 CP NM_000096.4(CP):c.650T>C (p.Phe217Ser) SNV Pathogenic
42051 rs386134125 GRCh37: 3:148927129-148927129
GRCh38: 3:149209342-149209342
33 CP NM_000096.4(CP):c.1049C>A (p.Ala350Asp) SNV Pathogenic
42047 rs386134127 GRCh37: 3:148924114-148924114
GRCh38: 3:149206327-149206327
34 CP NM_000096.4(CP):c.2078-74_2241del DEL Pathogenic
488149 rs1553759167 GRCh37: 3:148903070-148903307
GRCh38: 3:149185283-149185520
35 CP NM_000096.4(CP):c.1208+1G>A SNV Pathogenic
488150 rs1553762556 GRCh37: 3:148923954-148923954
GRCh38: 3:149206167-149206167
36 CP NM_000096.4(CP):c.1012T>A (p.Cys338Ser) SNV Pathogenic
488147 rs769313989 GRCh37: 3:148925174-148925174
GRCh38: 3:149207387-149207387
37 CP NM_000096.4(CP):c.1865-291_2077+352del DEL Pathogenic
488148 rs1553759338 GRCh37: 3:148903955-148904810
GRCh38: 3:149186168-149187023
38 SLC2A1 NM_006516.4(SLC2A1):c.470dup (p.Thr158fs) DUP Pathogenic
373993 rs1057518821 GRCh37: 1:43396342-43396343
GRCh38: 1:42930671-42930672
39 CP NM_000096.4(CP):c.2498C>G (p.Ser833Ter) SNV Pathogenic
645495 rs369900671 GRCh37: 3:148899848-148899848
GRCh38: 3:149182061-149182061
40 SETX NM_015046.7(SETX):c.5308_5311del (p.Glu1770fs) MICROSAT Pathogenic
448333 rs750959420 GRCh37: 9:135187207-135187210
GRCh38: 9:132311820-132311823
41 CEP104 NM_014704.4(CEP104):c.89del (p.Thr30fs) DEL Pathogenic
812756 rs1570858523 GRCh37: 1:3768883-3768883
GRCh38: 1:3852319-3852319
42 KCNJ10 NM_002241.5(KCNJ10):c.194G>C (p.Arg65Pro) SNV Pathogenic
7462 rs137853066 GRCh37: 1:160012129-160012129
GRCh38: 1:160042339-160042339
43 KCNN2 NM_021614.4(KCNN2):c.1436_1439del (p.Leu478_Tyr479insTer) DEL Pathogenic
933141 rs1758879579 GRCh37: 5:113740349-113740352
GRCh38: 5:114404652-114404655
44 KCNN2, LOC101927078 NM_021614.4(KCNN2):c.1931T>C (p.Leu644Pro) SNV Pathogenic
933149 rs1747594790 GRCh37: 5:113822787-113822787
GRCh38: 5:114487090-114487090
45 CP NM_000096.4(CP):c.2879-2A>G SNV Pathogenic
1322157 GRCh37: 3:148895768-148895768
GRCh38: 3:149177981-149177981
46 CP NM_000096.4(CP):c.2322C>A (p.Tyr774Ter) SNV Pathogenic
1379970 GRCh37: 3:148901356-148901356
GRCh38: 3:149183569-149183569
47 overlap with 30 genes NC_000003.11:g.(?_148447967)_(151176497_?)del DEL Pathogenic
1459543 GRCh37: 3:148447967-151176497
GRCh38:
48 TDP2 NM_016614.3(TDP2):c.636+3_636+6del DEL Pathogenic
812705 rs1240335250 GRCh37: 6:24654634-24654637
GRCh38: 6:24654406-24654409
49 SATB2 NM_001172509.2(SATB2):c.1924C>T (p.Gln642Ter) SNV Pathogenic
1172597 GRCh37: 2:200137212-200137212
GRCh38: 2:199272489-199272489
50 CP NM_000096.4(CP):c.1149G>A (p.Trp383Ter) SNV Pathogenic
1453045 GRCh37: 3:148924014-148924014
GRCh38: 3:149206227-149206227

Copy number variations for Aceruloplasminemia from CNVD:

6
# 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 directly related to Aceruloplasminemia:

# Pathway Source
1 Defective CP causes aceruloplasminemia (ACERULOP) Reactome 66

Pathways related to Aceruloplasminemia according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 9.97 SURF1 CACNA1A

GO Terms for Aceruloplasminemia

Sources for Aceruloplasminemia

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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