Aceruloplasminemia disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

ACERULOP MCID: ACR006 MIFTS: 69	Aceruloplasminemia (ACERULOP) Categories: Blood diseases, Eye diseases, Genetic diseases, Metabolic diseases, Neuronal diseases, Rare diseases	Data Licensing For inquiries, contact: [email protected]
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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:

MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases
Anatomical: Neuronal diseases Eye diseases Blood diseases

See all MalaCards categories (disease lists)

ICD10: ³¹ ³²

Diseases of the nervous system

Systemic atrophies primarily affecting the central nervous system

Hereditary ataxia

Cerebellar ataxia with defective DNA repair

Endocrine, nutritional and metabolic diseases

Metabolic disorders

Disorders of mineral metabolism

Disorders of iron metabolism

Orphanet: ⁵⁸

Rare neurological diseases

Rare eye diseases

Inborn errors of metabolism

Rare haematological diseases

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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

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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:

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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

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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

Estradiol

Approved, Investigational, Vet_approved

Phase 4

50-28-2

5757

Polyestradiol phosphate

Approved

Phase 4

28014-46-2

Clonidine

Approved

Phase 4

4205-91-8, 4205-90-7

2803 20179

Dopamine

Approved

Phase 4

62-31-7, 51-61-6

681

Pioglitazone

Approved, Investigational

Phase 4

111025-46-8

4829

Metformin

Approved

Phase 4

1115-70-4, 657-24-9

4091

Amantadine

Approved

Phase 4

768-94-5

2130

Citalopram

Approved

Phase 4

59729-32-7, 59729-33-8

2771

Bupropion

Approved

Phase 4

31677-93-7, 34841-39-9, 34911-55-2

444

Arginine

Approved, Investigational, Nutraceutical

Phase 4

74-79-3

6322

Cholecalciferol

Approved, Nutraceutical, Vet_approved

Phase 4

67-97-0, 1406-16-2

5280795 10883523

Calcitriol

Approved, Nutraceutical

Phase 4

32222-06-3

5280453

Dexetimide

Withdrawn

Phase 4

21888-98-2

30843

Insulin, Globin Zinc

Phase 4

Insulin

Phase 4

Adrenergic alpha-Agonists

Phase 4

Estrogens

Phase 4

Adrenergic Agonists

Phase 4

Estradiol 3-benzoate

Phase 4

Estradiol 17 beta-cypionate

Phase 4

Adrenergic Agents

Phase 4

Contraceptive Agents

Phase 4

Sympatholytics

Phase 4

Mitogens

Phase 4

Neurotransmitter Agents

Phase 4

Cholinergic Agents

Phase 4

Hypoglycemic Agents

Phase 4

Psychotropic Drugs

Phase 4

Antidepressive Agents

Phase 4

Analgesics

Phase 4

Dopamine Agents

Phase 4

Antiparkinson Agents

Phase 4

Analgesics, Non-Narcotic

Phase 4

Parasympatholytics

Phase 4

Dopamine Uptake Inhibitors

Phase 4

Serotonin Uptake Inhibitors

Phase 4

Cytochrome P-450 Enzyme Inhibitors

Phase 4

Muscarinic Antagonists

Phase 4

Cholinergic Antagonists

Phase 4

Hormones

Phase 4

Calcium, Dietary

Phase 4

Vitamins

Phase 4

Trace Elements

Phase 4

Micronutrients

Phase 4

Calciferol

Phase 4

Vasoconstrictor Agents

Phase 4

Serotonin

Investigational, Nutraceutical

Phase 4

50-67-9

5202

Calcium

Nutraceutical

Phase 4

7440-70-2

271

Riluzole

Approved, Investigational

Phase 2, Phase 3

1744-22-5

5070

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:

Data from LifeMap, the Embryonic Development and Stem Cells Database

Read about Aceruloplasminemia cell therapies at LifeMap Discovery.

Stem-cell-based therapeutic approaches for Aceruloplasminemia:

	Allogeneic adipose-derived mesenchymal stem cells for treatment of cerebellar ataxia
	Umbilical cord-derived mesenchymal stem cells for hereditary cerebellar ataxia

Embryonic/Adult Cultured Cells Related to Aceruloplasminemia:

	Adipose-derived mesenchymal stem cells (family)
	Umbilical cord-derived mesenchymal stem cells (family)

Sources

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

Sources

Anatomical Context for Aceruloplasminemia

Organs/tissues related to Aceruloplasminemia:

MalaCards : Eye, Brain, Retina, Pancreas, Liver, Bone Marrow, Spinal Cord

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

Sources

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	Yoshida K...Yanagisawa N	7539672	1995
2	Familial apoceruloplasmin deficiency associated with blepharospasm and retinal degeneration. ⁶² ²⁴ ⁵⁷ ⁵	Miyajima H...Honda N	3574673	1987
3	Hereditary ceruloplasmin deficiency with hemosiderosis. ⁶² ⁵⁷ ⁵	Okamoto N...Wada Y	8641692	1996
4	Characterization of a nonsense mutation in the ceruloplasmin gene resulting in diabetes and neurodegenerative disease. ⁶² ⁵⁷ ⁵	Takahashi Y...Gitlin JD	8789443	1996
5	Aceruloplasminemia: molecular characterization of this disorder of iron metabolism. ⁶² ⁵⁷ ⁵	Harris ZL...Gitlin JD	7708681	1995
6	[A case of ceruloplasmin deficiency which showed dementia, ataxia and iron deposition in the brain]. ⁶² ⁵⁷ ⁵	Morita H...Yanagisawa N	1458725	1992
7	Molecular and pathological basis of aceruloplasminemia. ⁶² ²⁴ ⁵	Kono S...Miyajima H	16629161	2006
8	Use of desferrioxamine in the treatment of aceruloplasminemia. ⁶² ²⁴ ⁵⁷	Miyajima H...Gitlin JD	9066364	1997
9	Hereditary caeruloplasmin deficiency, dementia and diabetes mellitus. ⁵⁷ ⁵	Logan JI...Archbold GP	7820540	1994
10	Gene deletions causing human genetic disease: mechanisms of mutagenesis and the role of the local DNA sequence environment. ⁵⁷ ⁵	Krawczak M...Cooper DN	2016084	1991
11	Iron metabolism in copper-deficient swine. ⁵⁷ ⁵	Lee GR...Cartwright GE	5675426	1968
12	The possible significance of the ferrous oxidase activity of ceruloplasmin in normal human serum. ⁵⁷ ⁵	Osaki S...Frieden E	5912351	1966
13	Iron chelation therapy in aceruloplasminaemia: study of a patient with a novel missense mutation. ²⁴ ⁵	Mariani R...Piperno A	15082597	2004
14	Genetic and Clinical Heterogeneity in Thirteen New Cases with Aceruloplasminemia. Atypical Anemia as a Clue for an Early Diagnosis. ⁶² ⁵	Vila Cuenca M...Sanchez M	32235485	2020
15	Homozygous PCDH12 variants result in phenotype of cerebellar ataxia, dystonia, retinopathy, and dysmorphism. ⁶² ⁵	Vineeth VS...Aggarwal S	30459466	2019
16	New insights in the neurological phenotype of aceruloplasminemia in Caucasian patients. ⁶² ⁵	Vroegindeweij LHP...Boon AJW	28012953	2017
17	Does aceruloplasminemia modulate iron phenotype in thalassemia intermedia? ⁶² ⁵	Pelucchi S...Piperno A	26777753	2016
18	Movement disorders and brain iron overload in a new subtype of aceruloplasminemia. ⁶² ⁵	Melgari JM...Vernieri F	25864092	2015
19	Dominant mutants of ceruloplasmin impair the copper loading machinery in aceruloplasminemia. ⁶² ⁵	di Patti MC...Musci G	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	Hahn P...Dunaief JL	15365174	2004
21	Aceruloplasminemia ⁶² ⁵	Miyajima H...Hosoi Y	20301666	2003
22	Mechanisms of copper incorporation into human ceruloplasmin. ⁶² ⁵	Hellman NE...Gitlin JD	12351628	2002
23	Cerebellar ataxia associated with heteroallelic ceruloplasmin gene mutation. ⁶² ⁵	Miyajima H...Sakai N	11756598	2001
24	Recent advances in disorders of iron metabolism: mutations, mechanisms and modifiers. ⁶² ⁵⁷	Roy CN...Andrews NC	11673399	2001
25	Hereditary ceruloplasmin deficiency with hemosiderosis: a clinicopathological study of a Japanese family. ⁶² ⁵⁷	Morita H...Yanagisawa N	7755360	1995
26	Hereditary hypoceruloplasminemia. ⁶² ⁵⁷	Edwards CQ...Cartwright GE	436329	1979
27	Novel genes bearing mutations in rare cases of early-onset ataxia with cerebellar hypoplasia. ⁵	Protasova MS...Rogaev EI	35351988	2022
28	Whole-genome sequencing of patients with rare diseases in a national health system. ⁵	Turro E...Ouwehand WH	32581362	2020
29	ATPase Domain AFG3L2 Mutations Alter OPA1 Processing and Cause Optic Neuropathy. ⁵	Caporali L...Taroni F	32219868	2020
30	Phenotypic heterogeneity in seven Italian cases of aceruloplasminemia. ⁶² ²⁴	Pelucchi S...Piperno A	29503155	2018
31	Clinical evaluation of a hemochromatosis next-generation sequencing gene panel. ⁵	Lanktree MB...Adams PC	27753142	2017
32	Molecular diagnostic experience of whole-exome sequencing in adult patients. ⁵	Posey JE...Plon SE	26633545	2016
33	Aceruloplasminemia. ⁶² ²⁴	Kono S	22515740	2012
34	Desferrioxamine treatment of aceruloplasminemia: Long-term follow-up. ⁶² ²⁴	Pan PL...Shang HF	21594898	2011
35	Hepatic but not brain iron is rapidly chelated by deferasirox in aceruloplasminemia due to a novel gene mutation. ⁶² ²⁴	Finkenstedt A...Zoller H	20801540	2010
36	Treatment of symptomatic heterozygous aceruloplasminemia with oral zinc sulphate. ⁶² ²⁴	Kuhn J...Hoogenraad TU	17307325	2007
37	Novel mutation in the ceruloplasmin gene causing a cognitive and movement disorder with diabetes mellitus. ⁶² ²⁴	Shang HF...Zhou D	17013908	2006
38	Iron overload and antioxidative role of perivascular astrocytes in aceruloplasminemia. ⁶² ²⁴	Oide T...Arima K	16599945	2006
39	Biochemical features of ceruloplasmin gene mutations linked to aceruloplasminemia. ⁶² ²⁴	Kono S...Kitagawa M	16775387	2006
40	Aceruloplasminemia in an asymptomatic patient with a new mutation. Diagnosis and family genetic analysis. ⁶² ²⁴	Perez-Aguilar F...Rayon JM	15885371	2005
41	Aceruloplasminemia, an iron metabolic disorder. ⁶² ²⁴	Miyajima H	14719552	2003
42	Aceruloplasminemia with juvenile-onset diabetes mellitus caused by exon skipping in the ceruloplasmin gene. ⁶² ²⁴	Hatanaka Y...Yoshida K	12879954	2003
43	Aceruloplasminemia, an inherited disorder of iron metabolism. ⁶² ²⁴	Miyajima H...Kono S	12572680	2003
44	Astrocytic deformity and globular structures are characteristic of the brains of patients with aceruloplasminemia. ⁶² ²⁴	Kaneko K...Ikeda SI	12484569	2002
45	Anemia and iron overload due to compound heterozygosity for novel ceruloplasmin mutations. ⁶² ²⁴	Bosio S...Camaschella C	12200392	2002
46	Aceruloplasminemia: new clinical, pathophysiological and therapeutic insights. ⁶² ²⁴	Loreal O...Brissot P	12044538	2002
47	Biochemical analysis of a missense mutation in aceruloplasminemia. ⁶² ²⁴	Hellman NE...Gitlin JD	11689569	2002
48	A novel mutation of the ceruloplasmin gene in a patient with heteroallelic ceruloplasmin gene mutation (HypoCPGM). ⁶² ²⁴	Daimon M...Kato T	10997552	2000
49	Aceruloplasminemia with a novel mutation associated with parkinsonism. ⁶² ²⁴	Kohno S...Inoue Y	10983721	2000
50	Alternative RNA splicing generates a glycosylphosphatidylinositol-anchored form of ceruloplasmin in mammalian brain. ⁶² ²⁴	Patel BN...David S	10660599	2000

Sources

Genes for Aceruloplasminemia

Genes related to Aceruloplasminemia (31 elite genes):

(show top 50) (show all 108)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	CP	Ceruloplasmin	Protein Coding	1469	Molecular basis known ⁵⁷ Pathogenic ⁵ Causative germline mutation (loss of function) ⁵⁸ Genetic Tests ²⁸ Typically genetic variations that lead to apparently abnormal laboratory test values ⁵⁷ Likely pathogenic ⁵ DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications Summaries Pathways & Interactions (show sections)	1458725 2016084 3574673 (more) 5675426 5912351 7539672 7708681 7820540 8641692 8789443 11756598 15082597 16629161 25864092 26777753 12351628 19095659 20301666 27753142 28012953 32235485
2	SETX	Senataxin	Protein Coding	428.75	Pathogenic ⁵ Likely pathogenic ⁵ DISEASES inferred ¹⁴
3	CACNA1A	Calcium Voltage-Gated Channel Subunit Alpha1 A	Protein Coding	428.18	Pathogenic ⁵ Likely pathogenic ⁵ DISEASES inferred ¹⁴
4	KCNN2	Potassium Calcium-Activated Channel Subfamily N Member 2	Protein Coding	425	Pathogenic ⁵ Likely pathogenic ⁵
5	LOC101927078	Uncharacterized LOC101927078	RNA Gene	425	Pathogenic ⁵ Likely pathogenic ⁵
6	MT-ATP6	Mitochondrially Encoded ATP Synthase Membrane Subunit 6	Protein Coding	425	Pathogenic ⁵ Likely pathogenic ⁵	26633545 32581362
7	PMM2	Phosphomannomutase 2	Protein Coding	425	Pathogenic ⁵ Likely pathogenic ⁵	32581362
8	STXBP1	Syntaxin Binding Protein 1	Protein Coding	425	Pathogenic ⁵ Likely pathogenic ⁵
9	SURF1	SURF1 Cytochrome C Oxidase Assembly Factor	Protein Coding	425	Pathogenic ⁵ Likely pathogenic ⁵
10	PLA2G6	Phospholipase A2 Group VI	Protein Coding	406.8	Pathogenic ⁵ DISEASES inferred ¹⁴	32581362
11	NPC1	NPC Intracellular Cholesterol Transporter 1	Protein Coding	403.57	Pathogenic ⁵ DISEASES inferred ¹⁴
12	AFG3L2	AFG3 Like Matrix AAA Peptidase Subunit 2	Protein Coding	403.37	Pathogenic ⁵ DISEASES inferred ¹⁴	32219868
13	SLC2A1	Solute Carrier Family 2 Member 1	Protein Coding	403.08	Pathogenic ⁵ DISEASES inferred ¹⁴
14	ATM	ATM Serine/Threonine Kinase	Protein Coding	400	Pathogenic ⁵
15	ATP6V0A1	ATPase H+ Transporting V0 Subunit A1	Protein Coding	400	Pathogenic ⁵
16	C11orf65	Chromosome 11 Open Reading Frame 65	Protein Coding	400	Pathogenic ⁵
17	CEP104	Centrosomal Protein 104	Protein Coding	400	Pathogenic ⁵	32581362
18	COQ4	Coenzyme Q4	Protein Coding	400	Pathogenic ⁵
19	CSMD1	CUB And Sushi Multiple Domains 1	Protein Coding	400	Pathogenic ⁵	35351988
20	FLNC	Filamin C	Protein Coding	400	Pathogenic ⁵
21	FLNC-AS1	FLNC Antisense RNA 1	RNA Gene	400	Pathogenic ⁵
22	HARS1	Histidyl-TRNA Synthetase 1	Protein Coding	400	Pathogenic ⁵
23	KCNJ10	Potassium Inwardly Rectifying Channel Subfamily J Member 10	Protein Coding	400	Pathogenic ⁵	32581362
24	KIF1C	Kinesin Family Member 1C	Protein Coding	400	Pathogenic ⁵	32581362
25	KLC2	Kinesin Light Chain 2	Protein Coding	400	Pathogenic ⁵
26	LOC105377785	Uncharacterized LOC105377785	RNA Gene	400	Pathogenic ⁵	35351988
27	LRCH2	Leucine Rich Repeats And Calponin Homology Domain Containing 2	Protein Coding	400	Pathogenic ⁵	35351988
28	MT-TE	Mitochondrially Encoded TRNA-Glu (GAA/G)	RNA Gene	400	Pathogenic ⁵
29	PEX6	Peroxisomal Biogenesis Factor 6	Protein Coding	400	Pathogenic ⁵
30	SATB2	SATB Homeobox 2	Protein Coding	400	Pathogenic ⁵
31	TDP2	Tyrosyl-DNA Phosphodiesterase 2	Protein Coding	400	Pathogenic ⁵
32	CIZ1	CDKN1A Interacting Zinc Finger Protein 1	Protein Coding	25	Likely pathogenic ⁵
33	COQ8A	Coenzyme Q8A	Protein Coding	25	Likely pathogenic ⁵
34	DNM1	Dynamin 1	Protein Coding	25	Likely pathogenic ⁵
35	KIF7	Kinesin Family Member 7	Protein Coding	25	Likely pathogenic ⁵
36	MFN2	Mitofusin 2	Protein Coding	25	Likely pathogenic ⁵
37	MLC1	Modulator Of VRAC Current 1	Protein Coding	25	Likely pathogenic ⁵
38	NCDN	Neurochondrin	Protein Coding	25	Likely pathogenic ⁵
39	PCDH12	Protocadherin 12	Protein Coding	25	Likely pathogenic ⁵	30459466
40	PNPLA6	Patatin Like Phospholipase Domain Containing 6	Protein Coding	25	Likely pathogenic ⁵
41	PRKCG	Protein Kinase C Gamma	Protein Coding	25	Likely pathogenic ⁵
42	PTRH2	Peptidyl-TRNA Hydrolase 2	Protein Coding	25	Likely pathogenic ⁵
43	RNF14	Ring Finger Protein 14	Protein Coding	25	Likely pathogenic ⁵	30459466
44	SCN8A	Sodium Voltage-Gated Channel Alpha Subunit 8	Protein Coding	25	Likely pathogenic ⁵
45	SEPSECS	Sep (O-Phosphoserine) TRNA:Sec (Selenocysteine) TRNA Synthase	Protein Coding	25	Likely pathogenic ⁵
46	SNX14	Sorting Nexin 14	Protein Coding	25	Likely pathogenic ⁵
47	SPART	Spartin	Protein Coding	25	Likely pathogenic ⁵
48	SPTBN2	Spectrin Beta, Non-Erythrocytic 2	Protein Coding	25	Likely pathogenic ⁵
49	SYNE1	Spectrin Repeat Containing Nuclear Envelope Protein 1	Protein Coding	25	Likely pathogenic ⁵
50	SYNGAP1	Synaptic Ras GTPase Activating Protein 1	Protein Coding	25	Likely pathogenic ⁵

Sources

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