ASAT
MCID: ANM046
MIFTS: 53

Anemia, Sideroblastic, and Spinocerebellar Ataxia (ASAT)

Categories: Blood diseases, Bone diseases, Genetic diseases, Immune diseases, Metabolic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Anemia, Sideroblastic, and Spinocerebellar Ataxia

MalaCards integrated aliases for Anemia, Sideroblastic, and Spinocerebellar Ataxia:

Name: Anemia, Sideroblastic, and Spinocerebellar Ataxia 56 71
X-Linked Sideroblastic Anemia with Ataxia 12 52 58 29 6 15
X-Linked Sideroblastic Anemia and Ataxia 12 24 52 25
Asat 56 52 73
X-Linked Sideroblastic Anemia and Spinocerebellar Ataxia 52 58
Anemia Sideroblastic and Spinocerebellar Ataxia 12 52
Anemia, Sideroblastic, with Ataxia 56 13
Pagon Bird Detter Syndrome 52 73
Pagon-Bird-Detter Syndrome 52 58
Xlsa-a 52 58
Sideroblastic Anemia with Spinocerebellar Ataxia 52
Anemia Sideroblastic, and Spinocerebellar Ataxia 39
Anemia, Sideroblastic, Spinocerebellar Ataxia 73
X-Linked Sideroblastic Anaemia with Ataxia 12
X-Linked Sideroblastic Anaemia and Ataxia 12
Sideroblastic Anemia and Ataxia 6
Xlsa/a 25

Characteristics:

Orphanet epidemiological data:

58
x-linked sideroblastic anemia and spinocerebellar ataxia
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood,Infancy; Age of death: normal life expectancy;

OMIM:

56
Miscellaneous:
onset in early childhood

Inheritance:
x-linked recessive


HPO:

31
anemia, sideroblastic, and spinocerebellar ataxia:
Onset and clinical course juvenile onset
Inheritance x-linked recessive inheritance


Classifications:

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


External Ids:

Disease Ontology 12 DOID:0050554
OMIM 56 301310
ICD10 via Orphanet 33 D64.0
UMLS via Orphanet 72 C1845028
Orphanet 58 ORPHA2802
MedGen 41 C1845028
UMLS 71 C1845028

Summaries for Anemia, Sideroblastic, and Spinocerebellar Ataxia

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2802 Definition X-linked sideroblastic anemia and ataxia (XLSA-A) is a rare syndromic, inherited form of sideroblastic anemia (see this term) characterized by mild to moderate anemia (with hypochromia and microcytosis) and early-onset, non- or slowly progressive spinocerebellar ataxia. Epidemiology The prevalence is unknown. Only 10 genetically confirmed patients have been reported to date. Clinical description XLSA-A usually presents before the age of 3 years. Anemia is usually asymptomatic. In males, spinocerebellar symptoms are apparent in childhood and can include delayed walking, predominantly truncal ataxia, dysmetria and dysdiadochokinesis. Dysarthria and intention tremor are sometimes present. Ataxia may improve over time, but in the fifth to sixth decade of life a slow deterioration of walking is noted. Upper motor neuron signs in the legs such as equivocal or extensor plantar responses, brisk deep tendon reflexes and unsustained ankle clonus are sometimes present. Strabismus , as well as mild learning disability and depression, have also been reported in some, but intellectual abilities are generally within the normal range. Hepatic and systemic iron overload does not occur. Females are clinically asymptomatic. Etiology XLSA-A is caused by mutations in the ABCB7 gene (Xq13.3), encoding a mitochondrial ATP-binding cassette (ABC) transporter protein , which plays a role in heme production and iron homeostasis. A mutation in this gene alters the availability of reduced iron and therefore disrupts heme biosynthesis. The ABCB7 gene is highly expressed in both the bone marrow and the cerebellum, which may explain ataxia. Diagnostic methods Diagnosis is based on the presence of characteristic neurological and blood test findings. Mild to moderate hypochromic, microcytic anemia is noted in all males and both whole blood total erythrocyte protoporphyrin (TEP) and zinc erythrocyte protoporphyrin (ZnEP) are elevated. Bone marrow examination demonstrates the presence of increased iron stores with ring sideroblasts and peripheral blood smear reveals Pappenheimer bodies. In the majority of cases magnetic resonance imaging (MRI) shows cerebellar atrophy/hypoplasia. Female carriers display hematological abnormalities. Molecular genetic testing identifies a ABCB7 gene mutation, confirming the diagnosis. Differential diagnosis The main differential diagnosis includes other forms/causes of ataxia that typically present before the age of 3 years such as ataxia-telangiectasia, infantile-onset spinocerebellar ataxia, congenital disorder of glycosylation, and cerebellar malformations (e.g. Dandy-Walker malformation) (see these terms). Ataxia with vitamin E deficiency, Friedreich ataxia, ataxia - oculomotor apraxia type 1 and 2, and X linked sideroblastic anemia (see these terms), the most common form of congenital sideroblastic anemia (without ataxia), should also be excluded. Antenatal diagnosis Prenatal testing is possible in families with a known ABCB7 mutation. Genetic counseling XLSA-A is inherited in an X-linked recessive manner and genetic counseling is possible. Males who inherit the mutation from their mother will be affected while females who inherit the mutation from their father or mother will be carriers and are clinically asymptomatic. Management and treatment There is no cure for XLSA-A and treatment is symptomatic. Anemia does not require treatment. Early physical therapy may aid in the acquisition of gross motor skills. Ankle fixation orthoses and walkers may be required to aid with mobility. Weighted eating utensils promote independent skills in children. Speech therapy is recommended for those with dysarthria. Crutches or a wheelchair may be needed by some patients. Prognosis While prognosis information is limited due to very few existing reports, XLSA-A does not appear to have a significant impact on life expectancy. Quality of life, however, can be significantly affected. Visit the Orphanet disease page for more resources.

MalaCards based summary : Anemia, Sideroblastic, and Spinocerebellar Ataxia, also known as x-linked sideroblastic anemia with ataxia, is related to microcytic anemia and deficiency anemia, and has symptoms including clonus, dysdiadochokinesis and action tremor. An important gene associated with Anemia, Sideroblastic, and Spinocerebellar Ataxia is ABCB7 (ATP Binding Cassette Subfamily B Member 7), and among its related pathways/superpathways is Mitochondrial iron-sulfur cluster biogenesis. The drugs Diclofenac and Methimazole have been mentioned in the context of this disorder. Affiliated tissues include bone marrow, bone and liver, and related phenotypes are neurological speech impairment and ataxia

Disease Ontology : 12 A sideroblastic anemia that is characterized by decreased production of hemoglobin and ataxia and has material basis in the mutation in the ABCB7 gene.

Genetics Home Reference : 25 X-linked sideroblastic anemia and ataxia is a rare condition characterized by a blood disorder called sideroblastic anemia and movement problems known as ataxia. This condition occurs only in males. Sideroblastic anemia results when developing red blood cells called erythroblasts do not make enough hemoglobin, which is the protein that carries oxygen in the blood. People with X-linked sideroblastic anemia and ataxia have mature red blood cells that are smaller than normal (microcytic) and appear pale (hypochromic) because of the shortage of hemoglobin. This disorder also leads to an abnormal accumulation of iron in red blood cells. The iron-loaded erythroblasts, which are present in bone marrow, are called ring sideroblasts. These abnormal cells give the condition its name. Unlike other forms of sideroblastic anemia, X-linked sideroblastic anemia and ataxia does not cause a potentially dangerous buildup of iron in the body. The anemia is typically mild and usually does not cause any symptoms. X-linked sideroblastic anemia and ataxia causes problems with balance and coordination that appear early in life. The ataxia primarily affects the trunk, making it difficult to sit, stand, and walk unassisted. In addition to ataxia, people with this condition often have trouble coordinating movements that involve judging distance or scale (dysmetria) and find it difficult to make rapid, alternating movements (dysdiadochokinesis). Mild speech difficulties (dysarthria), tremor, and abnormal eye movements have also been reported in some affected individuals.

UniProtKB/Swiss-Prot : 73 Anemia, sideroblastic, spinocerebellar ataxia: An X-linked recessive disorder characterized by an infantile to early childhood onset of non-progressive cerebellar ataxia and mild anemia, with hypochromia and microcytosis.

More information from OMIM: 301310
GeneReviews: NBK1321

Related Diseases for Anemia, Sideroblastic, and Spinocerebellar Ataxia

Diseases related to Anemia, Sideroblastic, and Spinocerebellar Ataxia via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 58)
# Related Disease Score Top Affiliating Genes
1 microcytic anemia 30.5 GLRX5 ALAS2 ACO1
2 deficiency anemia 29.9 U2AF1 SLC25A38 SLC25A37 ACO1
3 sideroblastic anemia 29.7 SLC25A38 GLRX5 FXN FECH ALAS2 ACO1
4 anemia, sideroblastic, 1 27.8 SLC25A38 SLC25A37 ISCA2 IBA57 GLRX5 FXN
5 ataxia and polyneuropathy, adult-onset 10.4
6 x-linked cerebellar ataxia 10.4 ALAS2 ABCB7
7 x-linked protoporphyria 10.3 FECH ALAS2
8 spasticity 10.2
9 anemia, x-linked, with or without neutropenia and/or platelet abnormalities 10.2
10 autosomal dominant cerebellar ataxia 10.2
11 strabismus 10.2
12 hereditary ataxia 10.2
13 x-linked hereditary ataxia 10.2
14 learning disability 10.2
15 mechanical strabismus 10.2
16 pathologic nystagmus 10.2
17 spastic paraparesis 10.2
18 tremor 10.2
19 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 10.2 U2AF1 FXN
20 myopathy, lactic acidosis, and sideroblastic anemia 1 10.2 SLC25A38 HSCB
21 mental retardation, x-linked, with cerebellar hypoplasia and distinctive facial appearance 10.2 FXN ABCB7
22 alcohol dependence 10.2
23 alveolar soft part sarcoma 10.2
24 anxiety 10.2
25 myocardial infarction 10.2
26 diabetes mellitus, ketosis-prone 10.2
27 plague 10.2
28 liver cirrhosis 10.2
29 acute myocardial infarction 10.2
30 x-linked recessive disease 10.1 U2AF1 ALAS2 ABCB7
31 hypochromic microcytic anemia 10.1 SLC25A38 ALAS2 ACO1
32 hemosiderosis 10.1 FXN ALAS2 ACO1
33 spastic paraplegia 38, autosomal dominant 10.1 FECH ACO1
34 macrocytic anemia 10.0 U2AF1 FECH ALAS2
35 pearson marrow-pancreas syndrome 10.0 SLC25A38 GLRX5 ALAS2 ABCB7
36 coproporphyria, hereditary 10.0 FECH ALAS2
37 porphyria, acute intermittent 10.0 FECH ALAS2
38 cutaneous porphyria 9.9 SLC25A37 FECH ALAS2
39 neurodegeneration with brain iron accumulation 9.8 SLC25A37 FXN ACO1
40 hyperferritinemia with or without cataract 9.8 SLC25A37 ALAS2 ACO1 ABCB7
41 mitochondrial myopathy 9.7 NFS1 ISCU HSCB FXN
42 friedreich ataxia 9.7 ISCU FXN FECH ACO1 ABCB7
43 multiple mitochondrial dysfunctions syndrome 1 9.6 NFU1 ISCU IBA57 HSCB
44 combined oxidative phosphorylation deficiency 19 9.6 NFS1 ISCU ISCA2 GLRX5
45 aceruloplasminemia 9.6 SLC25A37 FXN ALAS2 ACO1 ABCB7
46 pyruvate dehydrogenase e1-alpha deficiency 9.5 NFU1 IBA57
47 acute porphyria 9.5 SLC25A38 SLC25A37 FECH ALAS2 ACO1
48 autosomal recessive cerebellar ataxia 9.4 U2AF1 NFS1 ISCU HSCB FXN ACO1
49 hemochromatosis, type 1 9.3 SLC25A37 FXN FECH ALAS2 ACO1 ABCB7
50 lactic acidosis 9.2 NFU1 ISCU ISCA2 IBA57

Graphical network of the top 20 diseases related to Anemia, Sideroblastic, and Spinocerebellar Ataxia:



Diseases related to Anemia, Sideroblastic, and Spinocerebellar Ataxia

Symptoms & Phenotypes for Anemia, Sideroblastic, and Spinocerebellar Ataxia

Human phenotypes related to Anemia, Sideroblastic, and Spinocerebellar Ataxia:

58 31 (show all 21)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 neurological speech impairment 58 31 hallmark (90%) Very frequent (99-80%) HP:0002167
2 ataxia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001251
3 anemia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001903
4 nystagmus 58 31 hallmark (90%) Very frequent (99-80%) HP:0000639
5 global developmental delay 58 31 frequent (33%) Frequent (79-30%) HP:0001263
6 hyperreflexia 58 31 frequent (33%) Frequent (79-30%) HP:0001347
7 muscular hypotonia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001252
8 scoliosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002650
9 strabismus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000486
10 intrauterine growth retardation 58 31 occasional (7.5%) Occasional (29-5%) HP:0001511
11 abnormality of metabolism/homeostasis 31 HP:0001939
12 abnormality of movement 58 Frequent (79-30%)
13 dysarthria 31 HP:0001260
14 clonus 31 HP:0002169
15 dysmetria 31 HP:0001310
16 dysdiadochokinesis 31 HP:0002075
17 babinski sign 31 HP:0003487
18 intention tremor 31 HP:0002080
19 hypochromic microcytic anemia 31 HP:0004840
20 nonprogressive cerebellar ataxia 31 HP:0002470
21 sideroblastic anemia 31 HP:0001924

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
hyperreflexia
dysarthria
clonus
dysmetria
dysdiadochokinesis
more
Laboratory Abnormalities:
increased free erythrocyte protoporphyrin
lack of excessive parenchymal iron storage

Hematology:
hypochromic, microcytic anemia
ringed sideroblasts on bone marrow examination

Clinical features from OMIM:

301310

UMLS symptoms related to Anemia, Sideroblastic, and Spinocerebellar Ataxia:


clonus, dysdiadochokinesis, action tremor

GenomeRNAi Phenotypes related to Anemia, Sideroblastic, and Spinocerebellar Ataxia according to GeneCards Suite gene sharing:

26 (show all 13)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-10 9.5 ACO1
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-100 9.5 ISCU
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-135 9.5 ISCU
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-14 9.5 ACO1
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-142 9.5 ISCU
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-159 9.5 ISCU
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-173 9.5 FXN HSCB
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-33 9.5 HSCB
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-54 9.5 ACO1
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-66 9.5 ACO1
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-86 9.5 HSCB
12 Decreased shRNA abundance (Z-score < -2) GR00366-A-95 9.5 FXN HSCB ISCU
13 Decreased shRNA abundance GR00297-A 9.43 ABCB7 GLRX5 ISCA1 ISCA2 NFS1 SLC25A38

Drugs & Therapeutics for Anemia, Sideroblastic, and Spinocerebellar Ataxia

Drugs for Anemia, Sideroblastic, and Spinocerebellar Ataxia (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 145)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Diclofenac Approved, Vet_approved Phase 4 15307-86-5 3033
2
Methimazole Approved Phase 4 60-56-0 1349907
3
Metoprolol Approved, Investigational Phase 4 37350-58-6, 51384-51-1 4171
4
Propranolol Approved, Investigational Phase 4 525-66-6 4946
5 Antihypertensive Agents Phase 4
6 Neurotransmitter Agents Phase 4
7 Cyclooxygenase Inhibitors Phase 4
8 Adrenergic beta-1 Receptor Antagonists Phase 4
9 Antithyroid Agents Phase 4
10 Adrenergic Agents Phase 4
11 Sympatholytics Phase 4
12 Adrenergic Antagonists Phase 4
13 Anti-Arrhythmia Agents Phase 4
14 Vasodilator Agents Phase 4
15 Adrenergic beta-Antagonists Phase 4
16
Angiotensin II Approved, Investigational Phase 3 4474-91-3, 11128-99-7, 68521-88-0 172198
17
Trastuzumab Approved, Investigational Phase 3 180288-69-1 9903
18
Candesartan cilexetil Approved Phase 3 145040-37-5 2540
19
Heparin Approved, Investigational Phase 3 9005-49-6 46507594 772
20
Prednisone Approved, Vet_approved Phase 2, Phase 3 53-03-2 5865
21
Budesonide Approved Phase 2, Phase 3 51333-22-3 63006 5281004
22
Citalopram Approved Phase 3 59729-33-8 2771
23
Melphalan Approved Phase 3 148-82-3 460612 4053
24
Peginterferon alfa-2a Approved, Investigational Phase 3 198153-51-4 5360545
25
Ribavirin Approved Phase 3 36791-04-5 37542
26
Enoxaparin Approved Phase 3 9005-49-6 772
27
Dalteparin Approved Phase 3 9005-49-6
28
Tinzaparin Approved Phase 3 9041-08-1, 9005-49-6 25244225
29
Aspirin Approved, Vet_approved Phase 3 50-78-2 2244
30
Irinotecan Approved, Investigational Phase 3 97682-44-5, 100286-90-6 60838
31
Capecitabine Approved, Investigational Phase 3 154361-50-9 60953
32
Oxaliplatin Approved, Investigational Phase 3 61825-94-3 43805 6857599 5310940 9887054
33
Simvastatin Approved Phase 3 79902-63-9 54454
34
Acetylcarnitine Approved, Investigational Phase 3 3040-38-8 7045767
35
Cisplatin Approved Phase 3 15663-27-1 2767 441203 84093
36
Topiramate Approved Phase 3 97240-79-4 5284627
37
Folic acid Approved, Nutraceutical, Vet_approved Phase 3 59-30-3 6037
38
Candesartan Experimental Phase 3 139481-59-7 2541
39 Angiotensin II Type 1 Receptor Blockers Phase 3
40 Angiotensinogen Phase 3
41 Angiotensin Receptor Antagonists Phase 3
42 Giapreza Phase 3
43 calcium heparin Phase 3
44 Respiratory System Agents Phase 2, Phase 3
45 Anti-Asthmatic Agents Phase 2, Phase 3
46 Bronchodilator Agents Phase 2, Phase 3
47 Antidepressive Agents Phase 3
48 interferons Phase 3
49 Interferon-alpha Phase 3
50 Anti-Infective Agents Phase 3

Interventional clinical trials:

(show all 47)
# Name Status NCT ID Phase Drugs
1 Magnesium After Alcohol Withdrawal Treatment Completed NCT00325299 Phase 4 Magnesium
2 Adjuvant Treatment of Graves´ Ophthalmopathy With NSAID (aGO Study) Completed NCT01458600 Phase 4 Diclofenac;Methimazole;L-thyroxin;Propranolol;Metoprolol
3 Prospective, Randomized, Pharmacological Intervention Study; Evaluating Effect of the Angiotensin II-receptor (AT1) Blocker Candesartan vs Placebo in Prevention of Trastuzumab-associated Cardiotoxicity in Patients Treated With Trastuzumab Completed NCT00459771 Phase 3 AT1 blocker candesartan;Placebo
4 Efficacy and Safety of Budesonide Capsules (3x3mg/d)Versus Prednisone in Patients With a Diagnose of Active Autoimmune Hepatitis. A Double-blind, Randomized, Active-controlled, Multicentre Study Completed NCT00838214 Phase 2, Phase 3 budesonide;prednisone
5 GISMM2001: Melphalan 200 mg/m2 Versus Melphalan 100 mg/m2 in Newly Diagnosed Myeloma Patients: a Prospective, Multi-center Phase III Study Completed NCT00950768 Phase 3
6 Efficacy and Tolerability of Escitalopram for the Prevention of Pegylated Interferon Alfa Associated Depression in Patients With Chronic Hepatitis C Infection: a Randomized Controlled Trial. Completed NCT00136318 Phase 3 Escitalopram;Placebo;Peginterferon alfa-2a;Ribavirin
7 Low Molecular Weight Heparin, Enoxaparin, to Prevent Adverse Maternal and Perinatal Outcomes in Women With Previous Severe Preeclampsia at Less Than 34 Weeks' Gestation. A Prospective Randomized Trial Completed NCT00986765 Phase 3 Lovenox® (enoxaparin);Aspegic ® (Aspirin)
8 A Randomised Study of Sequential Versus Combination Chemotherapy in Patients With Previously Untreated Advanced Colorectal Carcinoma Completed NCT00312000 Phase 3 capecitabine-irinotecan;capecitabine+irinotecan (1st line)
9 Treatment of Graves´Ophthalmopathy With Simvastatin (GO-DS) Recruiting NCT03131726 Phase 3 Simvastatin 40mg
10 Totum-63 Effect on Glucose and Lipid Homeostasis in People With Abdominal Obesity Associated With Impaired Glucose Tolerance or Untreated Type 2 Diabetes and Hypertriglyceridemia Active, not recruiting NCT02868177 Phase 2, Phase 3
11 Randomized, Double-blind, Placebo-controlled Phase 3 Trial to Assess the Efficacy and Safety of Acetyl-L-carnitine in Combination With a Cisplatin-containing Chemotherapy as First Line Treatment of Advanced or Metastatic Non Small Cell Lung Cancer Terminated NCT01379976 Phase 3 Acetylcarnitine;Placebo
12 Randomized, Placebo Controlled Double-blind Study of the Efficacy of Topiramate on the Symptoms of Irritability - Impulsivity, Overeating and Self-harm in a Population of Patients Suffering From Prader Willi Syndrome Over 8 Weeks Terminated NCT02810483 Phase 3 Topiramate;Placebo Comparator
13 Open-Label, Uncontrolled, Multicenter, Phase II Study Evaluating the Efficacy and Safety of Cetuximab in Combination With Cisplatin & Gemcitabine as First-Line Therapy in Patients With Advanced Non Small Cell Lung Cancer Unknown status NCT00561054 Phase 2 CETUXIMAB
14 A Phase II Study of the Association of Glivec® (Imatinib Mesylate, Formerly Known as STI 571) Plus Gemzar® (Gemcitabine) in Patients With Unresectable, Refractory, Malignant Mesothelioma Expressing Either PDGFR-Beta or C-Kit Unknown status NCT00551252 Phase 2 Imatinib mesylate plus Gemcitabine
15 Phase IIb Immunogenicity, Efficacy and Safety Study of P. Falciparum Vaccine Candidate, MSP3-LSP Adjuvanted in Aluminium Hydroxide Versus Verorab Control in Healthy Children Aged 12-48 Months in Mali. Unknown status NCT00652275 Phase 2
16 Gentuzumab Ozogamicin Berfore Allogeneic Stem Cell Transplantation in Patients With Relapsed CD33+ Acute Myeloid Leukemia Unknown status NCT00460447 Phase 1, Phase 2 Gemtuzumab Ozogamicin
17 An Open-label Single Arm Phase 2 Proof of Concept Study to Assess the Efficacy and Safety of ASCT01 in Patients With Critical Limb Ischemia Completed NCT01867190 Phase 2
18 Lipidrive Dietary Supplement Tolerance Study Based on Blood, Urine, and Hemodynamic Biological Parameters. Completed NCT03052062 Phase 1, Phase 2
19 A Safety and Efficacy Study to Evaluate Intravenous Heme Arginate Infusion in Patients With an Acute Coronary Syndrome Without ST-elevation (NSTEMI) Completed NCT00483587 Phase 1, Phase 2 Heme arginate
20 Effect of Different Weight Vests on Body Weight in Obese Individuals Completed NCT03672903 Phase 1, Phase 2
21 Pre- and Postoperative Chemotherapy Including Bevacizumab in Potentially Curable Metastatic Colorectal Cancer (mCRC). A Multicenter, Single Arm Phase I/II Academic Trial Completed NCT00444041 Phase 1, Phase 2 Bevacizumab
22 Therapy for Chronic Cold Agglutinin Disease: A Prospective, Non-randomized International Multicentre Study on the Safety and Efficacy of Rituximab in Combination With Fludarabine. Completed NCT00373594 Phase 2 Rituximab;Fludarabine
23 Testosterone and Physical Function in HIV Associate Weight Loss Completed NCT00260143 Phase 2 Testosterone enanthate;Placebo
24 Evaluation of the Effect of Bezafibrate on Muscle Metabolism During Exercise in Patients With CPTII and VLCAD Deficiency Completed NCT00983788 Phase 2 Bezafibrate
25 The Effect of Statins on D-dimer Levels in Patients With a Previous Venous Thromboembolic Event Terminated NCT00437892 Phase 2 atorvastatin;atorvastatin
26 Bi-center, Open Label, Non-comparative Trial Exploring Efficacy and Safety of Topical Resiquimod Gel (0.06%) in Patients With Nodular Basal Cell Carcinoma (nBCC) Terminated NCT01808950 Phase 1, Phase 2 0.06% Resiquimod Gel - A;0.06% Resiquimod Gel - B;0.06% Resiquimod Gel - C
27 A Multisite Randomized, Double-Blind, Placebo-Controlled Trial Evaluating Pitolisant (BF2.649) For Alcohol Use Disorder Treatment Withdrawn NCT02800083 Phase 2 Pitolisant (BF2.649);Placebo
28 Randomized Controlled Trial to Evaluate the Safety and Immunogenicity of Recombinant Pichia Pastoris-Expressed P. Falciparum Apical Membrane Antigen 1 (PfAMA-1-FVO[25-545]) Versus Tetanus Toxoid, in Healthy Malian Adult in Bandiagara Unknown status NCT00431808 Phase 1
29 Valedia Dietary Supplement Tolerance Study Based on Blood, Urinary and Hemodynamic Biological Parameters Completed NCT02790489 Phase 1
30 Impact of Dysmetabolic Iron Overload Syndrome on Polarization Capacity of Macrophages Unknown status NCT02066012
31 Impact of Preoperative 4-week Supplementation With Omega-3 Polyunsaturated Fatty Acids on Liver Volume and Steatosis to Facilitate Bariatric Surgery in Morbdly Obese Patients : the " Omegaobese Study ". Unknown status NCT03006016 Omega-3 Fatty Acid
32 Delayed Primary Versus Late Secondary Wound Closure in the Treatment of Postsurgical Sternum Osteomyelitis Unknown status NCT01473979
33 Renal and Digestive Tolerance of a Food Supplement, Phytalgic, in Elderly Volunteers - A Multicentric Open Trial Completed NCT01203670
34 Heparin-induced Thrombocytopenia (HIT II) in Liver Transplant Recipients: a Prospective Multivariate Analysis of Prognostic Factors and Haemostaseological Findings Completed NCT01654848
35 The Effect of Purple Sweet Potato (PSP)-Juice on Liver Enzymes and Blood Pressure Completed NCT00962195
36 The Effect of the EndoBarrier Device: A 3-year Follow up of a Randomized Clinical Trial Completed NCT02566330
37 Anticancer Treatment of Breast Cancer Related to Cardiotoxicity and Dysfunctional Endothelium Completed NCT02652975
38 Phase II Study, Stratified, Non-randomized, Estimating SBRT Efficiency and Toxicity in Primary and Secondary Liver Tumors Recruiting NCT03408665
39 Diagnostic Pathway for Surgical Patients With Suspected Bile Duct Obstruction Recruiting NCT02351492
40 Treatment of Severely Obese Children and Adolescents in Common Health Care Settings: An Effectiveness Study Employing "Family-based Behavioral Social Facilitation Treatment" Recruiting NCT02687516
41 Association Between Toe-brachial Index and Coronary Calcification in Asymptomatic Patients With Type 1 and Type 2 Diabetes Mellitus Recruiting NCT03920683
42 Evaluation of Chronic Pathologies Impact and Their Treatments on Children and Teen Physical Fitness. Recruiting NCT03913962
43 The Effect of Curcumin on Liver Fat Content in Obese Subjects Recruiting NCT03864783 Placebo Oral Tablet
44 The Effect of Curcumin on the Development of Prednisolone-induced Hepatic Insulin Resistance in Overweight and Obese Participants Recruiting NCT04315350 Curcumin Liposome;Prednisolone;Placebos
45 Exploring the Effect of Methylphenidate and Antidepressants on Cardiac Repolarisation. Active, not recruiting NCT03642405
46 Study of Maintenance of the Efficiency and Adverse Effects of Pharmacological Treatments in Sex Offenders With Paraphilia Not yet recruiting NCT04316650
47 A Randomized Controlled Trial Comparing a New State-of-the-art Non Ischemic Heart Preservation Method With the Standard Ischemic Cold Static Storage Method of Donor Hearts in Adult Heart Transplantation Not yet recruiting NCT04066127

Search NIH Clinical Center for Anemia, Sideroblastic, and Spinocerebellar Ataxia

Genetic Tests for Anemia, Sideroblastic, and Spinocerebellar Ataxia

Genetic tests related to Anemia, Sideroblastic, and Spinocerebellar Ataxia:

# Genetic test Affiliating Genes
1 X-Linked Sideroblastic Anemia with Ataxia 29 ABCB7

Anatomical Context for Anemia, Sideroblastic, and Spinocerebellar Ataxia

MalaCards organs/tissues related to Anemia, Sideroblastic, and Spinocerebellar Ataxia:

40
Bone Marrow, Bone, Liver, Eye, Cerebellum, Testes, Whole Blood

Publications for Anemia, Sideroblastic, and Spinocerebellar Ataxia

Articles related to Anemia, Sideroblastic, and Spinocerebellar Ataxia:

(show all 48)
# Title Authors PMID Year
1
Human ABC7 transporter: gene structure and mutation causing X-linked sideroblastic anemia with ataxia with disruption of cytosolic iron-sulfur protein maturation. 6 24 56 61
11050011 2000
2
Mutation of a putative mitochondrial iron transporter gene (ABC7) in X-linked sideroblastic anemia and ataxia (XLSA/A). 24 6 56
10196363 1999
3
Hereditary sideroblastic anaemia and ataxia: an X linked recessive disorder. 56 24 6
4045952 1985
4
X-linked cerebellar ataxia and sideroblastic anaemia associated with a missense mutation in the ABC7 gene predicting V411L. 24 6
11843825 2001
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X-linked sideroblastic anemia and ataxia: linkage to phosphoglycerate kinase at Xq13. 24 56
1671320 1991
6
Iron redistribution as a therapeutic strategy for treating diseases of localized iron accumulation. 24 61
20393584 2010
7
The role of the iron transporter ABCB7 in refractory anemia with ring sideroblasts. 24 61
18398482 2008
8
Abcb7, the gene responsible for X-linked sideroblastic anemia with ataxia, is essential for hematopoiesis. 24 61
17192398 2007
9
The mitochondrial ATP-binding cassette transporter Abcb7 is essential in mice and participates in cytosolic iron-sulfur cluster biogenesis. 24 61
16467350 2006
10
X-Linked Sideroblastic Anemia and Ataxia 6
20301496 2006
11
Iron trafficking in the mitochondrion: novel pathways revealed by disease. 24 61
15528311 2005
12
Identification of a highly polymorphic marker within intron 7 of the ALAS2 gene and suggestion of at least two loci for X-linked sideroblastic anemia. 56
1301172 1992
13
Pathophysiology and genetic mutations in congenital sideroblastic anemia. 24
24003969 2013
14
The transporter ABCB7 is a mediator of the phenotype of acquired refractory anemia with ring sideroblasts. 24
23070040 2013
15
X-linked sideroblastic anemia and ataxia: a new family with identification of a fourth ABCB7 gene mutation. 24
22398176 2012
16
ABC transporters, mechanisms and biology: an overview. 24
21967049 2011
17
Frequent pathway mutations of splicing machinery in myelodysplasia. 24
21909114 2011
18
Evolution of ABC transporters by gene duplication and their role in human disease. 24
21194360 2011
19
Frataxin and mitochondrial FeS cluster biogenesis. 24
20522547 2010
20
Mutation of the mitochondrial tyrosyl-tRNA synthetase gene, YARS2, causes myopathy, lactic acidosis, and sideroblastic anemia--MLASA syndrome. 24
20598274 2010
21
Human iron-sulfur cluster assembly, cellular iron homeostasis, and disease. 24
20481466 2010
22
Iron-sulfur proteins in health and disease. 24
20060739 2010
23
Systematic molecular genetic analysis of congenital sideroblastic anemia: evidence for genetic heterogeneity and identification of novel mutations. 24
19731322 2010
24
The first cellular models based on frataxin missense mutations that reproduce spontaneously the defects associated with Friedreich ataxia. 24
19629184 2009
25
Mitochondrial ABC proteins in health and disease. 24
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26
Mutations in mitochondrial carrier family gene SLC25A38 cause nonsyndromic autosomal recessive congenital sideroblastic anemia. 24
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The wobbly child: an approach to inherited ataxias. 24
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Recent advances in the understanding of inherited sideroblastic anaemia. 24
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Iron-sulfur cluster biogenesis and human disease. 24
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The human counterpart of zebrafish shiraz shows sideroblastic-like microcytic anemia and iron overload. 24
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Mitochondrial ATP-binding cassette proteins. 24
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Selective iron chelation in Friedreich ataxia: biologic and clinical implications. 24
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Missense mutation in pseudouridine synthase 1 (PUS1) causes mitochondrial myopathy and sideroblastic anemia (MLASA). 24
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Pappenheimer bodies: a brief historical review. 24
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Involvement of ABC7 in the biosynthesis of heme in erythroid cells: interaction of ABC7 with ferrochelatase. 24
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The genetics of inherited sideroblastic anemias. 24
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37
X-linked sideroblastic anaemia with ataxia: another mitochondrial disease? 24
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Cloning and chromosomal mapping of a novel ABC transporter gene (hABC7), a candidate for X-linked sideroblastic anemia with spinocerebellar ataxia. 24
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Simultaneous quantitation of zinc protoporphyrin and free protoporphyrin in erythrocytes by acetone extraction. 24
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Erythropoietic protoporphyria and lead intoxication: the molecular basis for difference in cutaneous photosensitivity. I. Different rates of disappearance of protoporphyrin from the erythrocytes, both in vivo and in vitro. 24
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Hereditary Ataxia: A Focus on Heme Metabolism and Fe-S Cluster Biogenesis. 61
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Dimeric ferrochelatase bridges ABCB7 and ABCB10 homodimers in an architecturally defined molecular complex required for heme biosynthesis. 61
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Disruption of the ATP-binding cassette B7 (ABTM-1/ABCB7) induces oxidative stress and premature cell death in Caenorhabditis elegans. 61
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Cell functions impaired by frataxin deficiency are restored by drug-mediated iron relocation. 61
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RNA silencing of the mitochondrial ABCB7 transporter in HeLa cells causes an iron-deficient phenotype with mitochondrial iron overload. 61
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Identification of a novel candidate gene in the iron-sulfur pathway implicated in ataxia-susceptibility: human gene encoding HscB, a J-type co-chaperone. 61
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Spinocerebellar ataxias due to mitochondrial defects. 61
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Variations for Anemia, Sideroblastic, and Spinocerebellar Ataxia

ClinVar genetic disease variations for Anemia, Sideroblastic, and Spinocerebellar Ataxia:

6 (show all 25) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ABCB7 NM_001271696.3(ABCB7):c.1200T>G (p.Ile400Met)SNV Pathogenic 11574 rs72554634 X:74291351-74291351 X:75071516-75071516
2 ABCB7 NM_001271696.3(ABCB7):c.1297G>A (p.Glu433Lys)SNV Pathogenic 11575 rs80356714 X:74290268-74290268 X:75070433-75070433
3 ABCB7 NM_001271696.3(ABCB7):c.1231G>C (p.Val411Leu)SNV Pathogenic 11576 rs80356713 X:74290334-74290334 X:75070499-75070499
4 ABCB7 NM_001271696.3(ABCB7):c.624A>T (p.Glu208Asp)SNV Pathogenic 126455 rs515726147 X:74295428-74295428 X:75075593-75075593
5 ABCB7 NM_001271696.3(ABCB7):c.1235T>C (p.Met412Thr)SNV Likely pathogenic 372878 rs1057518042 X:74290330-74290330 X:75070495-75070495
6 ABCB7 NM_001271696.3(ABCB7):c.246+1G>ASNV Conflicting interpretations of pathogenicity 213973 rs61323727 X:74334588-74334588 X:75114753-75114753
7 ABCB7 NM_001271696.3(ABCB7):c.1936-3C>GSNV Uncertain significance 814010 X:74280168-74280168 X:75060333-75060333
8 ABCB7 NM_001271696.3(ABCB7):c.2073T>C (p.His691=)SNV Uncertain significance 914075 X:74273391-74273391 X:75053556-75053556
9 ABCB7 NM_001271696.3(ABCB7):c.1802A>G (p.Gln601Arg)SNV Uncertain significance 914076 X:74284934-74284934 X:75065099-75065099
10 ABCB7 NM_001271696.3(ABCB7):c.1230A>G (p.Leu410=)SNV Uncertain significance 914587 X:74290335-74290335 X:75070500-75070500
11 ABCB7 NM_001271696.3(ABCB7):c.1200T>C (p.Ile400=)SNV Uncertain significance 914588 X:74291351-74291351 X:75071516-75071516
12 ABCB7 NM_001271696.3(ABCB7):c.*113A>GSNV Uncertain significance 914074 X:74273092-74273092 X:75053257-75053257
13 ALAS2 NM_000032.4(ALAS2):c.-111G>ASNV Uncertain significance 368602 rs754383602 X:55057470-55057470 X:55031037-55031037
14 ABCB7 NM_001271696.3(ABCB7):c.1935+5G>CSNV Uncertain significance 368655 rs763223675 X:74282158-74282158 X:75062323-75062323
15 ABCB7 NM_001271696.3(ABCB7):c.168+13T>CSNV Uncertain significance 368659 rs1057515989 X:74375927-74375927 X:75156092-75156092
16 ABCB7 NM_001271696.3(ABCB7):c.121T>C (p.Trp41Arg)SNV Likely benign 213987 rs143380072 X:74375987-74375987 X:75156152-75156152
17 ABCB7 NM_001271696.3(ABCB7):c.1320T>C (p.Asp440=)SNV Likely benign 368657 rs45598734 X:74290245-74290245 X:75070410-75070410
18 ABCB7 NM_001271696.3(ABCB7):c.1492G>A (p.Gly498Arg)SNV Benign/Likely benign 368656 rs151288786 X:74289163-74289163 X:75069328-75069328
19 ABCB7 NM_001271696.3(ABCB7):c.938G>A (p.Arg313Gln)SNV Benign/Likely benign 136243 rs147584361 X:74293709-74293709 X:75073874-75073874
20 ABCB7 NM_001271696.3(ABCB7):c.945-7C>TSNV Benign/Likely benign 136244 rs5937938 X:74293618-74293618 X:75073783-75073783
21 ABCB7 NM_001271696.3(ABCB7):c.1739C>T (p.Ala580Val)SNV Benign 136245 rs1340989 X:74284997-74284997 X:75065162-75065162
22 ABCB7 NM_001271696.3(ABCB7):c.1740A>G (p.Ala580=)SNV Benign 136246 rs1340990 X:74284996-74284996 X:75065161-75065161
23 ABCB7 NM_001271696.3(ABCB7):c.1032+12A>GSNV Benign 368658 rs148980611 X:74293512-74293512 X:75073677-75073677
24 ABCB7 NM_001271696.3(ABCB7):c.211A>G (p.Lys71Glu)SNV Benign 913727 X:74334624-74334624 X:75114789-75114789
25 ABCB7 NM_001271696.3(ABCB7):c.312C>T (p.Leu104=)SNV Benign 136242 rs140031135 X:74332742-74332742 X:75112907-75112907

UniProtKB/Swiss-Prot genetic disease variations for Anemia, Sideroblastic, and Spinocerebellar Ataxia:

73
# Symbol AA change Variation ID SNP ID
1 ABCB7 p.Ile400Met VAR_009156 rs72554634
2 ABCB7 p.Glu433Lys VAR_012640 rs80356714
3 ABCB7 p.Val411Leu VAR_022874 rs80356713
4 ABCB7 p.Glu208Asp VAR_067354 rs515726147

Expression for Anemia, Sideroblastic, and Spinocerebellar Ataxia

Search GEO for disease gene expression data for Anemia, Sideroblastic, and Spinocerebellar Ataxia.

Pathways for Anemia, Sideroblastic, and Spinocerebellar Ataxia

Pathways related to Anemia, Sideroblastic, and Spinocerebellar Ataxia according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 9.88 SLC25A37 NFS1 ISCU FXN

GO Terms for Anemia, Sideroblastic, and Spinocerebellar Ataxia

Cellular components related to Anemia, Sideroblastic, and Spinocerebellar Ataxia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell GO:0005623 9.73 ISCU GLRX5 FXN ALAS2 ACO1 ABCB7
2 mitochondrial inner membrane GO:0005743 9.63 SLC25A38 SLC25A37 FECH ALAS2 ABCB8 ABCB7
3 mitochondrial matrix GO:0005759 9.61 NFS1 ISCU ISCA2 ISCA1 IBA57 GLRX5
4 mitochondrion GO:0005739 9.53 SLC25A38 SLC25A37 NFU1 NFS1 ISCU ISCA2

Biological processes related to Anemia, Sideroblastic, and Spinocerebellar Ataxia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cellular iron ion homeostasis GO:0006879 9.72 ISCU FXN ALAS2 ACO1 ABCB7
2 protein maturation by iron-sulfur cluster transfer GO:0097428 9.56 NFU1 ISCA2 ISCA1 HSCB
3 heme biosynthetic process GO:0006783 9.55 SLC25A38 IBA57 FXN FECH ALAS2
4 iron ion homeostasis GO:0055072 9.46 SLC25A37 FXN
5 [2Fe-2S] cluster assembly GO:0044571 9.43 NFS1 HSCB
6 small molecule metabolic process GO:0044281 9.43 NFS1 ISCU ISCA2 ISCA1 GLRX5 FXN
7 positive regulation of aconitate hydratase activity GO:1904234 9.4 ISCU FXN
8 iron incorporation into metallo-sulfur cluster GO:0018283 9.37 NFS1 FXN
9 iron-sulfur cluster assembly GO:0016226 9.23 NFU1 NFS1 ISCU ISCA2 ISCA1 IBA57

Molecular functions related to Anemia, Sideroblastic, and Spinocerebellar Ataxia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 metal ion binding GO:0046872 10.06 U2AF1 NFU1 NFS1 ISCU ISCA2 ISCA1
2 iron ion binding GO:0005506 9.54 NFU1 ISCU ISCA2
3 4 iron, 4 sulfur cluster binding GO:0051539 9.46 NFU1 ISCU ISCA2 ACO1
4 ferrous iron binding GO:0008198 9.43 ISCU FXN FECH
5 2 iron, 2 sulfur cluster binding GO:0051537 9.43 ISCU ISCA2 ISCA1 GLRX5 FXN FECH
6 iron-sulfur cluster binding GO:0051536 9.23 NFU1 NFS1 ISCU ISCA2 ISCA1 GLRX5

Sources for Anemia, Sideroblastic, and Spinocerebellar Ataxia

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
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35 IUPHAR
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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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