ASAT
MCID: ANM046
MIFTS: 52

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 57 70
X-Linked Sideroblastic Anemia with Ataxia 12 20 58 29 6 15
X-Linked Sideroblastic Anemia and Ataxia 12 20 43
Asat 57 20 72
X-Linked Sideroblastic Anemia and Spinocerebellar Ataxia 20 58
Anemia Sideroblastic and Spinocerebellar Ataxia 12 20
Anemia, Sideroblastic, with Ataxia 57 13
Pagon Bird Detter Syndrome 20 72
Pagon-Bird-Detter Syndrome 20 58
Xlsa-a 20 58
Sideroblastic Anemia with Spinocerebellar Ataxia 20
Anemia Sideroblastic, and Spinocerebellar Ataxia 39
Anemia, Sideroblastic, Spinocerebellar Ataxia 72
X-Linked Sideroblastic Anaemia with Ataxia 12
X-Linked Sideroblastic Anaemia and Ataxia 12
Sideroblastic Anemia and Ataxia 6
Xlsa/a 43

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®:

57 (Updated 05-Apr-2021)
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® 57 301310
ICD10 via Orphanet 33 D64.0
UMLS via Orphanet 71 C1845028
Orphanet 58 ORPHA2802
MedGen 41 C1845028
UMLS 70 C1845028

Summaries for Anemia, Sideroblastic, and Spinocerebellar Ataxia

GARD : 20 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.

MalaCards based summary : Anemia, Sideroblastic, and Spinocerebellar Ataxia, also known as x-linked sideroblastic anemia with ataxia, is related to microcytic anemia and sideroblastic 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 are Biosynthesis of cofactors and Porphyrin and chlorophyll metabolism. The drugs Citalopram and Methylphenidate have been mentioned in the context of this disorder. Affiliated tissues include bone marrow, eye and whole blood, and related phenotypes are neurological speech impairment and nystagmus

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.

MedlinePlus Genetics : 43 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 : 72 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

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 56)
# Related Disease Score Top Affiliating Genes
1 microcytic anemia 30.5 GLRX5 ALAS2 ACO1
2 sideroblastic anemia 30.0 SLC25A38 GLRX5 FXN FECH ALAS2 ACO1
3 deficiency anemia 29.0 U2AF1 SLC25A38 SLC25A37 ISCA1 FXN FECH
4 anemia, sideroblastic, 1 27.9 SLC25A38 SLC25A37 ISCU ISCA2 ISCA1 HSCB
5 ataxia and polyneuropathy, adult-onset 10.4
6 x-linked cerebellar ataxia 10.3 ALAS2 ABCB7
7 x-linked protoporphyria 10.3 FECH ALAS2
8 spasticity 10.2
9 autosomal dominant cerebellar ataxia 10.2
10 strabismus 10.2
11 hereditary ataxia 10.2
12 x-linked hereditary ataxia 10.2
13 learning disability 10.2
14 mechanical strabismus 10.2
15 pathologic nystagmus 10.2
16 spastic paraparesis 10.2
17 tremor 10.2
18 mental retardation, x-linked, with cerebellar hypoplasia and distinctive facial appearance 10.2 FXN ABCB7
19 lipoic acid biosynthesis defects 10.2 NFU1 GLRX5
20 coproporphyria, hereditary 10.2 FECH ALAS2
21 spastic paraplegia 38, autosomal dominant 10.2 FECH ACO1
22 dyschromatosis universalis hereditaria 10.2 FECH ABCB7
23 pearson marrow-pancreas syndrome 10.2 SLC25A38 GLRX5 ALAS2
24 x-linked recessive disease 10.2 U2AF1 ALAS2 ABCB7
25 neurodegeneration with brain iron accumulation 3 10.1 FXN ACO1
26 macrocytic anemia 10.1 U2AF1 FECH ALAS2
27 porphyria, acute intermittent 10.1 FECH ALAS2
28 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 10.1 U2AF1 FXN
29 myopathy, lactic acidosis, and sideroblastic anemia 1 10.0 SLC25A38 HSCB GLRX5 ABCB7
30 multiple mitochondrial dysfunctions syndrome 1 10.0 NFU1 ISCU HSCB
31 cutaneous porphyria 10.0 SLC25A37 FECH ALAS2
32 hypochromic microcytic anemia 10.0 SLC25A38 GLRX5 ALAS2 ACO1
33 folate malabsorption, hereditary 10.0 SLC25A38 SLC25A37
34 acute porphyria 10.0 SLC25A37 FECH ALAS2
35 proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome 10.0 SLC25A38 SLC25A37 FECH
36 hyperferritinemia with or without cataract 9.9 SLC25A37 ALAS2 ACO1
37 friedreich ataxia 9.9 FXN FECH ACO1 ABCB7
38 alcohol dependence 9.9
39 alveolar soft part sarcoma 9.9
40 diabetes mellitus, ketosis-prone 9.9
41 plague 9.9
42 acute myocardial infarction 9.9
43 autosomal recessive cerebellar ataxia 9.9 U2AF1 NFS1 ISCU FXN
44 aceruloplasminemia 9.9 SLC25A37 FXN ACO1
45 cerebellar disease 9.8 U2AF1 NFS1 ISCU FXN ABCB7
46 mitochondrial myopathy 9.6 NFS1 ISCU HSCB
47 hemochromatosis, type 1 9.6 SLC25A37 FXN FECH ALAS2 ACO1 ABCB7
48 multiple mitochondrial dysfunctions syndrome 4 9.6 NFU1 ISCA2 ISCA1
49 multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia 9.6 NFU1 ISCA2 ISCA1
50 multiple mitochondrial dysfunctions syndrome 3 9.6 NFU1 ISCA2 ISCA1

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 22)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 neurological speech impairment 58 31 hallmark (90%) Very frequent (99-80%) HP:0002167
2 nystagmus 58 31 hallmark (90%) Very frequent (99-80%) HP:0000639
3 ataxia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001251
4 anemia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001903
5 hyperreflexia 58 31 frequent (33%) Frequent (79-30%) HP:0001347
6 global developmental delay 58 31 frequent (33%) Frequent (79-30%) HP:0001263
7 scoliosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002650
8 strabismus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000486
9 intrauterine growth retardation 58 31 occasional (7.5%) Occasional (29-5%) HP:0001511
10 hypotonia 31 occasional (7.5%) HP:0001252
11 clonus 31 HP:0002169
12 dysarthria 31 HP:0001260
13 muscular hypotonia 58 Occasional (29-5%)
14 abnormality of movement 58 Frequent (79-30%)
15 dysmetria 31 HP:0001310
16 dysdiadochokinesis 31 HP:0002075
17 abnormality of metabolism/homeostasis 31 HP:0001939
18 babinski sign 31 HP:0003487
19 intention tremor 31 HP:0002080
20 hypochromic microcytic anemia 31 HP:0004840
21 nonprogressive cerebellar ataxia 31 HP:0002470
22 sideroblastic anemia 31 HP:0001924

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
hyperreflexia
clonus
dysarthria
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 (Updated 05-Apr-2021)

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 21)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-10 9.83 ACO1
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-100 9.83 ISCU
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-135 9.83 ISCU
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-14 9.83 ACO1
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-142 9.83 ISCU
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-159 9.83 ISCU
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-173 9.83 FXN HSCB
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-33 9.83 HSCB
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-54 9.83 ACO1
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-66 9.83 ACO1
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-86 9.83 HSCB
12 Decreased shRNA abundance (Z-score < -2) GR00366-A-95 9.83 FXN HSCB ISCU
13 Decreased viability GR00106-A-0 9.64 U2AF1
14 Decreased viability GR00221-A-1 9.64 FXN
15 Decreased viability GR00240-S-1 9.64 ABCB7 NFS1
16 Decreased viability GR00249-S 9.64 ABCB7 ALAS2 SLC25A37
17 Decreased viability GR00301-A 9.64 FXN
18 Decreased viability GR00381-A-1 9.64 ISCA2 SLC25A37
19 Decreased viability GR00386-A-1 9.64 ACO1 FECH ISCA2 NFS1 NUBP1
20 Decreased viability GR00402-S-2 9.64 ABCB7 ISCU NFS1 NUBP1 SLC25A37 U2AF1
21 Decreased shRNA abundance GR00297-A 9.63 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 all 20)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Citalopram Approved 59729-33-8 2771
2
Methylphenidate Approved, Investigational 113-45-1 4158
3
carbamide peroxide Approved 124-43-6
4
Testosterone Approved, Investigational 58-22-0 6013
5
Aspartic acid Approved, Nutraceutical 56-84-8 5960
6
Dexetimide Withdrawn 21888-98-2
7 Anesthetics
8 Hormones
9 insulin
10 Insulin, Globin Zinc
11 Natriuretic Peptide, Brain
12 Antidepressive Agents
13 N-Methylaspartate
14 Calcium, Dietary
15 Liver Extracts
16 Androgens
17 Androgen Antagonists
18
Bilirubin 635-65-4 5280352
19
L-Alanine Nutraceutical 56-41-7 5950
20
Calcium Nutraceutical 7440-70-2 271

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Anticancer Treatment of Breast Cancer Related to Cardiotoxicity and Dysfunctional Endothelium Completed NCT02652975
2 Exploring the Effect of Methylphenidate and Antidepressants on Cardiac Repolarisation. Active, not recruiting NCT03642405
3 Clinical Effectiveness of Body Fat Distribution Imaging in Real-World Practice: The BODY-REAL Study Not yet recruiting NCT04763772
4 Study of Maintenance of the Efficiency and Adverse Effects of Pharmacological Treatments in Sex Offenders With Paraphilia Not yet recruiting NCT04316650

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, Eye, Whole Blood, Cerebellum, Bone, Brain, Liver

Publications for Anemia, Sideroblastic, and Spinocerebellar Ataxia

Articles related to Anemia, Sideroblastic, and Spinocerebellar Ataxia:

(show all 20)
# 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. 61 6 57
11050011 2000
2
Mutation of a putative mitochondrial iron transporter gene (ABC7) in X-linked sideroblastic anemia and ataxia (XLSA/A). 57 6
10196363 1999
3
Hereditary sideroblastic anaemia and ataxia: an X linked recessive disorder. 6 57
4045952 1985
4
X-linked sideroblastic anemia and ataxia: a new family with identification of a fourth ABCB7 gene mutation. 6
22398176 2012
5
X-linked cerebellar ataxia and sideroblastic anaemia associated with a missense mutation in the ABC7 gene predicting V411L. 6
11843825 2001
6
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. 57
1301172 1992
7
X-linked sideroblastic anemia and ataxia: linkage to phosphoglycerate kinase at Xq13. 57
1671320 1991
8
Hereditary Ataxia: A Focus on Heme Metabolism and Fe-S Cluster Biogenesis. 61
32466579 2020
9
Dimeric ferrochelatase bridges ABCB7 and ABCB10 homodimers in an architecturally defined molecular complex required for heme biosynthesis. 61
30765471 2019
10
Disruption of the ATP-binding cassette B7 (ABTM-1/ABCB7) induces oxidative stress and premature cell death in Caenorhabditis elegans. 61
21464130 2011
11
Iron redistribution as a therapeutic strategy for treating diseases of localized iron accumulation. 61
20393584 2010
12
Cell functions impaired by frataxin deficiency are restored by drug-mediated iron relocation. 61
18796625 2008
13
The role of the iron transporter ABCB7 in refractory anemia with ring sideroblasts. 61
18398482 2008
14
Abcb7, the gene responsible for X-linked sideroblastic anemia with ataxia, is essential for hematopoiesis. 61
17192398 2007
15
RNA silencing of the mitochondrial ABCB7 transporter in HeLa cells causes an iron-deficient phenotype with mitochondrial iron overload. 61
17192393 2007
16
The mitochondrial ATP-binding cassette transporter Abcb7 is essential in mice and participates in cytosolic iron-sulfur cluster biogenesis. 61
16467350 2006
17
Iron trafficking in the mitochondrion: novel pathways revealed by disease. 61
15528311 2005
18
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
12938016 2003
19
Spinocerebellar ataxias due to mitochondrial defects. 61
11850112 2002
20
Genetic disorders affecting proteins of iron metabolism: clinical implications. 61
10774476 2000

Variations for Anemia, Sideroblastic, and Spinocerebellar Ataxia

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

6 (show all 27)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ABCB7 NM_001271696.3(ABCB7):c.1200T>G (p.Ile400Met) SNV Pathogenic 11574 rs72554634 GRCh37: X:74291351-74291351
GRCh38: X:75071516-75071516
2 ABCB7 NM_001271696.3(ABCB7):c.1297G>A (p.Glu433Lys) SNV Pathogenic 11575 rs80356714 GRCh37: X:74290268-74290268
GRCh38: X:75070433-75070433
3 ABCB7 NM_001271696.3(ABCB7):c.1231G>C (p.Val411Leu) SNV Pathogenic 11576 rs80356713 GRCh37: X:74290334-74290334
GRCh38: X:75070499-75070499
4 ABCB7 NM_001271696.3(ABCB7):c.624A>T (p.Glu208Asp) SNV Pathogenic 126455 rs515726147 GRCh37: X:74295428-74295428
GRCh38: X:75075593-75075593
5 ABCB7 NM_001271696.3(ABCB7):c.1235T>C (p.Met412Thr) SNV Likely pathogenic 372878 rs1057518042 GRCh37: X:74290330-74290330
GRCh38: X:75070495-75070495
6 ALAS2 , PAGE2B NM_000032.4(ALAS2):c.-111G>A SNV Uncertain significance 368602 rs754383602 GRCh37: X:55057470-55057470
GRCh38: X:55031037-55031037
7 ABCB7 NM_001271696.3(ABCB7):c.168+13T>C SNV Uncertain significance 368659 rs1057515989 GRCh37: X:74375927-74375927
GRCh38: X:75156092-75156092
8 ABCB7 NM_001271696.3(ABCB7):c.*113A>G SNV Uncertain significance 914074 GRCh37: X:74273092-74273092
GRCh38: X:75053257-75053257
9 ABCB7 NM_001271696.3(ABCB7):c.2073T>C (p.His691=) SNV Uncertain significance 914075 GRCh37: X:74273391-74273391
GRCh38: X:75053556-75053556
10 ABCB7 NM_001271696.3(ABCB7):c.1802A>G (p.Gln601Arg) SNV Uncertain significance 914076 GRCh37: X:74284934-74284934
GRCh38: X:75065099-75065099
11 ABCB7 NM_001271696.3(ABCB7):c.1230A>G (p.Leu410=) SNV Uncertain significance 914587 GRCh37: X:74290335-74290335
GRCh38: X:75070500-75070500
12 ABCB7 NM_001271696.3(ABCB7):c.1200T>C (p.Ile400=) SNV Uncertain significance 914588 GRCh37: X:74291351-74291351
GRCh38: X:75071516-75071516
13 ABCB7 NM_001271696.3(ABCB7):c.944+3A>G SNV Uncertain significance 976048 GRCh37: X:74293700-74293700
GRCh38: X:75073865-75073865
14 ABCB7 NM_001271696.3(ABCB7):c.1936-3C>G SNV Uncertain significance 814010 rs1602330362 GRCh37: X:74280168-74280168
GRCh38: X:75060333-75060333
15 ABCB7 NM_001271696.3(ABCB7):c.1935+5G>C SNV Uncertain significance 368655 rs763223675 GRCh37: X:74282158-74282158
GRCh38: X:75062323-75062323
16 ABCB7 NM_001271696.3(ABCB7):c.246+1G>A SNV Likely benign 213973 rs61323727 GRCh37: X:74334588-74334588
GRCh38: X:75114753-75114753
17 ABCB7 NM_001271696.3(ABCB7):c.1320T>C (p.Asp440=) SNV Likely benign 368657 rs45598734 GRCh37: X:74290245-74290245
GRCh38: X:75070410-75070410
18 ABCB7 NM_001271696.3(ABCB7):c.945-7C>T SNV Likely benign 136244 rs5937938 GRCh37: X:74293618-74293618
GRCh38: X:75073783-75073783
19 ABCB7 NM_001271696.3(ABCB7):c.121T>C (p.Trp41Arg) SNV Likely benign 213987 rs143380072 GRCh37: X:74375987-74375987
GRCh38: X:75156152-75156152
20 ABCB7 NM_001271696.3(ABCB7):c.1032+12A>G SNV Benign 368658 rs148980611 GRCh37: X:74293512-74293512
GRCh38: X:75073677-75073677
21 ABCB7 NM_001271696.3(ABCB7):c.312C>T (p.Leu104=) SNV Benign 136242 rs140031135 GRCh37: X:74332742-74332742
GRCh38: X:75112907-75112907
22 ABCB7 NM_001271696.3(ABCB7):c.1492G>A (p.Gly498Arg) SNV Benign 368656 rs151288786 GRCh37: X:74289163-74289163
GRCh38: X:75069328-75069328
23 ABCB7 NM_001271696.3(ABCB7):c.1740A>G (p.Ala580=) SNV Benign 136246 rs1340990 GRCh37: X:74284996-74284996
GRCh38: X:75065161-75065161
24 ABCB7 NM_001271696.3(ABCB7):c.938G>A (p.Arg313Gln) SNV Benign 136243 rs147584361 GRCh37: X:74293709-74293709
GRCh38: X:75073874-75073874
25 ABCB7 NM_001271696.3(ABCB7):c.945-7C>T SNV Benign 136244 rs5937938 GRCh37: X:74293618-74293618
GRCh38: X:75073783-75073783
26 ABCB7 NM_001271696.3(ABCB7):c.211A>G (p.Lys71Glu) SNV Benign 913727 GRCh37: X:74334624-74334624
GRCh38: X:75114789-75114789
27 ABCB7 NM_001271696.3(ABCB7):c.1739C>T (p.Ala580Val) SNV Benign 136245 rs1340989 GRCh37: X:74284997-74284997
GRCh38: X:75065162-75065162

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

72
# 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

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 mitochondrial inner membrane GO:0005743 9.63 SLC25A38 SLC25A37 FECH ALAS2 ABCB8 ABCB7
2 mitochondrial matrix GO:0005759 9.56 NFS1 ISCU ISCA2 ISCA1 GLRX5 FXN
3 mitochondrion GO:0005739 9.5 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 9.63 NUBP1 ISCU FXN ALAS2 ACO1 ABCB7
2 heme biosynthetic process GO:0006783 9.62 SLC25A38 FXN FECH ALAS2
3 protein maturation by iron-sulfur cluster transfer GO:0097428 9.56 NFU1 ISCA2 ISCA1 HSCB
4 [2Fe-2S] cluster assembly GO:0044571 9.54 NFS1 HSCB GLRX5
5 iron ion homeostasis GO:0055072 9.48 SLC25A37 FXN
6 protein maturation by [4Fe-4S] cluster transfer GO:0106035 9.46 ISCA2 GLRX5
7 positive regulation of aconitate hydratase activity GO:1904234 9.43 ISCU FXN
8 small molecule metabolic process GO:0044281 9.43 NFS1 ISCU ISCA2 ISCA1 GLRX5 FXN
9 iron incorporation into metallo-sulfur cluster GO:0018283 9.4 NFS1 FXN
10 iron-sulfur cluster assembly GO:0016226 9.23 NUBP1 NFU1 NFS1 ISCU ISCA2 ISCA1

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 10.03 U2AF1 NUBP1 NFU1 NFS1 ISCU ISCA2
2 4 iron, 4 sulfur cluster binding GO:0051539 9.55 NUBP1 NFU1 ISCU ISCA2 ACO1
3 iron ion binding GO:0005506 9.54 NFU1 ISCU ISCA2
4 ferrous iron binding GO:0008198 9.5 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 9.28 NUBP1 NFU1 NFS1 ISCU ISCA2 ISCA1

Sources for Anemia, Sideroblastic, and Spinocerebellar Ataxia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....