MCID: ANM046
MIFTS: 42

Anemia, Sideroblastic, and Spinocerebellar Ataxia

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Metabolic diseases, Blood 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 73
Anemia Sideroblastic and Spinocerebellar Ataxia 12 53 29 6
X-Linked Sideroblastic Anemia with Ataxia 12 53 59 15
X-Linked Sideroblastic Anemia and Ataxia 12 24 53 25
Asat 57 12 53 75
Sideroblastic Anemia with Spinocerebellar Ataxia 12 53 15
X-Linked Sideroblastic Anemia and Spinocerebellar Ataxia 53 59
Anemia, Sideroblastic, with Ataxia 57 13
Pagon Bird Detter Syndrome 53 75
Pagon-Bird-Detter Syndrome 53 59
Xlsa-a 53 59
Anemia Sideroblastic, and Spinocerebellar Ataxia 40
Anemia, Sideroblastic, Spinocerebellar Ataxia 75
Sideroblastic Anemia and Ataxia 6
Xlsa/a 25

Characteristics:

Orphanet epidemiological data:

59
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
Miscellaneous:
onset in early childhood

Inheritance:
x-linked recessive


HPO:

32
anemia, sideroblastic, and spinocerebellar ataxia:
Onset and clinical course juvenile onset
Inheritance x-linked recessive inheritance


Classifications:



Summaries for Anemia, Sideroblastic, and Spinocerebellar Ataxia

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 2802Disease definitionX-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.EpidemiologyThe prevalence is unknown. Only 10 genetically confirmed patients have been reported to date.Clinical descriptionXLSA-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.EtiologyXLSA-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 methodsDiagnosis 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 diagnosisThe 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 diagnosisPrenatal testing is possible in families with a known ABCB7 mutation.Genetic counselingXLSA-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 treatmentThere 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.PrognosisWhile 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 anemia sideroblastic and spinocerebellar ataxia, is related to anemia, sideroblastic, 1 and sideroblastic anemia, and has symptoms including clonus, action tremor and dysdiadochokinesis. 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 Carbon metabolism and Sulfur amino acid metabolism. Affiliated tissues include bone marrow, bone and testes, and related phenotypes are nystagmus and ataxia

UniProtKB/Swiss-Prot : 75 Anemia, sideroblastic, spinocerebellar ataxia: A X-linked recessive disorder characterized by an infantile to early childhood onset of non-progressive cerebellar ataxia and mild anemia, with hypochromia and microcytosis.

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.

Description from OMIM: 301310
GeneReviews:

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:

# Related Disease Score Top Affiliating Genes
1 anemia, sideroblastic, 1 30.4 ABCB7 ACO1
2 sideroblastic anemia 10.2
3 atransferrinemia 10.0 ABCB7 FXN
4 sleeping sickness 10.0 ABCB7 MDH2
5 myocardial infarction 10.0
6 aceruloplasminemia 9.8 ABCB7 FXN
7 friedreich ataxia 1 9.5 ABCB7 ACO1 FXN
8 hemochromatosis, type 1 9.4 ACO1 FXN

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

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
dysarthria
hyperreflexia
clonus
dysmetria
intention tremor
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

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

59 32 (show all 21)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nystagmus 59 32 hallmark (90%) Very frequent (99-80%) HP:0000639
2 ataxia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001251
3 anemia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001903
4 neurological speech impairment 59 32 hallmark (90%) Very frequent (99-80%) HP:0002167
5 global developmental delay 59 32 frequent (33%) Frequent (79-30%) HP:0001263
6 hyperreflexia 59 32 frequent (33%) Frequent (79-30%) HP:0001347
7 strabismus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000486
8 muscular hypotonia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001252
9 intrauterine growth retardation 59 32 occasional (7.5%) Occasional (29-5%) HP:0001511
10 scoliosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002650
11 abnormality of movement 59 Frequent (79-30%)
12 dysarthria 32 HP:0001260
13 dysmetria 32 HP:0001310
14 sideroblastic anemia 32 HP:0001924
15 abnormality of metabolism/homeostasis 32 HP:0001939
16 dysdiadochokinesis 32 HP:0002075
17 intention tremor 32 HP:0002080
18 clonus 32 HP:0002169
19 nonprogressive cerebellar ataxia 32 HP:0002470
20 babinski sign 32 HP:0003487
21 hypochromic microcytic anemia 32 HP:0004840

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


clonus, action tremor, dysdiadochokinesis

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

26 (show all 12)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-142 9.53 ABCB7
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-15 9.53 ABCB7
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-153 9.53 MDH1 SKI
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-171 9.53 MDH1
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-180 9.53 MDH1
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-191 9.53 ABCB7
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-20 9.53 MDH1
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-203 9.53 ABCB7
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-206 9.53 ABCB7
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-212 9.53 MDH1
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-34 9.53 ABCB7 MDH1
12 Decreased shRNA abundance (Z-score < -2) GR00366-A-77 9.53 ABCB7 MDH1 SKI

MGI Mouse Phenotypes related to Anemia, Sideroblastic, and Spinocerebellar Ataxia:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.43 ABCB7 ACO1 CTC1 FXN MDH1 SKI
2 mortality/aging MP:0010768 9.1 ABCB7 ACO1 CTC1 FXN MDH1 SKI

Drugs & Therapeutics for Anemia, Sideroblastic, and Spinocerebellar Ataxia

Search Clinical Trials , 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 Anemia Sideroblastic and Spinocerebellar Ataxia 29 ABCB7

Anatomical Context for Anemia, Sideroblastic, and Spinocerebellar Ataxia

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

41
Bone Marrow, Bone, Testes, Whole Blood, Cerebellum

Publications for Anemia, Sideroblastic, and Spinocerebellar Ataxia

Articles related to Anemia, Sideroblastic, and Spinocerebellar Ataxia:

# Title Authors Year
1
Abcb7, the gene responsible for X-linked sideroblastic anemia with ataxia, is essential for hematopoiesis. ( 17192398 )
2007
2
Human ABC7 transporter: gene structure and mutation causing X-linked sideroblastic anemia with ataxia with disruption of cytosolic iron- sulfur protein maturation. ( 11050011 )
2000

Variations for Anemia, Sideroblastic, and Spinocerebellar Ataxia

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

75
# 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

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

6
(show top 50) (show all 62)
# Gene Variation Type Significance SNP ID Assembly Location
1 ABCB7 NM_004299.5(ABCB7): c.1203T> G (p.Ile401Met) single nucleotide variant Pathogenic rs72554634 GRCh37 Chromosome X, 74291351: 74291351
2 ABCB7 NM_004299.5(ABCB7): c.1203T> G (p.Ile401Met) single nucleotide variant Pathogenic rs72554634 GRCh38 Chromosome X, 75071516: 75071516
3 ABCB7 NM_004299.5(ABCB7): c.1300G> A (p.Glu434Lys) single nucleotide variant Pathogenic rs80356714 GRCh37 Chromosome X, 74290268: 74290268
4 ABCB7 NM_004299.5(ABCB7): c.1300G> A (p.Glu434Lys) single nucleotide variant Pathogenic rs80356714 GRCh38 Chromosome X, 75070433: 75070433
5 ABCB7 NM_004299.5(ABCB7): c.1234G> C (p.Val412Leu) single nucleotide variant Pathogenic rs80356713 GRCh37 Chromosome X, 74290334: 74290334
6 ABCB7 NM_004299.5(ABCB7): c.1234G> C (p.Val412Leu) single nucleotide variant Pathogenic rs80356713 GRCh38 Chromosome X, 75070499: 75070499
7 ABCB7 NM_004299.5(ABCB7): c.627A> T (p.Glu209Asp) single nucleotide variant Pathogenic rs515726147 GRCh38 Chromosome X, 75075593: 75075593
8 ABCB7 NM_004299.5(ABCB7): c.627A> T (p.Glu209Asp) single nucleotide variant Pathogenic rs515726147 GRCh37 Chromosome X, 74295428: 74295428
9 ALAS2 NM_000032.4(ALAS2): c.1718C> T (p.Ser573Phe) single nucleotide variant Likely benign rs201799139 GRCh37 Chromosome X, 55035659: 55035659
10 ALAS2 NM_000032.4(ALAS2): c.1718C> T (p.Ser573Phe) single nucleotide variant Likely benign rs201799139 GRCh38 Chromosome X, 55009226: 55009226
11 ALAS2 NM_000032.4(ALAS2): c.1676G> A (p.Arg559His) single nucleotide variant Likely benign rs145704441 GRCh37 Chromosome X, 55035701: 55035701
12 ALAS2 NM_000032.4(ALAS2): c.1676G> A (p.Arg559His) single nucleotide variant Likely benign rs145704441 GRCh38 Chromosome X, 55009268: 55009268
13 ALAS2 NM_000032.4(ALAS2): c.1560C> A (p.Pro520=) single nucleotide variant Benign/Likely benign rs150055592 GRCh37 Chromosome X, 55039959: 55039959
14 ALAS2 NM_000032.4(ALAS2): c.1560C> A (p.Pro520=) single nucleotide variant Benign/Likely benign rs150055592 GRCh38 Chromosome X, 55013526: 55013526
15 ALAS2 NM_000032.4(ALAS2): c.1559C> T (p.Pro520Leu) single nucleotide variant Likely benign rs201062903 GRCh37 Chromosome X, 55039960: 55039960
16 ALAS2 NM_000032.4(ALAS2): c.1559C> T (p.Pro520Leu) single nucleotide variant Likely benign rs201062903 GRCh38 Chromosome X, 55013527: 55013527
17 ALAS2 NM_000032.4(ALAS2): c.1436G> A (p.Arg479Gln) single nucleotide variant Likely benign rs141305388 GRCh37 Chromosome X, 55041181: 55041181
18 ALAS2 NM_000032.4(ALAS2): c.1436G> A (p.Arg479Gln) single nucleotide variant Likely benign rs141305388 GRCh38 Chromosome X, 55014748: 55014748
19 ALAS2 NM_000032.4(ALAS2): c.1318G> C (p.Gly440Arg) single nucleotide variant Uncertain significance rs758646032 GRCh37 Chromosome X, 55041299: 55041299
20 ALAS2 NM_000032.4(ALAS2): c.1318G> C (p.Gly440Arg) single nucleotide variant Uncertain significance rs758646032 GRCh38 Chromosome X, 55014866: 55014866
21 ABCB7 NM_004299.5(ABCB7): c.249+1G> A single nucleotide variant Benign/Likely benign rs61323727 GRCh37 Chromosome X, 74334588: 74334588
22 ABCB7 NM_004299.5(ABCB7): c.249+1G> A single nucleotide variant Benign/Likely benign rs61323727 GRCh38 Chromosome X, 75114753: 75114753
23 ABCB7 NM_004299.5(ABCB7): c.121T> C (p.Trp41Arg) single nucleotide variant Likely benign rs143380072 GRCh38 Chromosome X, 75156152: 75156152
24 ABCB7 NM_004299.5(ABCB7): c.121T> C (p.Trp41Arg) single nucleotide variant Likely benign rs143380072 GRCh37 Chromosome X, 74375987: 74375987
25 ALAS2 NM_000032.4(ALAS2): c.1626G> A (p.Ala542=) single nucleotide variant Benign rs6612251 GRCh38 Chromosome X, 55009318: 55009318
26 ALAS2 NM_000032.4(ALAS2): c.1626G> A (p.Ala542=) single nucleotide variant Benign rs6612251 GRCh37 Chromosome X, 55035751: 55035751
27 ALAS2 NM_000032.4(ALAS2): c.661G> A (p.Ala221Thr) single nucleotide variant Likely benign rs753156183 GRCh38 Chromosome X, 55020482: 55020482
28 ALAS2 NM_000032.4(ALAS2): c.661G> A (p.Ala221Thr) single nucleotide variant Likely benign rs753156183 GRCh37 Chromosome X, 55046915: 55046915
29 ALAS2 NM_000032.4(ALAS2): c.1062C> G (p.Thr354=) single nucleotide variant Uncertain significance rs201740830 GRCh38 Chromosome X, 55015684: 55015684
30 ALAS2 NM_000032.4(ALAS2): c.1321G> A (p.Glu441Lys) single nucleotide variant Likely benign rs760790600 GRCh38 Chromosome X, 55014863: 55014863
31 ALAS2 NM_000032.4(ALAS2): c.1321G> A (p.Glu441Lys) single nucleotide variant Likely benign rs760790600 GRCh37 Chromosome X, 55041296: 55041296
32 ALAS2 NM_000032.4(ALAS2): c.1107C> T (p.Gly369=) single nucleotide variant Likely benign rs368764287 GRCh38 Chromosome X, 55015639: 55015639
33 ALAS2 NM_000032.4(ALAS2): c.1107C> T (p.Gly369=) single nucleotide variant Likely benign rs368764287 GRCh37 Chromosome X, 55042072: 55042072
34 ALAS2 NM_000032.4(ALAS2): c.1062C> G (p.Thr354=) single nucleotide variant Uncertain significance rs201740830 GRCh37 Chromosome X, 55042117: 55042117
35 ALAS2 NM_000032.4(ALAS2): c.741C> T (p.His247=) single nucleotide variant Conflicting interpretations of pathogenicity rs1057515971 GRCh38 Chromosome X, 55020402: 55020402
36 ALAS2 NM_000032.4(ALAS2): c.741C> T (p.His247=) single nucleotide variant Conflicting interpretations of pathogenicity rs1057515971 GRCh37 Chromosome X, 55046835: 55046835
37 ALAS2 NM_000032.4(ALAS2): c.416-11T> C single nucleotide variant Uncertain significance rs977637650 GRCh38 Chromosome X, 55021285: 55021285
38 ALAS2 NM_000032.4(ALAS2): c.416-11T> C single nucleotide variant Uncertain significance rs977637650 GRCh37 Chromosome X, 55047718: 55047718
39 ALAS2 NM_000032.4(ALAS2): c.-34C> T single nucleotide variant Likely benign rs780642606 GRCh38 Chromosome X, 55030960: 55030960
40 ALAS2 NM_000032.4(ALAS2): c.-34C> T single nucleotide variant Likely benign rs780642606 GRCh37 Chromosome X, 55057393: 55057393
41 ABCB7 NM_004299.5(ABCB7): c.1495G> A (p.Gly499Arg) single nucleotide variant Likely benign rs151288786 GRCh38 Chromosome X, 75069328: 75069328
42 ABCB7 NM_004299.5(ABCB7): c.1495G> A (p.Gly499Arg) single nucleotide variant Likely benign rs151288786 GRCh37 Chromosome X, 74289163: 74289163
43 ABCB7 NM_004299.5(ABCB7): c.1323T> C (p.Asp441=) single nucleotide variant Likely benign rs45598734 GRCh38 Chromosome X, 75070410: 75070410
44 ABCB7 NM_004299.5(ABCB7): c.1323T> C (p.Asp441=) single nucleotide variant Likely benign rs45598734 GRCh37 Chromosome X, 74290245: 74290245
45 ABCB7 NM_004299.5(ABCB7): c.1035+12A> G single nucleotide variant Benign rs148980611 GRCh37 Chromosome X, 74293512: 74293512
46 ABCB7 NM_004299.5(ABCB7): c.1035+12A> G single nucleotide variant Benign rs148980611 GRCh38 Chromosome X, 75073677: 75073677
47 ALAS2 NM_000032.4(ALAS2): c.1335C> T (p.Ala445=) single nucleotide variant Uncertain significance rs765603040 GRCh38 Chromosome X, 55014849: 55014849
48 ALAS2 NM_000032.4(ALAS2): c.1335C> T (p.Ala445=) single nucleotide variant Uncertain significance rs765603040 GRCh37 Chromosome X, 55041282: 55041282
49 ALAS2 NM_000032.4(ALAS2): c.*56A> C single nucleotide variant Benign rs6612250 GRCh37 Chromosome X, 55035557: 55035557
50 ALAS2 NM_000032.4(ALAS2): c.*56A> C single nucleotide variant Benign rs6612250 GRCh38 Chromosome X, 55009124: 55009124

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 mitochondrion GO:0005739 9.02 ABCB7 ACO1 FXN MDH1 MDH2

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

# Name GO ID Score Top Affiliating Genes
1 gluconeogenesis GO:0006094 9.43 MDH1 MDH2
2 aerobic respiration GO:0009060 9.4 FXN MDH2
3 carboxylic acid metabolic process GO:0019752 9.37 MDH1 MDH2
4 oxaloacetate metabolic process GO:0006107 9.32 MDH1 MDH2
5 NADH metabolic process GO:0006734 9.26 MDH1 MDH2
6 malate metabolic process GO:0006108 9.16 MDH1 MDH2
7 cellular iron ion homeostasis GO:0006879 9.13 ABCB7 ACO1 FXN
8 tricarboxylic acid cycle GO:0006099 8.8 ACO1 MDH1 MDH2

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

# Name GO ID Score Top Affiliating Genes
1 oxidoreductase activity GO:0016491 9.43 FXN MDH1 MDH2
2 oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor GO:0016616 9.16 MDH1 MDH2
3 malate dehydrogenase activity GO:0016615 8.96 MDH1 MDH2
4 L-malate dehydrogenase activity GO:0030060 8.62 MDH1 MDH2

Sources for Anemia, Sideroblastic, and Spinocerebellar Ataxia

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