ASAT
MCID: ANM046
MIFTS: 46

Anemia, Sideroblastic, and Spinocerebellar Ataxia (ASAT)

Categories: Blood diseases, Genetic 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 58 74
Anemia Sideroblastic and Spinocerebellar Ataxia 12 54 30 6
X-Linked Sideroblastic Anemia with Ataxia 12 54 60 15
X-Linked Sideroblastic Anemia and Ataxia 12 25 54 26
Asat 58 54 76
X-Linked Sideroblastic Anemia and Spinocerebellar Ataxia 54 60
Anemia, Sideroblastic, with Ataxia 58 13
Pagon Bird Detter Syndrome 54 76
Pagon-Bird-Detter Syndrome 54 60
Xlsa-a 54 60
Sideroblastic Anemia with Spinocerebellar Ataxia 54
Anemia Sideroblastic, and Spinocerebellar Ataxia 41
Anemia, Sideroblastic, Spinocerebellar Ataxia 76
Sideroblastic Anemia and Ataxia 6
Xlsa/a 26

Characteristics:

Orphanet epidemiological data:

60
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:

58
Miscellaneous:
onset in early childhood

Inheritance:
x-linked recessive


HPO:

33
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 : 54 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, 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 Metabolism and Porphyrin and chlorophyll metabolism. Affiliated tissues include bone, bone marrow and testes, and related phenotypes are nystagmus 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 : 26 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.

UniProtKB/Swiss-Prot : 76 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.

Description from OMIM: 301310
GeneReviews:

Related Diseases for Anemia, Sideroblastic, and Spinocerebellar Ataxia

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:

60 33 (show all 21)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nystagmus 60 33 hallmark (90%) Very frequent (99-80%) HP:0000639
2 ataxia 60 33 hallmark (90%) Very frequent (99-80%) HP:0001251
3 neurological speech impairment 60 33 hallmark (90%) Very frequent (99-80%) HP:0002167
4 anemia 60 33 hallmark (90%) Very frequent (99-80%) HP:0001903
5 hyperreflexia 60 33 frequent (33%) Frequent (79-30%) HP:0001347
6 global developmental delay 60 33 frequent (33%) Frequent (79-30%) HP:0001263
7 muscular hypotonia 60 33 occasional (7.5%) Occasional (29-5%) HP:0001252
8 scoliosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0002650
9 strabismus 60 33 occasional (7.5%) Occasional (29-5%) HP:0000486
10 intrauterine growth retardation 60 33 occasional (7.5%) Occasional (29-5%) HP:0001511
11 dysarthria 33 HP:0001260
12 clonus 33 HP:0002169
13 abnormality of metabolism/homeostasis 33 HP:0001939
14 abnormality of movement 60 Frequent (79-30%)
15 babinski sign 33 HP:0003487
16 dysmetria 33 HP:0001310
17 intention tremor 33 HP:0002080
18 dysdiadochokinesis 33 HP:0002075
19 hypochromic microcytic anemia 33 HP:0004840
20 nonprogressive cerebellar ataxia 33 HP:0002470
21 sideroblastic anemia 33 HP:0001924

Symptoms via clinical synopsis from OMIM:

58
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

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:

27 (show all 33)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-10 10.37 ACO1
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-112 10.37 ABCB5
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-139 10.37 FXN
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-14 10.37 ACO1
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-153 10.37 RARS
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-173 10.37 ACO1 FXN HSCB TTPA ABCB5 RARS
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-180 10.37 FXN HSCB TTPA
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-200 10.37 FXN
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-204 10.37 FXN
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-212 10.37 ABCB5
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-33 10.37 HSCB TTPA
12 Decreased shRNA abundance (Z-score < -2) GR00366-A-38 10.37 ABCB5
13 Decreased shRNA abundance (Z-score < -2) GR00366-A-55 10.37 RARS
14 Decreased shRNA abundance (Z-score < -2) GR00366-A-59 10.37 ABCB5
15 Decreased shRNA abundance (Z-score < -2) GR00366-A-60 10.37 ABCB5
16 Decreased shRNA abundance (Z-score < -2) GR00366-A-66 10.37 ACO1
17 Decreased shRNA abundance (Z-score < -2) GR00366-A-72 10.37 RARS
18 Decreased shRNA abundance (Z-score < -2) GR00366-A-86 10.37 HSCB TTPA
19 Decreased shRNA abundance (Z-score < -2) GR00366-A-95 10.37 ACO1 FXN HSCB TTPA
20 Increased shRNA abundance (Z-score > 2) GR00366-A-114 9.53 RARS
21 Increased shRNA abundance (Z-score > 2) GR00366-A-120 9.53 FECH
22 Increased shRNA abundance (Z-score > 2) GR00366-A-132 9.53 RARS
23 Increased shRNA abundance (Z-score > 2) GR00366-A-149 9.53 FECH
24 Increased shRNA abundance (Z-score > 2) GR00366-A-159 9.53 ABCB7 FECH RARS
25 Increased shRNA abundance (Z-score > 2) GR00366-A-161 9.53 FECH
26 Increased shRNA abundance (Z-score > 2) GR00366-A-162 9.53 FECH
27 Increased shRNA abundance (Z-score > 2) GR00366-A-166 9.53 ABCB7
28 Increased shRNA abundance (Z-score > 2) GR00366-A-176 9.53 FECH
29 Increased shRNA abundance (Z-score > 2) GR00366-A-196 9.53 RARS
30 Increased shRNA abundance (Z-score > 2) GR00366-A-201 9.53 ABCB7
31 Increased shRNA abundance (Z-score > 2) GR00366-A-214 9.53 RARS
32 Increased shRNA abundance (Z-score > 2) GR00366-A-4 9.53 ABCB7
33 Increased shRNA abundance (Z-score > 2) GR00366-A-65 9.53 FECH

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

47
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.85 ABCB10 ABCB5 ABCB7 ACO1 ALAS2 FECH
2 integument MP:0010771 9.43 ABCB10 ALAS2 FECH RARS SLC25A37 SOD2
3 mortality/aging MP:0010768 9.28 ABCB10 ABCB7 ACO1 ALAS2 CS FECH

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 30 ABCB7

Anatomical Context for Anemia, Sideroblastic, and Spinocerebellar Ataxia

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

42
Bone, Bone Marrow, Testes, Whole Blood, Cerebellum, Liver

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
X-linked cerebellar ataxia and sideroblastic anaemia associated with a missense mutation in the ABC7 gene predicting V411L. ( 11843825 )
2001
3
Human ABC7 transporter: gene structure and mutation causing X-linked sideroblastic anemia with ataxia with disruption of cytosolic iron-sulfur protein maturation. ( 11050011 )
2000
4
Mutation of a putative mitochondrial iron transporter gene (ABC7) in X-linked sideroblastic anemia and ataxia (XLSA/A). ( 10196363 )
1999
5
Hereditary sideroblastic anaemia and ataxia: an X linked recessive disorder. ( 4045952 )
1985

Variations for Anemia, Sideroblastic, and Spinocerebellar Ataxia

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

76
# 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 80)
# Gene Variation Type Significance SNP ID Assembly Location
1 ABCB7 NM_004299.6(ABCB7): c.1203T> G (p.Ile401Met) single nucleotide variant Pathogenic rs72554634 GRCh37 Chromosome X, 74291351: 74291351
2 ABCB7 NM_004299.6(ABCB7): c.1203T> G (p.Ile401Met) single nucleotide variant Pathogenic rs72554634 GRCh38 Chromosome X, 75071516: 75071516
3 ABCB7 NM_004299.6(ABCB7): c.1300G> A (p.Glu434Lys) single nucleotide variant Pathogenic rs80356714 GRCh37 Chromosome X, 74290268: 74290268
4 ABCB7 NM_004299.6(ABCB7): c.1300G> A (p.Glu434Lys) single nucleotide variant Pathogenic rs80356714 GRCh38 Chromosome X, 75070433: 75070433
5 ABCB7 NM_004299.6(ABCB7): c.1234G> C (p.Val412Leu) single nucleotide variant Pathogenic rs80356713 GRCh37 Chromosome X, 74290334: 74290334
6 ABCB7 NM_004299.6(ABCB7): c.1234G> C (p.Val412Leu) single nucleotide variant Pathogenic rs80356713 GRCh38 Chromosome X, 75070499: 75070499
7 ABCB7 NM_004299.6(ABCB7): c.627A> T (p.Glu209Asp) single nucleotide variant Pathogenic rs515726147 GRCh38 Chromosome X, 75075593: 75075593
8 ABCB7 NM_004299.6(ABCB7): c.627A> T (p.Glu209Asp) single nucleotide variant Pathogenic rs515726147 GRCh37 Chromosome X, 74295428: 74295428
9 ABCB7 NM_004299.6(ABCB7): c.315C> T (p.Leu105=) single nucleotide variant Benign rs140031135 GRCh37 Chromosome X, 74332742: 74332742
10 ABCB7 NM_004299.6(ABCB7): c.315C> T (p.Leu105=) single nucleotide variant Benign rs140031135 GRCh38 Chromosome X, 75112907: 75112907
11 ABCB7 NM_004299.6(ABCB7): c.941G> A (p.Arg314Gln) single nucleotide variant Benign/Likely benign rs147584361 GRCh37 Chromosome X, 74293709: 74293709
12 ABCB7 NM_004299.6(ABCB7): c.941G> A (p.Arg314Gln) single nucleotide variant Benign/Likely benign rs147584361 GRCh38 Chromosome X, 75073874: 75073874
13 ABCB7 NM_004299.6(ABCB7): c.948-7C> T single nucleotide variant Benign/Likely benign rs5937938 GRCh37 Chromosome X, 74293618: 74293618
14 ABCB7 NM_004299.6(ABCB7): c.948-7C> T single nucleotide variant Benign/Likely benign rs5937938 GRCh38 Chromosome X, 75073783: 75073783
15 ABCB7 NM_004299.6(ABCB7): c.1742C> T (p.Ala581Val) single nucleotide variant Benign rs1340989 GRCh37 Chromosome X, 74284997: 74284997
16 ABCB7 NM_004299.6(ABCB7): c.1742C> T (p.Ala581Val) single nucleotide variant Benign rs1340989 GRCh38 Chromosome X, 75065162: 75065162
17 ABCB7 NM_004299.6(ABCB7): c.1743A> G (p.Ala581=) single nucleotide variant Benign rs1340990 GRCh37 Chromosome X, 74284996: 74284996
18 ABCB7 NM_004299.6(ABCB7): c.1743A> G (p.Ala581=) single nucleotide variant Benign rs1340990 GRCh38 Chromosome X, 75065161: 75065161
19 ALAS2 NM_000032.4(ALAS2): c.824-15C> T single nucleotide variant Benign/Likely benign rs727467 GRCh37 Chromosome X, 55044113: 55044113
20 ALAS2 NM_000032.4(ALAS2): c.824-15C> T single nucleotide variant Benign/Likely benign rs727467 GRCh38 Chromosome X, 55017680: 55017680
21 ALAS2 NM_000032.4(ALAS2): c.1092G> A (p.Leu364=) single nucleotide variant Benign/Likely benign rs150494562 GRCh37 Chromosome X, 55042087: 55042087
22 ALAS2 NM_000032.4(ALAS2): c.1092G> A (p.Leu364=) single nucleotide variant Benign/Likely benign rs150494562 GRCh38 Chromosome X, 55015654: 55015654
23 ALAS2 NM_000032.4(ALAS2): c.1167T> G (p.Leu389=) single nucleotide variant Benign/Likely benign rs140584437 GRCh37 Chromosome X, 55042012: 55042012
24 ALAS2 NM_000032.4(ALAS2): c.1167T> G (p.Leu389=) single nucleotide variant Benign/Likely benign rs140584437 GRCh38 Chromosome X, 55015579: 55015579
25 ALAS2 NM_000032.4(ALAS2): c.282A> G (p.Glu94=) single nucleotide variant Benign rs150313977 GRCh37 Chromosome X, 55051173: 55051173
26 ALAS2 NM_000032.4(ALAS2): c.282A> G (p.Glu94=) single nucleotide variant Benign rs150313977 GRCh38 Chromosome X, 55024740: 55024740
27 ALAS2 NM_000032.4(ALAS2): c.1718C> T (p.Ser573Phe) single nucleotide variant Likely benign rs201799139 GRCh37 Chromosome X, 55035659: 55035659
28 ALAS2 NM_000032.4(ALAS2): c.1718C> T (p.Ser573Phe) single nucleotide variant Likely benign rs201799139 GRCh38 Chromosome X, 55009226: 55009226
29 ALAS2 NM_000032.4(ALAS2): c.1676G> A (p.Arg559His) single nucleotide variant Likely benign rs145704441 GRCh37 Chromosome X, 55035701: 55035701
30 ALAS2 NM_000032.4(ALAS2): c.1676G> A (p.Arg559His) single nucleotide variant Likely benign rs145704441 GRCh38 Chromosome X, 55009268: 55009268
31 ALAS2 NM_000032.4(ALAS2): c.1560C> A (p.Pro520=) single nucleotide variant Benign/Likely benign rs150055592 GRCh37 Chromosome X, 55039959: 55039959
32 ALAS2 NM_000032.4(ALAS2): c.1560C> A (p.Pro520=) single nucleotide variant Benign/Likely benign rs150055592 GRCh38 Chromosome X, 55013526: 55013526
33 ALAS2 NM_000032.4(ALAS2): c.1559C> T (p.Pro520Leu) single nucleotide variant Likely benign rs201062903 GRCh37 Chromosome X, 55039960: 55039960
34 ALAS2 NM_000032.4(ALAS2): c.1559C> T (p.Pro520Leu) single nucleotide variant Likely benign rs201062903 GRCh38 Chromosome X, 55013527: 55013527
35 ALAS2 NM_000032.4(ALAS2): c.1436G> A (p.Arg479Gln) single nucleotide variant Likely benign rs141305388 GRCh37 Chromosome X, 55041181: 55041181
36 ALAS2 NM_000032.4(ALAS2): c.1436G> A (p.Arg479Gln) single nucleotide variant Likely benign rs141305388 GRCh38 Chromosome X, 55014748: 55014748
37 ALAS2 NM_000032.4(ALAS2): c.1318G> C (p.Gly440Arg) single nucleotide variant Uncertain significance rs758646032 GRCh37 Chromosome X, 55041299: 55041299
38 ALAS2 NM_000032.4(ALAS2): c.1318G> C (p.Gly440Arg) single nucleotide variant Uncertain significance rs758646032 GRCh38 Chromosome X, 55014866: 55014866
39 ABCB7 NM_004299.6(ABCB7): c.249+1G> A single nucleotide variant Conflicting interpretations of pathogenicity rs61323727 GRCh37 Chromosome X, 74334588: 74334588
40 ABCB7 NM_004299.6(ABCB7): c.249+1G> A single nucleotide variant Conflicting interpretations of pathogenicity rs61323727 GRCh38 Chromosome X, 75114753: 75114753
41 ABCB7 NM_004299.6(ABCB7): c.121T> C (p.Trp41Arg) single nucleotide variant Likely benign rs143380072 GRCh38 Chromosome X, 75156152: 75156152
42 ABCB7 NM_004299.6(ABCB7): c.121T> C (p.Trp41Arg) single nucleotide variant Likely benign rs143380072 GRCh37 Chromosome X, 74375987: 74375987
43 ALAS2 NM_000032.4(ALAS2): c.1626G> A (p.Ala542=) single nucleotide variant Benign rs6612251 GRCh38 Chromosome X, 55009318: 55009318
44 ALAS2 NM_000032.4(ALAS2): c.1626G> A (p.Ala542=) single nucleotide variant Benign rs6612251 GRCh37 Chromosome X, 55035751: 55035751
45 ALAS2 NM_000032.4(ALAS2): c.661G> A (p.Ala221Thr) single nucleotide variant Likely benign rs753156183 GRCh38 Chromosome X, 55020482: 55020482
46 ALAS2 NM_000032.4(ALAS2): c.661G> A (p.Ala221Thr) single nucleotide variant Likely benign rs753156183 GRCh37 Chromosome X, 55046915: 55046915
47 ALAS2 NM_000032.4(ALAS2): c.1321G> A (p.Glu441Lys) single nucleotide variant Likely benign rs760790600 GRCh38 Chromosome X, 55014863: 55014863
48 ALAS2 NM_000032.4(ALAS2): c.1321G> A (p.Glu441Lys) single nucleotide variant Likely benign rs760790600 GRCh37 Chromosome X, 55041296: 55041296
49 ALAS2 NM_000032.4(ALAS2): c.1107C> T (p.Gly369=) single nucleotide variant Likely benign rs368764287 GRCh38 Chromosome X, 55015639: 55015639
50 ALAS2 NM_000032.4(ALAS2): c.1107C> T (p.Gly369=) single nucleotide variant Likely benign rs368764287 GRCh37 Chromosome X, 55042072: 55042072

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 9.55 ABCB10 ABCB7 ALAS2 FECH SLC25A37
2 mitochondrial matrix GO:0005759 9.35 ALAS2 CS FECH FXN SOD2
3 mitochondrion GO:0005739 9.32 ABCB10 ABCB7 ACO1 ALAS2 CS FECH

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

# Name GO ID Score Top Affiliating Genes
1 iron ion homeostasis GO:0055072 9.4 FXN SLC25A37
2 tricarboxylic acid cycle GO:0006099 9.37 ACO1 CS
3 iron-sulfur cluster assembly GO:0016226 9.32 FXN HSCB
4 citrate metabolic process GO:0006101 9.26 ACO1 CS
5 oxygen homeostasis GO:0032364 9.16 ALAS2 SOD2
6 heme biosynthetic process GO:0006783 9.13 ALAS2 FECH FXN
7 cellular iron ion homeostasis GO:0006879 8.92 ABCB7 ACO1 ALAS2 FXN

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

# Name GO ID Score Top Affiliating Genes
1 ATPase activity GO:0016887 9.43 ABCB10 ABCB5 ABCB7
2 2 iron, 2 sulfur cluster binding GO:0051537 9.16 FECH FXN
3 ferrous iron binding GO:0008198 8.96 FECH FXN
4 ATPase activity, coupled to transmembrane movement of substances GO:0042626 8.8 ABCB10 ABCB5 ABCB7

Sources for Anemia, Sideroblastic, and Spinocerebellar Ataxia

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