SIDBA1
MCID: ANM036
MIFTS: 54

Anemia, Sideroblastic, 1 (SIDBA1)

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

Aliases & Classifications for Anemia, Sideroblastic, 1

MalaCards integrated aliases for Anemia, Sideroblastic, 1:

Name: Anemia, Sideroblastic, 1 58 76
Xlsa 58 12 54 26 60 76
X-Linked Sideroblastic Anemia 12 77 54 26 60
Hereditary Sideroblastic Anemia 76 30 6 74
Hereditary Iron-Loading Anemia 58 54 26 76
Hypochromic Anemia 12 76 15 74
Anh1 58 54 26 76
Anemia, Sideroblastic, X-Linked 58 76 13
Erythroid 5-Aminolevulinate Synthase Deficiency 54 26
X Chromosome-Linked Sideroblastic Anemia 54 26
Anemia, Hereditary Sideroblastic 58 26
Sideroblastic Anemia 1 12 15
Anemia, Hypochromic 58 45
Anemia Hypochromic 12 56
Sidba1 58 76
X-Linked Pyridoxine-Responsive Sideroblastic Anemia 26
Anemia, Sex-Linked Hypochromic Sideroblastic 26
Anemia Sex-Linked Hypochromic Sideroblastic 54
Anemia, Sideroblastic, X-Linked; Xlsa 58
Congenital Sideroblastic Anaemia 26
Anemia, Sideroblastic, Type 1 ) 41
Anemia Hereditary Sideroblastic 54
Congenital Sideroblastic Anemia 54
Anemia Congenital Sideroblastic 56
Sideroblastic Anemia X-Linked 54
Anemia, Hypochromic; Anh1 58

Characteristics:

Orphanet epidemiological data:

60
x-linked sideroblastic anemia
Inheritance: X-linked recessive; Age of onset: All ages;

OMIM:

58
Miscellaneous:
variable severity
variable age at onset, from birth to ninth decade
female carriers may be affected
may or may not be responsive to pyridoxine (vitamin b6) treatment
systemic iron overload due to ineffective erythropoiesis

Inheritance:
x-linked recessive


HPO:

33
anemia, sideroblastic, 1:
Onset and clinical course variable expressivity
Inheritance x-linked recessive inheritance


Classifications:



Summaries for Anemia, Sideroblastic, 1

NIH Rare Diseases : 54 X-linked sideroblastic anemia is an inherited disorder that prevents developing red blood cells (erythroblasts) from making enough hemoglobin. People with X-linked sideroblastic anemia 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. The signs and symptoms of X-linked sideroblastic anemia result from a combination of reduced hemoglobin and an overload of iron. They range from mild to severe and most often appear in young adulthood. Common features include fatigue, dizziness, a rapid heartbeat, pale skin, and an enlarged liver and spleen (hepatosplenomegaly). Over time, severe medical problems such as heart disease and liver damage (cirrhosis) can result from the buildup of excess iron in these organs. X-linked sideroblastic anemia is caused by mutation in the ALAS2 gene. In rare cases, mutations are found in both the HFE gene and the ALAS2 gene, resulting in a more severe form of X-linked sideroblastic anemia. X-linked sideroblastic anemia is inherited in an X-linked recessive pattern.

MalaCards based summary : Anemia, Sideroblastic, 1, also known as xlsa, is related to anemia, sideroblastic, and spinocerebellar ataxia and pyridoxine-responsive sideroblastic anemia. An important gene associated with Anemia, Sideroblastic, 1 is ALAS2 (5'-Aminolevulinate Synthase 2), and among its related pathways/superpathways are Metabolism and Porphyrin and chlorophyll metabolism. The drug Pharmaceutical Solutions has been mentioned in the context of this disorder. Affiliated tissues include bone, bone marrow and skin, and related phenotypes are muscle weakness and fatigue

Disease Ontology : 12 A sideoblastic anemia that is characterized by the presence of microcytic hypochromic anemia and iron overload, and has material basis in X-linked inheritance of mutation in the ALAS2 gene that enocdes aminolevulinic acid synthase that catalyzes the first step in heme production.

Genetics Home Reference : 26 X-linked sideroblastic anemia is an inherited disorder that prevents developing red blood cells (erythroblasts) from making enough hemoglobin, which is the protein that carries oxygen in the blood. People with X-linked sideroblastic anemia 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.

OMIM : 58 The essential features of X-linked sideroblastic anemia include the following: (1) a hypochromic microcytic anemia and 2 discrete populations of red blood cells, one microcytic and the other normocytic; (2) marrow ringed sideroblasts, particularly prominent in the late erythroid precursors; (3) a variable hematologic response to pharmacologic doses of pyridoxine; and (4) systemic iron overload secondary to chronic ineffective erythropoiesis. The age of clinical onset of the disorder can vary from in utero to the ninth decade. Whereas males are preferentially affected, females may present with clinically severe anemia. More commonly, female carriers of the disease have an increased red blood cell distribution width and sometimes erythrocyte dimorphism (Fleming, 2002). (300751)

UniProtKB/Swiss-Prot : 76 Anemia, sideroblastic, 1: A form of sideroblastic anemia that shows a variable hematologic response to pharmacologic doses of pyridoxine. Sideroblastic anemia is characterized by anemia of varying severity, hypochromic peripheral erythrocytes, systemic iron overload secondary to chronic ineffective erythropoiesis, and the presence of bone marrow ringed sideroblasts. Sideroblasts are characterized by iron-loaded mitochondria clustered around the nucleus.

Wikipedia : 77 Sideroblastic anemia or sideroachrestic anemia is a form of anemia in which the bone marrow produces... more...

Related Diseases for Anemia, Sideroblastic, 1

Diseases in the Sideroblastic Anemia family:

Anemia, Sideroblastic, 4 Anemia, Sideroblastic, 1
Autosomal Dominant Sideroblastic Anemia 4 Autosomal Recessive Sideroblastic Anemia

Diseases related to Anemia, Sideroblastic, 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 73)
# Related Disease Score Top Affiliating Genes
1 anemia, sideroblastic, and spinocerebellar ataxia 33.3 ABCB7 ACO1
2 pyridoxine-responsive sideroblastic anemia 32.1 ALAS2 HBB
3 beta-thalassemia 32.1 HBB TFR2 TFRC
4 atransferrinemia 30.8 ABCB7 ALAS2 HAMP HJV TFR2 TFRC
5 hemosiderosis 30.6 HAMP TFRC
6 sideroblastic anemia 30.3 ABCB7 ALAS1 ALAS2
7 microcytic anemia 30.1 ACO1 ALAS2 TFRC
8 iron metabolism disease 30.0 HJV TFR2 TFRC
9 hemoglobinopathy 29.8 HAMP HBB
10 deficiency anemia 29.4 ALAS2 HAMP HBB HJV TFR2 TFRC
11 iron deficiency anemia 29.2 HAMP HJV TFR2 TFRC
12 hemochromatosis, type 1 28.3 ABCB7 ACO1 ALAS2 HAMP HJV TFR2
13 myopathy, lactic acidosis, and sideroblastic anemia 1 12.6
14 anemia, hypochromic microcytic, with iron overload 2 12.6
15 anemia, hypochromic microcytic, with iron overload 1 12.5
16 hypochromic microcytic anemia 11.9
17 sideroblastic anemia with b-cell immunodeficiency, periodic fevers, and developmental delay 11.6
18 iron-refractory iron deficiency anemia 11.5
19 hypochromic microcytic anemia with iron overload 11.3
20 autosomal recessive pyridoxine-refractory sideroblastic anemia 2 11.2
21 benjamin syndrome 11.2
22 anemia, sideroblastic, 4 11.1
23 anemia, sideroblastic, 3, pyridoxine-refractory 11.1
24 anemia, sideroblastic, pyridoxine-responsive, autosomal recessive 10.5
25 thalassemia 10.4
26 x-linked protoporphyria 10.2 ALAS2 FECH
27 autosomal recessive sideroblastic anemia 10.2
28 autosomal dominant cerebellar ataxia 10.1
29 macrocytic anemia 10.1
30 refractory anemia 10.1
31 hematopoietic stem cell transplantation 10.1
32 alpha-thalassemia 10.1
33 melanoma 10.1
34 gaucher's disease 10.1
35 siderosis 10.1 HBB TFRC
36 x-linked recessive disease 10.1 ABCB7 ALAS2
37 hemoglobin h disease 10.0 HBB TFRC
38 juvenile hereditary hemochromatosis 10.0
39 anemia, sideroblastic, 2, pyridoxine-refractory 10.0
40 pearson marrow-pancreas syndrome 10.0
41 myelodysplastic syndrome 10.0
42 ehrlichiosis 10.0 ACO1 TFRC
43 renal cell carcinoma, nonpapillary 10.0
44 pernicious anemia 10.0
45 pulmonary hemosiderosis 10.0
46 celiac disease 1 10.0
47 polycythemia vera 10.0
48 leukemia 10.0
49 lymphoma 10.0
50 thrombosis 10.0

Graphical network of the top 20 diseases related to Anemia, Sideroblastic, 1:



Diseases related to Anemia, Sideroblastic, 1

Symptoms & Phenotypes for Anemia, Sideroblastic, 1

Human phenotypes related to Anemia, Sideroblastic, 1:

60 33 (show all 13)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 muscle weakness 60 33 hallmark (90%) Very frequent (99-80%) HP:0001324
2 fatigue 60 33 hallmark (90%) Very frequent (99-80%) HP:0012378
3 anemia 60 33 hallmark (90%) Very frequent (99-80%) HP:0001903
4 pallor 60 33 hallmark (90%) Very frequent (99-80%) HP:0000980
5 abnormality of iron homeostasis 60 33 hallmark (90%) Very frequent (99-80%) HP:0011031
6 splenomegaly 60 33 occasional (7.5%) Occasional (29-5%) HP:0001744
7 dyspnea 60 33 occasional (7.5%) Occasional (29-5%) HP:0002094
8 glucose intolerance 60 33 occasional (7.5%) Occasional (29-5%) HP:0001952
9 elevated hepatic transaminase 60 33 occasional (7.5%) Occasional (29-5%) HP:0002910
10 hyperpigmentation of the skin 60 33 occasional (7.5%) Occasional (29-5%) HP:0000953
11 macrocytic anemia 33 HP:0001972
12 hypochromic microcytic anemia 33 HP:0004840
13 sideroblastic anemia 33 HP:0001924

Symptoms via clinical synopsis from OMIM:

58
Hematology:
sideroblastic anemia
hypochromic, microcytic anemia
macrocytic anemia in manifesting females
pathologic perinuclear mitochondrial iron deposits in erythrocyte precursors

Laboratory Abnormalities:
low hemoglobin

Clinical features from OMIM:

300751

MGI Mouse Phenotypes related to Anemia, Sideroblastic, 1:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.56 ABCB7 ACO1 ALAS2 FECH HJV TFR2
2 liver/biliary system MP:0005370 9.1 ABCB7 FECH HJV TFR2 TFRC UROS

Drugs & Therapeutics for Anemia, Sideroblastic, 1

Drugs for Anemia, Sideroblastic, 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Pharmaceutical Solutions Not Applicable

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Dry Eye Evaluation After Transepithelial PRK Completed NCT02210793 Not Applicable

Search NIH Clinical Center for Anemia, Sideroblastic, 1

Inferred drug relations via UMLS 74 / NDF-RT 52 :


Cochrane evidence based reviews: anemia, hypochromic

Genetic Tests for Anemia, Sideroblastic, 1

Genetic tests related to Anemia, Sideroblastic, 1:

# Genetic test Affiliating Genes
1 Hereditary Sideroblastic Anemia 30 ALAS2

Anatomical Context for Anemia, Sideroblastic, 1

MalaCards organs/tissues related to Anemia, Sideroblastic, 1:

42
Bone, Bone Marrow, Skin, Liver, Heart, Spleen, Myeloid

Publications for Anemia, Sideroblastic, 1

Articles related to Anemia, Sideroblastic, 1:

(show all 46)
# Title Authors Year
1
A defined culture method enabling the establishment of ring sideroblasts from induced pluripotent cells of X-linked sideroblastic anemia. ( 29419427 )
2018
2
Mutation Analysis of X-linked Sideroblastic Anemia in a 12-Month-Old Boy by Massively Parallel Sequencing. ( 29611395 )
2018
3
Establishment of a cell model of X-linked sideroblastic anemia using genome editing. ( 29908199 )
2018
4
X-linked Sideroblastic Anemia in a Malay Boy With ALAS2 S568G Mutation. ( 28644307 )
2017
5
A Novel ALAS2 Mutation Resulting in Variable Phenotypes and Pyridoxine Response in a Family with X-linked Sideroblastic Anemia. ( 28667034 )
2017
6
A Japanese family with X-linked sideroblastic anemia affecting females and manifesting as macrocytic anemia. ( 26862056 )
2016
7
A recurring mutation in the respiratory complex 1 protein NDUFB11 is responsible for a novel form of X-linked sideroblastic anemia. ( 27488349 )
2016
8
X-linked sideroblastic anemia due to ALAS2 intron 1 enhancer element GATA-binding site mutations. ( 24166784 )
2014
9
A novel hemizygous I418S mutation in the ALAS2 gene in a young Korean man with X-linked sideroblastic anemia. ( 24624355 )
2014
10
X-linked sideroblastic anemia and ataxia: a new family with identification of a fourth ABCB7 gene mutation. ( 22398176 )
2012
11
X-linked sideroblastic anemia due to carboxyl-terminal ALAS2 mutations that cause loss of binding to the β-subunit of succinyl-CoA synthetase (SUCLA2). ( 22740690 )
2012
12
New mutation in erythroid-specific delta-aminolevulinate synthase as the cause of X-linked sideroblastic anemia responsive to pyridoxine. ( 21252495 )
2011
13
Abcb7, the gene responsible for X-linked sideroblastic anemia with ataxia, is essential for hematopoiesis. ( 17192398 )
2007
14
X-linked sideroblastic anemia associated with a novel ALAS2 mutation and unfortunate skewed X-chromosome inactivation patterns. ( 16735131 )
2006
15
Crystal structure of 5-aminolevulinate synthase, the first enzyme of heme biosynthesis, and its link to XLSA in humans. ( 16121195 )
2005
16
Iron overload due to X-linked sideroblastic anemia in an African American man. ( 15047047 )
2004
17
Onset of X-linked sideroblastic anemia in the fourth decade. ( 15477213 )
2004
18
[Construction of recombinant vector expressing ALAS2 gene in X-linked sideroblastic anemia]. ( 15498136 )
2004
19
Late-onset X-linked sideroblastic anemia following hemodialysis. ( 12531813 )
2003
20
A promoter mutation in the erythroid-specific 5-aminolevulinate synthase (ALAS2) gene causes X-linked sideroblastic anemia. ( 12663458 )
2003
21
A novel mutation in exon 5 of the ALAS2 gene results in X-linked sideroblastic anemia. ( 12031592 )
2002
22
Absent phenotypic expression of X-linked sideroblastic anemia in one of 2 brothers with a novel ALAS2 mutation. ( 12393718 )
2002
23
X chromosome inactivation ratios in female carriers of X-linked sideroblastic anemia. ( 11405213 )
2001
24
Animal models for X-linked sideroblastic anemia. ( 11039663 )
2000
25
Human ABC7 transporter: gene structure and mutation causing X-linked sideroblastic anemia with ataxia with disruption of cytosolic iron-sulfur protein maturation. ( 11050011 )
2000
26
Familial-skewed X-chromosome inactivation as a predisposing factor for late-onset X-linked sideroblastic anemia in carrier females. ( 11110715 )
2000
27
[A novel mutation of the ALAS2 gene in a family with X-linked sideroblastic anemia]. ( 11877024 )
2000
28
Four new mutations in the erythroid-specific 5-aminolevulinate synthase (ALAS2) gene causing X-linked sideroblastic anemia: increased pyridoxine responsiveness after removal of iron overload by phlebotomy and coinheritance of hereditary hemochromatosis. ( 10029606 )
1999
29
Mutation of a putative mitochondrial iron transporter gene (ABC7) in X-linked sideroblastic anemia and ataxia (XLSA/A). ( 10196363 )
1999
30
A novel mutation of the erythroid-specific delta-aminolaevulinate synthase gene in a patient with X-linked sideroblastic anaemia. ( 10444183 )
1999
31
[X-linked sideroblastic anemia]. ( 10483144 )
1999
32
Cloning and chromosomal mapping of a novel ABC transporter gene (hABC7), a candidate for X-linked sideroblastic anemia with spinocerebellar ataxia. ( 9621516 )
1998
33
R411C mutation of the ALAS2 gene encodes a pyridoxine-responsive enzyme with low activity. ( 9858242 )
1998
34
Hereditary sideroblastic anaemia due to a mutation in exon 10 of the erythroid 5-aminolaevulinate synthase gene. ( 9488633 )
1998
35
Pyridoxine refractory X-linked sideroblastic anemia caused by a point mutation in the erythroid 5-aminolevulinate synthase gene. ( 9226183 )
1997
36
Late-onset X-linked sideroblastic anemia. Missense mutations in the erythroid delta-aminolevulinate synthase (ALAS2) gene in two pyridoxine-responsive patients initially diagnosed with acquired refractory anemia and ringed sideroblasts. ( 7560104 )
1995
37
Molecular defects of erythroid 5-aminolevulinate synthase in X-linked sideroblastic anemia. ( 7592563 )
1995
38
A new mutation of the ALAS2 gene in a large family with X-linked sideroblastic anemia. ( 7705839 )
1995
39
Molecular genetics of "X-linked" sideroblastic anemia. ( 7847329 )
1995
40
X-linked pyridoxine-responsive sideroblastic anemia due to a Thr388-to-Ser substitution in erythroid 5-aminolevulinate synthase. ( 8107717 )
1994
41
X-linked sideroblastic anemia: identification of the mutation in the erythroid-specific delta-aminolevulinate synthase gene (ALAS2) in the original family described by Cooley. ( 7949148 )
1994
42
Erythroid 5-aminolevulinate synthase and X-linked sideroblastic anemia. ( 8089650 )
1993
43
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. ( 1301172 )
1992
44
Enzymatic defect in "X-linked" sideroblastic anemia: molecular evidence for erythroid delta-aminolevulinate synthase deficiency. ( 1570328 )
1992
45
X-linked sideroblastic anemia and ataxia: linkage to phosphoglycerate kinase at Xq13. ( 1671320 )
1991
46
5-Aminolevulinate synthase is at 3p21 and thus not the primary defect in X-linked sideroblastic anemia. ( 3414687 )
1988

Variations for Anemia, Sideroblastic, 1

UniProtKB/Swiss-Prot genetic disease variations for Anemia, Sideroblastic, 1:

76 (show all 25)
# Symbol AA change Variation ID SNP ID
1 ALAS2 p.Thr388Ser VAR_000562 rs137852300
2 ALAS2 p.Arg411Cys VAR_000563 rs137852305
3 ALAS2 p.Ile476Asn VAR_000564 rs137852299
4 ALAS2 p.Tyr199His VAR_012334 rs137852310
5 ALAS2 p.Arg204Gln VAR_012335 rs133839142
6 ALAS2 p.Arg448Gln VAR_012336
7 ALAS2 p.Arg452Cys VAR_012337 rs137852311
8 ALAS2 p.Asp159Tyr VAR_018604 rs137852308
9 ALAS2 p.Arg560His VAR_018605 rs892041887
10 ALAS2 p.Lys156Glu VAR_066232
11 ALAS2 p.Arg170His VAR_066233
12 ALAS2 p.Arg218His VAR_066234 rs185504937
13 ALAS2 p.Glu242Lys VAR_066235
14 ALAS2 p.Asp263Asn VAR_066236
15 ALAS2 p.Pro339Leu VAR_066237
16 ALAS2 p.Arg375Cys VAR_066238
17 ALAS2 p.Arg411His VAR_066239
18 ALAS2 p.Arg452Gly VAR_066240
19 ALAS2 p.Arg452His VAR_066241 rs863223904
20 ALAS2 p.Pro520Leu VAR_066242 rs201062903
21 ALAS2 p.Arg572His VAR_066243
22 ALAS2 p.Phe165Leu VAR_072328 rs137852301
23 ALAS2 p.Arg170Cys VAR_072329
24 ALAS2 p.Val301Ala VAR_072330
25 ALAS2 p.Arg517Gly VAR_072331

ClinVar genetic disease variations for Anemia, Sideroblastic, 1:

6 (show top 50) (show all 94)
# Gene Variation Type Significance SNP ID Assembly Location
1 ALAS2 NM_000032.4(ALAS2): c.1427T> A (p.Ile476Asn) single nucleotide variant Pathogenic rs137852299 GRCh37 Chromosome X, 55041190: 55041190
2 ALAS2 NM_000032.4(ALAS2): c.1427T> A (p.Ile476Asn) single nucleotide variant Pathogenic rs137852299 GRCh38 Chromosome X, 55014757: 55014757
3 ALAS2 NM_000032.4(ALAS2): c.1163C> G (p.Thr388Ser) single nucleotide variant Pathogenic rs137852300 GRCh37 Chromosome X, 55042016: 55042016
4 ALAS2 NM_000032.4(ALAS2): c.1163C> G (p.Thr388Ser) single nucleotide variant Pathogenic rs137852300 GRCh38 Chromosome X, 55015583: 55015583
5 ALAS2 NM_000032.4(ALAS2): c.495C> A (p.Phe165Leu) single nucleotide variant Pathogenic rs137852301 GRCh37 Chromosome X, 55047628: 55047628
6 ALAS2 NM_000032.4(ALAS2): c.495C> A (p.Phe165Leu) single nucleotide variant Pathogenic rs137852301 GRCh38 Chromosome X, 55021195: 55021195
7 ALAS2 NM_000032.4(ALAS2): c.871G> A (p.Gly291Ser) single nucleotide variant Pathogenic rs137852302 GRCh37 Chromosome X, 55044051: 55044051
8 ALAS2 NM_000032.4(ALAS2): c.871G> A (p.Gly291Ser) single nucleotide variant Pathogenic rs137852302 GRCh38 Chromosome X, 55017618: 55017618
9 ALAS2 NM_000032.4(ALAS2): c.895A> C (p.Lys299Gln) single nucleotide variant Pathogenic rs137852303 GRCh37 Chromosome X, 55044027: 55044027
10 ALAS2 NM_000032.4(ALAS2): c.895A> C (p.Lys299Gln) single nucleotide variant Pathogenic rs137852303 GRCh38 Chromosome X, 55017594: 55017594
11 ALAS2 NM_000032.4(ALAS2): c.514G> A (p.Ala172Thr) single nucleotide variant Pathogenic rs137852304 GRCh37 Chromosome X, 55047609: 55047609
12 ALAS2 NM_000032.4(ALAS2): c.514G> A (p.Ala172Thr) single nucleotide variant Pathogenic rs137852304 GRCh38 Chromosome X, 55021176: 55021176
13 ALAS2 NM_000032.4(ALAS2): c.569A> T (p.Asp190Val) single nucleotide variant Pathogenic rs28935484 GRCh37 Chromosome X, 55047554: 55047554
14 ALAS2 NM_000032.4(ALAS2): c.569A> T (p.Asp190Val) single nucleotide variant Pathogenic rs28935484 GRCh38 Chromosome X, 55021121: 55021121
15 ALAS2 NM_000032.4(ALAS2): c.1231C> T (p.Arg411Cys) single nucleotide variant Pathogenic rs137852305 GRCh37 Chromosome X, 55041386: 55041386
16 ALAS2 NM_000032.4(ALAS2): c.1231C> T (p.Arg411Cys) single nucleotide variant Pathogenic rs137852305 GRCh38 Chromosome X, 55014953: 55014953
17 ALAS2 NM_000032.4(ALAS2): c.1702A> G (p.Ser568Gly) single nucleotide variant Pathogenic rs137852306 GRCh37 Chromosome X, 55035675: 55035675
18 ALAS2 NM_000032.4(ALAS2): c.1702A> G (p.Ser568Gly) single nucleotide variant Pathogenic rs137852306 GRCh38 Chromosome X, 55009242: 55009242
19 ALAS2 NM_000032.4(ALAS2): c.1184G> A (p.Cys395Tyr) single nucleotide variant Pathogenic rs137852307 GRCh37 Chromosome X, 55041433: 55041433
20 ALAS2 NM_000032.4(ALAS2): c.1184G> A (p.Cys395Tyr) single nucleotide variant Pathogenic rs137852307 GRCh38 Chromosome X, 55015000: 55015000
21 ALAS2 NM_000032.4(ALAS2): c.475G> T (p.Asp159Tyr) single nucleotide variant Pathogenic rs137852308 GRCh37 Chromosome X, 55047648: 55047648
22 ALAS2 NM_000032.4(ALAS2): c.475G> T (p.Asp159Tyr) single nucleotide variant Pathogenic rs137852308 GRCh38 Chromosome X, 55021215: 55021215
23 ALAS2 NM_000032.4(ALAS2): c.475G> A (p.Asp159Asn) single nucleotide variant Pathogenic rs137852308 GRCh37 Chromosome X, 55047648: 55047648
24 ALAS2 NM_000032.4(ALAS2): c.475G> A (p.Asp159Asn) single nucleotide variant Pathogenic rs137852308 GRCh38 Chromosome X, 55021215: 55021215
25 ALAS2 NM_000032.4(ALAS2): c.-258C> G single nucleotide variant Uncertain significance rs140772352 GRCh37 Chromosome X, 55057617: 55057617
26 ALAS2 NM_000032.4(ALAS2): c.-258C> G single nucleotide variant Uncertain significance rs140772352 GRCh38 Chromosome X, 55031184: 55031184
27 ALAS2 NM_000032.4(ALAS2): c.1570C> G (p.His524Asp) single nucleotide variant Pathogenic rs137852309 GRCh37 Chromosome X, 55039949: 55039949
28 ALAS2 NM_000032.4(ALAS2): c.1570C> G (p.His524Asp) single nucleotide variant Pathogenic rs137852309 GRCh38 Chromosome X, 55013516: 55013516
29 ALAS2 NM_000032.4(ALAS2): c.595T> C (p.Tyr199His) single nucleotide variant Pathogenic rs137852310 GRCh37 Chromosome X, 55047528: 55047528
30 ALAS2 NM_000032.4(ALAS2): c.595T> C (p.Tyr199His) single nucleotide variant Pathogenic rs137852310 GRCh38 Chromosome X, 55021095: 55021095
31 ALAS2 NM_000032.4(ALAS2): c.1354C> T (p.Arg452Cys) single nucleotide variant Pathogenic rs137852311 GRCh37 Chromosome X, 55041263: 55041263
32 ALAS2 NM_000032.4(ALAS2): c.1354C> T (p.Arg452Cys) single nucleotide variant Pathogenic rs137852311 GRCh38 Chromosome X, 55014830: 55014830
33 SLC25A38 NM_017875.4(SLC25A38): c.165G> A (p.Leu55=) single nucleotide variant Benign rs2270770 GRCh37 Chromosome 3, 39431081: 39431081
34 SLC25A38 NM_017875.4(SLC25A38): c.165G> A (p.Leu55=) single nucleotide variant Benign rs2270770 GRCh38 Chromosome 3, 39389590: 39389590
35 SLC25A38 NM_017875.4(SLC25A38): c.-303A> C single nucleotide variant Likely benign rs114422738 GRCh38 Chromosome 3, 39383422: 39383422
36 SLC25A38 NM_017875.4(SLC25A38): c.-303A> C single nucleotide variant Likely benign rs114422738 GRCh37 Chromosome 3, 39424913: 39424913
37 SLC25A38 NM_017875.4(SLC25A38): c.239C> G (p.Thr80Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs144149294 GRCh38 Chromosome 3, 39390470: 39390470
38 SLC25A38 NM_017875.4(SLC25A38): c.239C> G (p.Thr80Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs144149294 GRCh37 Chromosome 3, 39431961: 39431961
39 SLC25A38 NM_017875.4(SLC25A38): c.446C> T (p.Thr149Met) single nucleotide variant Uncertain significance rs143865753 GRCh38 Chromosome 3, 39391610: 39391610
40 SLC25A38 NM_017875.4(SLC25A38): c.446C> T (p.Thr149Met) single nucleotide variant Uncertain significance rs143865753 GRCh37 Chromosome 3, 39433101: 39433101
41 SLC25A38 NM_017875.4(SLC25A38): c.570C> A (p.Pro190=) single nucleotide variant Uncertain significance rs886058471 GRCh38 Chromosome 3, 39391966: 39391966
42 SLC25A38 NM_017875.4(SLC25A38): c.570C> A (p.Pro190=) single nucleotide variant Uncertain significance rs886058471 GRCh37 Chromosome 3, 39433457: 39433457
43 SLC25A38 NM_017875.4(SLC25A38): c.652A> T (p.Ile218Phe) single nucleotide variant Uncertain significance rs764125735 GRCh38 Chromosome 3, 39394436: 39394436
44 SLC25A38 NM_017875.4(SLC25A38): c.652A> T (p.Ile218Phe) single nucleotide variant Uncertain significance rs764125735 GRCh37 Chromosome 3, 39435927: 39435927
45 SLC25A38 NM_017875.4(SLC25A38): c.*370C> T single nucleotide variant Uncertain significance rs886058472 GRCh38 Chromosome 3, 39396890: 39396890
46 SLC25A38 NM_017875.4(SLC25A38): c.*370C> T single nucleotide variant Uncertain significance rs886058472 GRCh37 Chromosome 3, 39438381: 39438381
47 SLC25A38 NM_017875.4(SLC25A38): c.-227G> A single nucleotide variant Uncertain significance rs886058468 GRCh38 Chromosome 3, 39383498: 39383498
48 SLC25A38 NM_017875.4(SLC25A38): c.-227G> A single nucleotide variant Uncertain significance rs886058468 GRCh37 Chromosome 3, 39424989: 39424989
49 SLC25A38 NM_017875.4(SLC25A38): c.-161G> A single nucleotide variant Uncertain significance rs528990278 GRCh38 Chromosome 3, 39383564: 39383564
50 SLC25A38 NM_017875.4(SLC25A38): c.-161G> A single nucleotide variant Uncertain significance rs528990278 GRCh37 Chromosome 3, 39425055: 39425055

Copy number variations for Anemia, Sideroblastic, 1 from CNVD:

7
# CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 264550 X 67700000 76000000 Copy number ABC7 X-linked sideroblastic anemia

Expression for Anemia, Sideroblastic, 1

Search GEO for disease gene expression data for Anemia, Sideroblastic, 1.

Pathways for Anemia, Sideroblastic, 1

GO Terms for Anemia, Sideroblastic, 1

Cellular components related to Anemia, Sideroblastic, 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mitochondrion GO:0005739 9.43 ABCB7 ACO1 ALAS1 ALAS2 FECH UROS
2 HFE-transferrin receptor complex GO:1990712 8.8 HJV TFR2 TFRC

Biological processes related to Anemia, Sideroblastic, 1 according to GeneCards Suite gene sharing:

(show all 19)
# Name GO ID Score Top Affiliating Genes
1 receptor-mediated endocytosis GO:0006898 9.71 HBB TFR2 TFRC
2 response to ethanol GO:0045471 9.67 ALAD FECH HAMP
3 biosynthetic process GO:0009058 9.58 ALAS1 ALAS2
4 acute-phase response GO:0006953 9.58 HAMP TFR2
5 response to iron ion GO:0010039 9.58 ALAD HAMP TFR2
6 iron ion homeostasis GO:0055072 9.57 HJV TFR2
7 transferrin transport GO:0033572 9.56 TFR2 TFRC
8 protoporphyrinogen IX biosynthetic process GO:0006782 9.56 ALAD ALAS1 ALAS2 UROS
9 response to zinc ion GO:0010043 9.55 ALAD HAMP
10 porphyrin-containing compound biosynthetic process GO:0006779 9.54 ALAD FECH UROS
11 response to lead ion GO:0010288 9.52 ALAD FECH
12 response to metal ion GO:0010038 9.51 ALAD FECH
13 response to platinum ion GO:0070541 9.5 ALAD FECH UROS
14 response to arsenic-containing substance GO:0046685 9.48 ALAD FECH
15 response to methylmercury GO:0051597 9.46 ALAD FECH
16 tetrapyrrole biosynthetic process GO:0033014 9.46 ALAD ALAS1 ALAS2 UROS
17 porphyrin-containing compound metabolic process GO:0006778 9.43 ALAS1 ALAS2
18 heme biosynthetic process GO:0006783 9.35 ALAD ALAS1 ALAS2 FECH UROS
19 cellular iron ion homeostasis GO:0006879 9.17 ABCB7 ACO1 ALAS2 HAMP HJV TFR2

Molecular functions related to Anemia, Sideroblastic, 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 lyase activity GO:0016829 9.56 ACO1 ALAD FECH UROS
2 pyridoxal phosphate binding GO:0030170 9.32 ALAS1 ALAS2
3 5-aminolevulinate synthase activity GO:0003870 9.16 ALAS1 ALAS2
4 transferrin receptor activity GO:0004998 8.96 TFR2 TFRC
5 transferrin transmembrane transporter activity GO:0033570 8.62 TFR2 TFRC

Sources for Anemia, Sideroblastic, 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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