SIDBA1
MCID: ANM036
MIFTS: 56

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 57 74
Xlsa 57 12 53 25 59 74
X-Linked Sideroblastic Anemia 12 75 53 25 59
Hereditary Sideroblastic Anemia 74 29 6 72
Hereditary Iron-Loading Anemia 57 53 25 74
Hypochromic Anemia 12 74 15 72
Anh1 57 53 25 74
Anemia, Sideroblastic, X-Linked 57 74 13
Erythroid 5-Aminolevulinate Synthase Deficiency 53 25
X Chromosome-Linked Sideroblastic Anemia 53 25
Anemia, Hereditary Sideroblastic 57 25
Sideroblastic Anemia 1 12 15
Anemia, Hypochromic 57 44
Anemia Hypochromic 12 55
Sidba1 57 74
X-Linked Pyridoxine-Responsive Sideroblastic Anemia 25
Anemia, Sex-Linked Hypochromic Sideroblastic 25
Anemia Sex-Linked Hypochromic Sideroblastic 53
Anemia, Sideroblastic, X-Linked; Xlsa 57
Congenital Sideroblastic Anaemia 25
Anemia Hereditary Sideroblastic 53
Congenital Sideroblastic Anemia 53
Anemia Congenital Sideroblastic 55
Sideroblastic Anemia X-Linked 53
Anemia, Sideroblastic, Type 1 40
Anemia, Hypochromic; Anh1 57

Characteristics:

Orphanet epidemiological data:

59
x-linked sideroblastic anemia
Inheritance: X-linked recessive; Age of onset: All ages;

OMIM:

57
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:

32
anemia, sideroblastic, 1:
Onset and clinical course variable expressivity
Inheritance x-linked recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0060063 DOID:11759
NCIt 50 C34380
SNOMED-CT 68 44452003
ICD10 33 D50 D64.0
MESH via Orphanet 45 C536761
ICD10 via Orphanet 34 D64.0
Orphanet 59 ORPHA75563
UMLS 72 C0002884 C0221018

Summaries for Anemia, Sideroblastic, 1

NIH Rare Diseases : 53 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 cutaneous porphyria. 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 drugs Tranexamic Acid and Hemostatics have 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 : 25 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. 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.

OMIM : 57 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 : 74 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 : 75 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 145)
# Related Disease Score Top Affiliating Genes
1 anemia, sideroblastic, and spinocerebellar ataxia 33.8 ACO1 ABCB7
2 cutaneous porphyria 32.3 UROS FECH ALAS2
3 beta-thalassemia 31.9 TFRC TFR2 HBB
4 hemosiderosis 31.2 TFRC HAMP
5 sideroblastic anemia 30.8 ALAS2 ALAS1 ABCB7
6 x-linked protoporphyria 30.7 FECH ALAS2
7 pyridoxine-responsive sideroblastic anemia 30.5 HBB ALAS2
8 atransferrinemia 30.3 TFRC TFR2 HJV HAMP ALAS2 ABCB7
9 siderosis 30.1 TFRC HBB
10 microcytic anemia 30.0 TFRC ALAS2 ACO1
11 hemoglobinopathy 29.9 HBB HAMP
12 iron metabolism disease 29.4 TFRC TFR2 HJV
13 protoporphyria, erythropoietic, 1 29.2 UROS FECH ALAS2 ALAD
14 aceruloplasminemia 29.1 TFR2 HJV HAMP ABCB7
15 iron deficiency anemia 29.0 TFRC TFR2 HJV HAMP
16 porphyria 28.8 UROS FECH ALAS2 ALAS1 ALAD
17 deficiency anemia 28.7 TFRC TFR2 HJV HBB HAMP ALAS2
18 hemochromatosis, type 1 27.5 TFRC TFR2 HJV HAMP ALAS2 ACO1
19 myopathy, lactic acidosis, and sideroblastic anemia 1 12.7
20 anemia, hypochromic microcytic, with iron overload 2 12.7
21 anemia, hypochromic microcytic, with iron overload 1 12.7
22 hypochromic microcytic anemia 12.0
23 sideroblastic anemia with b-cell immunodeficiency, periodic fevers, and developmental delay 11.7
24 iron-refractory iron deficiency anemia 11.6
25 hypochromic microcytic anemia with iron overload 11.4
26 autosomal recessive pyridoxine-refractory sideroblastic anemia 2 11.3
27 benjamin syndrome 11.3
28 anemia, sideroblastic, 4 11.3
29 anemia, sideroblastic, 3, pyridoxine-refractory 11.3
30 rare hereditary hemochromatosis 10.6
31 alpha-thalassemia 10.3
32 autosomal dominant cerebellar ataxia 10.3
33 macrocytic anemia 10.3
34 refractory anemia 10.3
35 pulmonary hemosiderosis 10.2
36 liver cirrhosis 10.2
37 ataxia and polyneuropathy, adult-onset 10.2
38 ehrlichiosis 10.2 TFRC ACO1
39 autosomal recessive sideroblastic anemia 10.2
40 anemia, sideroblastic, 2, pyridoxine-refractory 10.2
41 immune deficiency disease 10.2
42 pearson marrow-pancreas syndrome 10.2
43 hematopoietic stem cell transplantation 10.2
44 erythroleukemia, familial 10.2
45 strabismus 10.2
46 anemia, sideroblastic, pyridoxine-responsive, autosomal recessive 10.2
47 myelodysplastic syndrome 10.2
48 hereditary ataxia 10.2
49 x-linked hereditary ataxia 10.2
50 learning disability 10.2

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:

59 32 (show all 13)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 muscle weakness 59 32 hallmark (90%) Very frequent (99-80%) HP:0001324
2 fatigue 59 32 hallmark (90%) Very frequent (99-80%) HP:0012378
3 anemia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001903
4 pallor 59 32 hallmark (90%) Very frequent (99-80%) HP:0000980
5 abnormality of iron homeostasis 59 32 hallmark (90%) Very frequent (99-80%) HP:0011031
6 splenomegaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0001744
7 dyspnea 59 32 occasional (7.5%) Occasional (29-5%) HP:0002094
8 glucose intolerance 59 32 occasional (7.5%) Occasional (29-5%) HP:0001952
9 elevated hepatic transaminase 59 32 occasional (7.5%) Occasional (29-5%) HP:0002910
10 hyperpigmentation of the skin 59 32 occasional (7.5%) Occasional (29-5%) HP:0000953
11 macrocytic anemia 32 HP:0001972
12 hypochromic microcytic anemia 32 HP:0004840
13 sideroblastic anemia 32 HP:0001924

Symptoms via clinical synopsis from OMIM:

57
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:

46
# 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):

(show all 16)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Tranexamic Acid Approved Phase 4 1197-18-8 5526
2 Hemostatics Phase 4
3 Coagulants Phase 4
4 Anti-Bacterial Agents Phase 4
5 Antifibrinolytic Agents Phase 4
6 Antibiotics, Antitubercular Phase 4
7 Anti-Infective Agents Phase 4
8 Iron Supplement Phase 4
9 Lactoferrin Phase 4
10
Iron Approved, Experimental 15438-31-0, 7439-89-6 23925 27284
11 Hematinics
12 Ferric Compounds
13 ferric gluconate
14 Micronutrients
15 Nutrients
16 Trace Elements

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Tranexamic Acid in Revision Total Joint Arthroplasty: A Prospective Randomized Controlled Trial Recruiting NCT02877381 Phase 4
2 Bovine Lactoferrin Versus Ferrous Sulphate In The Treatment Of Iron Deficiency Anemia During Pregnancy: A Randomized Controlled Trial Recruiting NCT03202615 Phase 4 F (ferrous sulphate)
3 CONTROLLED RANDOMIZED PILOT STUDY TO COMPARE THE EFFICACY OF DIFFERENT IRON FORMULATIONS: SUCROSOMAL FERRIC PYROPHOSPHATE, SUNACTIVE Fe AND INTRAVENOUS FERRIC GLUCONATE Completed NCT03771092
4 New Versus Standard Enteral Iron Supplementation Regime in Very Low Birth Weight Infants - A Randomized Controlled Trial Completed NCT00683527 Elemental iron
5 Red Cell Distribution Width Index Versus Red Cell Distribution Width as Discriminating Guide for Iron Deficiency Anaemia and Beta Thalassemia Trait . Not yet recruiting NCT03868306
6 Detection of β-thalassemia Carriers Among Close Relatives of β-thalassemia Children Attending Assiut University Children Hospital Not yet recruiting NCT03822585

Search NIH Clinical Center for Anemia, Sideroblastic, 1

Inferred drug relations via UMLS 72 / NDF-RT 51 :


ferric ammonium citrate
FERRIC AMMONIUM CITRATE,GREEN

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 29 ALAS2

Anatomical Context for Anemia, Sideroblastic, 1

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

41
Bone, Bone Marrow, Skin, Liver, Heart, Spleen, Myeloid

Publications for Anemia, Sideroblastic, 1

Articles related to Anemia, Sideroblastic, 1:

(show top 50) (show all 96)
# Title Authors PMID Year
1
Late-onset X-linked sideroblastic anemia following hemodialysis. 38 8 71
12531813 2003
2
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. 38 8 71
10029606 1999
3
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. 38 8 71
7560104 1995
4
X-linked sideroblastic anemia: identification of the mutation in the erythroid-specific delta-aminolevulinate synthase gene (ALAS2) in the original family described by Cooley. 38 8 71
7949148 1994
5
Enzymatic defect in "X-linked" sideroblastic anemia: molecular evidence for erythroid delta-aminolevulinate synthase deficiency. 8 71
1570328 1992
6
Crystal structure of 5-aminolevulinate synthase, the first enzyme of heme biosynthesis, and its link to XLSA in humans. 38 71
16121195 2005
7
A promoter mutation in the erythroid-specific 5-aminolevulinate synthase (ALAS2) gene causes X-linked sideroblastic anemia. 38 71
12663458 2003
8
The genetics of inherited sideroblastic anemias. 38 8
12382202 2002
9
A novel mutation in exon 5 of the ALAS2 gene results in X-linked sideroblastic anemia. 38 71
12031592 2002
10
Familial-skewed X-chromosome inactivation as a predisposing factor for late-onset X-linked sideroblastic anemia in carrier females. 38 71
11110715 2000
11
R411C mutation of the ALAS2 gene encodes a pyridoxine-responsive enzyme with low activity. 38 71
9858242 1998
12
Pyridoxine refractory X-linked sideroblastic anemia caused by a point mutation in the erythroid 5-aminolevulinate synthase gene. 38 71
9226183 1997
13
X-linked sideroblastic anemia associated with a novel ALAS2 mutation and unfortunate skewed X-chromosome inactivation patterns. 8
16735131 2006
14
Allogeneic peripheral stem cell transplantation in a case of hereditary sideroblastic anaemia. 8
10886220 2000
15
A novel mutation of the erythroid-specific delta-aminolaevulinate synthase gene in a patient with X-linked sideroblastic anaemia. 71
10444183 1999
16
Positional cloning of the zebrafish sauternes gene: a model for congenital sideroblastic anaemia. 8
9806542 1998
17
X-linked Wiskott-Aldrich syndrome in a girl. 8
9634367 1998
18
Hereditary sideroblastic anaemia due to a mutation in exon 10 of the erythroid 5-aminolaevulinate synthase gene. 71
9488633 1998
19
X inactivation in females with X-linked disease. 8
9445416 1998
20
Nonrandom X-inactivation patterns in normal females: lyonization ratios vary with age. 8
8704202 1996
21
A new mutation of the ALAS2 gene in a large family with X-linked sideroblastic anemia. 71
7705839 1995
22
X-linked pyridoxine-responsive sideroblastic anemia due to a Thr388-to-Ser substitution in erythroid 5-aminolevulinate synthase. 71
8107717 1994
23
A family study of congenital X linked sideroblastic anaemia. 8
2308152 1990
24
Hereditary sideroblastic anemia with associated platelet abnormalities. 8
2816925 1989
25
Iron overload in mild sideroblastic anaemias. 8
6130377 1983
26
On the Xq13 breakpoint: clinical and cytogenetic observations in a patient with acute myelogenous leukemia. 8
6408876 1983
27
Three patients with structurally abnormal X chromosomes, each with Xq13 breakpoints and a history of idiopathic acquired sideroblastic anemia. 8
7053756 1982
28
Daily requirement for pyridoxine supplements in chronic renal failure. 8
7289398 1981
29
delta-Aminolevulinic acid synthetase in erythroblasts of patients with pyridoxine-responsive anemia. Hypercatabolism caused by the increased susceptibility to the controlling protease. 8
500806 1979
30
Negative control of hemoglobin production in somatic cell hybrids due to heme deficiency. 8
279921 1978
31
Aminolevulinic acid synthetase activity in erythroblasts of patients with primary sideroblastic anemia. 8
4738994 1973
32
Familial sideroblastic anaemia: problem of Xg and X chromosome inactivation. 8
4195979 1970
33
Hereditary, X-linked, sideroachrestic anemia. The isolation of two erythrocyte populations differing in Xga blood type and porphyrin content. 8
5658391 1968
34
Hereditary sideroblastic anemia and glucose-6-phosphate dehydrogenase deficiency in a Negro family. 8
4871209 1968
35
Pyridoxine-responsive hypolipidemia and hypocholesterolemia in a patient with pyridoxine-responsive anemia. 8
17926884 1966
36
Pyridoxine-responsive anaemia determined by an X-linked gene. 8
5911826 1966
37
HEREDITARY SIDEROBLASTIC ANAEMIA. 8
14247476 1965
38
PYRIDOXINE-RESPONSIVE ANEMIA: ANALYSIS OF 62 CASES. 8
14268276 1964
39
PYRIDOXINE-RESPONSIVE ANEMIA--PROTOTYPE AND VARIATIONS ON THE THEME. 8
14284127 1964
40
Pyridoxine responsive anemia. 8
13868972 1962
41
Hereditary iron-loading anemia with secondary hemochromatosis. 8
13689579 1961
42
Hereditary hypochromic anemia with transfusion hemosiderosis treated with pyridoxine: report of a case. 8
13801004 1959
43
Hereditary (sex-linked?) anemia. 8
20992689 1946
44
Generation and Molecular Characterization of Human Ring Sideroblasts: a Key Role of Ferrous Iron in Terminal Erythroid Differentiation and Ring Sideroblast Formation. 38
30670569 2019
45
Molecular expression, characterization and mechanism of ALAS2 gain-of-function mutants. 38
30678654 2019
46
Regulation and tissue-specific expression of δ-aminolevulinic acid synthases in non-syndromic sideroblastic anemias and porphyrias. 38
30737140 2019
47
Anti-Correlation between the Dynamics of the Active Site Loop and C-Terminal Tail in Relation to the Homodimer Asymmetry of the Mouse Erythroid 5-Aminolevulinate Synthase. 38
29958424 2018
48
[Successful treatment of X-linked sideroblastic anemia with ALAS2 R452H mutation using vitamin B6]. 38
29743399 2018
49
Isoniazid inhibits human erythroid 5-aminolevulinate synthase: Molecular mechanism and tolerance study with four X-linked protoporphyria patients. 38
27838491 2017
50
Intron 1 GATA site enhances ALAS2 expression indispensably during erythroid differentiation. 38
28123038 2017

Variations for Anemia, Sideroblastic, 1

ClinVar genetic disease variations for Anemia, Sideroblastic, 1:

6 (show all 47)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 ALAS2 NM_000032.5(ALAS2): c.508C> A (p.Arg170Ser) single nucleotide variant Pathogenic rs1557248142 X:55047615-55047615 X:55021182-55021182
2 ALAS2 NM_000032.5(ALAS2): c.1427T> A (p.Ile476Asn) single nucleotide variant Pathogenic rs137852299 X:55041190-55041190 X:55014757-55014757
3 ALAS2 NM_000032.5(ALAS2): c.1163C> G (p.Thr388Ser) single nucleotide variant Pathogenic rs137852300 X:55042016-55042016 X:55015583-55015583
4 ALAS2 NM_000032.5(ALAS2): c.495C> A (p.Phe165Leu) single nucleotide variant Pathogenic rs137852301 X:55047628-55047628 X:55021195-55021195
5 ALAS2 NM_000032.5(ALAS2): c.871G> A (p.Gly291Ser) single nucleotide variant Pathogenic rs137852302 X:55044051-55044051 X:55017618-55017618
6 ALAS2 NM_000032.5(ALAS2): c.895A> C (p.Lys299Gln) single nucleotide variant Pathogenic rs137852303 X:55044027-55044027 X:55017594-55017594
7 ALAS2 NM_000032.5(ALAS2): c.514G> A (p.Ala172Thr) single nucleotide variant Pathogenic rs137852304 X:55047609-55047609 X:55021176-55021176
8 ALAS2 NM_000032.5(ALAS2): c.569A> T (p.Asp190Val) single nucleotide variant Pathogenic rs28935484 X:55047554-55047554 X:55021121-55021121
9 ALAS2 NM_000032.5(ALAS2): c.1231C> T (p.Arg411Cys) single nucleotide variant Pathogenic rs137852305 X:55041386-55041386 X:55014953-55014953
10 ALAS2 NM_000032.5(ALAS2): c.1702A> G (p.Ser568Gly) single nucleotide variant Pathogenic rs137852306 X:55035675-55035675 X:55009242-55009242
11 ALAS2 NM_000032.5(ALAS2): c.1184G> A (p.Cys395Tyr) single nucleotide variant Pathogenic rs137852307 X:55041433-55041433 X:55015000-55015000
12 ALAS2 NM_000032.5(ALAS2): c.475G> T (p.Asp159Tyr) single nucleotide variant Pathogenic rs137852308 X:55047648-55047648 X:55021215-55021215
13 ALAS2 NM_000032.5(ALAS2): c.475G> A (p.Asp159Asn) single nucleotide variant Pathogenic rs137852308 X:55047648-55047648 X:55021215-55021215
14 ALAS2 NM_000032.5(ALAS2): c.1570C> G (p.His524Asp) single nucleotide variant Pathogenic rs137852309 X:55039949-55039949 X:55013516-55013516
15 ALAS2 NM_000032.5(ALAS2): c.595T> C (p.Tyr199His) single nucleotide variant Pathogenic rs137852310 X:55047528-55047528 X:55021095-55021095
16 ALAS2 NM_000032.5(ALAS2): c.1354C> T (p.Arg452Cys) single nucleotide variant Pathogenic rs137852311 X:55041263-55041263 X:55014830-55014830
17 SLC25A38 NM_017875.4(SLC25A38): c.239C> G (p.Thr80Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs144149294 3:39431961-39431961 3:39390470-39390470
18 SLC25A38 NM_017875.4(SLC25A38): c.12C> T (p.Asn4=) single nucleotide variant Conflicting interpretations of pathogenicity rs142420345 3:39425227-39425227 3:39383736-39383736
19 SLC25A38 NM_017875.4(SLC25A38): c.462G> A (p.Gly154=) single nucleotide variant Conflicting interpretations of pathogenicity rs369980078 3:39433349-39433349 3:39391858-39391858
20 SLC25A38 NM_017875.4(SLC25A38): c.*404G> A single nucleotide variant Uncertain significance rs886058473 3:39438415-39438415 3:39396924-39396924
21 SLC25A38 NM_017875.4(SLC25A38): c.-69C> T single nucleotide variant Uncertain significance rs886058470 3:39425147-39425147 3:39383656-39383656
22 SLC25A38 NM_017875.4(SLC25A38): c.288A> G (p.Arg96=) single nucleotide variant Uncertain significance rs765578993 3:39432943-39432943 3:39391452-39391452
23 SLC25A38 NM_017875.4(SLC25A38): c.*304C> T single nucleotide variant Uncertain significance rs113251543 3:39438315-39438315 3:39396824-39396824
24 SLC25A38 NM_017875.4(SLC25A38): c.*490G> A single nucleotide variant Uncertain significance rs150889211 3:39438501-39438501 3:39397010-39397010
25 SLC25A38 NM_017875.4(SLC25A38): c.-292G> A single nucleotide variant Uncertain significance rs142441701 3:39424924-39424924 3:39383433-39383433
26 SLC25A38 NM_017875.4(SLC25A38): c.-237G> A single nucleotide variant Uncertain significance rs527536267 3:39424979-39424979 3:39383488-39383488
27 SLC25A38 NM_017875.4(SLC25A38): c.-225G> A single nucleotide variant Uncertain significance rs370977005 3:39424991-39424991 3:39383500-39383500
28 SLC25A38 NM_017875.4(SLC25A38): c.-219T> C single nucleotide variant Uncertain significance rs886058469 3:39424997-39424997 3:39383506-39383506
29 SLC25A38 NM_017875.4(SLC25A38): c.161G> A (p.Arg54His) single nucleotide variant Uncertain significance rs144319567 3:39431077-39431077 3:39389586-39389586
30 SLC25A38 NM_017875.4(SLC25A38): c.*431G> A single nucleotide variant Uncertain significance rs73058292 3:39438442-39438442 3:39396951-39396951
31 SLC25A38 NM_017875.4(SLC25A38): c.-325G> C single nucleotide variant Uncertain significance rs886058467 3:39424891-39424891 3:39383400-39383400
32 SLC25A38 NM_017875.4(SLC25A38): c.446C> T (p.Thr149Met) single nucleotide variant Uncertain significance rs143865753 3:39433101-39433101 3:39391610-39391610
33 SLC25A38 NM_017875.4(SLC25A38): c.570C> A (p.Pro190=) single nucleotide variant Uncertain significance rs886058471 3:39433457-39433457 3:39391966-39391966
34 SLC25A38 NM_017875.4(SLC25A38): c.652A> T (p.Ile218Phe) single nucleotide variant Uncertain significance rs764125735 3:39435927-39435927 3:39394436-39394436
35 SLC25A38 NM_017875.4(SLC25A38): c.*370C> T single nucleotide variant Uncertain significance rs886058472 3:39438381-39438381 3:39396890-39396890
36 SLC25A38 NM_017875.4(SLC25A38): c.-227G> A single nucleotide variant Uncertain significance rs886058468 3:39424989-39424989 3:39383498-39383498
37 SLC25A38 NM_017875.4(SLC25A38): c.-161G> A single nucleotide variant Uncertain significance rs528990278 3:39425055-39425055 3:39383564-39383564
38 ALAS2 NM_000032.4(ALAS2): c.-258C> G single nucleotide variant Uncertain significance rs140772352 X:55057617-55057617 X:55031184-55031184
39 SLC25A38 NM_017875.4(SLC25A38): c.-209A> G single nucleotide variant Likely benign rs143903497 3:39425007-39425007 3:39383516-39383516
40 SLC25A38 NM_017875.4(SLC25A38): c.*588T> A single nucleotide variant Likely benign rs6890 3:39438599-39438599 3:39397108-39397108
41 SLC25A38 NM_017875.4(SLC25A38): c.*809C> T single nucleotide variant Likely benign rs71325527 3:39438820-39438820 3:39397329-39397329
42 SLC25A38 NM_017875.4(SLC25A38): c.-303A> C single nucleotide variant Likely benign rs114422738 3:39424913-39424913 3:39383422-39383422
43 SLC25A38 NM_017875.4(SLC25A38): c.*472G> T single nucleotide variant Likely benign rs141567816 3:39438483-39438483 3:39396992-39396992
44 SLC25A38 NM_017875.4(SLC25A38): c.382A> G (p.Met128Val) single nucleotide variant Benign/Likely benign rs146940902 3:39433037-39433037 3:39391546-39391546
45 SLC25A38 NM_017875.4(SLC25A38): c.*310A> T single nucleotide variant Benign rs12991 3:39438321-39438321 3:39396830-39396830
46 SLC25A38 NM_017875.4(SLC25A38): c.165G> A (p.Leu55=) single nucleotide variant Benign rs2270770 3:39431081-39431081 3:39389590-39389590
47 SLC25A38 NM_017875.4(SLC25A38): c.*642del deletion Benign rs34288981 3:39438653-39438653 3:39397162-39397162

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

74 (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

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 UROS FECH ALAS2 ALAS1 ACO1 ABCB7
2 HFE-transferrin receptor complex GO:1990712 8.8 TFRC TFR2 HJV

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

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 UROS FECH ALAD ACO1
2 pyridoxal phosphate binding GO:0030170 9.32 ALAS2 ALAS1
3 transferrin transmembrane transporter activity GO:0033570 9.16 TFRC TFR2
4 transferrin receptor activity GO:0004998 8.96 TFRC TFR2
5 5-aminolevulinate synthase activity GO:0003870 8.62 ALAS2 ALAS1

Sources for Anemia, Sideroblastic, 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
Content
Loading form....