SIDBA1
MCID: ANM036
MIFTS: 57

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 56 73
Xlsa 56 12 52 25 58 73
X-Linked Sideroblastic Anemia 12 74 52 25 58
Hereditary Sideroblastic Anemia 73 29 6 71
Hereditary Iron-Loading Anemia 56 52 25 73
Hypochromic Anemia 12 73 15 71
Anh1 56 52 25 73
Anemia, Sideroblastic, X-Linked 56 73 13
Erythroid 5-Aminolevulinate Synthase Deficiency 52 25
X Chromosome-Linked Sideroblastic Anemia 52 25
Anemia, Hereditary Sideroblastic 56 25
Sideroblastic Anemia 1 12 15
Anemia, Hypochromic 56 43
Anemia Hypochromic 12 54
Sidba1 56 73
X-Linked Pyridoxine-Responsive Sideroblastic Anemia 25
Anemia, Sex-Linked Hypochromic Sideroblastic 25
Anemia Sex-Linked Hypochromic Sideroblastic 52
Anemia, Sideroblastic, X-Linked; Xlsa 56
Congenital Sideroblastic Anaemia 25
Anemia Hereditary Sideroblastic 52
Congenital Sideroblastic Anemia 52
Anemia Congenital Sideroblastic 54
Sideroblastic Anemia X-Linked 52
Anemia, Sideroblastic, Type 1 39
Anemia, Hypochromic; Anh1 56

Characteristics:

Orphanet epidemiological data:

58
x-linked sideroblastic anemia
Inheritance: X-linked recessive; Age of onset: All ages;

OMIM:

56
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:

31
anemia, sideroblastic, 1:
Onset and clinical course variable expressivity
Inheritance x-linked recessive inheritance


Classifications:

Orphanet: 58  
Inborn errors of metabolism
Rare haematological diseases


External Ids:

Disease Ontology 12 DOID:0060063 DOID:11759
OMIM 56 300751
OMIM Phenotypic Series 56 PS300751
NCIt 49 C34380
SNOMED-CT 67 44452003
ICD10 32 D50 D64.0
MESH via Orphanet 44 C536761
ICD10 via Orphanet 33 D64.0
Orphanet 58 ORPHA75563
UMLS 71 C0002884 C0221018

Summaries for Anemia, Sideroblastic, 1

NIH Rare Diseases : 52 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 beta-thalassemia. An important gene associated with Anemia, Sideroblastic, 1 is ALAS2 (5'-Aminolevulinate Synthase 2), and among its related pathways/superpathways are Porphyrin and chlorophyll metabolism and Ferroptosis. The drugs Iron Supplement and Anti-Infective Agents have been mentioned in the context of this disorder. Affiliated tissues include bone, bone marrow and liver, 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 : 56 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 : 73 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 : 74 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 158)
# Related Disease Score Top Affiliating Genes
1 anemia, sideroblastic, and spinocerebellar ataxia 32.9 SLC25A38 SLC25A37 IBA57 GLRX5 FECH ALAS2
2 beta-thalassemia 32.2 TFRC TFR2 HJV HAMP
3 hypochromic microcytic anemia 32.1 STEAP3 SLC25A38 IBA57 HJV HAMP GLRX5
4 cutaneous porphyria 31.9 UROS SLC25A38 FECH ALAS2 ALAS1 ALAD
5 atransferrinemia 31.9 TFRC TFR2 SLC40A1 HJV HAMP
6 x-linked protoporphyria 30.9 FECH ALAS2
7 anemia, sideroblastic, 2, pyridoxine-refractory 30.8 SLC25A38 GLRX5
8 pearson marrow-pancreas syndrome 30.4 SLC25A38 PUS1 GLRX5 ALAS2 ABCB7
9 hemoglobinopathy 30.1 TFRC TFR2 HJV HAMP ALAS2
10 hemosiderosis 29.9 TFRC TFR2 SLC40A1 IREB2 HJV HAMP
11 siderosis 29.7 TFRC TFR2 SLC40A1 HJV HAMP
12 iron deficiency anemia 29.5 TFRC TFR2 SLC40A1 HJV HAMP
13 thalassemia 29.5 TFRC TFR2 SLC40A1 HJV HAMP
14 iron metabolism disease 29.3 TFRC TFR2 SLC40A1 IREB2 HJV HAMP
15 microcytic anemia 28.8 TFRC STEAP3 SLC40A1 IREB2 HJV HAMP
16 deficiency anemia 28.3 TFRC TFR2 STEAP3 SLC40A1 SLC25A38 SLC25A37
17 porphyria 28.2 UROS TFRC TFR2 SLC40A1 HJV HAMP
18 protoporphyria, erythropoietic, 1 28.2 UROS TFRC SLC25A38 SLC25A37 SLC25A28 IREB2
19 sideroblastic anemia 28.2 TFRC TFR2 SLC40A1 SLC25A38 PUS1 IREB2
20 hemochromatosis, type 1 28.1 TFRC TFR2 STEAP3 SLC40A1 SLC25A37 IREB2
21 aceruloplasminemia 27.8 TFRC TFR2 SLC40A1 SLC25A38 SLC25A28 IREB2
22 myopathy, lactic acidosis, and sideroblastic anemia 1 12.8
23 anemia, hypochromic microcytic, with iron overload 2 12.7
24 anemia, hypochromic microcytic, with iron overload 1 12.7
25 sideroblastic anemia with b-cell immunodeficiency, periodic fevers, and developmental delay 11.7
26 iron-refractory iron deficiency anemia 11.6
27 hypochromic microcytic anemia with iron overload 11.4
28 autosomal recessive pyridoxine-refractory sideroblastic anemia 2 11.3
29 benjamin syndrome 11.3
30 anemia, sideroblastic, 4 11.3
31 anemia, sideroblastic, 3, pyridoxine-refractory 11.3
32 rare hereditary hemochromatosis 10.6
33 x-linked cerebellar ataxia 10.5 ALAS2 ABCB7
34 alpha-thalassemia 10.4
35 autosomal dominant cerebellar ataxia 10.3
36 refractory anemia 10.3
37 pulmonary hemosiderosis 10.2
38 liver cirrhosis 10.2
39 multiple mitochondrial dysfunctions syndrome 4 10.2 IBA57 GLRX5
40 ataxia and polyneuropathy, adult-onset 10.2
41 autosomal recessive sideroblastic anemia 10.2
42 infantile cerebellar-retinal degeneration 10.2 IBA57 ACO1
43 immune deficiency disease 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 pyridoxine-responsive sideroblastic anemia 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:

58 31 (show all 13)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 muscle weakness 58 31 hallmark (90%) Very frequent (99-80%) HP:0001324
2 fatigue 58 31 hallmark (90%) Very frequent (99-80%) HP:0012378
3 anemia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001903
4 pallor 58 31 hallmark (90%) Very frequent (99-80%) HP:0000980
5 abnormality of iron homeostasis 58 31 hallmark (90%) Very frequent (99-80%) HP:0011031
6 splenomegaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0001744
7 dyspnea 58 31 occasional (7.5%) Occasional (29-5%) HP:0002094
8 glucose intolerance 58 31 occasional (7.5%) Occasional (29-5%) HP:0001952
9 elevated hepatic transaminase 58 31 occasional (7.5%) Occasional (29-5%) HP:0002910
10 hyperpigmentation of the skin 58 31 occasional (7.5%) Occasional (29-5%) HP:0000953
11 macrocytic anemia 31 HP:0001972
12 hypochromic microcytic anemia 31 HP:0004840
13 sideroblastic anemia 31 HP:0001924

Symptoms via clinical synopsis from OMIM:

56
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:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 10 ALAS2 FECH HJV IREB2 SLC25A28 SLC25A37
2 homeostasis/metabolism MP:0005376 10 ABCB7 ACO1 ALAD ALAS2 FECH HJV
3 integument MP:0010771 9.56 ALAS2 FECH HJV IREB2 SLC25A37 SLC40A1
4 liver/biliary system MP:0005370 9.32 ABCB7 FECH HJV IREB2 SLC25A37 SLC40A1

Drugs & Therapeutics for Anemia, Sideroblastic, 1

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

(show all 10)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Iron Supplement Phase 4
2 Anti-Infective Agents Phase 4
3 Lactoferrin Phase 4
4
Iron Approved, Experimental 7439-89-6, 15438-31-0 23925 27284
5 ferric gluconate
6 Hematinics
7 Ferric Compounds
8 Nutrients
9 Trace Elements
10 Micronutrients

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 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)
2 CONTROLLED RANDOMIZED PILOT STUDY TO COMPARE THE EFFICACY OF DIFFERENT IRON FORMULATIONS: SUCROSOMAL FERRIC PYROPHOSPHATE, SUNACTIVE Fe AND INTRAVENOUS FERRIC GLUCONATE Completed NCT03771092
3 New Versus Standard Enteral Iron Supplementation Regime in Very Low Birth Weight Infants - A Randomized Controlled Trial Completed NCT00683527 Elemental iron
4 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
5 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 71 / NDF-RT 50 :


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:

40
Bone, Bone Marrow, Liver, Heart, Skin, 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. 61 56 6
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. 61 56 6
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. 61 56 6
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. 61 56 6
7949148 1994
5
Enzymatic defect in "X-linked" sideroblastic anemia: molecular evidence for erythroid delta-aminolevulinate synthase deficiency. 56 6
1570328 1992
6
Crystal structure of 5-aminolevulinate synthase, the first enzyme of heme biosynthesis, and its link to XLSA in humans. 61 6
16121195 2005
7
A promoter mutation in the erythroid-specific 5-aminolevulinate synthase (ALAS2) gene causes X-linked sideroblastic anemia. 61 6
12663458 2003
8
The genetics of inherited sideroblastic anemias. 61 56
12382202 2002
9
A novel mutation in exon 5 of the ALAS2 gene results in X-linked sideroblastic anemia. 61 6
12031592 2002
10
Familial-skewed X-chromosome inactivation as a predisposing factor for late-onset X-linked sideroblastic anemia in carrier females. 61 6
11110715 2000
11
R411C mutation of the ALAS2 gene encodes a pyridoxine-responsive enzyme with low activity. 61 6
9858242 1998
12
Pyridoxine refractory X-linked sideroblastic anemia caused by a point mutation in the erythroid 5-aminolevulinate synthase gene. 61 6
9226183 1997
13
X-linked sideroblastic anemia associated with a novel ALAS2 mutation and unfortunate skewed X-chromosome inactivation patterns. 56
16735131 2006
14
Allogeneic peripheral stem cell transplantation in a case of hereditary sideroblastic anaemia. 56
10886220 2000
15
A novel mutation of the erythroid-specific delta-aminolaevulinate synthase gene in a patient with X-linked sideroblastic anaemia. 6
10444183 1999
16
Positional cloning of the zebrafish sauternes gene: a model for congenital sideroblastic anaemia. 56
9806542 1998
17
X-linked Wiskott-Aldrich syndrome in a girl. 56
9634367 1998
18
Hereditary sideroblastic anaemia due to a mutation in exon 10 of the erythroid 5-aminolaevulinate synthase gene. 6
9488633 1998
19
X inactivation in females with X-linked disease. 56
9445416 1998
20
Nonrandom X-inactivation patterns in normal females: lyonization ratios vary with age. 56
8704202 1996
21
A new mutation of the ALAS2 gene in a large family with X-linked sideroblastic anemia. 6
7705839 1995
22
X-linked pyridoxine-responsive sideroblastic anemia due to a Thr388-to-Ser substitution in erythroid 5-aminolevulinate synthase. 6
8107717 1994
23
A family study of congenital X linked sideroblastic anaemia. 56
2308152 1990
24
Hereditary sideroblastic anemia with associated platelet abnormalities. 56
2816925 1989
25
Iron overload in mild sideroblastic anaemias. 56
6130377 1983
26
On the Xq13 breakpoint: clinical and cytogenetic observations in a patient with acute myelogenous leukemia. 56
6408876 1983
27
Three patients with structurally abnormal X chromosomes, each with Xq13 breakpoints and a history of idiopathic acquired sideroblastic anemia. 56
7053756 1982
28
Daily requirement for pyridoxine supplements in chronic renal failure. 56
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. 56
500806 1979
30
Negative control of hemoglobin production in somatic cell hybrids due to heme deficiency. 56
279921 1978
31
Aminolevulinic acid synthetase activity in erythroblasts of patients with primary sideroblastic anemia. 56
4738994 1973
32
Familial sideroblastic anaemia: problem of Xg and X chromosome inactivation. 56
4195979 1970
33
Hereditary, X-linked, sideroachrestic anemia. The isolation of two erythrocyte populations differing in Xga blood type and porphyrin content. 56
5658391 1968
34
Hereditary sideroblastic anemia and glucose-6-phosphate dehydrogenase deficiency in a Negro family. 56
4871209 1968
35
Pyridoxine-responsive hypolipidemia and hypocholesterolemia in a patient with pyridoxine-responsive anemia. 56
17926884 1966
36
Pyridoxine-responsive anaemia determined by an X-linked gene. 56
5911826 1966
37
HEREDITARY SIDEROBLASTIC ANAEMIA. 56
14247476 1965
38
PYRIDOXINE-RESPONSIVE ANEMIA--PROTOTYPE AND VARIATIONS ON THE THEME. 56
14284127 1964
39
PYRIDOXINE-RESPONSIVE ANEMIA: ANALYSIS OF 62 CASES. 56
14268276 1964
40
Pyridoxine responsive anemia. 56
13868972 1962
41
Hereditary iron-loading anemia with secondary hemochromatosis. 56
13689579 1961
42
Hereditary hypochromic anemia with transfusion hemosiderosis treated with pyridoxine: report of a case. 56
13801004 1959
43
Hereditary (sex-linked?) anemia. 56
20992689 1946
44
Regulation and tissue-specific expression of δ-aminolevulinic acid synthases in non-syndromic sideroblastic anemias and porphyrias. 61
30737140 2019
45
Generation and Molecular Characterization of Human Ring Sideroblasts: a Key Role of Ferrous Iron in Terminal Erythroid Differentiation and Ring Sideroblast Formation. 61
30670569 2019
46
Molecular expression, characterization and mechanism of ALAS2 gain-of-function mutants. 61
30678654 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. 61
29958424 2018
48
[Successful treatment of X-linked sideroblastic anemia with ALAS2 R452H mutation using vitamin B6]. 61
29743399 2018
49
Isoniazid inhibits human erythroid 5-aminolevulinate synthase: Molecular mechanism and tolerance study with four X-linked protoporphyria patients. 61
27838491 2017
50
Intron 1 GATA site enhances ALAS2 expression indispensably during erythroid differentiation. 61
28123038 2017

Variations for Anemia, Sideroblastic, 1

ClinVar genetic disease variations for Anemia, Sideroblastic, 1:

6 (show all 49) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ALAS2 NM_000032.5(ALAS2):c.1427T>A (p.Ile476Asn)SNV Pathogenic 10468 rs137852299 X:55041190-55041190 X:55014757-55014757
2 ALAS2 NM_000032.5(ALAS2):c.1163C>G (p.Thr388Ser)SNV Pathogenic 10469 rs137852300 X:55042016-55042016 X:55015583-55015583
3 ALAS2 NM_000032.5(ALAS2):c.495C>A (p.Phe165Leu)SNV Pathogenic 10470 rs137852301 X:55047628-55047628 X:55021195-55021195
4 ALAS2 NM_000032.5(ALAS2):c.871G>A (p.Gly291Ser)SNV Pathogenic 10471 rs137852302 X:55044051-55044051 X:55017618-55017618
5 ALAS2 NM_000032.5(ALAS2):c.895A>C (p.Lys299Gln)SNV Pathogenic 10472 rs137852303 X:55044027-55044027 X:55017594-55017594
6 ALAS2 NM_000032.5(ALAS2):c.514G>A (p.Ala172Thr)SNV Pathogenic 10473 rs137852304 X:55047609-55047609 X:55021176-55021176
7 ALAS2 NM_000032.5(ALAS2):c.569A>T (p.Asp190Val)SNV Pathogenic 10474 rs28935484 X:55047554-55047554 X:55021121-55021121
8 ALAS2 NM_000032.5(ALAS2):c.1231C>T (p.Arg411Cys)SNV Pathogenic 10475 rs137852305 X:55041386-55041386 X:55014953-55014953
9 ALAS2 NM_000032.5(ALAS2):c.1702A>G (p.Ser568Gly)SNV Pathogenic 10476 rs137852306 X:55035675-55035675 X:55009242-55009242
10 ALAS2 NM_000032.5(ALAS2):c.1184G>A (p.Cys395Tyr)SNV Pathogenic 10477 rs137852307 X:55041433-55041433 X:55015000-55015000
11 ALAS2 NM_000032.5(ALAS2):c.475G>T (p.Asp159Tyr)SNV Pathogenic 10478 rs137852308 X:55047648-55047648 X:55021215-55021215
12 ALAS2 NM_000032.5(ALAS2):c.475G>A (p.Asp159Asn)SNV Pathogenic 10479 rs137852308 X:55047648-55047648 X:55021215-55021215
13 ALAS2 NM_000032.5(ALAS2):c.1570C>G (p.His524Asp)SNV Pathogenic 10481 rs137852309 X:55039949-55039949 X:55013516-55013516
14 ALAS2 NM_000032.5(ALAS2):c.595T>C (p.Tyr199His)SNV Pathogenic 10484 rs137852310 X:55047528-55047528 X:55021095-55021095
15 ALAS2 NM_000032.5(ALAS2):c.1354C>T (p.Arg452Cys)SNV Pathogenic 10485 rs137852311 X:55041263-55041263 X:55014830-55014830
16 ALAS2 NM_000032.5(ALAS2):c.508C>A (p.Arg170Ser)SNV Pathogenic 440879 rs1557248142 X:55047615-55047615 X:55021182-55021182
17 SLC25A38 NM_017875.4(SLC25A38):c.462G>A (p.Gly154=)SNV Conflicting interpretations of pathogenicity 345149 rs369980078 3:39433349-39433349 3:39391858-39391858
18 SLC25A38 NM_017875.4(SLC25A38):c.239C>G (p.Thr80Arg)SNV Conflicting interpretations of pathogenicity 345145 rs144149294 3:39431961-39431961 3:39390470-39390470
19 ALAS2 NM_000032.5(ALAS2):c.1559C>T (p.Pro520Leu)SNV Conflicting interpretations of pathogenicity 214088 rs201062903 X:55039960-55039960 X:55013527-55013527
20 SLC25A38 NM_017875.4(SLC25A38):c.12C>T (p.Asn4=)SNV Conflicting interpretations of pathogenicity 345143 rs142420345 3:39425227-39425227 3:39383736-39383736
21 SLC25A38 NM_017875.4(SLC25A38):c.*304C>TSNV Uncertain significance 345152 rs113251543 3:39438315-39438315 3:39396824-39396824
22 SLC25A38 NM_017875.4(SLC25A38):c.*490G>ASNV Uncertain significance 345158 rs150889211 3:39438501-39438501 3:39397010-39397010
23 SLC25A38 NM_017875.4(SLC25A38):c.-292G>ASNV Uncertain significance 345135 rs142441701 3:39424924-39424924 3:39383433-39383433
24 SLC25A38 NM_017875.4(SLC25A38):c.-237G>ASNV Uncertain significance 345136 rs527536267 3:39424979-39424979 3:39383488-39383488
25 SLC25A38 NM_017875.4(SLC25A38):c.-225G>ASNV Uncertain significance 345138 rs370977005 3:39424991-39424991 3:39383500-39383500
26 SLC25A38 NM_017875.4(SLC25A38):c.-219T>CSNV Uncertain significance 345139 rs886058469 3:39424997-39424997 3:39383506-39383506
27 SLC25A38 NM_017875.4(SLC25A38):c.161G>A (p.Arg54His)SNV Uncertain significance 345144 rs144319567 3:39431077-39431077 3:39389586-39389586
28 SLC25A38 NM_017875.4(SLC25A38):c.*431G>ASNV Uncertain significance 345156 rs73058292 3:39438442-39438442 3:39396951-39396951
29 SLC25A38 NM_017875.4(SLC25A38):c.-325G>CSNV Uncertain significance 345133 rs886058467 3:39424891-39424891 3:39383400-39383400
30 SLC25A38 NM_017875.4(SLC25A38):c.446C>T (p.Thr149Met)SNV Uncertain significance 345148 rs143865753 3:39433101-39433101 3:39391610-39391610
31 SLC25A38 NM_017875.4(SLC25A38):c.570C>A (p.Pro190=)SNV Uncertain significance 345150 rs886058471 3:39433457-39433457 3:39391966-39391966
32 SLC25A38 NM_017875.4(SLC25A38):c.652A>T (p.Ile218Phe)SNV Uncertain significance 345151 rs764125735 3:39435927-39435927 3:39394436-39394436
33 SLC25A38 NM_017875.4(SLC25A38):c.*370C>TSNV Uncertain significance 345154 rs886058472 3:39438381-39438381 3:39396890-39396890
34 SLC25A38 NM_017875.4(SLC25A38):c.-227G>ASNV Uncertain significance 345137 rs886058468 3:39424989-39424989 3:39383498-39383498
35 SLC25A38 NM_017875.4(SLC25A38):c.-161G>ASNV Uncertain significance 345141 rs528990278 3:39425055-39425055 3:39383564-39383564
36 ALAS2 NM_000032.5(ALAS2):c.1757A>T (p.Tyr586Phe)SNV Uncertain significance 40978 rs139596860 X:55035620-55035620 X:55009187-55009187
37 ALAS2 NM_000032.4(ALAS2):c.-258C>GSNV Uncertain significance 10480 rs140772352 X:55057617-55057617 X:55031184-55031184
38 SLC25A38 NM_017875.4(SLC25A38):c.*404G>ASNV Uncertain significance 345155 rs886058473 3:39438415-39438415 3:39396924-39396924
39 SLC25A38 NM_017875.4(SLC25A38):c.-69C>TSNV Uncertain significance 345142 rs886058470 3:39425147-39425147 3:39383656-39383656
40 SLC25A38 NM_017875.4(SLC25A38):c.288A>G (p.Arg96=)SNV Uncertain significance 345146 rs765578993 3:39432943-39432943 3:39391452-39391452
41 SLC25A38 NM_017875.4(SLC25A38):c.*809C>TSNV Likely benign 369419 rs71325527 3:39438820-39438820 3:39397329-39397329
42 SLC25A38 NM_017875.4(SLC25A38):c.*472G>TSNV Likely benign 345157 rs141567816 3:39438483-39438483 3:39396992-39396992
43 SLC25A38 NM_017875.4(SLC25A38):c.-209A>GSNV Likely benign 345140 rs143903497 3:39425007-39425007 3:39383516-39383516
44 SLC25A38 NM_017875.4(SLC25A38):c.*588T>ASNV Likely benign 345159 rs6890 3:39438599-39438599 3:39397108-39397108
45 SLC25A38 NM_017875.4(SLC25A38):c.-303A>CSNV Likely benign 345134 rs114422738 3:39424913-39424913 3:39383422-39383422
46 SLC25A38 NM_017875.4(SLC25A38):c.382A>G (p.Met128Val)SNV Benign/Likely benign 345147 rs146940902 3:39433037-39433037 3:39391546-39391546
47 SLC25A38 NM_017875.4(SLC25A38):c.*310A>TSNV Benign 345153 rs12991 3:39438321-39438321 3:39396830-39396830
48 SLC25A38 NM_017875.4(SLC25A38):c.165G>A (p.Leu55=)SNV Benign 281680 rs2270770 3:39431081-39431081 3:39389590-39389590
49 SLC25A38 NM_017875.4(SLC25A38):c.*642deldeletion Benign 345160 rs34288981 3:39438645-39438645 3:39397154-39397154

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

73 (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 Chromosome 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 mitochondrial inner membrane GO:0005743 9.8 SLC25A38 SLC25A37 SLC25A28 FECH ALAS2 ABCB7
2 mitochondrial matrix GO:0005759 9.73 PUS1 IBA57 GLRX5 FECH ALAS2 ALAS1
3 cell GO:0005623 9.65 TFRC TFR2 SLC40A1 IREB2 HJV HAMP
4 mitochondrion GO:0005739 9.44 UROS SLC25A38 SLC25A37 SLC25A28 PUS1 IREB2
5 HFE-transferrin receptor complex GO:1990712 9.33 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 response to ethanol GO:0045471 9.75 HAMP FECH ALAD
2 iron ion homeostasis GO:0055072 9.7 TFR2 STEAP3 SLC40A1 SLC25A37 SLC25A28 IREB2
3 transferrin transport GO:0033572 9.67 TFRC TFR2 STEAP3
4 iron ion transport GO:0006826 9.67 TFRC TFR2 SLC40A1 IREB2
5 protoporphyrinogen IX biosynthetic process GO:0006782 9.65 UROS IREB2 ALAS2 ALAS1 ALAD
6 response to iron ion GO:0010039 9.63 TFR2 HAMP ALAD
7 tetrapyrrole biosynthetic process GO:0033014 9.62 UROS ALAS2 ALAS1 ALAD
8 porphyrin-containing compound biosynthetic process GO:0006779 9.61 UROS FECH ALAD
9 response to lead ion GO:0010288 9.58 FECH ALAD
10 response to platinum ion GO:0070541 9.58 UROS FECH ALAD
11 intestinal absorption GO:0050892 9.57 IREB2 ACO1
12 response to arsenic-containing substance GO:0046685 9.56 FECH ALAD
13 multicellular organismal iron ion homeostasis GO:0060586 9.55 SLC40A1 HAMP
14 response to methylmercury GO:0051597 9.54 FECH ALAD
15 porphyrin-containing compound metabolic process GO:0006778 9.52 ALAS2 ALAS1
16 citrate metabolic process GO:0006101 9.51 IREB2 ACO1
17 heme biosynthetic process GO:0006783 9.5 UROS SLC25A38 IBA57 FECH ALAS2 ALAS1
18 iron import into the mitochondrion GO:0048250 9.48 SLC25A37 SLC25A28
19 cellular iron ion homeostasis GO:0006879 9.28 TFRC TFR2 SLC40A1 IREB2 HJV HAMP

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 9.73 UROS FECH ALAD ACO1
2 2 iron, 2 sulfur cluster binding GO:0051537 9.46 GLRX5 FECH
3 aconitate hydratase activity GO:0003994 9.4 IREB2 ACO1
4 transferrin transmembrane transporter activity GO:0033570 9.37 TFRC TFR2
5 iron-responsive element binding GO:0030350 9.32 IREB2 ACO1
6 transferrin receptor activity GO:0004998 9.26 TFRC TFR2
7 iron-sulfur cluster binding GO:0051536 9.26 IREB2 GLRX5 FECH ACO1
8 5-aminolevulinate synthase activity GO:0003870 9.16 ALAS2 ALAS1
9 iron ion transmembrane transporter activity GO:0005381 8.8 SLC40A1 SLC25A37 SLC25A28

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 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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