SIDBA1
MCID: ANM036
MIFTS: 63

Anemia, Sideroblastic, 1 (SIDBA1)

Categories: Blood diseases, Bone diseases, Genetic diseases, Immune diseases, Metabolic diseases, Rare diseases
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Aliases & Classifications for Anemia, Sideroblastic, 1

MalaCards integrated aliases for Anemia, Sideroblastic, 1:

Name: Anemia, Sideroblastic, 1 57 73
Xlsa 57 11 19 42 58 73
X-Linked Sideroblastic Anemia 11 19 42 58 75
Hereditary Iron-Loading Anemia 57 19 42 73
Hypochromic Anemia 11 73 14 71
Anh1 57 19 42 73
Erythroid 5-Aminolevulinate Synthase Deficiency 19 42 5
Anemia, Hereditary Sideroblastic 57 42 75
Anemia, Sideroblastic, X-Linked 57 73 12
Hereditary Sideroblastic Anemia 73 28 71
X Chromosome-Linked Sideroblastic Anemia 19 42
Sideroblastic Anemia 1 11 14
Anemia, Hypochromic 57 43
Anemia Hypochromic 11 53
Sidba1 57 73
X-Linked Pyridoxine-Responsive Sideroblastic Anemia 42
Anemia, Sex-Linked Hypochromic Sideroblastic 42
Sex-Linked Hypochromic Sideroblastic Anaemia 33
Anemia Sex-Linked Hypochromic Sideroblastic 19
Autosomal Recessive Sideroblastic Anaemia 33
Familial Sex Linked Hypochromic Anaemia 33
Congenital Sideroblastic Anaemia 42
Anemia Hereditary Sideroblastic 19
Congenital Sideroblastic Anemia 19
Anemia Congenital Sideroblastic 53
X-Linked Sideroblastic Anaemia 11
Sideroblastic Anemia X-Linked 19
Anemia, Sideroblastic, Type 1 38
Sideroblastic Anaemia 1 11

Characteristics:


Inheritance:

Anemia, Sideroblastic, 1: X-linked recessive 57
X-Linked Sideroblastic Anemia: X-linked recessive 58

Age Of Onset:

X-Linked Sideroblastic Anemia: All ages 58

OMIM®:

57 (Updated 08-Dec-2022)
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


Classifications:

Orphanet: 58  
Inborn errors of metabolism
Rare haematological diseases


External Ids:

Disease Ontology 11 DOID:0060063 DOID:11759
OMIM® 57 300751
OMIM Phenotypic Series 57 PS300751
NCIt 49 C34380
SNOMED-CT 68 44452003
ICD10 31 D50 D64.0
MESH via Orphanet 44 C536761
ICD10 via Orphanet 32 D64.0
Orphanet 58 ORPHA75563
UMLS 71 C0002884 C0221018

Summaries for Anemia, Sideroblastic, 1

GARD: 19 X-linked sideroblastic anemia is an inherited disorder that prevents developing red blood cells (erythroblasts) from making enough 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 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, more serious 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 genetic change in the ALAS2 gene. In rare cases, genetic changes 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 sideroblastic anemia with b-cell immunodeficiency, periodic fevers, and developmental delay and atransferrinemia. An important gene associated with Anemia, Sideroblastic, 1 is ALAS2 (5'-Aminolevulinate Synthase 2), and among its related pathways/superpathways are Metabolism and Transport of inorganic cations/anions and amino acids/oligopeptides. The drugs Busulfan and Fludarabine have been mentioned in the context of this disorder. Affiliated tissues include bone marrow, liver and bone, and related phenotypes are muscle weakness and fatigue

MedlinePlus Genetics: 42 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) (Updated 08-Dec-2022)

UniProtKB/Swiss-Prot: 73 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.

Disease Ontology: 11 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.

Orphanet: 58 X-linked sideroblastic anemia is a constitutional microcytic, hypochromic anemia of varying severity that is clinically characterized by manifestations of anemia and iron overload and that may respond to treatment with pyridoxine and folic acid.

Wikipedia 75 Anemia, hereditary sideroblastic: Porphyria is a group of liver disorders in which substances called porphyrins build up in the body,... more...

X-linked sideroblastic anemia: 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
Anemia, Sideroblastic, 5 Autosomal Dominant Sideroblastic Anemia 4

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

(show top 50) (show all 191)
# Related Disease Score Top Affiliating Genes
1 sideroblastic anemia with b-cell immunodeficiency, periodic fevers, and developmental delay 32.6 SLC25A38 PUS1 GLRX5 ALAS2
2 atransferrinemia 32.3 TFRC TFR2 SLC40A1 HAMP
3 anemia, sideroblastic, and spinocerebellar ataxia 32.0 SLC25A38 SLC25A37 GLRX5 FECH ALAS2 ACO1
4 hypochromic microcytic anemia 31.7 TFRC SLC40A1 SLC25A38 HBB HAMP ALAS2
5 beta-thalassemia 31.7 TFRC TFR2 IREB2 HBB HAMP GATA1
6 x-linked protoporphyria 30.7 FECH ALAS2
7 iron deficiency anemia 30.7 TFRC TFR2 SLC40A1 IREB2 HAMP FECH
8 alpha-thalassemia 30.6 TFRC HBB HAMP GATA1
9 hemosiderosis 30.6 TFRC TFR2 SLC40A1 HAMP
10 pearson marrow-pancreas syndrome 30.5 SLC25A38 PUS1 GLRX5 ALAS2 ABCB7
11 acute erythroid leukemia 30.5 TFRC GATA1 FECH ALAS2
12 siderosis 30.5 TFRC SLC40A1 HAMP
13 iron overload 30.5 TFR2 SLC40A1 HAMP ALAS2
14 microcytic anemia 30.4 TFRC TFR2 SLC40A1 IREB2 HBB HAMP
15 friedreich ataxia 30.4 TFRC IREB2 GLRX5 FECH ACO1 ABCB7
16 erythroleukemia 30.3 TFRC HBB GATA1 FECH ALAS2
17 hemoglobinopathy 30.3 TFRC TFR2 HBB HAMP GATA1 ALAS2
18 hemoglobin h disease 30.2 TFRC HBB HAMP
19 thalassemia 30.2 TFRC TFR2 SLC40A1 HBB HAMP GATA1
20 sickle cell anemia 30.1 TFRC HBB HAMP GATA1
21 hemolytic anemia 30.0 UROS TFRC HBB HAMP GATA1
22 beta-thalassemia major 29.9 TFRC TFR2 SLC40A1 HBB HAMP GATA1
23 aceruloplasminemia 29.9 TFRC TFR2 SLC40A1 SLC25A37 IREB2 HAMP
24 iron metabolism disease 29.9 TFRC TFR2 SLC40A1 IREB2 HBB HAMP
25 aplastic anemia 29.9 TFRC SLC25A38 PUS1 GLRX5 GATA1 FECH
26 protoporphyria, erythropoietic, 1 29.7 UROS SLC25A38 SLC25A37 SLC25A28 IREB2 GLRX5
27 hemochromatosis, type 1 29.6 TFRC TFR2 SLC40A1 SLC25A37 SLC25A28 IREB2
28 porphyria 29.6 UROS TFRC TFR2 SLC40A1 HAMP GATA1
29 sideroblastic anemia 29.5 TFRC TFR2 SLC40A1 SLC25A38 SLC25A37 SLC25A28
30 deficiency anemia 29.0 TFRC TFR2 SLC40A1 SLC25A38 SLC25A37 SLC25A28
31 myopathy, lactic acidosis, and sideroblastic anemia 1 11.7
32 iron-refractory iron deficiency anemia 11.6
33 anemia, hypochromic microcytic, with iron overload 1 11.5
34 anemia, hypochromic microcytic, with iron overload 2 11.4
35 lysinuric protein intolerance 11.1
36 hydrops fetalis, nonimmune 11.1
37 autosomal recessive pyridoxine-refractory sideroblastic anemia 2 11.1
38 central nervous system calcification-deafness-tubular acidosis-anemia syndrome 11.1
39 benjamin syndrome 11.1
40 anemia, sideroblastic, 4 11.0
41 anemia, sideroblastic, 3, pyridoxine-refractory 11.0
42 anemia, sideroblastic, 5 11.0
43 diaphragmatic hernia, congenital 10.5
44 enterocele 10.5
45 hereditary ataxia 10.3
46 anemia of prematurity 10.3 TFRC HAMP
47 anemia, sideroblastic, 2, pyridoxine-refractory 10.3
48 autosomal dominant cerebellar ataxia 10.3
49 refractory anemia 10.3
50 hemochromatosis, type 2b 10.3 TFR2 HAMP

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 30 (show all 15)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 muscle weakness 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001324
2 fatigue 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0012378
3 anemia 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001903
4 pallor 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000980
5 abnormality of iron homeostasis 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0011031
6 splenomegaly 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001744
7 glucose intolerance 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001952
8 elevated hepatic transaminase 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002910
9 dyspnea 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002094
10 hyperpigmentation of the skin 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000953
11 hypochromic microcytic anemia 30 Very rare (1%) HP:0004840
12 asthenia 30 Very rare (1%) HP:0025406
13 anemic pallor 30 Very rare (1%) HP:0001017
14 sideroblastic anemia 30 Very rare (1%) HP:0001924
15 macrocytic anemia 30 HP:0001972

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
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 (Updated 08-Dec-2022)

GenomeRNAi Phenotypes related to Anemia, Sideroblastic, 1 according to GeneCards Suite gene sharing:

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 no effect GR00402-S-1 10.13 ABCB7 ACO1 ALAD ALAS1 ALAS2 FECH
2 no effect GR00402-S-2 10.13 ACO1 ALAS1 ALAS2 FECH GATA1 GLRX5

MGI Mouse Phenotypes related to Anemia, Sideroblastic, 1:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.31 ABCB7 ACO1 ALAD ALAS2 FECH GATA1
2 liver/biliary system MP:0005370 10.21 ABCB7 FECH GATA1 HAMP HBB IREB2
3 growth/size/body region MP:0005378 10.18 ABCB7 ALAD ALAS1 FECH GATA1 HAMP
4 immune system MP:0005387 10 ALAD FECH GATA1 HAMP HBB IREB2
5 hematopoietic system MP:0005397 10 ACO1 ALAD ALAS2 FECH GATA1 HAMP
6 embryo MP:0005380 9.97 ABCB7 ALAS1 ALAS2 FECH GATA1 SLC25A28
7 mortality/aging MP:0010768 9.8 ABCB7 ACO1 ALAD ALAS1 ALAS2 FECH
8 integument MP:0010771 9.28 ALAS2 FECH GATA1 HBB IREB2 SLC25A37

Drugs & Therapeutics for Anemia, Sideroblastic, 1

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

(show all 32)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Busulfan Approved, Investigational Phase 2 55-98-1 2478
2
Fludarabine Approved Phase 2 75607-67-9, 21679-14-1 30751 657237
3
Levoleucovorin Approved, Experimental, Investigational Phase 2 68538-85-2, 58-05-9, 73951-54-9 149436 6006
4
Methotrexate Approved Phase 2 1959-05-2, 59-05-2 4112 126941
5
Treosulfan Approved, Investigational Phase 2 299-75-2 9296
6
Tacrolimus Approved, Investigational Phase 2 104987-11-3 6473866 445643
7
Folic acid Approved, Nutraceutical, Vet_approved Phase 2 59-30-3 6037
8 Antirheumatic Agents Phase 2
9 Folic Acid Antagonists Phase 2
10 Immunoglobulins, Intravenous Phase 2
11 Folate Phase 2
12 Alkylating Agents Phase 2
13 Vitamin B9 Phase 2
14 Antineoplastic Agents, Alkylating Phase 2
15 Immunoglobulins Phase 2
16 Calcineurin Inhibitors Phase 2
17 Vitamin B Complex Phase 2
18 Antimetabolites Phase 2
19 Antilymphocyte Serum Phase 2
20 Thymoglobulin Phase 2
21 Antibodies Phase 2
22 Immunosuppressive Agents Phase 2
23 gamma-Globulins Phase 2
24 Dermatologic Agents Phase 2
25 Rho(D) Immune Globulin Phase 2
26 Immunologic Factors Phase 2
27
Iron Approved 7439-89-6 29936
28 Analgesics
29 Anti-Inflammatory Agents, Non-Steroidal
30 Analgesics, Non-Narcotic
31 Anti-Inflammatory Agents
32 Chrysarobin

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Hematopoietic Cell Transplantation Using Treosulfan-Based Conditioning for the Treatment of Bone Marrow Failure Diseases Recruiting NCT04965597 Phase 2 Treosulfan;Fludarabine Phosphate;Tacrolimus;Methotrexate
2 Red Cell Distribution Width Index Versus Red Cell Distribution Width as Discriminating Guide for Iron Deficiency Anaemia and Beta Thalassemia Trait . Unknown status NCT03868306

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 28

Anatomical Context for Anemia, Sideroblastic, 1

Organs/tissues related to Anemia, Sideroblastic, 1:

MalaCards : Bone Marrow, Liver, Bone, Spleen, Skin, Heart, Myeloid
ODiseA: Blood And Bone Marrow

Publications for Anemia, Sideroblastic, 1

Articles related to Anemia, Sideroblastic, 1:

(show top 50) (show all 1193)
# Title Authors PMID Year
1
Late-onset X-linked sideroblastic anemia following hemodialysis. 62 57 5
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. 62 57 5
10029606 1999
3
X-linked sideroblastic anemia: identification of the mutation in the erythroid-specific delta-aminolevulinate synthase gene (ALAS2) in the original family described by Cooley. 62 57 5
7949148 1994
4
Enzymatic defect in "X-linked" sideroblastic anemia: molecular evidence for erythroid delta-aminolevulinate synthase deficiency. 62 57 5
1570328 1992
5
X-linked sideroblastic anemia associated with a novel ALAS2 mutation and unfortunate skewed X-chromosome inactivation patterns. 62 57
16735131 2006
6
Crystal structure of 5-aminolevulinate synthase, the first enzyme of heme biosynthesis, and its link to XLSA in humans. 62 5
16121195 2005
7
A promoter mutation in the erythroid-specific 5-aminolevulinate synthase (ALAS2) gene causes X-linked sideroblastic anemia. 62 5
12663458 2003
8
The genetics of inherited sideroblastic anemias. 62 57
12382202 2002
9
A novel mutation in exon 5 of the ALAS2 gene results in X-linked sideroblastic anemia. 62 5
12031592 2002
10
Familial-skewed X-chromosome inactivation as a predisposing factor for late-onset X-linked sideroblastic anemia in carrier females. 62 5
11110715 2000
11
A novel mutation of the erythroid-specific delta-aminolaevulinate synthase gene in a patient with X-linked sideroblastic anaemia. 62 5
10444183 1999
12
R411C mutation of the ALAS2 gene encodes a pyridoxine-responsive enzyme with low activity. 62 5
9858242 1998
13
Positional cloning of the zebrafish sauternes gene: a model for congenital sideroblastic anaemia. 62 57
9806542 1998
14
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. 62 57
7560104 1995
15
A new mutation of the ALAS2 gene in a large family with X-linked sideroblastic anemia. 62 5
7705839 1995
16
X-linked pyridoxine-responsive sideroblastic anemia due to a Thr388-to-Ser substitution in erythroid 5-aminolevulinate synthase. 62 5
8107717 1994
17
A family study of congenital X linked sideroblastic anaemia. 62 57
2308152 1990
18
Hereditary sideroblastic anemia with associated platelet abnormalities. 62 57
2816925 1989
19
Hereditary sideroblastic anemia and glucose-6-phosphate dehydrogenase deficiency in a Negro family. 62 57
4871209 1968
20
Hereditary iron-loading anemia with secondary hemochromatosis. 62 57
13689579 1961
21
Hereditary hypochromic anemia with transfusion hemosiderosis treated with pyridoxine: report of a case. 62 57
13801004 1959
22
A novel heterozygous ALAS2 mutation in a female with macrocytic sideroblastic anemia resembling myelodysplastic syndrome with ring sideroblasts: a case report and literature review. 5
28840292 2017
23
Allogeneic peripheral stem cell transplantation in a case of hereditary sideroblastic anaemia. 57
10886220 2000
24
X-linked Wiskott-Aldrich syndrome in a girl. 57
9634367 1998
25
Hereditary sideroblastic anaemia due to a mutation in exon 10 of the erythroid 5-aminolaevulinate synthase gene. 5
9488633 1998
26
X inactivation in females with X-linked disease. 57
9445416 1998
27
Nonrandom X-inactivation patterns in normal females: lyonization ratios vary with age. 57
8704202 1996
28
Iron overload in mild sideroblastic anaemias. 57
6130377 1983
29
On the Xq13 breakpoint: clinical and cytogenetic observations in a patient with acute myelogenous leukemia. 57
6408876 1983
30
Three patients with structurally abnormal X chromosomes, each with Xq13 breakpoints and a history of idiopathic acquired sideroblastic anemia. 57
7053756 1982
31
Daily requirement for pyridoxine supplements in chronic renal failure. 57
7289398 1981
32
delta-Aminolevulinic acid synthetase in erythroblasts of patients with pyridoxine-responsive anemia. Hypercatabolism caused by the increased susceptibility to the controlling protease. 57
500806 1979
33
Negative control of hemoglobin production in somatic cell hybrids due to heme deficiency. 57
279921 1978
34
Aminolevulinic acid synthetase activity in erythroblasts of patients with primary sideroblastic anemia. 57
4738994 1973
35
Familial sideroblastic anaemia: problem of Xg and X chromosome inactivation. 57
4195979 1970
36
Hereditary, X-linked, sideroachrestic anemia. The isolation of two erythrocyte populations differing in Xga blood type and porphyrin content. 57
5658391 1968
37
Pyridoxine-responsive hypolipidemia and hypocholesterolemia in a patient with pyridoxine-responsive anemia. 57
17926884 1966
38
Pyridoxine-responsive anaemia determined by an X-linked gene. 57
5911826 1966
39
HEREDITARY SIDEROBLASTIC ANAEMIA. 57
14247476 1965
40
PYRIDOXINE-RESPONSIVE ANEMIA: ANALYSIS OF 62 CASES. 57
14268276 1964
41
PYRIDOXINE-RESPONSIVE ANEMIA--PROTOTYPE AND VARIATIONS ON THE THEME. 57
14284127 1964
42
Pyridoxine responsive anemia. 57
13868972 1962
43
Hereditary (sex-linked?) anemia. 57
20992689 1946
44
Systematic molecular genetic analysis of congenital sideroblastic anemia: evidence for genetic heterogeneity and identification of novel mutations. 53 62
19731322 2010
45
Candidate gene mutation analysis in idiopathic acquired sideroblastic anemia (refractory anemia with ringed sideroblasts). 53 62
16870250 2007
46
[Hereditary sideroblastic anemia: a rare diagnosis]. 53 62
15217771 2004
47
Ajwa dates (Phoenix dactylifera L.) attenuate cisplatin-induced nephrotoxicity in rats via augmenting Nrf2, modulating NADPH oxidase-4 and mitigating inflammatory/apoptotic mediators. 62
36242846 2022
48
A novel ENU-induced Cpox mutation causes microcytic hypochromic anemia in mice. 62
35527013 2022
49
Distinct adverse outcomes and lipid profiles of erythrocytes upon single and combined exposure to cadmium and microplastics. 62
35961459 2022
50
A fatal primary gastric melanoma treated by a double immunotherapy with ipilimumab/nivolumab: description of a case report. 62
36388646 2022

Variations for Anemia, Sideroblastic, 1

ClinVar genetic disease variations for Anemia, Sideroblastic, 1:

5 (show top 50) (show all 71)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ALAS2 NM_000032.5(ALAS2):c.508C>A (p.Arg170Ser) SNV Pathogenic
440879 rs1557248142 GRCh37: X:55047615-55047615
GRCh38: X:55021182-55021182
2 ALAS2 NM_000032.5(ALAS2):c.488G>A (p.Arg163His) SNV Pathogenic
1065640 GRCh37: X:55047635-55047635
GRCh38: X:55021202-55021202
3 ALAS2 NM_000032.5(ALAS2):c.1354C>T (p.Arg452Cys) SNV Pathogenic
10485 rs137852311 GRCh37: X:55041263-55041263
GRCh38: X:55014830-55014830
4 ALAS2 NM_000032.5(ALAS2):c.595T>C (p.Tyr199His) SNV Pathogenic
10484 rs137852310 GRCh37: X:55047528-55047528
GRCh38: X:55021095-55021095
5 ALAS2 NM_000032.5(ALAS2):c.1570C>G (p.His524Asp) SNV Pathogenic
10481 rs137852309 GRCh37: X:55039949-55039949
GRCh38: X:55013516-55013516
6 ALAS2 NM_000032.5(ALAS2):c.475G>A (p.Asp159Asn) SNV Pathogenic
10479 rs137852308 GRCh37: X:55047648-55047648
GRCh38: X:55021215-55021215
7 ALAS2 NM_000032.5(ALAS2):c.475G>T (p.Asp159Tyr) SNV Pathogenic
10478 rs137852308 GRCh37: X:55047648-55047648
GRCh38: X:55021215-55021215
8 ALAS2 NM_000032.5(ALAS2):c.1184G>A (p.Cys395Tyr) SNV Pathogenic
10477 rs137852307 GRCh37: X:55041433-55041433
GRCh38: X:55015000-55015000
9 ALAS2 NM_000032.5(ALAS2):c.1702A>G (p.Ser568Gly) SNV Pathogenic
10476 rs137852306 GRCh37: X:55035675-55035675
GRCh38: X:55009242-55009242
10 ALAS2 NM_000032.5(ALAS2):c.1231C>T (p.Arg411Cys) SNV Pathogenic
10475 rs137852305 GRCh37: X:55041386-55041386
GRCh38: X:55014953-55014953
11 ALAS2 NM_000032.5(ALAS2):c.871G>A (p.Gly291Ser) SNV Pathogenic
10471 rs137852302 GRCh37: X:55044051-55044051
GRCh38: X:55017618-55017618
12 ALAS2 NM_000032.5(ALAS2):c.1163C>G (p.Thr388Ser) SNV Pathogenic
10469 rs137852300 GRCh37: X:55042016-55042016
GRCh38: X:55015583-55015583
13 ALAS2 NM_000032.5(ALAS2):c.1427T>A (p.Ile476Asn) SNV Pathogenic
10468 rs137852299 GRCh37: X:55041190-55041190
GRCh38: X:55014757-55014757
14 ALAS2 NM_000032.5(ALAS2):c.495C>A (p.Phe165Leu) SNV Pathogenic
10470 rs137852301 GRCh37: X:55047628-55047628
GRCh38: X:55021195-55021195
15 ALAS2, PAGE2B NM_000032.4(ALAS2):c.-258C>G SNV Pathogenic
10480 rs140772352 GRCh37: X:55057617-55057617
GRCh38: X:55031184-55031184
16 ALAS2 NM_000032.5(ALAS2):c.1571A>G (p.His524Arg) SNV Likely Pathogenic
992940 GRCh37: X:55039948-55039948
GRCh38: X:55013515-55013515
17 ALAS2 NM_000032.5(ALAS2):c.514G>A (p.Ala172Thr) SNV Likely Pathogenic
10473 rs137852304 GRCh37: X:55047609-55047609
GRCh38: X:55021176-55021176
18 ALAS2 NM_000032.5(ALAS2):c.1382T>A (p.Leu461His) SNV Likely Pathogenic
978811 rs1935671225 GRCh37: X:55041235-55041235
GRCh38: X:55014802-55014802
19 ALAS2, LOC108663984 NM_000032.5(ALAS2):c.110G>A (p.Arg37His) SNV Uncertain Significance
913558 rs756790340 GRCh37: X:55052324-55052324
GRCh38: X:55025891-55025891
20 ALAS2, LOC108663984, PAGE2B NM_000032.5(ALAS2):c.-16+6A>G SNV Uncertain Significance
913559 rs1935989193 GRCh37: X:55057369-55057369
GRCh38: X:55030936-55030936
21 ALAS2 NM_000032.5(ALAS2):c.1638C>G (p.Pro546=) SNV Uncertain Significance
913904 rs763266087 GRCh37: X:55035739-55035739
GRCh38: X:55009306-55009306
22 ALAS2 NM_000032.5(ALAS2):c.1532G>A (p.Arg511Gln) SNV Uncertain Significance
915147 rs372675935 GRCh37: X:55039987-55039987
GRCh38: X:55013554-55013554
23 ALAS2 NM_000032.5(ALAS2):c.1500T>C (p.Tyr500=) SNV Uncertain Significance
915148 rs1602244633 GRCh37: X:55040019-55040019
GRCh38: X:55013586-55013586
24 ALAS2 NM_000032.5(ALAS2):c.1458C>T (p.Asn486=) SNV Uncertain Significance
915149 rs772107960 GRCh37: X:55040061-55040061
GRCh38: X:55013628-55013628
25 ALAS2 NM_000032.5(ALAS2):c.741C>T (p.His247=) SNV Uncertain Significance
368597 rs1057515971 GRCh37: X:55046835-55046835
GRCh38: X:55020402-55020402
26 SLC25A38 NM_017875.4(SLC25A38):c.-227G>A SNV Uncertain Significance
345137 rs886058468 GRCh37: 3:39424989-39424989
GRCh38: 3:39383498-39383498
27 SLC25A38 NM_017875.4(SLC25A38):c.*490G>A SNV Uncertain Significance
345158 rs150889211 GRCh37: 3:39438501-39438501
GRCh38: 3:39397010-39397010
28 SLC25A38 NM_017875.4(SLC25A38):c.-219T>C SNV Uncertain Significance
345139 rs886058469 GRCh37: 3:39424997-39424997
GRCh38: 3:39383506-39383506
29 ALAS2 NM_000032.5(ALAS2):c.1335C>T (p.Ala445=) SNV Uncertain Significance
368593 rs765603040 GRCh37: X:55041282-55041282
GRCh38: X:55014849-55014849
30 SLC25A38 NM_017875.4(SLC25A38):c.-237G>A SNV Uncertain Significance
345136 rs527536267 GRCh37: 3:39424979-39424979
GRCh38: 3:39383488-39383488
31 SLC25A38 NM_017875.4(SLC25A38):c.-292G>A SNV Uncertain Significance
345135 rs142441701 GRCh37: 3:39424924-39424924
GRCh38: 3:39383433-39383433
32 SLC25A38 NM_017875.4(SLC25A38):c.-325G>C SNV Uncertain Significance
345133 rs886058467 GRCh37: 3:39424891-39424891
GRCh38: 3:39383400-39383400
33 SLC25A38 NM_017875.4(SLC25A38):c.*304C>T SNV Uncertain Significance
345152 rs113251543 GRCh37: 3:39438315-39438315
GRCh38: 3:39396824-39396824
34 SLC25A38 NM_017875.4(SLC25A38):c.446C>T (p.Thr149Met) SNV Uncertain Significance
345148 rs143865753 GRCh37: 3:39433101-39433101
GRCh38: 3:39391610-39391610
35 SLC25A38 NM_017875.4(SLC25A38):c.-225G>A SNV Uncertain Significance
345138 rs370977005 GRCh37: 3:39424991-39424991
GRCh38: 3:39383500-39383500
36 SLC25A38 NM_017875.4(SLC25A38):c.161G>A (p.Arg54His) SNV Uncertain Significance
345144 rs144319567 GRCh37: 3:39431077-39431077
GRCh38: 3:39389586-39389586
37 ALAS2 NM_000032.5(ALAS2):c.652C>T (p.Arg218Cys) SNV Uncertain Significance
368599 rs754772558 GRCh37: X:55046924-55046924
GRCh38: X:55020491-55020491
38 SLC25A38 NM_017875.4(SLC25A38):c.-69C>T SNV Uncertain Significance
345142 rs886058470 GRCh37: 3:39425147-39425147
GRCh38: 3:39383656-39383656
39 SLC25A38 NM_017875.4(SLC25A38):c.12C>T (p.Asn4=) SNV Uncertain Significance
345143 rs142420345 GRCh37: 3:39425227-39425227
GRCh38: 3:39383736-39383736
40 SLC25A38 NM_017875.4(SLC25A38):c.462G>A (p.Gly154=) SNV Uncertain Significance
345149 rs369980078 GRCh37: 3:39433349-39433349
GRCh38: 3:39391858-39391858
41 ALAS2 NM_000032.5(ALAS2):c.416-11T>C SNV Uncertain Significance
368600 rs977637650 GRCh37: X:55047718-55047718
GRCh38: X:55021285-55021285
42 ALAS2 NM_000032.5(ALAS2):c.661G>A (p.Ala221Thr) SNV Uncertain Significance
368598 rs753156183 GRCh37: X:55046915-55046915
GRCh38: X:55020482-55020482
43 ALAS2 NM_000032.5(ALAS2):c.1244C>T (p.Ala415Val) SNV Uncertain Significance
1702971 GRCh37: X:55041373-55041373
GRCh38: X:55014940-55014940
44 ALAS2 NM_000032.5(ALAS2):c.1757A>T (p.Tyr586Phe) SNV Uncertain Significance
40978 rs139596860 GRCh37: X:55035620-55035620
GRCh38: X:55009187-55009187
45 ALAS2 NM_000032.5(ALAS2):c.1007C>A (p.Ala336Asp) SNV Uncertain Significance
1299193 GRCh37: X:55042172-55042172
GRCh38: X:55015739-55015739
46 SLC25A38 NM_017875.4(SLC25A38):c.239C>G (p.Thr80Arg) SNV Uncertain Significance
345145 rs144149294 GRCh37: 3:39431961-39431961
GRCh38: 3:39390470-39390470
47 ALAS2 NM_000032.5(ALAS2):c.1718C>T (p.Ser573Phe) SNV Likely Benign
214091 rs201799139 GRCh37: X:55035659-55035659
GRCh38: X:55009226-55009226
48 ALAS2 NM_000032.5(ALAS2):c.653G>A (p.Arg218His) SNV Likely Benign
1206683 GRCh37: X:55046923-55046923
GRCh38: X:55020490-55020490
49 SLC25A38 NM_017875.4(SLC25A38):c.382A>G (p.Met128Val) SNV Likely Benign
345147 rs146940902 GRCh37: 3:39433037-39433037
GRCh38: 3:39391546-39391546
50 ALAS2 NM_000032.5(ALAS2):c.1676G>A (p.Arg559His) SNV Likely Benign
214090 rs145704441 GRCh37: X:55035701-55035701
GRCh38: X:55009268-55009268

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

73 (show all 24)
# 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 rs1338391423
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.Arg572His VAR_066243
21 ALAS2 p.Phe165Leu VAR_072328 rs137852301
22 ALAS2 p.Arg170Cys VAR_072329
23 ALAS2 p.Val301Ala VAR_072330
24 ALAS2 p.Arg517Gly VAR_072331

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

6
# CNVD ID Chromosome Start End Type Gene Symbol CNVD Disease
1 264550 X 67700000 76000000 Copy number ABCB7 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

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.54 UROS SLC25A37 SLC25A28 GLRX5 FECH ALAS2
2
Show member pathways
13.08 TFRC TFR2 SLC40A1 IREB2 HBB ACO1
3
Show member pathways
11.79 TFRC TFR2 SLC40A1 IREB2 ACO1
4
Show member pathways
11.41 UROS FECH ALAS2 ALAS1 ALAD
5 11.35 TFRC SLC40A1 IREB2
6 11.29 TFRC SLC40A1 HAMP
7
Show member pathways
10.58 SLC25A37 SLC25A28 GLRX5
8 9.83 TFR2 SLC40A1 IREB2 ACO1

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 matrix GO:0005759 9.96 PUS1 GLRX5 FECH ALAS2 ALAS1
2 mitochondrial inner membrane GO:0005743 9.8 ABCB7 ALAS1 ALAS2 FECH SLC25A28 SLC25A37
3 mitochondrion GO:0005739 9.72 UROS TFRC SLC25A38 SLC25A37 SLC25A28 PUS1
4 HFE-transferrin receptor complex GO:1990712 9.46 TFRC TFR2

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

(show all 20)
# Name GO ID Score Top Affiliating Genes
1 erythrocyte differentiation GO:0030218 10.08 SLC25A38 GATA1 FECH ALAS2
2 acute-phase response GO:0006953 10.01 TFRC TFR2 HAMP
3 erythrocyte development GO:0048821 10 GATA1 ALAS2 ALAS1
4 response to iron ion GO:0010039 9.97 ALAD HAMP TFR2 TFRC
5 protoporphyrinogen IX biosynthetic process GO:0006782 9.96 UROS IREB2 ALAS2 ALAS1 ALAD
6 iron ion transport GO:0006826 9.95 TFRC TFR2 SLC40A1 IREB2
7 iron ion transmembrane transport GO:0034755 9.93 SLC40A1 HAMP ABCB7
8 heme biosynthetic process GO:0006783 9.93 UROS SLC25A38 FECH ALAS2 ALAS1 ALAD
9 intestinal absorption GO:0050892 9.89 IREB2 ACO1
10 transferrin transport GO:0033572 9.88 TFRC TFR2
11 multicellular organismal iron ion homeostasis GO:0060586 9.88 SLC40A1 HAMP
12 hemoglobin biosynthetic process GO:0042541 9.87 ALAS2 ALAS1
13 cellular iron ion homeostasis GO:0006879 9.86 ABCB7 ACO1 ALAS2 HAMP IREB2 SLC40A1
14 citrate metabolic process GO:0006101 9.85 IREB2 ACO1
15 iron import into the mitochondrion GO:0048250 9.81 SLC25A28 SLC25A37
16 response to platinum ion GO:0070541 9.8 ALAD UROS
17 tetrapyrrole biosynthetic process GO:0033014 9.62 UROS ALAS2 ALAS1 ALAD
18 porphyrin-containing compound biosynthetic process GO:0006779 9.61 UROS FECH ALAD
19 porphyrin-containing compound metabolic process GO:0006778 9.56 ALAS2 ALAS1
20 iron ion homeostasis GO:0055072 9.55 TFR2 SLC40A1 SLC25A37 SLC25A28 IREB2 HAMP

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

# Name GO ID Score Top Affiliating Genes
1 aconitate hydratase activity GO:0003994 9.71 IREB2 ACO1
2 lyase activity GO:0016829 9.67 UROS FECH ALAD ACO1
3 transferrin receptor activity GO:0004998 9.62 TFRC TFR2
4 iron ion transmembrane transporter activity GO:0005381 9.61 SLC40A1 SLC25A37
5 5-aminolevulinate synthase activity GO:0003870 9.56 ALAS2 ALAS1
6 iron-sulfur cluster binding GO:0051536 9.46 IREB2 GLRX5 FECH ACO1
7 ferrous iron transmembrane transporter activity GO:0015093 9.43 SLC40A1 SLC25A37 SLC25A28
8 iron-responsive element binding GO:0030350 9.1 IREB2 FECH ACO1

Sources for Anemia, Sideroblastic, 1

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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