MCID: ANM036
MIFTS: 55

Anemia, Sideroblastic, 1

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

Aliases & Classifications for Anemia, Sideroblastic, 1

MalaCards integrated aliases for Anemia, Sideroblastic, 1:

Name: Anemia, Sideroblastic, 1 57 75
X-Linked Sideroblastic Anemia 12 76 53 25 59 15
Xlsa 57 12 53 25 59 75
Hereditary Sideroblastic Anemia 75 29 6 73
Hereditary Iron-Loading Anemia 57 53 25 75
Hypochromic Anemia 12 75 15 73
Anh1 57 53 25 75
Anemia, Sideroblastic, X-Linked 57 75 13
Erythroid 5-Aminolevulinate Synthase Deficiency 53 25
X Chromosome-Linked Sideroblastic Anemia 53 25
Anemia, Hereditary Sideroblastic 57 25
Anemia, Hypochromic 57 44
Anemia Hypochromic 12 55
Sidba1 57 75
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
Anemia, Sideroblastic, Hereditary 40
Congenital Sideroblastic Anaemia 25
Anemia, Sideroblastic, Type 1 ) 40
Anemia Hereditary Sideroblastic 53
Congenital Sideroblastic Anemia 53
Anemia Congenital Sideroblastic 55
Sideroblastic Anemia X-Linked 53
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:

OMIM 57 300751
Disease Ontology 12 DOID:0060063 DOID:11759
ICD10 33 D50 D64.0
NCIt 50 C34380
SNOMED-CT 68 44452003
Orphanet 59 ORPHA75563
MESH via Orphanet 45 C536761
ICD10 via Orphanet 34 D64.0
MedGen 42 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 x-linked sideroblastic anemia, 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 Metabolism and Porphyrin and chlorophyll metabolism. The drugs Iron and Anti-Infective Agents have been mentioned in the context of this disorder. Affiliated tissues include bone, bone marrow and skin, and related phenotypes are glucose intolerance and hyperpigmentation of the skin

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 : 75 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.

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.

Wikipedia : 76 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 Sideroblastic Anemia Acquired
Autosomal Recessive Sideroblastic Anemia

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

(show all 41)
# Related Disease Score Top Affiliating Genes
1 anemia, sideroblastic, and spinocerebellar ataxia 32.6 ABCB7 ACO1
2 beta-thalassemia 31.7 HAMP HBB TFRC
3 atransferrinemia 30.7 ABCB7 ALAS2 HAMP TET2 TFRC
4 sideroblastic anemia 30.3 ABCB7 ALAS1 ALAS2
5 anemia, hypochromic microcytic, with iron overload 1 12.5
6 anemia, hypochromic microcytic, with iron overload 2 12.4
7 hypochromic microcytic anemia 11.8
8 iron-refractory iron deficiency anemia 11.3
9 sideroblastic anemia with b-cell immunodeficiency, periodic fevers, and developmental delay 11.1
10 anemia, sideroblastic, 4 10.9
11 anemia, sideroblastic, 3, pyridoxine-refractory 10.9
12 anemia, sideroblastic, pyridoxine-responsive, autosomal recessive 10.4
13 refractory anemia 10.3 ALAS2 TET2
14 metal metabolism disorder 10.3 HAMP TFRC
15 folic acid deficiency anemia 10.3 TET2 TFRC
16 x-linked protoporphyria 10.3 ALAS2 FECH
17 hemosiderosis 10.3 HAMP TFRC
18 nutritional deficiency disease 10.2 HAMP TFRC
19 splenic sequestration 10.2 ALAD HBB
20 siderosis 10.1 HBB TFRC
21 autosomal recessive sideroblastic anemia 10.0
22 iron deficiency anemia 10.0 HAMP TFRC
23 hemoglobin h disease 10.0 HBB TFRC
24 cutaneous porphyria 9.9 FECH UROS
25 hemoglobinopathy 9.9 HAMP HBB
26 pyridoxine-responsive sideroblastic anemia 9.9 ALAS2 HBB TET2
27 immune system disease 9.8 HAMP HBB TFRC
28 ehrlichiosis 9.8 ACO1 TFRC
29 microcytic anemia 9.6 ACO1 ALAS2 TFRC
30 deficiency anemia 9.6 ALAS2 HAMP HBB TFRC
31 friedreich ataxia 1 9.6 ABCB7 ACO1 TFRC
32 porphyria, congenital erythropoietic 9.5 ALAD FECH UROS
33 porphyria variegata 9.5 ALAD FECH UROS
34 inherited metabolic disorder 9.4 FECH HAMP
35 protoporphyria, erythropoietic 9.2 ALAD ALAS2 FECH UROS
36 porphyria, acute intermittent 9.2 ALAD ALAS1 FECH UROS
37 hemochromatosis, type 1 8.9 ACO1 HAMP HBB TFRC
38 acute porphyria 8.8 ALAD ALAS1 ALAS2 FECH UROS
39 coproporphyria, hereditary 8.8 ALAD ALAS1 ALAS2 FECH UROS
40 porphyria 8.8 ALAD ALAS1 ALAS2 FECH UROS
41 porphyria cutanea tarda 8.3 ALAD ALAS1 FECH HAMP TFRC UROS

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



Diseases related to Anemia, Sideroblastic, 1

Symptoms & Phenotypes for Anemia, Sideroblastic, 1

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

Human phenotypes related to Anemia, Sideroblastic, 1:

59 32 (show all 13)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 glucose intolerance 59 32 occasional (7.5%) Occasional (29-5%) HP:0000833
2 hyperpigmentation of the skin 59 32 occasional (7.5%) Occasional (29-5%) HP:0000953
3 pallor 59 32 hallmark (90%) Very frequent (99-80%) HP:0000980
4 muscle weakness 59 32 hallmark (90%) Very frequent (99-80%) HP:0001324
5 splenomegaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0001744
6 anemia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001903
7 dyspnea 59 32 occasional (7.5%) Occasional (29-5%) HP:0002094
8 elevated hepatic transaminases 59 32 occasional (7.5%) Occasional (29-5%) HP:0002910
9 abnormality of iron homeostasis 59 32 hallmark (90%) Very frequent (99-80%) HP:0011031
10 fatigue 59 32 hallmark (90%) Very frequent (99-80%) HP:0012378
11 sideroblastic anemia 32 HP:0001924
12 macrocytic anemia 32 HP:0001972
13 hypochromic microcytic anemia 32 HP:0004840

MGI Mouse Phenotypes related to Anemia, Sideroblastic, 1:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 liver/biliary system MP:0005370 9.35 ABCB7 FECH TET2 TFRC UROS
2 mortality/aging MP:0010768 9.23 ABCB7 ACO1 ALAS1 ALAS2 FECH TET2

Drugs & Therapeutics for Anemia, Sideroblastic, 1

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


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Iron Approved Phase 4 7439-89-6 23925
2 Anti-Infective Agents Phase 4
3 Lactoferrin Phase 4
4 Iron Supplement Nutraceutical Phase 4
5 Pharmaceutical Solutions Not Applicable

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Bovine Lactoferrin Versus Ferrous Sulphate In The Treatment Of Iron Deficiency Anemia During Pregnancy Recruiting NCT03202615 Phase 4 F (ferrous sulphate)
2 Dry Eye Evaluation After Transepithelial PRK Completed NCT02210793 Not Applicable

Search NIH Clinical Center for Anemia, Sideroblastic, 1

Inferred drug relations via UMLS 73 / NDF-RT 51 :


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, Myeloid, Spleen, Heart

Publications for Anemia, Sideroblastic, 1

Articles related to Anemia, Sideroblastic, 1:

(show all 41)
# Title Authors Year
1
Establishment of a cell model of X-linked sideroblastic anemia using genome editing. ( 29908199 )
2018
2
Mutation Analysis of X-linked Sideroblastic Anemia in a 12-Month-Old Boy by Massively Parallel Sequencing. ( 29611395 )
2018
3
A defined culture method enabling the establishment of ring sideroblasts from induced pluripotent cells of X-linked sideroblastic anemia. ( 29419427 )
2018
4
A Novel ALAS2 Mutation Resulting in Variable Phenotypes and Pyridoxine Response in a Family with X-linked Sideroblastic Anemia. ( 28667034 )
2017
5
X-linked Sideroblastic Anemia in a Malay Boy With ALAS2 S568G Mutation. ( 28644307 )
2017
6
A Japanese family with X-linked sideroblastic anemia affecting females and manifesting as macrocytic anemia. ( 26862056 )
2016
7
A recurring mutation in the respiratory complex 1 protein NDUFB11 is responsible for a novel form of X-linked sideroblastic anemia. ( 27488349 )
2016
8
A novel hemizygous I418S mutation in the ALAS2 gene in a young Korean man with X-linked sideroblastic anemia. ( 24624355 )
2014
9
X-linked sideroblastic anemia due to ALAS2 intron 1 enhancer element GATA-binding site mutations. ( 24166784 )
2013
10
X-linked sideroblastic anemia due to carboxyl-terminal ALAS2 mutations that cause loss of binding to the I^-subunit of succinyl-CoA synthetase (SUCLA2). ( 22740690 )
2012
11
X-linked sideroblastic anemia and ataxia: A new family with identification of a fourth ABCB7 gene mutation. ( 22398176 )
2012
12
New mutation in erythroid-specific delta-aminolevulinate synthase as the cause of X-linked sideroblastic anemia responsive to pyridoxine. ( 21252495 )
2011
13
Abcb7, the gene responsible for X-linked sideroblastic anemia with ataxia, is essential for hematopoiesis. ( 17192398 )
2007
14
X-linked sideroblastic anemia associated with a novel ALAS2 mutation and unfortunate skewed X-chromosome inactivation patterns. ( 16735131 )
2006
15
[Construction of recombinant vector expressing ALAS2 gene in X-linked sideroblastic anemia]. ( 15498136 )
2004
16
Iron overload due to X-linked sideroblastic anemia in an African American man. ( 15047047 )
2004
17
Onset of X-linked sideroblastic anemia in the fourth decade. ( 15477213 )
2004
18
Late-onset X-linked sideroblastic anemia following hemodialysis. ( 12531813 )
2003
19
A promoter mutation in the erythroid-specific 5-aminolevulinate synthase (ALAS2) gene causes X-linked sideroblastic anemia. ( 12663458 )
2003
20
A novel mutation in exon 5 of the ALAS2 gene results in X-linked sideroblastic anemia. ( 12031592 )
2002
21
Absent phenotypic expression of X-linked sideroblastic anemia in one of 2 brothers with a novel ALAS2 mutation. ( 12393718 )
2002
22
X chromosome inactivation ratios in female carriers of X-linked sideroblastic anemia. ( 11405213 )
2001
23
[A novel mutation of the ALAS2 gene in a family with X-linked sideroblastic anemia]. ( 11877024 )
2000
24
Human ABC7 transporter: gene structure and mutation causing X-linked sideroblastic anemia with ataxia with disruption of cytosolic iron- sulfur protein maturation. ( 11050011 )
2000
25
Animal models for X-linked sideroblastic anemia. ( 11039663 )
2000
26
Familial-skewed X-chromosome inactivation as a predisposing factor for late-onset X-linked sideroblastic anemia in carrier females. ( 11110715 )
2000
27
Four new mutations in the erythroid-specific 5-aminolevulinate synthase (ALAS2) gene causing X-linked sideroblastic anemia: increased pyridoxine responsiveness after removal of iron overload by phlebotomy and coinheritance of hereditary hemochromatosis. ( 10029606 )
1999
28
Mutation of a putative mitochondrial iron transporter gene (ABC7) in X-linked sideroblastic anemia and ataxia (XLSA/A). ( 10196363 )
1999
29
[X-linked sideroblastic anemia]. ( 10483144 )
1999
30
Cloning and chromosomal mapping of a novel ABC transporter gene (hABC7), a candidate for X-linked sideroblastic anemia with spinocerebellar ataxia. ( 9621516 )
1998
31
Pyridoxine refractory X-linked sideroblastic anemia caused by a point mutation in the erythroid 5-aminolevulinate synthase gene. ( 9226183 )
1997
32
Molecular defects of erythroid 5-aminolevulinate synthase in X-linked sideroblastic anemia. ( 7592563 )
1995
33
Late-onset X-linked sideroblastic anemia. Missense mutations in the erythroid delta-aminolevulinate synthase (ALAS2) gene in two pyridoxine-responsive patients initially diagnosed with acquired refractory anemia and ringed sideroblasts. ( 7560104 )
1995
34
A new mutation of the ALAS2 gene in a large family with X-linked sideroblastic anemia. ( 7705839 )
1995
35
X-linked sideroblastic anemia: identification of the mutation in the erythroid-specific delta-aminolevulinate synthase gene (ALAS2) in the original family described by Cooley. ( 7949148 )
1994
36
X-Linked Sideroblastic Anemia and Ataxia ( 20301496 )
1993
37
Erythroid 5-aminolevulinate synthase and X-linked sideroblastic anemia. ( 8089650 )
1993
38
Enzymatic defect in 'X-linked' sideroblastic anemia: molecular evidence for erythroid delta-aminolevulinate synthase deficiency. ( 1570328 )
1992
39
Identification of a highly polymorphic marker within intron 7 of the ALAS2 gene and suggestion of at least two loci for X-linked sideroblastic anemia. ( 1301172 )
1992
40
X-linked sideroblastic anemia and ataxia: linkage to phosphoglycerate kinase at Xq13. ( 1671320 )
1991
41
5-Aminolevulinate synthase is at 3p21 and thus not the primary defect in X-linked sideroblastic anemia. ( 3414687 )
1988

Variations for Anemia, Sideroblastic, 1

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

75 (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
6 ALAS2 p.Arg448Gln VAR_012336
7 ALAS2 p.Arg452Cys VAR_012337 rs137852311
8 ALAS2 p.Asp159Tyr VAR_018604 rs137852308
9 ALAS2 p.Arg560His VAR_018605 rs892041887
10 ALAS2 p.Lys156Glu VAR_066232
11 ALAS2 p.Arg170His VAR_066233
12 ALAS2 p.Arg218His VAR_066234 rs185504937
13 ALAS2 p.Glu242Lys VAR_066235
14 ALAS2 p.Asp263Asn VAR_066236
15 ALAS2 p.Pro339Leu VAR_066237
16 ALAS2 p.Arg375Cys VAR_066238
17 ALAS2 p.Arg411His VAR_066239
18 ALAS2 p.Arg452Gly VAR_066240
19 ALAS2 p.Arg452His VAR_066241 rs863223904
20 ALAS2 p.Pro520Leu VAR_066242 rs201062903
21 ALAS2 p.Arg572His VAR_066243
22 ALAS2 p.Phe165Leu VAR_072328 rs137852301
23 ALAS2 p.Arg170Cys VAR_072329
24 ALAS2 p.Val301Ala VAR_072330
25 ALAS2 p.Arg517Gly VAR_072331

ClinVar genetic disease variations for Anemia, Sideroblastic, 1:

6
(show top 50) (show all 92)
# Gene Variation Type Significance SNP ID Assembly Location
1 ALAS2 NM_000032.4(ALAS2): c.1427T> A (p.Ile476Asn) single nucleotide variant Pathogenic rs137852299 GRCh37 Chromosome X, 55041190: 55041190
2 ALAS2 NM_000032.4(ALAS2): c.1427T> A (p.Ile476Asn) single nucleotide variant Pathogenic rs137852299 GRCh38 Chromosome X, 55014757: 55014757
3 ALAS2 NM_000032.4(ALAS2): c.1163C> G (p.Thr388Ser) single nucleotide variant Pathogenic rs137852300 GRCh37 Chromosome X, 55042016: 55042016
4 ALAS2 NM_000032.4(ALAS2): c.1163C> G (p.Thr388Ser) single nucleotide variant Pathogenic rs137852300 GRCh38 Chromosome X, 55015583: 55015583
5 ALAS2 NM_000032.4(ALAS2): c.495C> A (p.Phe165Leu) single nucleotide variant Pathogenic rs137852301 GRCh37 Chromosome X, 55047628: 55047628
6 ALAS2 NM_000032.4(ALAS2): c.495C> A (p.Phe165Leu) single nucleotide variant Pathogenic rs137852301 GRCh38 Chromosome X, 55021195: 55021195
7 ALAS2 NM_000032.4(ALAS2): c.871G> A (p.Gly291Ser) single nucleotide variant Pathogenic rs137852302 GRCh37 Chromosome X, 55044051: 55044051
8 ALAS2 NM_000032.4(ALAS2): c.871G> A (p.Gly291Ser) single nucleotide variant Pathogenic rs137852302 GRCh38 Chromosome X, 55017618: 55017618
9 ALAS2 NM_000032.4(ALAS2): c.895A> C (p.Lys299Gln) single nucleotide variant Pathogenic rs137852303 GRCh37 Chromosome X, 55044027: 55044027
10 ALAS2 NM_000032.4(ALAS2): c.895A> C (p.Lys299Gln) single nucleotide variant Pathogenic rs137852303 GRCh38 Chromosome X, 55017594: 55017594
11 ALAS2 NM_000032.4(ALAS2): c.514G> A (p.Ala172Thr) single nucleotide variant Pathogenic rs137852304 GRCh37 Chromosome X, 55047609: 55047609
12 ALAS2 NM_000032.4(ALAS2): c.514G> A (p.Ala172Thr) single nucleotide variant Pathogenic rs137852304 GRCh38 Chromosome X, 55021176: 55021176
13 ALAS2 NM_000032.4(ALAS2): c.569A> T (p.Asp190Val) single nucleotide variant Pathogenic rs28935484 GRCh37 Chromosome X, 55047554: 55047554
14 ALAS2 NM_000032.4(ALAS2): c.569A> T (p.Asp190Val) single nucleotide variant Pathogenic rs28935484 GRCh38 Chromosome X, 55021121: 55021121
15 ALAS2 NM_000032.4(ALAS2): c.1231C> T (p.Arg411Cys) single nucleotide variant Pathogenic rs137852305 GRCh37 Chromosome X, 55041386: 55041386
16 ALAS2 NM_000032.4(ALAS2): c.1231C> T (p.Arg411Cys) single nucleotide variant Pathogenic rs137852305 GRCh38 Chromosome X, 55014953: 55014953
17 ALAS2 NM_000032.4(ALAS2): c.1702A> G (p.Ser568Gly) single nucleotide variant Pathogenic rs137852306 GRCh37 Chromosome X, 55035675: 55035675
18 ALAS2 NM_000032.4(ALAS2): c.1702A> G (p.Ser568Gly) single nucleotide variant Pathogenic rs137852306 GRCh38 Chromosome X, 55009242: 55009242
19 ALAS2 NM_000032.4(ALAS2): c.1184G> A (p.Cys395Tyr) single nucleotide variant Pathogenic rs137852307 GRCh37 Chromosome X, 55041433: 55041433
20 ALAS2 NM_000032.4(ALAS2): c.1184G> A (p.Cys395Tyr) single nucleotide variant Pathogenic rs137852307 GRCh38 Chromosome X, 55015000: 55015000
21 ALAS2 NM_000032.4(ALAS2): c.475G> T (p.Asp159Tyr) single nucleotide variant Pathogenic rs137852308 GRCh37 Chromosome X, 55047648: 55047648
22 ALAS2 NM_000032.4(ALAS2): c.475G> T (p.Asp159Tyr) single nucleotide variant Pathogenic rs137852308 GRCh38 Chromosome X, 55021215: 55021215
23 ALAS2 NM_000032.4(ALAS2): c.475G> A (p.Asp159Asn) single nucleotide variant Pathogenic rs137852308 GRCh37 Chromosome X, 55047648: 55047648
24 ALAS2 NM_000032.4(ALAS2): c.475G> A (p.Asp159Asn) single nucleotide variant Pathogenic rs137852308 GRCh38 Chromosome X, 55021215: 55021215
25 ALAS2 NM_000032.4(ALAS2): c.1570C> G (p.His524Asp) single nucleotide variant Pathogenic rs137852309 GRCh37 Chromosome X, 55039949: 55039949
26 ALAS2 NM_000032.4(ALAS2): c.1570C> G (p.His524Asp) single nucleotide variant Pathogenic rs137852309 GRCh38 Chromosome X, 55013516: 55013516
27 ALAS2 NM_000032.4(ALAS2): c.595T> C (p.Tyr199His) single nucleotide variant Pathogenic rs137852310 GRCh37 Chromosome X, 55047528: 55047528
28 ALAS2 NM_000032.4(ALAS2): c.595T> C (p.Tyr199His) single nucleotide variant Pathogenic rs137852310 GRCh38 Chromosome X, 55021095: 55021095
29 ALAS2 NM_000032.4(ALAS2): c.1354C> T (p.Arg452Cys) single nucleotide variant Pathogenic rs137852311 GRCh37 Chromosome X, 55041263: 55041263
30 ALAS2 NM_000032.4(ALAS2): c.1354C> T (p.Arg452Cys) single nucleotide variant Pathogenic rs137852311 GRCh38 Chromosome X, 55014830: 55014830
31 SLC25A38 NM_017875.3(SLC25A38): c.165G> A (p.Leu55=) single nucleotide variant Benign rs2270770 GRCh37 Chromosome 3, 39431081: 39431081
32 SLC25A38 NM_017875.3(SLC25A38): c.165G> A (p.Leu55=) single nucleotide variant Benign rs2270770 GRCh38 Chromosome 3, 39389590: 39389590
33 SLC25A38 NM_017875.3(SLC25A38): c.-303A> C single nucleotide variant Likely benign rs114422738 GRCh38 Chromosome 3, 39383422: 39383422
34 SLC25A38 NM_017875.3(SLC25A38): c.-303A> C single nucleotide variant Likely benign rs114422738 GRCh37 Chromosome 3, 39424913: 39424913
35 SLC25A38 NM_017875.3(SLC25A38): c.239C> G (p.Thr80Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs144149294 GRCh37 Chromosome 3, 39431961: 39431961
36 SLC25A38 NM_017875.3(SLC25A38): c.239C> G (p.Thr80Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs144149294 GRCh38 Chromosome 3, 39390470: 39390470
37 SLC25A38 NM_017875.3(SLC25A38): c.446C> T (p.Thr149Met) single nucleotide variant Uncertain significance rs143865753 GRCh37 Chromosome 3, 39433101: 39433101
38 SLC25A38 NM_017875.3(SLC25A38): c.446C> T (p.Thr149Met) single nucleotide variant Uncertain significance rs143865753 GRCh38 Chromosome 3, 39391610: 39391610
39 SLC25A38 NM_017875.3(SLC25A38): c.570C> A (p.Pro190=) single nucleotide variant Uncertain significance rs886058471 GRCh37 Chromosome 3, 39433457: 39433457
40 SLC25A38 NM_017875.3(SLC25A38): c.570C> A (p.Pro190=) single nucleotide variant Uncertain significance rs886058471 GRCh38 Chromosome 3, 39391966: 39391966
41 SLC25A38 NM_017875.3(SLC25A38): c.652A> T (p.Ile218Phe) single nucleotide variant Uncertain significance rs764125735 GRCh38 Chromosome 3, 39394436: 39394436
42 SLC25A38 NM_017875.3(SLC25A38): c.652A> T (p.Ile218Phe) single nucleotide variant Uncertain significance rs764125735 GRCh37 Chromosome 3, 39435927: 39435927
43 SLC25A38 NM_017875.3(SLC25A38): c.*370C> T single nucleotide variant Uncertain significance rs886058472 GRCh38 Chromosome 3, 39396890: 39396890
44 SLC25A38 NM_017875.3(SLC25A38): c.*370C> T single nucleotide variant Uncertain significance rs886058472 GRCh37 Chromosome 3, 39438381: 39438381
45 SLC25A38 NM_017875.3(SLC25A38): c.-227G> A single nucleotide variant Uncertain significance rs886058468 GRCh38 Chromosome 3, 39383498: 39383498
46 SLC25A38 NM_017875.3(SLC25A38): c.-227G> A single nucleotide variant Uncertain significance rs886058468 GRCh37 Chromosome 3, 39424989: 39424989
47 SLC25A38 NM_017875.3(SLC25A38): c.-161G> A single nucleotide variant Uncertain significance rs528990278 GRCh38 Chromosome 3, 39383564: 39383564
48 SLC25A38 NM_017875.3(SLC25A38): c.-161G> A single nucleotide variant Uncertain significance rs528990278 GRCh37 Chromosome 3, 39425055: 39425055
49 SLC25A38 NM_017875.3(SLC25A38): c.12C> T (p.Asn4=) single nucleotide variant Conflicting interpretations of pathogenicity rs142420345 GRCh38 Chromosome 3, 39383736: 39383736
50 SLC25A38 NM_017875.3(SLC25A38): c.12C> T (p.Asn4=) single nucleotide variant Conflicting interpretations of pathogenicity rs142420345 GRCh37 Chromosome 3, 39425227: 39425227

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 9.1 ABCB7 ACO1 ALAS1 ALAS2 FECH UROS

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

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 metabolic process GO:0008152 9.84 ACO1 ALAD ALAS1 ALAS2
2 response to ethanol GO:0045471 9.65 ALAD FECH HAMP
3 cellular iron ion homeostasis GO:0006879 9.65 ABCB7 ACO1 ALAS2 HAMP TFRC
4 biosynthetic process GO:0009058 9.56 ALAS1 ALAS2
5 response to zinc ion GO:0010043 9.55 ALAD HAMP
6 porphyrin-containing compound biosynthetic process GO:0006779 9.54 ALAD FECH UROS
7 response to lead ion GO:0010288 9.52 ALAD FECH
8 response to metal ion GO:0010038 9.51 ALAD FECH
9 response to platinum ion GO:0070541 9.5 ALAD FECH UROS
10 response to iron ion GO:0010039 9.49 ALAD HAMP
11 response to arsenic-containing substance GO:0046685 9.46 ALAD FECH
12 protoporphyrinogen IX biosynthetic process GO:0006782 9.46 ALAD ALAS1 ALAS2 UROS
13 response to methylmercury GO:0051597 9.43 ALAD FECH
14 porphyrin-containing compound metabolic process GO:0006778 9.4 ALAS1 ALAS2
15 tetrapyrrole biosynthetic process GO:0033014 9.26 ALAD ALAS1 ALAS2 UROS
16 heme biosynthetic process GO:0006783 9.02 ALAD ALAS1 ALAS2 FECH UROS

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

# Name GO ID Score Top Affiliating Genes
1 iron-sulfur cluster binding GO:0051536 9.32 ACO1 FECH
2 pyridoxal phosphate binding GO:0030170 9.26 ALAS1 ALAS2
3 lyase activity GO:0016829 9.26 ACO1 ALAD FECH UROS
4 ferrous iron binding GO:0008198 9.16 FECH TET2
5 5-aminolevulinate synthase activity GO:0003870 8.62 ALAS1 ALAS2

Sources for Anemia, Sideroblastic, 1

3 CDC
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9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
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30 HGMD
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62 PubMed
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69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
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74 UMLS via Orphanet
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