ATMDS
MCID: ALP013
MIFTS: 30

Alpha-Thalassemia Myelodysplasia Syndrome (ATMDS)

Categories: Blood diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Alpha-Thalassemia Myelodysplasia Syndrome

MalaCards integrated aliases for Alpha-Thalassemia Myelodysplasia Syndrome:

Name: Alpha-Thalassemia Myelodysplasia Syndrome 57 12 72 44 70
Acquired Hemoglobin H Disease 12 58 29 6
Atmds 57 12 58 72
Alpha-Thalassemia Myelodysplasia Syndrome, Somatic 57 13
Alpha-Thalassemia-Myelodysplastic Syndrome 12 58
Acquired Hbh Disease 12 58
Acquired Alpha-Thalassemia with Myelodysplastic Syndrome 72
Thalassemia, Alpha, Myelodysplasia Syndrome, Somatic 39
Hemoglobin H Disease, Acquired 57
Hemoglobin H Disease Acquired 72

Characteristics:

Orphanet epidemiological data:

58
alpha-thalassemia-myelodysplastic syndrome
Inheritance: Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult; Age of death: elderly;

Classifications:

Orphanet: 58  
Rare haematological diseases


External Ids:

Disease Ontology 12 DOID:0112125
OMIM® 57 300448
SNOMED-CT 67 307343001
ICD10 via Orphanet 33 D46.7 D56.0
UMLS via Orphanet 71 C0585216
Orphanet 58 ORPHA231401
MedGen 41 C0585216
UMLS 70 C0585216

Summaries for Alpha-Thalassemia Myelodysplasia Syndrome

UniProtKB/Swiss-Prot : 72 Alpha-thalassemia myelodysplasia syndrome: A disorder characterized by hypochromic, microcytic red blood cells, hemoglobin H detected in peripheral blood, and multilineage myelodysplasia.

MalaCards based summary : Alpha-Thalassemia Myelodysplasia Syndrome, also known as acquired hemoglobin h disease, is related to hemoglobin h disease and myelofibrosis. An important gene associated with Alpha-Thalassemia Myelodysplasia Syndrome is ATRX (ATRX Chromatin Remodeler). Affiliated tissues include myeloid, and related phenotypes are fatigue and microcytic anemia

Disease Ontology : 12 A syndrome characterized by acquired alpha-thalassemia in association with a multilineage myelodysplasia that has material basis in somatic mutation in ATRX on chromosome Xq21.1.

More information from OMIM: 300448

Related Diseases for Alpha-Thalassemia Myelodysplasia Syndrome

Graphical network of the top 20 diseases related to Alpha-Thalassemia Myelodysplasia Syndrome:



Diseases related to Alpha-Thalassemia Myelodysplasia Syndrome

Symptoms & Phenotypes for Alpha-Thalassemia Myelodysplasia Syndrome

Human phenotypes related to Alpha-Thalassemia Myelodysplasia Syndrome:

58 31 (show all 14)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 fatigue 58 31 hallmark (90%) Very frequent (99-80%) HP:0012378
2 microcytic anemia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001935
3 thrombocytopenia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001873
4 neutropenia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001875
5 hbh hemoglobin 58 31 hallmark (90%) Very frequent (99-80%) HP:0011903
6 dyspnea 58 31 frequent (33%) Frequent (79-30%) HP:0002094
7 bruising susceptibility 58 31 frequent (33%) Frequent (79-30%) HP:0000978
8 splenomegaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0001744
9 immunodeficiency 58 31 occasional (7.5%) Occasional (29-5%) HP:0002721
10 myelodysplasia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002863
11 acute leukemia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002488
12 abnormal bleeding 58 Frequent (79-30%)
13 hypochromic microcytic anemia 31 HP:0004840
14 reduced alpha/beta synthesis ratio 31 HP:0011907

Clinical features from OMIM®:

300448 (Updated 05-Apr-2021)

Drugs & Therapeutics for Alpha-Thalassemia Myelodysplasia Syndrome

Search Clinical Trials , NIH Clinical Center for Alpha-Thalassemia Myelodysplasia Syndrome

Cochrane evidence based reviews: alpha-thalassemia myelodysplasia syndrome

Genetic Tests for Alpha-Thalassemia Myelodysplasia Syndrome

Genetic tests related to Alpha-Thalassemia Myelodysplasia Syndrome:

# Genetic test Affiliating Genes
1 Acquired Hemoglobin H Disease 29 ATRX

Anatomical Context for Alpha-Thalassemia Myelodysplasia Syndrome

MalaCards organs/tissues related to Alpha-Thalassemia Myelodysplasia Syndrome:

40
Myeloid

Publications for Alpha-Thalassemia Myelodysplasia Syndrome

Articles related to Alpha-Thalassemia Myelodysplasia Syndrome:

(show all 17)
# Title Authors PMID Year
1
Identification of acquired somatic mutations in the gene encoding chromatin-remodeling factor ATRX in the alpha-thalassemia myelodysplasia syndrome (ATMDS). 57 6 61
12858175 2003
2
A review of the molecular genetics of the human alpha-globin gene cluster. 57
2649166 1989
3
Acquired haemoglobin H disease in leukemia: pathophysiology and molecular basis. 57
273430 1978
4
How to Tackle Challenging ChIP-Seq, with Long-Range Cross-Linking, Using ATRX as an Example. 61
30073524 2018
5
Incidence of ATRX mutations in myelodysplastic syndromes, the value of microcytosis. 61
26017030 2015
6
α-Thalassemia, mental retardation, and myelodysplastic syndrome. 61
23028133 2012
7
A new ATRX mutation in a patient with acquired α-thalassemia myelodysplastic syndrome. 61
23092150 2012
8
Acquired alpha thalassemia myelodyslastic/myeloproliferative syndrome (ATMDS): evolution on hypomethylating agent therapy. 61
21831427 2011
9
The role of X-inactivation in the gender bias of patients with acquired alpha-thalassaemia and myelodysplastic syndrome (ATMDS). 61
19055664 2009
10
Mutations in the chromatin-associated protein ATRX. 61
18409179 2008
11
[Acquired alpha-thalassemia as early sign for myelodysplastic syndrome (refractory anaemia) with secondary haemochromatosis]. 61
17627922 2007
12
Intra-rater/inter-rater reliability of the air transport minimum data set. 61
17467569 2007
13
A novel mutation in the last exon of ATRX in a patient with alpha-thalassemia myelodysplastic syndrome. 61
16480427 2006
14
Somatic point mutations in RUNX1/CBFA2/AML1 are common in high-risk myelodysplastic syndrome, but not in myelofibrosis with myeloid metaplasia. 61
15613106 2005
15
Acquired somatic ATRX mutations in myelodysplastic syndrome associated with alpha thalassemia (ATMDS) convey a more severe hematologic phenotype than germline ATRX mutations. 61
14592816 2004
16
Deletion of the alpha-globin gene cluster as a cause of acquired alpha-thalassemia in myelodysplastic syndrome. 61
14576055 2004
17
Extension of Air Transport Minimum Data Set to fixed-wing environment. 61
14728535 2003

Variations for Alpha-Thalassemia Myelodysplasia Syndrome

ClinVar genetic disease variations for Alpha-Thalassemia Myelodysplasia Syndrome:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ATRX NM_000489.5(ATRX):c.20+1G>A SNV Pathogenic 11740 rs587776756 GRCh37: X:77041467-77041467
GRCh38: X:77785981-77785981
2 ATRX NM_000489.5(ATRX):c.236C>G (p.Ser79Ter) SNV Pathogenic 11741 rs122445107 GRCh37: X:76953077-76953077
GRCh38: X:77697589-77697589
3 ATRX NM_000489.5(ATRX):c.736C>T (p.Arg246Cys) SNV Pathogenic 11735 rs122445105 GRCh37: X:76940012-76940012
GRCh38: X:77684520-77684520
4 ATRX NM_000489.6(ATRX):c.479G>A (p.Arg160His) SNV Uncertain significance 1028790 GRCh37: X:76949318-76949318
GRCh38: X:77693829-77693829
5 ATRX NM_000489.5(ATRX):c.4070A>G (p.Lys1357Arg) SNV Uncertain significance 424128 rs1064796812 GRCh37: X:76918921-76918921
GRCh38: X:77663432-77663432
6 ATRX NM_000489.5(ATRX):c.6887A>G (p.Asn2296Ser) SNV Uncertain significance 520624 rs782274478 GRCh37: X:76777829-76777829
GRCh38: X:77522351-77522351
7 ATRX NM_000489.5(ATRX):c.4004G>T (p.Arg1335Ile) SNV Uncertain significance 571718 rs1569536694 GRCh37: X:76918987-76918987
GRCh38: X:77663498-77663498
8 ATRX NM_000489.5(ATRX):c.3211G>A (p.Gly1071Arg) SNV Uncertain significance 465052 rs143621153 GRCh37: X:76937537-76937537
GRCh38: X:77682045-77682045
9 ATRX NM_000489.5(ATRX):c.7432C>G (p.Pro2478Ala) SNV Uncertain significance 521610 rs199543136 GRCh37: X:76763876-76763876
GRCh38: X:77508398-77508398
10 ATRX NM_000489.6(ATRX):c.1916T>G (p.Leu639Trp) SNV Uncertain significance 988759 GRCh37: X:76938832-76938832
GRCh38: X:77683340-77683340

Expression for Alpha-Thalassemia Myelodysplasia Syndrome

Search GEO for disease gene expression data for Alpha-Thalassemia Myelodysplasia Syndrome.

Pathways for Alpha-Thalassemia Myelodysplasia Syndrome

GO Terms for Alpha-Thalassemia Myelodysplasia Syndrome

Sources for Alpha-Thalassemia Myelodysplasia Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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