ATMDS
MCID: ALP013
MIFTS: 28

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 58 76 74
Acquired Hemoglobin H Disease 60 30 6
Atmds 58 60 76
Alpha-Thalassemia Myelodysplasia Syndrome, Somatic 58 13
Acquired Alpha-Thalassemia with Myelodysplastic Syndrome 76
Thalassemia, Alpha, Myelodysplasia Syndrome, Somatic 41
Alpha-Thalassemia-Myelodysplastic Syndrome 60
Hemoglobin H Disease, Acquired 58
Hemoglobin H Disease Acquired 76
Acquired Hbh Disease 60

Characteristics:

Orphanet epidemiological data:

60
alpha-thalassemia-myelodysplastic syndrome
Inheritance: Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult; Age of death: elderly;

Classifications:



Summaries for Alpha-Thalassemia Myelodysplasia Syndrome

UniProtKB/Swiss-Prot : 76 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 myelodysplastic syndrome. An important gene associated with Alpha-Thalassemia Myelodysplasia Syndrome is ATRX (ATRX Chromatin Remodeler). Affiliated tissues include myeloid, and related phenotypes are fatigue and thrombocytopenia

Description from OMIM: 300448

Related Diseases for Alpha-Thalassemia Myelodysplasia Syndrome

Diseases related to Alpha-Thalassemia Myelodysplasia Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 14)
# Related Disease Score Top Affiliating Genes
1 hemoglobin h disease 10.5
2 myelodysplastic syndrome 10.2
3 myelofibrosis 10.2
4 alpha-thalassemia 10.1
5 thalassemia 10.1
6 leukemia 10.1
7 down syndrome 9.9
8 leukemia, acute myeloid 9.9
9 aplastic anemia 9.9
10 pulmonary fibrosis and/or bone marrow failure, telomere-related, 2 9.9
11 adenosine deaminase deficiency 9.9
12 myeloid leukemia 9.9
13 sideroblastic anemia 9.9
14 refractory anemia 9.9

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:

60 33 (show all 15)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 fatigue 60 33 hallmark (90%) Very frequent (99-80%) HP:0012378
2 thrombocytopenia 60 33 hallmark (90%) Very frequent (99-80%) HP:0001873
3 microcytic anemia 60 33 hallmark (90%) Very frequent (99-80%) HP:0001935
4 neutropenia 60 33 hallmark (90%) Very frequent (99-80%) HP:0001875
5 hbh hemoglobin 33 hallmark (90%) HP:0011903
6 dyspnea 60 33 frequent (33%) Frequent (79-30%) HP:0002094
7 bruising susceptibility 60 33 frequent (33%) Frequent (79-30%) HP:0000978
8 splenomegaly 60 33 occasional (7.5%) Occasional (29-5%) HP:0001744
9 immunodeficiency 60 33 occasional (7.5%) Occasional (29-5%) HP:0002721
10 myelodysplasia 60 33 occasional (7.5%) Occasional (29-5%) HP:0002863
11 acute leukemia 60 33 occasional (7.5%) Occasional (29-5%) HP:0002488
12 abnormal bleeding 60 Frequent (79-30%)
13 hemoglobin h 60 Very frequent (99-80%)
14 hypochromic microcytic anemia 33 HP:0004840
15 reduced alpha/beta synthesis ratio 33 HP:0011907

Clinical features from OMIM:

300448

Drugs & Therapeutics for Alpha-Thalassemia Myelodysplasia Syndrome

Search Clinical Trials , NIH Clinical Center for 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 30 ATRX

Anatomical Context for Alpha-Thalassemia Myelodysplasia Syndrome

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

42
Myeloid

Publications for Alpha-Thalassemia Myelodysplasia Syndrome

Articles related to Alpha-Thalassemia Myelodysplasia Syndrome:

# Title Authors Year
1
Acquired hemoglobin h disease associated with Down syndrome. ( 20628319 )
2010
2
Acquired hemoglobin H disease in a patient with aplastic anemia evolving into acute myeloid leukemia. ( 15692723 )
2004
3
Identification of acquired somatic mutations in the gene encoding chromatin-remodeling factor ATRX in the alpha-thalassemia myelodysplasia syndrome (ATMDS). ( 12858175 )
2003
4
Myelodysplastic syndrome with acquired hemoglobin H disease. Evolution through megakaryoblastic transformation into myelofibrosis. ( 3279751 )
1988
5
S1 nuclease analysis of alpha-globin gene expression in preleukemic patients with acquired hemoglobin H disease after transfer to mouse erythroleukemia cells. ( 3031681 )
1987
6
Globin chain synthesis in acquired hemoglobin H disease. ( 284702 )
1979
7
Acquired hemoglobin H disease in idiopathic myelofibrosis. ( 484543 )
1979
8
Acquired hemoglobin H disease. ( 5113710 )
1971

Variations for Alpha-Thalassemia Myelodysplasia Syndrome

ClinVar genetic disease variations for Alpha-Thalassemia Myelodysplasia Syndrome:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 ATRX NM_000489.4(ATRX): c.20+1G> A single nucleotide variant Pathogenic rs587776756 GRCh37 Chromosome X, 77041467: 77041467
2 ATRX NM_000489.4(ATRX): c.20+1G> A single nucleotide variant Pathogenic rs587776756 GRCh38 Chromosome X, 77785981: 77785981
3 ATRX NM_000489.5(ATRX): c.236C> G (p.Ser79Ter) single nucleotide variant Pathogenic rs122445107 GRCh37 Chromosome X, 76953077: 76953077
4 ATRX NM_000489.5(ATRX): c.236C> G (p.Ser79Ter) single nucleotide variant Pathogenic rs122445107 GRCh38 Chromosome X, 77697589: 77697589
5 ATRX NM_000489.5(ATRX): c.4070A> G (p.Lys1357Arg) single nucleotide variant Uncertain significance rs1064796812 GRCh37 Chromosome X, 76918921: 76918921
6 ATRX NM_000489.5(ATRX): c.4070A> G (p.Lys1357Arg) single nucleotide variant Uncertain significance rs1064796812 GRCh38 Chromosome X, 77663432: 77663432

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

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9 Cosmic
10 dbSNP
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17 EFO
18 ExPASy
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35 ICD10 via Orphanet
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50 NCI
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59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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