ATMDS
MCID: ALP013
MIFTS: 29

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 75 73
Acquired Hemoglobin H Disease 59 29 6
Atmds 57 59 75
Alpha-Thalassemia Myelodysplasia Syndrome, Somatic 57 13
Acquired Alpha-Thalassemia with Myelodysplastic Syndrome 75
Thalassemia, Alpha, Myelodysplasia Syndrome, Somatic 40
Alpha-Thalassemia-Myelodysplastic Syndrome 59
Hemoglobin H Disease, Acquired 57
Hemoglobin H Disease Acquired 75
Acquired Hbh Disease 59

Characteristics:

Orphanet epidemiological data:

59
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 : 75 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 bone, myeloid and bone marrow, and related phenotypes are splenomegaly and fatigue

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 10.4
2 myelodysplastic syndrome 10.2
3 myelofibrosis 10.2
4 alpha-thalassemia 10.1
5 thalassemia 10.1
6 down syndrome 9.9
7 leukemia, acute myeloid 9.9
8 aplastic anemia 9.9
9 pulmonary fibrosis and/or bone marrow failure, telomere-related, 2 9.9
10 leukemia 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

Clinical features from OMIM:

300448

Human phenotypes related to Alpha-Thalassemia Myelodysplasia Syndrome:

59 32 (show all 14)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 splenomegaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0001744
2 fatigue 59 32 hallmark (90%) Very frequent (99-80%) HP:0012378
3 dyspnea 59 32 frequent (33%) Frequent (79-30%) HP:0002094
4 immunodeficiency 59 32 occasional (7.5%) Occasional (29-5%) HP:0002721
5 myelodysplasia 59 32 occasional (7.5%) Occasional (29-5%) HP:0002863
6 thrombocytopenia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001873
7 microcytic anemia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001935
8 neutropenia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001875
9 bruising susceptibility 59 32 frequent (33%) Frequent (79-30%) HP:0000978
10 acute leukemia 59 32 occasional (7.5%) Occasional (29-5%) HP:0002488
11 hemoglobin h 59 32 hallmark (90%) Very frequent (99-80%) HP:0011903
12 abnormal bleeding 59 Frequent (79-30%)
13 hypochromic microcytic anemia 32 HP:0004840
14 reduced alpha/beta synthesis ratio 32 HP:0011907

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 29 ATRX

Anatomical Context for Alpha-Thalassemia Myelodysplasia Syndrome

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

41
Bone, Myeloid, Bone Marrow

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
Clinical features and molecular analysis of acquired hemoglobin H disease. ( 6881169 )
1983
7
Globin chain synthesis in acquired hemoglobin H disease. ( 284702 )
1979
8
Acquired hemoglobin H disease in idiopathic myelofibrosis. ( 484543 )
1979
9
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_000489.4(ATRX): c.236C> G (p.Ser79Ter) single nucleotide variant Pathogenic rs122445107 GRCh37 Chromosome X, 76953077: 76953077
4 ATRX NM_000489.4(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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10 dbSNP
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17 ExPASy
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58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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