MCID: ALP013
MIFTS: 24

Alpha-Thalassemia Myelodysplasia Syndrome

Categories: Genetic diseases, Blood 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 alpha-thalassemia. An important gene associated with Alpha-Thalassemia Myelodysplasia Syndrome is ATRX (ATRX, Chromatin Remodeler). Related phenotypes are bruising susceptibility and splenomegaly

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:

# Related Disease Score Top Affiliating Genes
1 hemoglobin h disease 10.1
2 alpha-thalassemia 10.0
3 thalassemia 10.0
4 myelofibrosis 9.8
5 leukemia 9.8
6 adenosine deaminase deficiency 9.8
7 sideroblastic anemia 9.8
8 refractory anemia 9.8

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 bruising susceptibility 59 32 frequent (33%) Frequent (79-30%) HP:0000978
2 splenomegaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0001744
3 thrombocytopenia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001873
4 neutropenia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001875
5 microcytic anemia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001935
6 dyspnea 59 32 frequent (33%) Frequent (79-30%) HP:0002094
7 acute leukemia 59 32 occasional (7.5%) Occasional (29-5%) HP:0002488
8 immunodeficiency 59 32 occasional (7.5%) Occasional (29-5%) HP:0002721
9 myelodysplasia 59 32 occasional (7.5%) Occasional (29-5%) HP:0002863
10 hemoglobin h 59 32 hallmark (90%) Very frequent (99-80%) HP:0011903
11 fatigue 59 32 hallmark (90%) Very frequent (99-80%) HP:0012378
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

Publications for Alpha-Thalassemia Myelodysplasia Syndrome

Articles related to Alpha-Thalassemia Myelodysplasia Syndrome:

# Title Authors Year
1
Identification of acquired somatic mutations in the gene encoding chromatin-remodeling factor ATRX in the alpha-thalassemia myelodysplasia syndrome (ATMDS). ( 12858175 )
2003

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

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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
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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