ATMDS
MCID: ALP034
MIFTS: 24

Alpha-Thalassemia Myelodysplasia Syndrome, Somatic (ATMDS) malady

Categories: Genetic diseases, Blood diseases, Rare diseases

Aliases & Classifications for Alpha-Thalassemia Myelodysplasia Syndrome, Somatic

Aliases & Descriptions for Alpha-Thalassemia Myelodysplasia Syndrome, Somatic:

Name: Alpha-Thalassemia Myelodysplasia Syndrome, Somatic 54 13
Alpha-Thalassemia Myelodysplasia Syndrome 54 66 69
Hemoglobin H Disease Acquired 66 29
Atmds 56 66
Acquired Alpha-Thalassemia with Myelodysplastic Syndrome 66
Alpha-Thalassemia-Myelodysplastic Syndrome 56
Acquired Hemoglobin H Disease 56
Acquired Hbh Disease 56

Characteristics:

Orphanet epidemiological data:

56
alpha-thalassemia-myelodysplastic syndrome
Inheritance: Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult; Age of death: elderly;

Classifications:



External Ids:

OMIM 54 300448
Orphanet 56 ORPHA231401
ICD10 via Orphanet 34 D46.7 D56.0
MedGen 40 C0585216

Summaries for Alpha-Thalassemia Myelodysplasia Syndrome, Somatic

UniProtKB/Swiss-Prot : 66 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, Somatic, also known as alpha-thalassemia myelodysplasia syndrome, is related to myelodysplastic syndrome and thalassemia, and has symptoms including fatigue, dyspnea and splenomegaly. An important gene associated with Alpha-Thalassemia Myelodysplasia Syndrome, Somatic is ATRX (ATRX, Chromatin Remodeler).

Description from OMIM: 300448

Related Diseases for Alpha-Thalassemia Myelodysplasia Syndrome, Somatic

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

id Related Disease Score Top Affiliating Genes
1 myelodysplastic syndrome 10.1
2 thalassemia 9.9
3 refractory anemia 9.8
4 leukemia 9.8
5 myelofibrosis 9.8
6 adenosine deaminase deficiency 9.8
7 sideroblastic anemia 9.8

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



Diseases related to Alpha-Thalassemia Myelodysplasia Syndrome, Somatic

Symptoms & Phenotypes for Alpha-Thalassemia Myelodysplasia Syndrome, Somatic

Clinical features from OMIM:

300448

Human phenotypes related to Alpha-Thalassemia Myelodysplasia Syndrome, Somatic:

56 32 (show all 14)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 fatigue 56 32 Very frequent (99-80%) HP:0012378
2 dyspnea 56 32 Frequent (79-30%) HP:0002094
3 splenomegaly 56 32 Occasional (29-5%) HP:0001744
4 immunodeficiency 56 32 Occasional (29-5%) HP:0002721
5 myelodysplasia 56 32 Occasional (29-5%) HP:0002863
6 thrombocytopenia 56 32 Very frequent (99-80%) HP:0001873
7 microcytic anemia 56 32 Very frequent (99-80%) HP:0001935
8 neutropenia 56 32 Very frequent (99-80%) HP:0001875
9 bruising susceptibility 56 32 Frequent (79-30%) HP:0000978
10 acute leukemia 56 32 Occasional (29-5%) HP:0002488
11 hemoglobin h 56 32 Very frequent (99-80%) HP:0011903
12 abnormal bleeding 56 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, Somatic

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

Genetic Tests for Alpha-Thalassemia Myelodysplasia Syndrome, Somatic

Genetic tests related to Alpha-Thalassemia Myelodysplasia Syndrome, Somatic:

id Genetic test Affiliating Genes
1 Acquired Hemoglobin H Disease 29

Anatomical Context for Alpha-Thalassemia Myelodysplasia Syndrome, Somatic

Publications for Alpha-Thalassemia Myelodysplasia Syndrome, Somatic

Variations for Alpha-Thalassemia Myelodysplasia Syndrome, Somatic

ClinVar genetic disease variations for Alpha-Thalassemia Myelodysplasia Syndrome, Somatic:

6
id 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.236C> G (p.Ser79Ter) single nucleotide variant Pathogenic rs122445107 GRCh37 Chromosome X, 76953077: 76953077

Expression for Alpha-Thalassemia Myelodysplasia Syndrome, Somatic

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

Pathways for Alpha-Thalassemia Myelodysplasia Syndrome, Somatic

GO Terms for Alpha-Thalassemia Myelodysplasia Syndrome, Somatic

Sources for Alpha-Thalassemia Myelodysplasia Syndrome, Somatic

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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