MCID: ALP034
MIFTS: 24

Alpha-Thalassemia Myelodysplasia Syndrome, Somatic malady

Categories: Genetic diseases, Blood diseases, Rare diseases

Aliases & Classifications for Alpha-Thalassemia Myelodysplasia Syndrome, Somatic

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Sources:
12diseasecard, 27GTR, 31ICD10 via Orphanet, 37MedGen, 39MeSH, 52OMIM, 54Orphanet, 68UMLS, 70UniProtKB/Swiss-Prot
See all MalaCards sources

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

Name: Alpha-Thalassemia Myelodysplasia Syndrome, Somatic 52 12
Alpha-Thalassemia Myelodysplasia Syndrome 52 70 68
Hemoglobin H Disease Acquired 70 27
Atmds 54 70
 
Acquired Alpha-Thalassemia with Myelodysplastic Syndrome 70
Alpha-Thalassemia-Myelodysplastic Syndrome 54
Acquired Hemoglobin H Disease 54
Acquired Hbh Disease 54

Characteristics:

Orphanet epidemiological data:

54
atmds:
Inheritance: Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult; Age of death: elderly

Classifications:



External Ids:

OMIM52 300448
Orphanet54 ORPHA231401
ICD10 via Orphanet31 D46.7, D56.0
MedGen37 C0585216

Summaries for Alpha-Thalassemia Myelodysplasia Syndrome, Somatic

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UniProtKB/Swiss-Prot:70 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 thrombocytopenia, abnormality of neutrophils and microcytic anemia. An important gene associated with Alpha-Thalassemia Myelodysplasia Syndrome, Somatic is ATRX (ATRX, Chromatin Remodeler). Affiliated tissues include neutrophil.

Description from OMIM:52 300448

Related Diseases for Alpha-Thalassemia Myelodysplasia Syndrome, Somatic

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

idRelated DiseaseScoreTop Affiliating Genes
1myelodysplastic syndrome10.1
2thalassemia9.9
3leukemia9.8
4myelofibrosis9.8
5adenosine deaminase deficiency9.8
6sideroblastic anemia9.8
7refractory anemia9.8

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



Diseases related to alpha-thalassemia myelodysplasia syndrome, somatic

Symptoms & Phenotypes for Alpha-Thalassemia Myelodysplasia Syndrome, Somatic

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Clinical features from OMIM:

300448

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

 64 54 (show all 18)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 thrombocytopenia64 54 hallmark (90%) Very frequent (99-80%) HP:0001873
2 abnormality of neutrophils64 hallmark (90%) HP:0001874
3 microcytic anemia64 54 hallmark (90%) Very frequent (99-80%) HP:0001935
4 myelodysplasia64 54 hallmark (90%) Occasional (29-5%) HP:0002863
5 bruising susceptibility64 54 typical (50%) Frequent (79-30%) HP:0000978
6 abnormality of coagulation64 typical (50%) HP:0001928
7 respiratory insufficiency64 typical (50%) HP:0002093
8 splenomegaly64 54 occasional (7.5%) Occasional (29-5%) HP:0001744
9 acute leukemia64 54 occasional (7.5%) Occasional (29-5%) HP:0002488
10 abnormality of immune system physiology64 occasional (7.5%) HP:0010978
11 hypochromic microcytic anemia64 HP:0004840
12 hemoglobin h64 54 Very frequent (99-80%) HP:0011903
13 reduced alpha/beta synthesis ratio64 HP:0011907
14 neutropenia54 Very frequent (99-80%)
15 abnormal bleeding54 Frequent (79-30%)
16 dyspnea54 Frequent (79-30%)
17 immunodeficiency54 Occasional (29-5%)
18 fatigue54 Very frequent (99-80%)

Drugs & Therapeutics for Alpha-Thalassemia Myelodysplasia Syndrome, Somatic

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Interventional clinical trials:

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

Genetic Tests for Alpha-Thalassemia Myelodysplasia Syndrome, Somatic

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

id Genetic test Affiliating Genes
1 Acquired Hemoglobin H Disease27

Anatomical Context for Alpha-Thalassemia Myelodysplasia Syndrome, Somatic

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

36
Neutrophil

Publications for Alpha-Thalassemia Myelodysplasia Syndrome, Somatic

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Variations for Alpha-Thalassemia Myelodysplasia Syndrome, Somatic

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

5
id Gene Variation Type Significance SNP ID Assembly Location
1ATRXNM_000489.4(ATRX): c.20+1G> ASNVPathogenicrs587776756GRCh37Chr X, 77041467: 77041467
2ATRXNM_000489.4(ATRX): c.236C> G (p.Ser79Ter)SNVPathogenicrs122445107GRCh37Chr X, 76953077: 76953077

Expression for genes affiliated with Alpha-Thalassemia Myelodysplasia Syndrome, Somatic

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

Pathways for genes affiliated with Alpha-Thalassemia Myelodysplasia Syndrome, Somatic

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GO Terms for genes affiliated with Alpha-Thalassemia Myelodysplasia Syndrome, Somatic

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Sources for Alpha-Thalassemia Myelodysplasia Syndrome, Somatic

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet