MCID: ALP034
MIFTS: 27

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:
50OMIM, 12diseasecard, 68UniProtKB/Swiss-Prot, 66UMLS, 52Orphanet, 25GTR, 29ICD10 via Orphanet, 35MedGen, 37MeSH
See all MalaCards sources

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

Name: Alpha-Thalassemia Myelodysplasia Syndrome, Somatic 50 12
Alpha-Thalassemia Myelodysplasia Syndrome 50 68 66
Hemoglobin H Disease Acquired 68 25
Atmds 52 68
 
Acquired Alpha-Thalassemia with Myelodysplastic Syndrome 68
Alpha-Thalassemia-Myelodysplastic Syndrome 52
Acquired Hemoglobin H Disease 52
Acquired Hbh Disease 52

Characteristics:

Orphanet epidemiological data:

52
atmds:
Inheritance: Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult; Age of death: elderly

Classifications:



External Ids:

OMIM50 300448
Orphanet52 ORPHA231401
ICD10 via Orphanet29 D46.7, D56.0
MedGen35 C0585216

Summaries for Alpha-Thalassemia Myelodysplasia Syndrome, Somatic

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UniProtKB/Swiss-Prot:68 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:50 300448

Related Diseases for Alpha-Thalassemia Myelodysplasia Syndrome, Somatic

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



Diseases related to alpha-thalassemia myelodysplasia syndrome, somatic

Symptoms for Alpha-Thalassemia Myelodysplasia Syndrome, Somatic

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Clinical features from OMIM:

300448

Symptoms:

 52 (show all 12)
  • bruising susceptibility
  • splenomegaly
  • thrombocytopenia
  • neutropenia
  • abnormal bleeding
  • microcytic anemia
  • dyspnea
  • acute leukemia
  • immunodeficiency
  • myelodysplasia
  • hemoglobin h
  • fatigue

HPO human phenotypes related to Alpha-Thalassemia Myelodysplasia Syndrome, Somatic:

(show all 14)
id Description Frequency HPO Source Accession
1 thrombocytopenia hallmark (90%) HP:0001873
2 abnormality of neutrophils hallmark (90%) HP:0001874
3 microcytic anemia hallmark (90%) HP:0001935
4 myelodysplasia hallmark (90%) HP:0002863
5 bruising susceptibility typical (50%) HP:0000978
6 abnormality of coagulation typical (50%) HP:0001928
7 respiratory insufficiency typical (50%) HP:0002093
8 splenomegaly occasional (7.5%) HP:0001744
9 acute leukemia occasional (7.5%) HP:0002488
10 abnormality of immune system physiology occasional (7.5%) HP:0010978
11 myelodysplasia HP:0002863
12 hypochromic microcytic anemia HP:0004840
13 hemoglobin h HP:0011903
14 reduced alpha/beta synthesis ratio HP:0011907

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 Disease25

Anatomical Context for Alpha-Thalassemia Myelodysplasia Syndrome, Somatic

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

34
Neutrophil

Animal Models for Alpha-Thalassemia Myelodysplasia Syndrome, Somatic or affiliated genes

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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> Asingle nucleotide variantPathogenicrs587776756GRCh37Chr X, 77041467: 77041467
2ATRXNM_000489.4(ATRX): c.236C> G (p.Ser79Ter)single nucleotide variantPathogenicrs122445107GRCh37Chr 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
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet