MCID: ALP034
MIFTS: 24

Alpha-Thalassemia Myelodysplasia Syndrome, Somatic malady

Categories: Genetic diseases (common), Blood diseases

Aliases & Classifications for Alpha-Thalassemia Myelodysplasia Syndrome, Somatic

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

Name: Alpha-Thalassemia Myelodysplasia Syndrome, Somatic 49 11
Alpha-Thalassemia Myelodysplasia Syndrome 67 65
Acquired Alpha-Thalassemia with Myelodysplastic Syndrome 67
 
Hemoglobin H Disease Acquired 67
Atmds 67

Classifications:



External Ids:

OMIM49 300448
MedGen34 C0585216
UMLS65 C0585216

Summaries for Alpha-Thalassemia Myelodysplasia Syndrome, Somatic

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UniProtKB/Swiss-Prot:67 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 alpha-thalassemia-myelodysplastic syndrome and thalassemia, and has symptoms including myelodysplasia, microcytic anemia and abnormality of neutrophils. An important gene associated with Alpha-Thalassemia Myelodysplasia Syndrome, Somatic is ATRX (Alpha Thalassemia/Mental Retardation Syndrome X-Linked). Affiliated tissues include neutrophil, skin and breast.

Description from OMIM:49 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

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

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

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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Anatomical Context for Alpha-Thalassemia Myelodysplasia Syndrome, Somatic

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

33
Neutrophil, Skin, Breast

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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Biological processes related to Alpha-Thalassemia Myelodysplasia Syndrome, Somatic according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1regulation of transcription, DNA-templatedGO:00063559.1ATRX, PQBP1

Molecular functions related to Alpha-Thalassemia Myelodysplasia Syndrome, Somatic according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1DNA bindingGO:00036779.1ATRX, PQBP1

Sources for Alpha-Thalassemia Myelodysplasia Syndrome, Somatic

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet