MCID: ALP034
MIFTS: 11

Alpha-Thalassemia Myelodysplasia Syndrome, Somatic malady

Genetic diseases (common), Blood diseases categories

Summaries for Alpha-Thalassemia Myelodysplasia Syndrome, Somatic

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MalaCards based summary: Alpha-Thalassemia Myelodysplasia Syndrome, Somatic, also known as alpha-thalassemia myelodysplasia syndrome, is related to thalassemia and alpha-thalassemia - myelodysplastic syndrome, and has symptoms including myelodysplasia, hypochromic microcytic anemia and hemoglobin h. An important gene associated with Alpha-Thalassemia Myelodysplasia Syndrome, Somatic is ATRX (alpha thalassemia/mental retardation syndrome X-linked).

Description from OMIM:45 300448

Aliases & Classifications for Alpha-Thalassemia Myelodysplasia Syndrome, Somatic

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

Name: Alpha-Thalassemia Myelodysplasia Syndrome, Somatic 45 10
 
Alpha-Thalassemia Myelodysplasia Syndrome 45 60


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases (common)
Anatomical: Blood diseases


External Ids:

OMIM45 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
1thalassemia10.3
2alpha-thalassemia - myelodysplastic syndrome10.3

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:

id Description Frequency HPO Source Accession
1 myelodysplasia HP:0002863
2 hypochromic microcytic anemia HP:0004840
3 hemoglobin h HP:0011903
4 reduced alpha/beta synthesis ratio HP:0011907

Drugs & Therapeutics for Alpha-Thalassemia Myelodysplasia Syndrome, Somatic

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Drug clinical trials:

Search ClinicalTrials for Alpha-Thalassemia Myelodysplasia Syndrome, Somatic

Search 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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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:

6
id Gene Variation Type Significance SNP ID Assembly Location
1ATRXNM_000489.4(ATRX): c.20+1G> Asingle nucleotide variantPathogenicGRCh37Chr 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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Compounds 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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Products for genes affiliated with Alpha-Thalassemia Myelodysplasia Syndrome, Somatic

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Alpha-Thalassemia Myelodysplasia Syndrome, Somatic

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet