ATMDS
MCID: ALP034
MIFTS: 20

Alpha-Thalassemia Myelodysplasia Syndrome, Somatic (ATMDS) malady

Blood diseases category

Summaries for Alpha-Thalassemia Myelodysplasia Syndrome, Somatic

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46OMIM, 32MalaCards
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MalaCards: Alpha-Thalassemia Myelodysplasia Syndrome, Somatic, also known as acquired hemoglobin h disease, is related to adenosine deaminase deficiency and acute leukemia, and has symptoms including acute leukemia, neoplasms/tumors and immunodeficiency/increased susceptibility to infections/recurrent infections. An important gene associated with Alpha-Thalassemia Myelodysplasia Syndrome, Somatic is ATRX (alpha thalassemia/mental retardation syndrome X-linked). Affiliated tissues include lung.

Description from OMIM:46 300448

Aliases & Classifications for Alpha-Thalassemia Myelodysplasia Syndrome, Somatic

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Sources:
46OMIM, 48Orphanet, 60UMLS, 26ICD10 via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

48
acquired hemoglobin h disease:
Inheritance: Sporadic; Prevalence: <1/1000000; Age of onset: Adulthood; Age of death: Elderly


Aliases & Descriptions:

alpha-thalassemia myelodysplasia syndrome, somatic 46
acquired hemoglobin h disease 48 60
alpha-thalassemia - myelodysplastic syndrome 48
acquired hbh disease 48
atmds 48


External Ids:

ICD10 via Orphanet26 D46.7, D56.0
OMIM46 300448

Related Diseases for Alpha-Thalassemia Myelodysplasia Syndrome, Somatic

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17GeneCards, 18GeneDecks
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Diseases related to Alpha-Thalassemia Myelodysplasia Syndrome, Somatic via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1adenosine deaminase deficiency10.2
2acute leukemia10.2
3myelofibrosis10.2
4sideroblastic anemia10.2

Clinical Features for Alpha-Thalassemia Myelodysplasia Syndrome, Somatic

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46OMIM, 48Orphanet
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Clinical features from OMIM:

300448

Symptoms:

48 (show all 12)
  • acute leukemia
  • neoplasms/tumors
  • immunodeficiency/increased susceptibility to infections/recurrent infections
  • splenomegaly
  • hemorrhage/hemorrhagic syndrome/excessive/long-lasting bleeding
  • bruisability
  • respiratory distress/dyspnea/respiratory failure/lung volume reduction
  • asthenia/fatigue/weakness
  • myelodysplastic syndrome
  • thrombocytopenia/thrombopenia
  • polynuclear cells/neutrophils anomalies/neutropenia
  • microcytic anemia

Drugs & Therapeutics for Alpha-Thalassemia Myelodysplasia Syndrome, Somatic

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Alpha-Thalassemia Myelodysplasia Syndrome, Somatic

Drug clinical trials:

Search ClinicalTrials for Alpha-Thalassemia Myelodysplasia Syndrome, Somatic

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

Search CenterWatch 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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32MalaCards
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MalaCards organs/tissues related to Alpha-Thalassemia Myelodysplasia Syndrome, Somatic:

32
Lung

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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Genetic Variations for Alpha-Thalassemia Myelodysplasia Syndrome, Somatic

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

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Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Alpha-Thalassemia Myelodysplasia Syndrome, Somatic

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

Sources for Alpha-Thalassemia Myelodysplasia Syndrome, Somatic

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet