ATMDS
MCID: ALP034
MIFTS: 21

Alpha-Thalassemia Myelodysplasia Syndrome, Somatic (ATMDS) malady

Blood diseases, Rare diseases categories
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Summaries for Alpha-Thalassemia Myelodysplasia Syndrome, Somatic

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47OMIM, 33MalaCards
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MalaCards: Alpha-Thalassemia Myelodysplasia Syndrome, Somatic, also known as acquired hemoglobin h disease, is related to alpha thalassemia and thalassemia, and has symptoms including hemorrhage/hemorrhagic syndrome/excessive/long-lasting bleeding, bruisability and polynuclear cells/neutrophils anomalies/neutropenia. 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:47 300448

Aliases & Classifications for Alpha-Thalassemia Myelodysplasia Syndrome, Somatic

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47OMIM, 49Orphanet, 62UMLS, 26ICD10 via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

49
acquired hemoglobin h disease:
Inheritance: Sporadic; Prevalence: <1/1000000; Age of onset: Adulthood; Age of death: Elderly


Aliases & Descriptions:

alpha-thalassemia myelodysplasia syndrome, somatic 47
acquired hemoglobin h disease 49 62
alpha-thalassemia - myelodysplastic syndrome 49
acquired hbh disease 49
atmds 49


External Ids:

ICD10 via Orphanet26 D46.7, D56.0
OMIM47 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
1alpha thalassemia10.4
2thalassemia10.4
3myelodysplastic syndromes10.4
4adenosine deaminase deficiency10.2
5leukemia10.2
6myelofibrosis10.2
7sideroblastic anemia10.2
8acquired kidney disease-associated renal cell carcinoma10.2
9refractory anemia10.2

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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47OMIM, 49Orphanet
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Clinical features from OMIM:

300448

Symptoms:

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

Drugs & Therapeutics for Alpha-Thalassemia Myelodysplasia Syndrome, Somatic

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Sources:
42NIH Clinical Center, 6ClinicalTrials
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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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33MalaCards
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MalaCards organs/tissues related to Alpha-Thalassemia Myelodysplasia Syndrome, Somatic:

33
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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Variations for Alpha-Thalassemia Myelodysplasia Syndrome, Somatic

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1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Alpha-Thalassemia Myelodysplasia Syndrome, Somatic:

1
id Gene Name Type Significance SNP ID Assembly Location
1ATRXNM_000489.4(ATRX): c.20+1G> Asingle nucleotide variantPathogenic/card/alpha_thalassemia_myelodysplasia_syndrome_somaticGRCh37Chr 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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Sources:
2BioGPS, 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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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet