ATMDS
MCID: ALP034
MIFTS: 22

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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MalaCards based summary: Alpha-Thalassemia Myelodysplasia Syndrome, Somatic, also known as acquired hemoglobin h disease, is related to myelodysplastic syndromes and thalassemia, and has symptoms including microcytic anemia, polynuclear cells/neutrophils anomalies/neutropenia and thrombocytopenia/thrombopenia. An important gene associated with Alpha-Thalassemia Myelodysplasia Syndrome, Somatic is ATRX (alpha thalassemia/mental retardation syndrome X-linked). Affiliated tissues include lung and neutrophil.

Description from OMIM:46 300448

Aliases & Classifications for Alpha-Thalassemia Myelodysplasia Syndrome, Somatic

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Sources:
46OMIM, 48Orphanet, 62UMLS, 26ICD10 via Orphanet
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Alpha-Thalassemia Myelodysplasia Syndrome, Somatic, Aliases & Descriptions:

Name: Alpha-Thalassemia Myelodysplasia Syndrome, Somatic 46
Acquired Hemoglobin H Disease 48 62
Atmds 48 62
 
Alpha-Thalassemia - Myelodysplastic Syndrome 48
Acquired Hbh Disease 48


Classifications:

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


External Ids:

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

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/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1myelodysplastic syndromes10.4
2thalassemia10.4
3alpha thalassemia10.4
4leukemia10.2
5myelofibrosis10.2
6adenosine deaminase deficiency10.2
7sideroblastic anemia10.2
8refractory 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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Clinical features from OMIM:

300448

Symptoms:

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

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

32
Lung, 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:

6
id Gene Name 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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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

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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet