ATMDS
MCID: ALP034
MIFTS: 21

Alpha-Thalassemia Myelodysplasia Syndrome, Somatic (ATMDS) malady

Blood diseases, Rare diseases categories

Summaries for Alpha-Thalassemia Myelodysplasia Syndrome, Somatic

About this section
Sources:
48OMIM, 34MalaCards
See all sources

Fully expand this MalaCard

Download this MalaCard
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:48 300448

Aliases & Classifications for Alpha-Thalassemia Myelodysplasia Syndrome, Somatic

About this section
Sources:
48OMIM, 50Orphanet, 63UMLS, 27ICD10 via Orphanet
See all sources

Classifications:

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


Characteristics (Orphanet epidemiological data):

50
acquired hemoglobin h disease:
Inheritance: Sporadic; Prevalence: <1/1000000; Age of onset: Adulthood; Age of death: Elderly


Aliases & Descriptions:

alpha-thalassemia myelodysplasia syndrome, somatic 48
acquired hemoglobin h disease 50 63
alpha-thalassemia - myelodysplastic syndrome 50
acquired hbh disease 50
atmds 50


External Ids:

ICD10 via Orphanet27 D46.7, D56.0
OMIM48 300448

Related Diseases for Alpha-Thalassemia Myelodysplasia Syndrome, Somatic

About this section
Sources:
18GeneCards, 19GeneDecks
See all sources

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

About this section
Sources:
48OMIM, 50Orphanet
See all sources


Clinical features from OMIM:

300448

Symptoms:

50 (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

About this section
Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
See all sources

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

About this section

Anatomical Context for Alpha-Thalassemia Myelodysplasia Syndrome, Somatic

About this section
Sources:
34MalaCards
See all sources

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

34
Lung

Animal Models for Alpha-Thalassemia Myelodysplasia Syndrome, Somatic or affiliated genes

About this section

Publications for Alpha-Thalassemia Myelodysplasia Syndrome, Somatic

About this section

Variations for Alpha-Thalassemia Myelodysplasia Syndrome, Somatic

About this section
Sources:
1 National Center for Biotechnology Information (Clinvar)
See all sources

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

About this section
Sources:
2BioGPS, 16Gene Expression Omnibus DataSets
See all sources
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

About this section

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

About this section

GO Terms for genes affiliated with Alpha-Thalassemia Myelodysplasia Syndrome, Somatic

About this section

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

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Alpha-Thalassemia Myelodysplasia Syndrome, Somatic

About this section
4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet