MCID: HMG004
MIFTS: 23

Hemoglobin D Disease

Categories: Rare diseases, Genetic diseases, Endocrine diseases, Blood diseases

Aliases & Classifications for Hemoglobin D Disease

MalaCards integrated aliases for Hemoglobin D Disease:

Name: Hemoglobin D Disease 12 55 14 69
Hb-D Disease 12

Characteristics:

Orphanet epidemiological data:

55
hemoglobin d disease
Age of onset: Childhood;

Classifications:



External Ids:

Disease Ontology 12 DOID:5378
ICD10 32 D58.2
NCIt 46 C35344
SNOMED-CT 64 66729008
Orphanet 55 ORPHA90039
UMLS via Orphanet 70 C0272080
ICD10 via Orphanet 33 D58.2
UMLS 69 C0272080

Summaries for Hemoglobin D Disease

MalaCards based summary : Hemoglobin D Disease, also known as hb-d disease, is related to sickle cell - hemoglobin d disease and hemoglobin lepore-beta-thalassemia syndrome. An important gene associated with Hemoglobin D Disease is HBB (Hemoglobin Subunit Beta), and among its related pathways/superpathways is Factors involved in megakaryocyte development and platelet production.

Related Diseases for Hemoglobin D Disease

Graphical network of the top 20 diseases related to Hemoglobin D Disease:



Diseases related to Hemoglobin D Disease

Symptoms & Phenotypes for Hemoglobin D Disease

Drugs & Therapeutics for Hemoglobin D Disease

Search Clinical Trials , NIH Clinical Center for Hemoglobin D Disease

Genetic Tests for Hemoglobin D Disease

Anatomical Context for Hemoglobin D Disease

Publications for Hemoglobin D Disease

Articles related to Hemoglobin D Disease:

# Title Authors Year
1
Pulmonary thromboembolism in a child with sickle cell hemoglobin d disease in the setting of acute chest syndrome. ( 24159402 )
2013
2
First report of successful stem cell transplantation in a patient with sickle cell hemoglobin D disease. ( 20502357 )
2010
3
Hematological malignancy in hemoglobin D disease. ( 3162650 )
1988
4
Sickle cell hemoglobin D disease: first reported case in Iran. ( 754514 )
1978
5
The diagnosis of homozygous hemoglobin D disease. ( 5047609 )
1972
6
Hemoglobin D disease: report of a case. ( 5556213 )
1971
7
SICKLE CELL HEMOGLOBIN D DISEASE IN A NEGRO COLOMBIAN PATIENT. ( 14295513 )
1965

Variations for Hemoglobin D Disease

Expression for Hemoglobin D Disease

Search GEO for disease gene expression data for Hemoglobin D Disease.

Pathways for Hemoglobin D Disease

Pathways related to Hemoglobin D Disease according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.82 HBB HBD

GO Terms for Hemoglobin D Disease

Cellular components related to Hemoglobin D Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 blood microparticle GO:0072562 8.96 HBB HBD
2 hemoglobin complex GO:0005833 8.8 HBB HBD HBQ1

Biological processes related to Hemoglobin D Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 transport GO:0006810 9.33 HBB HBD HBQ1
2 blood coagulation GO:0007596 8.96 HBB HBD
3 oxygen transport GO:0015671 8.8 HBB HBD HBQ1

Molecular functions related to Hemoglobin D Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 iron ion binding GO:0005506 9.43 HBB HBD HBQ1
2 heme binding GO:0020037 9.33 HBB HBD HBQ1
3 oxygen binding GO:0019825 9.13 HBB HBD HBQ1
4 oxygen carrier activity GO:0005344 8.8 HBB HBD HBQ1

Sources for Hemoglobin D Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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