MCID: HMG004
MIFTS: 23

Hemoglobin D Disease

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

Aliases & Classifications for Hemoglobin D Disease

MalaCards integrated aliases for Hemoglobin D Disease:

Name: Hemoglobin D Disease 12 59 15 73
Hb-D Disease 12
Hemoglobin D 6

Characteristics:

Orphanet epidemiological data:

59
hemoglobin d disease
Age of onset: Childhood;

Classifications:



External Ids:

Disease Ontology 12 DOID:5378
ICD10 33 D58.2
NCIt 50 C35344
SNOMED-CT 68 66729008
Orphanet 59 ORPHA90039
UMLS via Orphanet 74 C0272080
ICD10 via Orphanet 34 D58.2
UMLS 73 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 acute chest 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 blood coagulation GO:0007596 8.96 HBB HBD
2 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
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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