MCID: HMG004
MIFTS: 24

Hemoglobin D Disease

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

Aliases & Classifications for Hemoglobin D Disease

MalaCards integrated aliases for Hemoglobin D Disease:

Name: Hemoglobin D Disease 12 60 15 74
Hb-D Disease 12
Hemoglobin D 6

Characteristics:

Orphanet epidemiological data:

60
hemoglobin d disease
Age of onset: Childhood;

Classifications:



External Ids:

Disease Ontology 12 DOID:5378
NCIt 51 C35344
SNOMED-CT 69 66729008
ICD10 34 D58.2
ICD10 via Orphanet 35 D58.2
UMLS via Orphanet 75 C0272080
Orphanet 60 ORPHA90039
UMLS 74 C0272080

Summaries for Hemoglobin D Disease

MalaCards based summary : Hemoglobin D Disease, also known as hb-d disease, is related to thalassemia and hemoglobinopathy. 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

ClinVar genetic disease variations for Hemoglobin D Disease:

6 (show all 20)
# Gene Variation Type Significance SNP ID Assembly Location
1 HBB NM_000518.4(HBB): c.365A> T (p.Glu122Val) single nucleotide variant other rs33987957 GRCh37 Chromosome 11, 5246907: 5246907
2 HBB NM_000518.4(HBB): c.365A> T (p.Glu122Val) single nucleotide variant other rs33987957 GRCh38 Chromosome 11, 5225677: 5225677
3 HBB NM_000518.5(HBB): c.49G> C (p.Gly17Arg) single nucleotide variant other rs63751285 GRCh37 Chromosome 11, 5248203: 5248203
4 HBB NM_000518.5(HBB): c.49G> C (p.Gly17Arg) single nucleotide variant other rs63751285 GRCh38 Chromosome 11, 5226973: 5226973
5 HBB NM_000518.4(HBB): c.68A> T (p.Glu23Val) single nucleotide variant Uncertain significance rs33936254 GRCh37 Chromosome 11, 5248184: 5248184
6 HBB NM_000518.4(HBB): c.68A> T (p.Glu23Val) single nucleotide variant Uncertain significance rs33936254 GRCh38 Chromosome 11, 5226954: 5226954
7 HBB NM_000518.4(HBB): c.263C> A (p.Thr88Lys) single nucleotide variant Likely benign rs33993568 GRCh37 Chromosome 11, 5247859: 5247859
8 HBB NM_000518.4(HBB): c.263C> A (p.Thr88Lys) single nucleotide variant Likely benign rs33993568 GRCh38 Chromosome 11, 5226629: 5226629
9 HBB NM_000518.4(HBB): c.67G> C (p.Glu23Gln) single nucleotide variant Conflicting interpretations of pathogenicity, other rs33959855 GRCh37 Chromosome 11, 5248185: 5248185
10 HBB NM_000518.4(HBB): c.67G> C (p.Glu23Gln) single nucleotide variant Conflicting interpretations of pathogenicity, other rs33959855 GRCh38 Chromosome 11, 5226955: 5226955
11 HBB NM_000518.4(HBB): c.364G> C (p.Glu122Gln) single nucleotide variant Conflicting interpretations of pathogenicity, other rs33946267 GRCh37 Chromosome 11, 5246908: 5246908
12 HBB NM_000518.4(HBB): c.364G> C (p.Glu122Gln) single nucleotide variant Conflicting interpretations of pathogenicity, other rs33946267 GRCh38 Chromosome 11, 5225678: 5225678
13 HBB NM_000518.5(HBB): c.60C> A (p.Asn20Lys) single nucleotide variant other rs63750840 GRCh37 Chromosome 11, 5248192: 5248192
14 HBB NM_000518.5(HBB): c.60C> A (p.Asn20Lys) single nucleotide variant other rs63750840 GRCh38 Chromosome 11, 5226962: 5226962
15 HBB NM_000518.4(HBB): c.365A> C (p.Glu122Ala) single nucleotide variant other rs33987957 GRCh37 Chromosome 11, 5246907: 5246907
16 HBB NM_000518.4(HBB): c.365A> C (p.Glu122Ala) single nucleotide variant other rs33987957 GRCh38 Chromosome 11, 5225677: 5225677
17 HBB NM_000518.4(HBB): c.29C> A (p.Ser10Tyr) single nucleotide variant other rs33918131 GRCh37 Chromosome 11, 5248223: 5248223
18 HBB NM_000518.4(HBB): c.29C> A (p.Ser10Tyr) single nucleotide variant other rs33918131 GRCh38 Chromosome 11, 5226993: 5226993
19 HBA2 NP_000508.1: p.Asn69Lys single nucleotide variant other rs111033601 GRCh37 Chromosome 16, 223235: 223235
20 HBA2 NP_000508.1: p.Asn69Lys single nucleotide variant other rs111033601 GRCh38 Chromosome 16, 173236: 173236

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 9.16 HBB HBD
2 hemoglobin complex GO:0005833 9.13 HBB HBD HBQ1
3 haptoglobin-hemoglobin complex GO:0031838 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 cellular oxidant detoxification GO:0098869 9.43 HBB HBD HBQ1
2 protein heterooligomerization GO:0051291 9.33 HBB HBD HBQ1
3 blood coagulation GO:0007596 9.32 HBB HBD
4 hydrogen peroxide catabolic process GO:0042744 9.13 HBB HBD HBQ1
5 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 heme binding GO:0020037 9.58 HBB HBD HBQ1
2 oxygen binding GO:0019825 9.5 HBB HBD HBQ1
3 peroxidase activity GO:0004601 9.43 HBB HBD HBQ1
4 hemoglobin alpha binding GO:0031721 9.37 HBB HBD
5 oxygen carrier activity GO:0005344 9.33 HBB HBD HBQ1
6 organic acid binding GO:0043177 9.13 HBB HBD HBQ1
7 haptoglobin binding GO:0031720 8.8 HBB HBD HBQ1

Sources for Hemoglobin D Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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