Home
User Guide
What's in a MalaCard Search Guide Our Sources
Analysis Tools
GeneCards GeneAnalytics GeneAlaCart PathCards VarElect TGex
News and Views Disease Lists/Categories
About
About MalaCards Our Publications Weizmann Institute LifeMap Discovery® Terms of Use MalaCards Team
MCID: HMG004
MIFTS: 25

Hemoglobin D Disease

Categories: Blood diseases, Endocrine diseases, Genetic diseases, Rare diseases
Genes Variations Related diseases Publications Pathways
Sources

Aliases & Classifications for Hemoglobin D Disease

About this section

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:

MalaCards categories:
Global: Rare diseases Genetic diseases
Anatomical: Blood diseases Endocrine diseases
See all MalaCards categories (disease lists)
ICD10: 33 34
Orphanet: 59  
Rare haematological diseases


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
Sources

Summaries for Hemoglobin D Disease

About this section
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.

Sources

Related Diseases for Hemoglobin D Disease

About this section

Diseases in the Hemoglobin H Disease family:

Hemoglobin C Disease Hemoglobin D Disease
Hemoglobin E Disease Hemoglobin Se Disease

Diseases related to Hemoglobin D Disease via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 24)
# Related Disease Score Top Affiliating Genes
1 thalassemia 29.9 HBB HBD
2 hemoglobinopathy 29.7 HBB HBD
3 sickle cell - hemoglobin d disease 12.5
4 hemoglobin lepore-beta-thalassemia syndrome 9.9 HBB HBD
5 beta-thalassemia 9.9 HBB HBD
6 malignant secondary hypertension 9.9 HBB HBD
7 hemoglobin c disease 9.9 HBB HBD
8 hemoglobin e disease 9.9 HBB HBD
9 osgood-schlatter's disease 9.9 HBB HBD
10 fetal hemoglobin quantitative trait locus 1 9.9 HBB HBD
11 kluver-bucy syndrome 9.8 HBB HBD
12 malignant essential hypertension 9.8 HBB HBD
13 blind loop syndrome 9.8 HBB HBD
14 pleuropneumonia 9.8 HBB HBD
15 blood protein disease 9.8 HBB HBD
16 alpha thalassemia-intellectual disability syndrome type 1 9.8 HBB HBD
17 hemoglobin h disease 9.8 HBB HBD
18 acute chest syndrome 9.8
19 sickle cell disease 9.8 HBB HBD
20 hypophosphatemic bone disease 9.7
21 nuclear ribonucleic acid 9.7
22 alpha-thalassemia 9.7
23 congenital hemolytic anemia 9.7 HBB HBD
24 autosomal genetic disease 9.6 HBB HBD

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



Diseases related to Hemoglobin D Disease
Sources

Symptoms & Phenotypes for Hemoglobin D Disease

About this section
Sources

Drugs & Therapeutics for Hemoglobin D Disease

About this section

Search Clinical Trials , NIH Clinical Center for Hemoglobin D Disease

Sources

Genetic Tests for Hemoglobin D Disease

About this section
Sources

Anatomical Context for Hemoglobin D Disease

About this section
Sources

Publications for Hemoglobin D Disease

About this section

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
Sources

Variations for Hemoglobin D Disease

About this section

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_000518.4(HBB): c.49G> C (p.Gly17Arg) single nucleotide variant other rs63751285 GRCh37 Chromosome 11, 5248203: 5248203
4 HBB NM_000518.4(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 other rs33936254 GRCh37 Chromosome 11, 5248184: 5248184
6 HBB NM_000518.4(HBB): c.68A> T (p.Glu23Val) single nucleotide variant other 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_000518.4(HBB): c.60C> A (p.Asn20Lys) single nucleotide variant other rs63750840 GRCh37 Chromosome 11, 5248192: 5248192
14 HBB NM_000518.4(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
Sources

Expression for Hemoglobin D Disease

About this section
Search GEO for disease gene expression data for Hemoglobin D Disease.
Sources

Pathways for Hemoglobin D Disease

About this section

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

# Super pathways Score Top Affiliating Genes
1
Factors involved in megakaryocyte development and platelet production 66
10.82 HBB HBD
Sources

GO Terms for Hemoglobin D Disease

About this section

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

Sources for Hemoglobin D Disease

About this section
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
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
Content
Loading form....