MCID: HMG028
MIFTS: 17

Hemoglobin Lepore-Beta-Thalassemia Syndrome

Categories: Blood diseases, Rare diseases

Aliases & Classifications for Hemoglobin Lepore-Beta-Thalassemia Syndrome

MalaCards integrated aliases for Hemoglobin Lepore-Beta-Thalassemia Syndrome:

Name: Hemoglobin Lepore-Beta-Thalassemia Syndrome 60
Hblepore-Beta-Thalassemia Syndrome 60
Lepore-Beta-Thalassemia Syndrome 60

Characteristics:

Orphanet epidemiological data:

60
hemoglobin lepore-beta-thalassemia syndrome
Inheritance: Autosomal recessive;

Classifications:



External Ids:

ICD10 via Orphanet 35 D56.8
Orphanet 60 ORPHA330032

Summaries for Hemoglobin Lepore-Beta-Thalassemia Syndrome

MalaCards based summary : Hemoglobin Lepore-Beta-Thalassemia Syndrome, also known as hblepore-beta-thalassemia syndrome, is related to beta-thalassemia and thalassemia. An important gene associated with Hemoglobin Lepore-Beta-Thalassemia Syndrome is HBD (Hemoglobin Subunit Delta), and among its related pathways/superpathways is Factors involved in megakaryocyte development and platelet production.

Related Diseases for Hemoglobin Lepore-Beta-Thalassemia Syndrome

Graphical network of the top 20 diseases related to Hemoglobin Lepore-Beta-Thalassemia Syndrome:



Diseases related to Hemoglobin Lepore-Beta-Thalassemia Syndrome

Symptoms & Phenotypes for Hemoglobin Lepore-Beta-Thalassemia Syndrome

Drugs & Therapeutics for Hemoglobin Lepore-Beta-Thalassemia Syndrome

Search Clinical Trials , NIH Clinical Center for Hemoglobin Lepore-Beta-Thalassemia Syndrome

Genetic Tests for Hemoglobin Lepore-Beta-Thalassemia Syndrome

Anatomical Context for Hemoglobin Lepore-Beta-Thalassemia Syndrome

Publications for Hemoglobin Lepore-Beta-Thalassemia Syndrome

Variations for Hemoglobin Lepore-Beta-Thalassemia Syndrome

Expression for Hemoglobin Lepore-Beta-Thalassemia Syndrome

Search GEO for disease gene expression data for Hemoglobin Lepore-Beta-Thalassemia Syndrome.

Pathways for Hemoglobin Lepore-Beta-Thalassemia Syndrome

Pathways related to Hemoglobin Lepore-Beta-Thalassemia Syndrome according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.82 HBB HBD

GO Terms for Hemoglobin Lepore-Beta-Thalassemia Syndrome

Cellular components related to Hemoglobin Lepore-Beta-Thalassemia Syndrome 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 8.96 HBB HBD
3 haptoglobin-hemoglobin complex GO:0031838 8.62 HBB HBD

Biological processes related to Hemoglobin Lepore-Beta-Thalassemia Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 blood coagulation GO:0007596 9.32 HBB HBD
2 cellular oxidant detoxification GO:0098869 9.26 HBB HBD
3 protein heterooligomerization GO:0051291 9.16 HBB HBD
4 hydrogen peroxide catabolic process GO:0042744 8.96 HBB HBD
5 oxygen transport GO:0015671 8.62 HBB HBD

Molecular functions related to Hemoglobin Lepore-Beta-Thalassemia Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 heme binding GO:0020037 9.4 HBB HBD
2 oxygen binding GO:0019825 9.37 HBB HBD
3 peroxidase activity GO:0004601 9.32 HBB HBD
4 oxygen carrier activity GO:0005344 9.26 HBB HBD
5 organic acid binding GO:0043177 9.16 HBB HBD
6 haptoglobin binding GO:0031720 8.96 HBB HBD
7 hemoglobin alpha binding GO:0031721 8.62 HBB HBD

Sources for Hemoglobin Lepore-Beta-Thalassemia Syndrome

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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