MCID: HMG028
MIFTS: 14

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 58
Hblepore-Beta-Thalassemia Syndrome 58
Lepore-Beta-Thalassemia Syndrome 58

Characteristics:

Orphanet epidemiological data:

58
hemoglobin lepore-beta-thalassemia syndrome
Inheritance: Autosomal recessive;

Classifications:

Orphanet: 58  
Rare haematological diseases


External Ids:

ICD10 via Orphanet 33 D56.8
Orphanet 58 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 HBB (Hemoglobin Subunit Beta), and among its related pathways/superpathways is Factors involved in megakaryocyte development and platelet production.

Related Diseases for Hemoglobin Lepore-Beta-Thalassemia Syndrome

Diseases related to Hemoglobin Lepore-Beta-Thalassemia Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 15)
# Related Disease Score Top Affiliating Genes
1 beta-thalassemia 9.8 HBD HBB
2 thalassemia 9.8 HBD HBB
3 middle lobe syndrome 9.8 HBD HBB
4 thalassemia minor 9.8 HBD HBB
5 hemoglobin d disease 9.8 HBD HBB
6 hemoglobin c disease 9.8 HBD HBB
7 neuropathy, hereditary sensory and autonomic, type iib 9.8 HBD HBB
8 hemoglobin e disease 9.7 HBD HBB
9 fetal hemoglobin quantitative trait locus 1 9.7 HBD HBB
10 blood protein disease 9.7 HBD HBB
11 hemoglobin h disease 9.7 HBD HBB
12 congenital hemolytic anemia 9.7 HBD HBB
13 sickle cell disease 9.6 HBD HBB
14 hemoglobinopathy 9.6 HBD HBB
15 alpha-thalassemia 9.5 HBD HBB

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 HBD HBB

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 HBD HBB
2 hemoglobin complex GO:0005833 8.96 HBD HBB
3 haptoglobin-hemoglobin complex GO:0031838 8.62 HBD HBB

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 9.26 HBD HBB
2 cellular oxidant detoxification GO:0098869 9.16 HBD HBB
3 hydrogen peroxide catabolic process GO:0042744 8.96 HBD HBB
4 oxygen transport GO:0015671 8.62 HBD HBB

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 HBD HBB
2 peroxidase activity GO:0004601 9.37 HBD HBB
3 oxygen binding GO:0019825 9.32 HBD HBB
4 oxygen carrier activity GO:0005344 9.26 HBD HBB
5 organic acid binding GO:0043177 9.16 HBD HBB
6 haptoglobin binding GO:0031720 8.96 HBD HBB
7 hemoglobin alpha binding GO:0031721 8.62 HBD HBB

Sources for Hemoglobin Lepore-Beta-Thalassemia Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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