MCID: HMG028
MIFTS: 16

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 59
Hblepore-Beta-Thalassemia Syndrome 59
Lepore-Beta-Thalassemia Syndrome 59

Characteristics:

Orphanet epidemiological data:

59
hemoglobin lepore-beta-thalassemia syndrome
Inheritance: Autosomal recessive;

Classifications:



External Ids:

Orphanet 59 ORPHA330032
ICD10 via Orphanet 34 D56.8

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 hemoglobin d disease and malignant secondary hypertension. 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

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

(show all 16)
# Related Disease Score Top Affiliating Genes
1 hemoglobin d disease 9.7 HBB HBD
2 malignant secondary hypertension 9.7 HBB HBD
3 hemoglobin e disease 9.7 HBB HBD
4 hemoglobin c disease 9.7 HBB HBD
5 osgood-schlatter's disease 9.7 HBB HBD
6 fetal hemoglobin quantitative trait locus 1 9.6 HBB HBD
7 kluver-bucy syndrome 9.6 HBB HBD
8 malignant essential hypertension 9.6 HBB HBD
9 pleuropneumonia 9.6 HBB HBD
10 hemoglobin h disease 9.6 HBB HBD
11 hemoglobinopathy 9.5 HBB HBD
12 sickle cell disease 9.5 HBB HBD
13 congenital hemolytic anemia 9.4 HBB HBD
14 autosomal genetic disease 9.3 HBB HBD
15 thalassemia 9.2 HBB HBD
16 beta-thalassemia 9.0 HBB HBD

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 8.96 HBB HBD
2 hemoglobin complex GO:0005833 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 8.96 HBB HBD
2 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 iron ion binding GO:0005506 9.26 HBB HBD
2 heme binding GO:0020037 9.16 HBB HBD
3 oxygen binding GO:0019825 8.96 HBB HBD
4 oxygen carrier activity GO:0005344 8.62 HBB HBD

Sources for Hemoglobin Lepore-Beta-Thalassemia Syndrome

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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