MCID: HMG023
MIFTS: 13

Hemoglobin Lepore - Beta-Thalassemia malady

Blood category

Summaries for Hemoglobin Lepore - Beta-Thalassemia

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33MalaCards
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MalaCards: Hemoglobin Lepore - Beta-Thalassemia, also known as hblepore - beta-thalassemia, is related to malaria and sickle cell anemia. An important gene associated with Hemoglobin Lepore - Beta-Thalassemia is HBB (hemoglobin, beta), and among its related pathways are Platelet activation, signaling and aggregation and Factors involved in megakaryocyte development and platelet production. The compounds oxygen and heme have been mentioned in the context of this disorder.

Aliases & Classifications for Hemoglobin Lepore - Beta-Thalassemia

Sources:
49Orphanet, 26ICD10 via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Blood


Characteristics (Orphanet epidemiological data):

49
hemoglobin lepore - beta-thalassemia:
Inheritance: Autosomal recessive


Aliases & Descriptions:

hemoglobin lepore - beta-thalassemia 49
hblepore - beta-thalassemia 49
lepore - beta-thalassemia 49


External Ids:

ICD10 via Orphanet26 D56.1

Related Diseases for Hemoglobin Lepore - Beta-Thalassemia

Sources:
17GeneCards, 18GeneDecks
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Diseases related to Hemoglobin Lepore - Beta-Thalassemia via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1malaria10.0HBB
2sickle cell anemia10.0HBB, HBD
3sickle cell disease10.0HBB, HBD
4deficiency anemia10.0HBB, HBD
5thalassemia10.0HBB, HBD

Graphical network of diseases related to Hemoglobin Lepore - Beta-Thalassemia:



Diseases related to hemoglobin lepore - beta-thalassemia

Clinical Features for Hemoglobin Lepore - Beta-Thalassemia

Drugs & Therapeutics for Hemoglobin Lepore - Beta-Thalassemia

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Hemoglobin Lepore - Beta-Thalassemia

Drug clinical trials:

Search ClinicalTrials for Hemoglobin Lepore - Beta-Thalassemia

Search NIH Clinical Center for Hemoglobin Lepore - Beta-Thalassemia

Search CenterWatch for Hemoglobin Lepore - Beta-Thalassemia

Genetic Tests for Hemoglobin Lepore - Beta-Thalassemia

Anatomical Context for Hemoglobin Lepore - Beta-Thalassemia

Animal Models for Hemoglobin Lepore - Beta-Thalassemia or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Hemoglobin Lepore - Beta-Thalassemia

Sources:
51PubMed
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Articles related to Hemoglobin Lepore - Beta-Thalassemia:

idTitleAuthorsYear
1
A novel delta beta fusion gene expresses hemoglobin A (HbA) not Hb Lepore: Senegalese delta(0)beta(+) thalassemia. (11493481)
2001

Genetic Variations for Hemoglobin Lepore - Beta-Thalassemia

Expression for genes affiliated with Hemoglobin Lepore - Beta-Thalassemia

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Hemoglobin Lepore - Beta-Thalassemia

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

Pathways for genes affiliated with Hemoglobin Lepore - Beta-Thalassemia

Sources:
54Reactome
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Pathways related to Hemoglobin Lepore - Beta-Thalassemia according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
9.1HBB, HBD
29.1HBB, HBD

Compounds for genes affiliated with Hemoglobin Lepore - Beta-Thalassemia

Sources:
45Novoseek, 24HMDB, 29IUPHAR, 11DrugBank
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Compounds related to Hemoglobin Lepore - Beta-Thalassemia according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1oxygen45 2410.1HBB, HBD
2heme29 11 2410.8HBB, HBD

GO Terms for genes affiliated with Hemoglobin Lepore - Beta-Thalassemia

Sources:
16Gene Ontology
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Cellular components related to Hemoglobin Lepore - Beta-Thalassemia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1hemoglobin complexGO:0058339.1HBB, HBD

Biological processes related to Hemoglobin Lepore - Beta-Thalassemia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1blood coagulationGO:0075969.1HBB, HBD

Molecular functions related to Hemoglobin Lepore - Beta-Thalassemia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1oxygen transporter activityGO:0053449.1HBB, HBD
2iron ion bindingGO:0055069.1HBB, HBD
3oxygen bindingGO:0198259.0HBB, HBD
4heme bindingGO:0200378.8HBB, HBD

Products for genes affiliated with Hemoglobin Lepore - Beta-Thalassemia

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Hemoglobin Lepore - Beta-Thalassemia

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet