MCID: HMG023
MIFTS: 18

Hemoglobin Lepore - Beta-Thalassemia malady

Blood diseases category

Summaries for Hemoglobin Lepore - Beta-Thalassemia

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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

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48Orphanet, 26ICD10 via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

48
hemoglobin lepore - beta-thalassemia:
Inheritance: Autosomal recessive


Aliases & Descriptions:

hemoglobin lepore - beta-thalassemia 48
hblepore - beta-thalassemia 48
lepore - beta-thalassemia 48


External Ids:

ICD10 via Orphanet26 D56.1

Related Diseases for Hemoglobin Lepore - Beta-Thalassemia

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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
5alpha thalassemia10.0HBB, 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

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Drugs & Therapeutics for Hemoglobin Lepore - Beta-Thalassemia

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Sources:
5CenterWatch, 41NIH 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

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Anatomical Context for Hemoglobin Lepore - Beta-Thalassemia

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

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Publications for Hemoglobin Lepore - Beta-Thalassemia

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Genetic Variations for Hemoglobin Lepore - Beta-Thalassemia

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Expression for genes affiliated with Hemoglobin Lepore - Beta-Thalassemia

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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

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53Reactome
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Pathways related to Hemoglobin Lepore - Beta-Thalassemia according to GeneCards/GeneDecks:

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

Compounds for genes affiliated with Hemoglobin Lepore - Beta-Thalassemia

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Sources:
44Novoseek, 24HMDB, 28IUPHAR, 11DrugBank
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Compounds related to Hemoglobin Lepore - Beta-Thalassemia according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1oxygen44 2410.1HBB, HBD
2heme28 11 2410.8HBB, HBD

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

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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

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Hemoglobin Lepore - Beta-Thalassemia

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet