MCID: HMG023
MIFTS: 18

Hemoglobin Lepore - Beta-Thalassemia malady

Blood diseases, Rare diseases categories

Summaries for Hemoglobin Lepore - Beta-Thalassemia

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MalaCards: Hemoglobin Lepore - Beta-Thalassemia, also known as hblepore - beta-thalassemia, is related to hereditary persistence of fetal hemoglobin and sickle cell anemia. An important gene associated with Hemoglobin Lepore - Beta-Thalassemia is HBB (hemoglobin, beta), and among its related pathways are Hemostasis 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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50Orphanet, 27ICD10 via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

50
hemoglobin lepore - beta-thalassemia:
Inheritance: Autosomal recessive


Aliases & Descriptions:

hemoglobin lepore - beta-thalassemia 50
hblepore - beta-thalassemia 50
lepore - beta-thalassemia 50


External Ids:

ICD10 via Orphanet27 D56.1

Related Diseases for Hemoglobin Lepore - Beta-Thalassemia

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18GeneCards, 19GeneDecks
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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
1hereditary persistence of fetal hemoglobin10.0HBB
2sickle cell anemia10.0HBB, HBD
3deficiency anemia10.0HBB, HBD
4alpha thalassemia10.0HBB, HBD
5sickle cell disease9.9HBB, HBD

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



Diseases related to hemoglobin lepore - beta-thalassemia

Symptoms for Hemoglobin Lepore - Beta-Thalassemia

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Drugs & Therapeutics for Hemoglobin Lepore - Beta-Thalassemia

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

Search CenterWatch for Hemoglobin Lepore - Beta-Thalassemia

Drug clinical trials:

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Search NIH Clinical Center for Hemoglobin Lepore - Beta-Thalassemia

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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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Variations for Hemoglobin Lepore - Beta-Thalassemia

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Expression for genes affiliated with Hemoglobin Lepore - Beta-Thalassemia

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2BioGPS, 16Gene 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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51PathCards, 56Reactome
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Compounds for genes affiliated with Hemoglobin Lepore - Beta-Thalassemia

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46Novoseek, 25HMDB, 30IUPHAR, 12DrugBank
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Compounds related to Hemoglobin Lepore - Beta-Thalassemia according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1oxygen46 2510.1HBB, HBD
2heme30 25 1210.8HBB, HBD

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

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17Gene Ontology
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Cellular components related to Hemoglobin Lepore - Beta-Thalassemia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1blood microparticleGO:0725629.1HBB, HBD
2hemoglobin complexGO:0058338.8HBB, 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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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet