MCID: HMG023
MIFTS: 16

Hemoglobin Lepore - Beta-Thalassemia malady

Blood diseases, Rare diseases categories

Summaries for Hemoglobin Lepore - Beta-Thalassemia

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MalaCards based summary: Hemoglobin Lepore - Beta-Thalassemia, also known as hblepore - beta-thalassemia, is related to fetal hemoglobin quantitative trait locus 1 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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Sources:
47Orphanet, 26ICD10 via Orphanet
See all sources

Hemoglobin Lepore - Beta-Thalassemia, Aliases & Descriptions:

Name: Hemoglobin Lepore - Beta-Thalassemia 47
Hblepore - Beta-Thalassemia 47
 
Lepore - Beta-Thalassemia 47


Classifications:

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


Characteristics (Orphanet epidemiological data):

47
hemoglobin lepore - beta-thalassemia:
Inheritance: Autosomal recessive


External Ids:

Orphanet47 330032
ICD10 via Orphanet26 D56.8

Related Diseases for Hemoglobin Lepore - Beta-Thalassemia

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

idRelated DiseaseScoreTop Affiliating Genes
1fetal hemoglobin quantitative trait locus 110.1HBB
2sickle cell anemia9.9HBB, HBD
3deficiency anemia9.9HBB, HBD
4thalassemia9.8HBB, HBD
5sickle cell disease9.7HBB, 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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Drug clinical trials:

Search ClinicalTrials for Hemoglobin Lepore - Beta-Thalassemia

Search NIH Clinical Center 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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Variations for Hemoglobin Lepore - Beta-Thalassemia

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Expression for genes affiliated with Hemoglobin Lepore - Beta-Thalassemia

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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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Compounds for genes affiliated with Hemoglobin Lepore - Beta-Thalassemia

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Sources:
43Novoseek, 24HMDB, 28IUPHAR, 12DrugBank
See all sources

Compounds related to Hemoglobin Lepore - Beta-Thalassemia according to GeneCards Suite gene sharing:

idCompoundScoreTop Affiliating Genes
1oxygen43 2410.1HBB, HBD
2heme28 24 1210.8HBB, HBD

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

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Cellular components related to Hemoglobin Lepore - Beta-Thalassemia according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1blood microparticleGO:00725629.1HBB, HBD
2hemoglobin complexGO:00058338.8HBB, HBD

Biological processes related to Hemoglobin Lepore - Beta-Thalassemia according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1blood coagulationGO:00075969.1HBB, HBD

Molecular functions related to Hemoglobin Lepore - Beta-Thalassemia according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1oxygen transporter activityGO:00053449.1HBB, HBD
2iron ion bindingGO:00055069.1HBB, HBD
3oxygen bindingGO:00198259.0HBB, HBD
4heme bindingGO:00200378.8HBB, HBD

Products for genes affiliated with Hemoglobin Lepore - Beta-Thalassemia

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Hemoglobin Lepore - Beta-Thalassemia

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet