MCID: HMG023
MIFTS: 16

Hemoglobin Lepore - Beta-Thalassemia malady

Blood diseases, Rare diseases categories

Aliases & Classifications for Hemoglobin Lepore - Beta-Thalassemia

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Sources:
48Orphanet, 26ICD10 via Orphanet
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Aliases & Descriptions for Hemoglobin Lepore - Beta-Thalassemia:

Name: Hemoglobin Lepore - Beta-Thalassemia 48
Hblepore - Beta-Thalassemia 48
 
Lepore - Beta-Thalassemia 48


Classifications:



Characteristics (Orphanet epidemiological data):

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


External Ids:

Orphanet48 330032
ICD10 via Orphanet26 D56.8

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.

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:
44Novoseek, 24HMDB, 28IUPHAR, 11DrugBank
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Compounds related to Hemoglobin Lepore - Beta-Thalassemia according to GeneCards Suite gene sharing:

idCompoundScoreTop Affiliating Genes
1oxygen44 2410.1HBB, HBD
2heme28 24 1110.8HBB, 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

Sources for Hemoglobin Lepore - Beta-Thalassemia

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2CDC
12ExPASy
13FDA
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet