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:
51Orphanet, 28ICD10 via Orphanet
See all sources

Aliases & Descriptions for Hemoglobin Lepore - Beta-Thalassemia:

Name: Hemoglobin Lepore - Beta-Thalassemia 51
Hblepore - Beta-Thalassemia 51
 
Lepore - Beta-Thalassemia 51


Classifications:



Characteristics (Orphanet epidemiological data):

51
hemoglobin lepore - beta-thalassemia:
Inheritance: Autosomal recessive


External Ids:

Orphanet51 330032
ICD10 via Orphanet28 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 hypotrichosis-deafness syndrome and skin pilomatrix carcinoma. An important gene associated with Hemoglobin Lepore - Beta-Thalassemia is HBD (Hemoglobin, Delta), and among its related pathways are Hemostasis and Factors involved in megakaryocyte development and platelet production.

Related Diseases for Hemoglobin Lepore - Beta-Thalassemia

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Graphical network of the top 20 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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Interventional clinical trials:

Search ClinicalTrials, 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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Pathways related to Hemoglobin Lepore - Beta-Thalassemia according to GeneCards Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.1HBB, HBD
29.1HBB, 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
1hemoglobin complexGO:00058339.4HBB, HBD
2blood microparticleGO:00725629.1HBB, HBD

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

idNameGO IDScoreTop Affiliating Genes
1oxygen transportGO:00156719.7HBB, HBD
2blood 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:00053449.7HBB, HBD
2iron ion bindingGO:00055069.2HBB, HBD
3oxygen bindingGO:00198259.2HBB, HBD
4heme bindingGO:00200379.1HBB, HBD

Sources for Hemoglobin Lepore - Beta-Thalassemia

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet