MCID: HRD111
MIFTS: 20

Hereditary Persistence of Fetal Hemoglobin - Sickle Cell Disease malady

Blood category

Summaries for Hereditary Persistence of Fetal Hemoglobin - Sickle Cell Disease

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33MalaCards
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MalaCards: Hereditary Persistence of Fetal Hemoglobin - Sickle Cell Disease, also known as fetal hemoglobin quantitative trait locus 1, is related to fetal hemoglobin quantitative trait locus 1 and hereditary persistence of fetal hemoglobin. An important gene associated with Hereditary Persistence of Fetal Hemoglobin - Sickle Cell Disease 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 de-oxy and s-nitrosocysteine have been mentioned in the context of this disorder.

Aliases & Classifications for Hereditary Persistence of Fetal Hemoglobin - Sickle Cell Disease

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61UMLS, 49Orphanet, 26ICD10 via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

49
hereditary persistence of fetal hemoglobin - sickle cell disease:
Inheritance: Autosomal recessive; Age of onset: Variable


Aliases & Descriptions:

hereditary persistence of fetal hemoglobin - sickle cell disease 49
fetal hemoglobin quantitative trait locus 1 61
hpfh - sickle cell disease 49


External Ids:

ICD10 via Orphanet26 D57.2

Related Diseases for Hereditary Persistence of Fetal Hemoglobin - Sickle Cell Disease

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17GeneCards, 18GeneDecks
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Diseases related to Hereditary Persistence of Fetal Hemoglobin - Sickle Cell Disease via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 14)
idRelated DiseaseScoreTop Affiliating Genes
1fetal hemoglobin quantitative trait locus 131.0HBG1, HBG2
2hereditary persistence of fetal hemoglobin30.6KLF1
3methemoglobinemia10.0HBG2
4sickle cell anemia10.0HBG2, HBB
5pre-eclampsia10.0HBG2, HBB
6alpha thalassemia10.0HBB, HBG1
7hemolytic anemia10.0HBB, HBG2
8leukemia10.0HBB, KLF1
9hemoglobinopathy10.0KLF1, HBG1, HBB
10acute erythroid leukemia10.0KLF1, HBG1, HBB
11sickle cell disease10.0HBG2, HBB, HBG1
12beta thalassemia10.0HBG2, HBB, HBG1, KLF1
13thalassemia10.0HBG2, HBB, HBG1, KLF1
14deficiency anemia10.0KLF1, HBG1, HBB, HBG2

Graphical network of diseases related to Hereditary Persistence of Fetal Hemoglobin - Sickle Cell Disease:



Diseases related to hereditary persistence of fetal hemoglobin - sickle cell disease

Clinical Features for Hereditary Persistence of Fetal Hemoglobin - Sickle Cell Disease

Drugs & Therapeutics for Hereditary Persistence of Fetal Hemoglobin - Sickle Cell Disease

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5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Hereditary Persistence of Fetal Hemoglobin - Sickle Cell Disease

Anatomical Context for Hereditary Persistence of Fetal Hemoglobin - Sickle Cell Disease

Animal Models for Hereditary Persistence of Fetal Hemoglobin - Sickle Cell Disease or affiliated genes

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28inGenious Targeting Laboratory
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Publications for Hereditary Persistence of Fetal Hemoglobin - Sickle Cell Disease

Genetic Variations for Hereditary Persistence of Fetal Hemoglobin - Sickle Cell Disease

Expression for genes affiliated with Hereditary Persistence of Fetal Hemoglobin - Sickle Cell Disease

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Hereditary Persistence of Fetal Hemoglobin - Sickle Cell Disease

Search GEO for disease gene expression data for Hereditary Persistence of Fetal Hemoglobin - Sickle Cell Disease.

Pathways for genes affiliated with Hereditary Persistence of Fetal Hemoglobin - Sickle Cell Disease

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54Reactome
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Pathways related to Hereditary Persistence of Fetal Hemoglobin - Sickle Cell Disease according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
8.5HBG2, HBB, HBG1
28.5HBG2, HBB, HBG1

Compounds for genes affiliated with Hereditary Persistence of Fetal Hemoglobin - Sickle Cell Disease

Sources:
45Novoseek, 24HMDB, 11DrugBank, 50PharmGKB, 2BitterDB, 29IUPHAR
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Compounds related to Hereditary Persistence of Fetal Hemoglobin - Sickle Cell Disease according to GeneCards/GeneDecks:

(show all 19)
idCompoundScoreTop Affiliating Genes
1de-oxy459.7HBG2, HBB
2s-nitrosocysteine459.6HBB, HBG2
323-diphosphoglycerate459.6HBG2, HBB
4glucose 6-phosphate45 2410.5HBG2, HBB
5dimethyl sulfate459.4HBB, HBG1
6benzidine459.4HBB, HBG1
7porphobilinogen45 11 2411.4HBG1, HBB
8propionate459.4HBB, HBG1
95-aminolevulinic acid45 2410.4HBB, HBG1
10neomycin459.3HBB, HBG1
11azathioprine45 50 2 1112.1HBB, HBG1
12polyacrylamide459.1HBB, HBG1
13hydroxyurea45 50 1110.8HBG2, HBB, HBG1
14glyceraldehyde 3-phosphate458.8HBB, HBG1
15heme29 11 2410.8HBG1, HBB, HBG2
16zinc45 249.7HBB, HBG1, KLF1
17iron45 249.7HBG1, HBB, HBG2
18nitric oxide45 11 2410.6HBG1, HBB, HBG2
19oxygen45 249.4HBG1, HBB, HBG2

GO Terms for genes affiliated with Hereditary Persistence of Fetal Hemoglobin - Sickle Cell Disease

Sources:
16Gene Ontology
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Cellular components related to Hereditary Persistence of Fetal Hemoglobin - Sickle Cell Disease according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1hemoglobin complexGO:0058338.5HBG2, HBB, HBG1

Biological processes related to Hereditary Persistence of Fetal Hemoglobin - Sickle Cell Disease according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1blood coagulationGO:0075968.5HBG2, HBB, HBG1

Molecular functions related to Hereditary Persistence of Fetal Hemoglobin - Sickle Cell Disease according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1oxygen transporter activityGO:0053448.5HBG2, HBB, HBG1
2iron ion bindingGO:0055068.5HBG2, HBB, HBG1
3oxygen bindingGO:0198258.4HBG2, HBB, HBG1
4heme bindingGO:0200378.2HBG1, HBB, HBG2

Products for genes affiliated with Hereditary Persistence of Fetal Hemoglobin - Sickle Cell Disease

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Hereditary Persistence of Fetal Hemoglobin - Sickle Cell Disease

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet