MCID: HRD111
MIFTS: 24

Hereditary Persistence of Fetal Hemoglobin - Sickle Cell Disease malady

Blood diseases, Rare diseases categories
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Summaries for Hereditary Persistence of Fetal Hemoglobin - Sickle Cell Disease

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MalaCards based summary: Hereditary Persistence of Fetal Hemoglobin - Sickle Cell Disease, also known as fetal hemoglobin quantitative trait locus 1, is related to malaria and methemoglobinemia. An important gene associated with Hereditary Persistence of Fetal Hemoglobin - Sickle Cell Disease is KLF1 (Kruppel-like factor 1 (erythroid)), and among its related pathways are p70S6K Signaling and ErbB4 Pathway. The compounds dimethyl sulfate and benzidine have been mentioned in the context of this disorder.

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

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Sources:
62UMLS, 48Orphanet, 26ICD10 via Orphanet
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Hereditary Persistence of Fetal Hemoglobin - Sickle Cell Disease, Aliases & Descriptions:

Name: Hereditary Persistence of Fetal Hemoglobin - Sickle Cell Disease 48
Fetal Hemoglobin Quantitative Trait Locus 1 62
 
Hpfh - Sickle Cell Disease 48


Classifications:

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


Characteristics (Orphanet epidemiological data):

48
hereditary persistence of fetal hemoglobin - sickle cell disease:
Inheritance: Autosomal recessive; Age of onset: Variable


External Ids:

ICD10 via Orphanet26 D57.2

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

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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 13)
idRelated DiseaseScoreTop Affiliating Genes
1malaria10.2HBB
2methemoglobinemia10.1HBG2
3hereditary persistence of fetal hemoglobin10.1KLF1, HBB
4alpha thalassemia10.0HBG1, HBB
5fetal hemoglobin quantitative trait locus 19.9HBG2, HBG1
6sickle cell anemia9.9HBG2, HBB
7hemoglobinopathy9.8HBB, HBG1, KLF1
8hemolytic anemia9.8HBB, HBG2
9acute erythroid leukemia9.8HBB, HBG1, KLF1
10sickle cell disease9.7HBG1, HBG2, HBB
11pre-eclampsia9.7HBG2, HBB
12beta thalassemia9.5HBG1, KLF1, HBG2, HBB
13deficiency anemia9.5HBG1, HBG2, HBB, KLF1

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

Symptoms for Hereditary Persistence of Fetal Hemoglobin - Sickle Cell Disease

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

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Drug clinical trials:

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

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

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

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Publications for Hereditary Persistence of Fetal Hemoglobin - Sickle Cell Disease

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Variations for Hereditary Persistence of Fetal Hemoglobin - Sickle Cell Disease

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

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

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Sources:
44Novoseek, 24HMDB, 11DrugBank, 2BitterDB, 50PharmGKB, 28IUPHAR
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Compounds related to Hereditary Persistence of Fetal Hemoglobin - Sickle Cell Disease according to GeneCards/GeneDecks:

(show all 21)
idCompoundScoreTop Affiliating Genes
1dimethyl sulfate449.6HBG1, HBB
2benzidine449.6HBB, HBG1
3porphobilinogen44 24 1111.6HBB, HBG1
4propionate449.6HBG1, HBB
55-aminolevulinic acid44 2410.6HBG1, HBB
6neomycin449.6HBB, HBG1
7azathioprine44 2 50 1112.4HBG1, HBB
8de-oxy449.4HBB, HBG2
9s-nitrosocysteine449.4HBG2, HBB
1023-diphosphoglycerate449.3HBB, HBG2
11glyceraldehyde 3-phosphate449.3HBB, HBG1
12butyrate449.3HBB, HBG1
13polyacrylamide449.2HBG1, HBB
14glucose 6-phosphate44 2410.2HBB, HBG2
15zinc44 2410.0KLF1, HBB, HBG1
16hydroxyurea44 50 1110.9HBB, HBG2, HBG1
17heme28 24 1110.8HBB, HBG2, HBG1
18iron44 249.8HBB, HBG2, HBG1
19histidine448.7HBB, HBG2
20nitric oxide44 24 1110.7HBG1, HBG2, HBB
21oxygen44 249.6HBB, HBG2, HBG1

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

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

idNameGO IDScoreTop Affiliating Genes
1blood microparticleGO:0725629.0HBB, HBG2
2hemoglobin complexGO:0058338.2HBB, HBG2, HBG1

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

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

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

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

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

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  • Antibodies
  • Proteins
  • Lysates

Sources for Hereditary Persistence of Fetal Hemoglobin - Sickle Cell Disease

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet