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: 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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62UMLS, 49Orphanet, 26ICD10 via Orphanet
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Classifications:

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


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 62
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 13)
idRelated DiseaseScoreTop Affiliating Genes
1malaria10.0HBB
2methemoglobinemia10.0HBG2
3hereditary persistence of fetal hemoglobin10.0KLF1, HBB
4sickle cell anemia10.0HBB, HBG1
5alpha thalassemia10.0HBB, HBG1
6fetal hemoglobin quantitative trait locus 110.0HBG2, HBG1
7hemoglobinopathy10.0HBG1, HBB, KLF1
8hemolytic anemia9.9HBB, HBG2
9acute erythroid leukemia9.9HBG1, HBB, KLF1
10sickle cell disease9.9HBG1, HBG2, HBB
11pre-eclampsia9.9HBB, HBG2
12beta thalassemia9.9HBG1, HBG2, HBB, KLF1
13deficiency anemia9.9HBG1, 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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42NIH Clinical Center, 6ClinicalTrials
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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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1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Hereditary Persistence of Fetal Hemoglobin - Sickle Cell Disease:

1
id Gene Name Type Significance SNP ID Assembly Location
1HBG2NM_000184.2(HBG2): c.-255C> Gsingle nucleotide variantPathogenicrs35617911GRCh37Chr 11, 5276213: 5276213
2HBG2NM_000184.2(HBG2): c.-228T> Csingle nucleotide variantPathogenicrs63750654GRCh37Chr 11, 5276186: 5276186
3HBG2NM_000184.2(HBG2): c.-167C> Tsingle nucleotide variantPathogenicrs34809449GRCh37Chr 11, 5276125: 5276125
4HBG2NM_000184.2(HBG2): c.-167C> Asingle nucleotide variantPathogenicrs34809449GRCh37Chr 11, 5276125: 5276125
5HBG1NM_000559.2(HBG1): c.-170G> Asingle nucleotide variantPathogenicrs35378915GRCh37Chr 11, 5271204: 5271204
6HBG1NM_000559.2(HBG1): c.-251T> Csingle nucleotide variantPathogenicrs35710727GRCh37Chr 11, 5271285: 5271285
7HBG1NM_000559.2(HBG1): c.-53-196C> Tsingle nucleotide variantPathogenicrs35983258GRCh37Chr 11, 5271283: 5271283
8HBG1NM_000559.2(HBG1): c.-53-195C> Gsingle nucleotide variantPathogenicrs35321913GRCh37Chr 11, 5271282: 5271282
9HBG1NM_000559.2(HBG1): c.-167C> Tsingle nucleotide variantPathogenicrs281860601GRCh37Chr 11, 5271201: 5271201

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

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2BioGPS, 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

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

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50PathCards, 53QIAGEN, 55Reactome
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Compounds for genes affiliated with Hereditary Persistence of Fetal Hemoglobin - Sickle Cell Disease

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45Novoseek, 24HMDB, 11DrugBank, 3BitterDB, 51PharmGKB, 29IUPHAR
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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 sulfate459.6HBG1, HBB
2benzidine459.6HBB, HBG1
3porphobilinogen45 24 1111.6HBB, HBG1
4propionate459.6HBG1, HBB
55-aminolevulinic acid45 2410.6HBG1, HBB
6neomycin459.6HBB, HBG1
7azathioprine45 3 51 1112.4HBG1, HBB
8de-oxy459.4HBB, HBG2
9s-nitrosocysteine459.4HBG2, HBB
1023-diphosphoglycerate459.3HBB, HBG2
11glyceraldehyde 3-phosphate459.3HBB, HBG1
12butyrate459.3HBB, HBG1
13polyacrylamide459.2HBG1, HBB
14glucose 6-phosphate45 2410.2HBB, HBG2
15zinc45 2410.0KLF1, HBB, HBG1
16hydroxyurea45 51 1110.9HBB, HBG2, HBG1
17heme29 24 1110.8HBB, HBG2, HBG1
18iron45 249.8HBB, HBG2, HBG1
19histidine458.7HBB, HBG2
20nitric oxide45 24 1110.7HBG1, HBG2, HBB
21oxygen45 249.6HBB, HBG2, HBG1

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

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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
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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Sources for Hereditary Persistence of Fetal Hemoglobin - Sickle Cell Disease

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4CDC
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
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet