MCID: HRD111
MIFTS: 24

Hereditary Persistence of Fetal Hemoglobin - Sickle Cell Disease malady

Blood diseases, Rare diseases categories

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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63UMLS, 50Orphanet, 27ICD10 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):

50
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 50
fetal hemoglobin quantitative trait locus 1 63
hpfh - sickle cell disease 50


External Ids:

ICD10 via Orphanet27 D57.2

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

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18GeneCards, 19GeneDecks
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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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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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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

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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, 16Gene 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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51PathCards, 54QIAGEN, 56Reactome
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Compounds for genes affiliated with Hereditary Persistence of Fetal Hemoglobin - Sickle Cell Disease

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46Novoseek, 25HMDB, 12DrugBank, 3BitterDB, 52PharmGKB, 30IUPHAR
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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 sulfate469.6HBG1, HBB
2benzidine469.6HBB, HBG1
3porphobilinogen46 25 1211.6HBB, HBG1
4propionate469.6HBG1, HBB
55-aminolevulinic acid46 2510.6HBG1, HBB
6neomycin469.6HBB, HBG1
7azathioprine46 3 52 1212.4HBG1, HBB
8de-oxy469.4HBB, HBG2
9s-nitrosocysteine469.4HBG2, HBB
1023-diphosphoglycerate469.3HBB, HBG2
11glyceraldehyde 3-phosphate469.3HBB, HBG1
12butyrate469.3HBB, HBG1
13polyacrylamide469.2HBG1, HBB
14glucose 6-phosphate46 2510.2HBB, HBG2
15zinc46 2510.0KLF1, HBB, HBG1
16hydroxyurea46 52 1210.9HBB, HBG2, HBG1
17heme30 25 1210.8HBB, HBG2, HBG1
18iron46 259.8HBB, HBG2, HBG1
19histidine468.7HBB, HBG2
20nitric oxide46 25 1210.7HBG1, HBG2, HBB
21oxygen46 259.6HBB, HBG2, HBG1

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

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17Gene 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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  • Antibodies
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Sources for Hereditary Persistence of Fetal Hemoglobin - Sickle Cell Disease

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet