MCID: HRD111
MIFTS: 20

Hereditary Persistence of Fetal Hemoglobin - Sickle Cell Disease malady

Blood diseases, Rare diseases categories

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

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Sources:
47Orphanet, 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 47
 
Hpfh - Sickle Cell Disease 47


Classifications:

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


Characteristics (Orphanet epidemiological data):

47
hereditary persistence of fetal hemoglobin - sickle cell disease:
Inheritance: Autosomal recessive; Age of onset: All ages


External Ids:

Orphanet47 251380
ICD10 via Orphanet26 D57.2

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 hpfh - sickle cell disease, 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.

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 Suite gene sharing:

(show all 13)
idRelated DiseaseScoreTop Affiliating Genes
1malaria10.2HBB
2methemoglobinemia10.1HBG2
3sickle cell anemia10.0HBB, HBG1
4thalassemias, alpha-10.0HBB, HBG1
5fetal hemoglobin quantitative trait locus 19.9HBG2, HBG1
6hemoglobinopathy9.8HBG1, HBB, KLF1
7hemolytic anemia9.8HBB, HBG2
8acute erythroid leukemia9.8HBG1, HBB, KLF1
9sickle cell disease9.7HBG1, HBG2, HBB
10preeclampsia/eclampsia 19.7HBB, HBG2
11thalassemia, hispanic gamma-delta-beta9.5HBG1, HBG2, HBB, KLF1
12thalassemia9.5KLF1, HBB, HBG2, HBG1
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:

Search ClinicalTrials for Hereditary Persistence of Fetal Hemoglobin - Sickle Cell Disease

Search NIH Clinical Center for Hereditary Persistence of Fetal Hemoglobin - Sickle Cell Disease

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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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:
43Novoseek, 24HMDB, 12DrugBank, 2BitterDB, 49PharmGKB, 28IUPHAR
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Compounds related to Hereditary Persistence of Fetal Hemoglobin - Sickle Cell Disease according to GeneCards Suite gene sharing:

(show all 21)
idCompoundScoreTop Affiliating Genes
1dimethyl sulfate439.6HBG1, HBB
2benzidine439.6HBB, HBG1
3porphobilinogen43 24 1211.6HBB, HBG1
4propionate439.6HBG1, HBB
55-aminolevulinic acid43 2410.6HBG1, HBB
6neomycin439.6HBB, HBG1
7azathioprine43 2 49 1212.4HBG1, HBB
8de-oxy439.4HBB, HBG2
9s-nitrosocysteine439.4HBG2, HBB
1023-diphosphoglycerate439.3HBB, HBG2
11glyceraldehyde 3-phosphate439.3HBB, HBG1
12butyrate439.3HBB, HBG1
13polyacrylamide439.2HBG1, HBB
14glucose 6-phosphate43 2410.2HBB, HBG2
15zinc43 2410.0KLF1, HBB, HBG1
16hydroxyurea43 49 1210.9HBB, HBG2, HBG1
17heme28 24 1210.8HBB, HBG2, HBG1
18iron43 249.8HBB, HBG2, HBG1
19histidine438.7HBB, HBG2
20nitric oxide43 24 1210.7HBG1, HBG2, HBB
21oxygen43 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 Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1blood microparticleGO:00725629.0HBB, HBG2
2hemoglobin complexGO:00058338.2HBB, HBG2, HBG1

Biological processes related to Hereditary Persistence of Fetal Hemoglobin - Sickle Cell Disease according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1blood coagulationGO:00075968.5HBB, HBG2, HBG1

Molecular functions related to Hereditary Persistence of Fetal Hemoglobin - Sickle Cell Disease according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1oxygen transporter activityGO:00053448.5HBB, HBG2, HBG1
2iron ion bindingGO:00055068.5HBB, HBG2, HBG1
3oxygen bindingGO:00198258.4HBB, HBG2, HBG1
4heme bindingGO:00200378.2HBG1, HBG2, HBB

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

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

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
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet