MCID: HRD111
MIFTS: 24

Hereditary Persistence of Fetal Hemoglobin - Sickle Cell Disease malady

Blood diseases category

Summaries for Hereditary Persistence of Fetal Hemoglobin - Sickle Cell Disease

About this section
Sources:
32MalaCards
See all sources

Fully expand this MalaCard

Export this MalaCard
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

About this section
Sources:
48Orphanet, 60UMLS, 26ICD10 via Orphanet
See all sources

Classifications:

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


Characteristics (Orphanet epidemiological data):

48
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 48
fetal hemoglobin quantitative trait locus 1 60
hpfh - sickle cell disease 48


External Ids:

ICD10 via Orphanet26 D57.2

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

About this section
Sources:
17GeneCards, 18GeneDecks
See all sources

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
1fetal hemoglobin quantitative trait locus 130.9HBG2, HBG1
2hereditary persistence of fetal hemoglobin30.6KLF1
3methemoglobinemia10.0HBG2
4sickle cell anemia10.0HBB, HBG2
5pre-eclampsia10.0HBG2, HBB
6alpha thalassemia10.0HBG1, HBB
7hemolytic anemia10.0HBG2, HBB
8leukemia10.0KLF1, HBB
9hemoglobinopathy10.0HBB, HBG1, KLF1
10acute erythroid leukemia10.0KLF1, HBG1, HBB
11sickle cell disease10.0HBG1, HBG2, HBB
12beta thalassemia10.0HBB, HBG2, HBG1, KLF1
13deficiency anemia10.0HBB, KLF1, HBG2, HBG1

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

About this section

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

About this section
Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
See all sources

Approved drugs:

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

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

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

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

About this section

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

About this section

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

About this section

Publications for Hereditary Persistence of Fetal Hemoglobin - Sickle Cell Disease

About this section

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

About this section

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

About this section
Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

About this section
Sources:
53Reactome
See all sources

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

About this section
Sources:
44Novoseek, 24HMDB, 11DrugBank, 49PharmGKB, 2BitterDB, 28IUPHAR
See all sources

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

(show all 19)
idCompoundScoreTop Affiliating Genes
1de-oxy449.7HBG2, HBB
2s-nitrosocysteine449.6HBB, HBG2
323-diphosphoglycerate449.6HBG2, HBB
4glucose 6-phosphate44 2410.5HBG2, HBB
5dimethyl sulfate449.4HBB, HBG1
6benzidine449.4HBB, HBG1
7porphobilinogen44 11 2411.4HBG1, HBB
8propionate449.4HBB, HBG1
95-aminolevulinic acid44 2410.4HBB, HBG1
10neomycin449.3HBB, HBG1
11azathioprine44 49 2 1112.1HBB, HBG1
12polyacrylamide449.1HBB, HBG1
13hydroxyurea44 49 1110.8HBG2, HBB, HBG1
14glyceraldehyde 3-phosphate448.8HBB, HBG1
15heme28 11 2410.8HBG1, HBB, HBG2
16zinc44 249.7HBB, HBG1, KLF1
17iron44 249.7HBG1, HBB, HBG2
18nitric oxide44 11 2410.6HBG1, HBB, HBG2
19oxygen44 249.4HBG1, HBB, HBG2

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

About this section
Sources:
16Gene Ontology
See all sources

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

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Hereditary Persistence of Fetal Hemoglobin - Sickle Cell Disease

About this section
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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet