MCID: HRD024
MIFTS: 35

Hereditary Persistence of Fetal Hemoglobin malady

Immune, Blood categories

Summaries for Hereditary Persistence of Fetal Hemoglobin

Sources:
64Wikipedia, 47OMIM, 33MalaCards
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Wikipedia:64 Hereditary persistence of fetal hemoglobin (HPFH, BrE: Hereditary persistence of foetal haemoglobin) is... more...

MalaCards: Hereditary Persistence of Fetal Hemoglobin, also known as hereditary persistence of fetal hemoglobin - beta-thalassemia, is related to thalassemia and beta thalassemia, and has symptoms including anaemia, microcytic anemia and hemoglobinosis/hemoglobinopathy. An important gene associated with Hereditary Persistence of Fetal Hemoglobin 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.

Description from OMIM:47 141749,142335,142470,305435,613566

Aliases & Classifications for Hereditary Persistence of Fetal Hemoglobin

Sources:
20GeneTests, 47OMIM, 61UMLS, 49Orphanet, 26ICD10 via Orphanet, 58SNOMED-CT via Orphanet, 62UMLS via Orphanet, 25ICD10
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Classifications:

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


Characteristics (Orphanet epidemiological data):

49
delta-beta-thalassemia:
Inheritance: Autosomal recessive; Age of onset: Neonatal/infancy
hereditary persistence of fetal hemoglobin - beta-thalassemia:
Inheritance: Autosomal dominant; Age of onset: Childhood


Aliases & Descriptions:

hereditary persistence of fetal hemoglobin 20 47
hereditary persistence of fetal hemoglobin - beta-thalassemia 49
fetal hemoglobin quantitative trait locus 1 61
hpfh - beta-thalassemia 49
delta-beta-thalassemia 49
delta beta thalassemia 61


External Ids:

ICD10 via Orphanet26 D56.2, D56.4
SNOMED-CT via Orphanet58 16360009
UMLS via Orphanet62 C0271985
ICD1025 D56.4

Related Diseases for Hereditary Persistence of Fetal Hemoglobin

Sources:
17GeneCards, 18GeneDecks
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Graphical network of the top 20 diseases related to Hereditary Persistence of Fetal Hemoglobin:



Diseases related to hereditary persistence of fetal hemoglobin

Clinical Features for Hereditary Persistence of Fetal Hemoglobin

Sources:
47OMIM, 49Orphanet
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Clinical features from OMIM:

141749,142335,142470,305435,613566

Clinical synopsis from OMIM:

141749

Symptoms:

49 (show all 7)
  • anaemia
  • microcytic anemia
  • hemoglobinosis/hemoglobinopathy
  • splenomegaly
  • pallor
  • hepatomegaly/liver enlargement (excluding storage disease)
  • anomalies of bones/skeletal anomalies

Drugs & Therapeutics for Hereditary Persistence of Fetal Hemoglobin

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Hereditary Persistence of Fetal Hemoglobin

Drug clinical trials:

Search ClinicalTrials for Hereditary Persistence of Fetal Hemoglobin

Search NIH Clinical Center for Hereditary Persistence of Fetal Hemoglobin

Search CenterWatch for Hereditary Persistence of Fetal Hemoglobin

Genetic Tests for Hereditary Persistence of Fetal Hemoglobin

Sources:
20GeneTests
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Genetic tests related to Hereditary Persistence of Fetal Hemoglobin:

id Genetic test Affiliating Genes
1 Hereditary Persistence Of Fetal Hemoglobin20 HBD

Anatomical Context for Hereditary Persistence of Fetal Hemoglobin

Animal Models for Hereditary Persistence of Fetal Hemoglobin or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Hereditary Persistence of Fetal Hemoglobin

Genetic Variations for Hereditary Persistence of Fetal Hemoglobin

Expression for genes affiliated with Hereditary Persistence of Fetal Hemoglobin

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Hereditary Persistence of Fetal Hemoglobin

Search GEO for disease gene expression data for Hereditary Persistence of Fetal Hemoglobin.

Pathways for genes affiliated with Hereditary Persistence of Fetal Hemoglobin

Sources:
54Reactome
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Pathways related to Hereditary Persistence of Fetal Hemoglobin according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
8.8HBD, HBG1, HBB, HBE1, HBG2, GATA1
28.8HBG2, HBE1, HBB, HBG1, HBD, GATA1

Compounds for genes affiliated with Hereditary Persistence of Fetal Hemoglobin

Sources:
45Novoseek, 11DrugBank, 24HMDB, 50PharmGKB, 2BitterDB, 29IUPHAR
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Compounds related to Hereditary Persistence of Fetal Hemoglobin according to GeneCards/GeneDecks:

(show all 18)
idCompoundScoreTop Affiliating Genes
1de-oxy4510.2HBG2, HBB
2s-nitrosocysteine4510.2HBB, HBG2
323-diphosphoglycerate4510.2HBB, HBG2
4aclacinomycin4510.2GATA1, HBG1
5dimethyl sulfate4510.2HBG1, HBB
6aclarubicin4510.1GATA1, HBG1
7benzidine4510.1HBG1, HBB
8porphobilinogen45 11 2412.0GATA1, HBG1, HBB
95-aminolevulinic acid45 2411.0GATA1, HBG1, HBB
10azathioprine45 50 2 1112.8HBB, HBG1, GATA1
11propionate459.7HBB, HBG1
12hydroxyurea45 50 1111.7HBG2, HBB, HBG1, GATA1
13chloramphenicol45 2 1111.6HBE1, HBB, GATA1
14heme29 11 2411.5HBG2, HBE1, HBB, HBG1, HBD
15iron45 2410.4HBG2, HBB, HBG1, GATA1
16glyceraldehyde 3-phosphate459.1POU2F1, HBG1, HBB
17butyrate459.1HBB, HBG1, POU2F1, GATA1
18zinc45 249.7HBB, HBG1, POU2F1, GATA1, KLF1

GO Terms for genes affiliated with Hereditary Persistence of Fetal Hemoglobin

Sources:
16Gene Ontology
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Cellular components related to Hereditary Persistence of Fetal Hemoglobin according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1hemoglobin complexGO:0058339.1HBG2, HBE1, HBB, HBG1, HBD

Biological processes related to Hereditary Persistence of Fetal Hemoglobin according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1erythrocyte differentiationGO:0302189.9GATA1, KLF1
2embryonic hemopoiesisGO:0351629.6GATA1, KLF1
3blood coagulationGO:0075968.7HBG2, GATA1, HBD, HBG1, HBB, HBE1

Molecular functions related to Hereditary Persistence of Fetal Hemoglobin according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1oxygen transporter activityGO:0053449.1HBG2, HBE1, HBB, HBG1, HBD
2iron ion bindingGO:0055069.1HBG2, HBE1, HBB, HBG1, HBD
3oxygen bindingGO:0198259.0HBD, HBG1, HBB, HBE1, HBG2
4heme bindingGO:0200378.8HBD, HBG1, HBB, HBE1, HBG2

Products for genes affiliated with Hereditary Persistence of Fetal Hemoglobin

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Hereditary Persistence of Fetal Hemoglobin

3CDC
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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet