MCID: HRD024
MIFTS: 44

Hereditary Persistence of Fetal Hemoglobin malady

Immune diseases, Blood diseases categories

Summaries for Hereditary Persistence of Fetal Hemoglobin

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63Wikipedia, 46OMIM, 32MalaCards
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Wikipedia:63 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 beta thalassemia and fetal hemoglobin quantitative trait locus 1, and has symptoms including anomalies of bones/skeletal anomalies, hepatomegaly/liver enlargement (excluding storage disease) and pallor. 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. Affiliated tissues include liver and bone.

Description from OMIM:46 141749,142335,142470,305435,613566

Aliases & Classifications for Hereditary Persistence of Fetal Hemoglobin

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20GeneTests, 46OMIM, 60UMLS, 48Orphanet, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet, 25ICD10
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Classifications:

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


Characteristics (Orphanet epidemiological data):

48
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 46
hereditary persistence of fetal hemoglobin - beta-thalassemia 48
fetal hemoglobin quantitative trait locus 1 60
hpfh - beta-thalassemia 48
delta-beta-thalassemia 48
delta beta thalassemia 60


External Ids:

ICD10 via Orphanet26 D56.2, D56.4
SNOMED-CT via Orphanet57 16360009, 16964007
UMLS via Orphanet61 C0271985
ICD1025 D56.4

Related Diseases for Hereditary Persistence of Fetal Hemoglobin

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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

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46OMIM, 48Orphanet
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Clinical features from OMIM:

141749,142335,142470,305435,613566

Clinical synopsis from OMIM:

141749

Symptoms:

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

Drugs & Therapeutics for Hereditary Persistence of Fetal Hemoglobin

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5CenterWatch, 41NIH 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

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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

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32MalaCards
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MalaCards organs/tissues related to Hereditary Persistence of Fetal Hemoglobin:

32
Liver, Bone

Animal Models for Hereditary Persistence of Fetal Hemoglobin or affiliated genes

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Publications for Hereditary Persistence of Fetal Hemoglobin

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Genetic Variations for Hereditary Persistence of Fetal Hemoglobin

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Expression for genes affiliated with Hereditary Persistence of Fetal Hemoglobin

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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

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53Reactome
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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

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44Novoseek, 11DrugBank, 24HMDB, 49PharmGKB, 2BitterDB, 28IUPHAR
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Compounds related to Hereditary Persistence of Fetal Hemoglobin according to GeneCards/GeneDecks:

(show all 18)
idCompoundScoreTop Affiliating Genes
1de-oxy4410.2HBG2, HBB
2s-nitrosocysteine4410.2HBB, HBG2
323-diphosphoglycerate4410.2HBB, HBG2
4dimethyl sulfate4410.2HBB, HBG1
5aclacinomycin4410.1HBG1, GATA1
6aclarubicin4410.1GATA1, HBG1
7benzidine4410.1HBG1, HBB
8porphobilinogen44 11 2412.0HBG1, GATA1, HBB
95-aminolevulinic acid44 2411.0HBB, HBG1, GATA1
10azathioprine44 49 2 1112.8HBG1, GATA1, HBB
11propionate449.7HBB, HBG1
12hydroxyurea44 49 1111.7HBB, HBG2, HBG1, GATA1
13chloramphenicol44 2 1111.6HBE1, GATA1, HBB
14heme28 11 2411.5HBG2, HBD, HBE1, HBG1, HBB
15iron44 2410.4HBG2, HBB, HBG1, GATA1
16glyceraldehyde 3-phosphate449.1HBB, HBG1, POU2F1
17butyrate449.1HBG1, POU2F1, GATA1, HBB
18zinc44 249.7HBB, KLF1, GATA1, HBG1, POU2F1

GO Terms for genes affiliated with Hereditary Persistence of Fetal Hemoglobin

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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:0198259.0HBE1, HBB, HBG1, HBD, HBG2
4heme bindingGO:0200378.8HBD, HBG1, HBB, HBE1, HBG2

Products for genes affiliated with Hereditary Persistence of Fetal Hemoglobin

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Hereditary Persistence of Fetal Hemoglobin

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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