MCID: HRD111
MIFTS: 16

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:
51Orphanet, 28ICD10 via Orphanet
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Aliases & Descriptions for Hereditary Persistence of Fetal Hemoglobin - Sickle Cell Disease:

Name: Hereditary Persistence of Fetal Hemoglobin - Sickle Cell Disease 51
 
Hpfh - Sickle Cell Disease 51


Classifications:



Characteristics (Orphanet epidemiological data):

51
hereditary persistence of fetal hemoglobin - sickle cell disease:
Inheritance: Autosomal recessive; Age of onset: All ages


External Ids:

Orphanet51 251380
ICD10 via Orphanet28 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 tendinitis and queensland tick typhus. An important gene associated with Hereditary Persistence of Fetal Hemoglobin - Sickle Cell Disease is HBB (Hemoglobin, Beta), and among its related pathways are Hemostasis and Factors involved in megakaryocyte development and platelet production.

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

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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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Interventional clinical trials:

Search ClinicalTrials, 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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Clinvar genetic disease variations for Hereditary Persistence of Fetal Hemoglobin - Sickle Cell Disease:

5 (show all 14)
id Gene Variation Type Significance SNP ID Assembly Location
1BCL11ANM_018014.3(BCL11A): c.386-24278G> Asingle nucleotide variantLikely pathogenicrs11886868GRCh37Chr 2, 60720246: 60720246
2NC_000006.12: g.135105435A> Gsingle nucleotide variantLikely pathogenicrs4895441GRCh38Chr 6, 135105435: 135105435
3HBG2NM_000184.2(HBG2): c.-255C> Gsingle nucleotide variantPathogenicrs35617911GRCh37Chr 11, 5276213: 5276213
4HBG2NM_000184.2(HBG2): c.-228T> Csingle nucleotide variantPathogenicrs63750654GRCh37Chr 11, 5276186: 5276186
5HBG2NM_000184.2(HBG2): c.-167C> Tsingle nucleotide variantPathogenicrs34809449GRCh37Chr 11, 5276125: 5276125
6HBG2NM_000184.2(HBG2): c.-167C> Asingle nucleotide variantPathogenicrs34809449GRCh37Chr 11, 5276125: 5276125
7HBG1NM_000559.2(HBG1): c.-170G> Asingle nucleotide variantPathogenicrs35378915GRCh37Chr 11, 5271204: 5271204
8HBG1NM_000559.2(HBG1): c.-251T> Csingle nucleotide variantPathogenicrs35710727GRCh37Chr 11, 5271285: 5271285
9HBG1NM_000559.2(HBG1): c.-53-196C> Tsingle nucleotide variantPathogenicrs35983258GRCh37Chr 11, 5271283: 5271283
10HBG1NM_000559.2(HBG1): c.-53-195C> Gsingle nucleotide variantPathogenicrs35321913GRCh37Chr 11, 5271282: 5271282
11HBG1NM_000559.2(HBG1): c.-167C> Tsingle nucleotide variantPathogenicrs281860601GRCh37Chr 11, 5271201: 5271201
12HBG1HBG1, C-T, -158single nucleotide variantPathogenic
13HBBHBB, 106-KB DELdeletionPathogenic
14HBG2HBG2, T-G, -567single nucleotide variantPathogenic

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

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
8.9HBB, HBG1, HBG2
28.9HBB, HBG1, HBG2

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:00725629.5HBB, HBG2
2hemoglobin complexGO:00058339.1HBB, HBG1, HBG2

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

idNameGO IDScoreTop Affiliating Genes
1oxygen transportGO:00156719.4HBB, HBG1, HBG2
2blood coagulationGO:00075968.9HBB, HBG1, HBG2

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:00053449.4HBB, HBG1, HBG2
2iron ion bindingGO:00055069.0HBB, HBG1, HBG2
3oxygen bindingGO:00198258.9HBB, HBG1, HBG2
4heme bindingGO:00200378.9HBB, HBG1, HBG2

Sources for Hereditary Persistence of Fetal Hemoglobin - Sickle Cell Disease

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet