HPFH
MCID: FTL033
MIFTS: 33

Fetal Hemoglobin Quantitative Trait Locus 1 (HPFH) malady

Categories: Genetic diseases, Immune diseases, Blood diseases, Rare diseases, Fetal diseases

Aliases & Classifications for Fetal Hemoglobin Quantitative Trait Locus 1

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Sources:
12diseasecard, 24GeneTests, 27GTR, 30ICD10, 31ICD10 via Orphanet, 52OMIM, 54Orphanet, 64The Human Phenotype Ontology, 68UMLS, 69UMLS via Orphanet
See all MalaCards sources

Aliases & Descriptions for Fetal Hemoglobin Quantitative Trait Locus 1:

Name: Fetal Hemoglobin Quantitative Trait Locus 1 52 24 27
Delta-Beta Thalassemia 52 12 68
Hereditary Persistence of Fetal Hemoglobin 52 24
Hemoglobin F, Heredtary Persistence of Hpfh Hereditary Persistence of Fetal Hemoglobin, Hb Gene Cluster-Related 24
 
Hereditary Persistence of Fetal Hemoglobin Thalassemia 68
Hereditary Persistence of Hemoglobin F 24
Delta-Beta-Thalassemia 54
Hpfh 24

Characteristics:

Orphanet epidemiological data:

54
delta-beta-thalassemia:
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal

HPO:

64
fetal hemoglobin quantitative trait locus 1:
Inheritance: autosomal dominant inheritance

Classifications:



External Ids:

OMIM52 141749
Orphanet54 ORPHA231237
UMLS via Orphanet69 C0271985
ICD10 via Orphanet31 D56.2
ICD1030 D56.2, D56.4

Summaries for Fetal Hemoglobin Quantitative Trait Locus 1

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OMIM:52 Classic hereditary persistence of fetal hemoglobin (HPFH) is characterized by a substantial elevation of fetal... (141749) more...

MalaCards based summary: Fetal Hemoglobin Quantitative Trait Locus 1, also known as delta-beta thalassemia, is related to sickle delta beta thalassemia and hereditary persistence of fetal hemoglobin, klf1-related, and has symptoms including Array, Array and Array. An important gene associated with Fetal Hemoglobin Quantitative Trait Locus 1 is HBG1 (Hemoglobin Subunit Gamma 1), and among its related pathways are Glucose / Energy Metabolism and Response to elevated platelet cytosolic Ca2+.

Related Diseases for Fetal Hemoglobin Quantitative Trait Locus 1

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Diseases in the Fetal Hemoglobin Quantitative Trait Locus 1 family:

Fetal Hemoglobin Quantitative Trait Locus 2 Fetal Hemoglobin Quantitative Trait Locus 4
Fetal Hemoglobin Quantitative Trait Locus 3

Diseases related to Fetal Hemoglobin Quantitative Trait Locus 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 36)
idRelated DiseaseScoreTop Affiliating Genes
1sickle delta beta thalassemia12.2
2hereditary persistence of fetal hemoglobin, klf1-related12.2
3hereditary persistence of fetal hemoglobin-sickle cell disease syndrome12.2
4hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome12.2
5thalassemia, hispanic gamma-delta-beta11.5
6intellectual developmental disorder with persistence of fetal hemoglobin11.2
7fetal hemoglobin quantitative trait locus 211.0
8thalassemia10.6
9sickle cell anemia10.1
10adult-onset multiple mitochondrial dna deletion syndrome due to dguok deficiency10.0HBB, HBD
11middle ear adenoma10.0HBB, HBD
12hepatic infarction10.0HBB, HBD
13extrahepatic bile duct papillary adenoma10.0HBB, HBD
14endometrial adenocarcinoma10.0HBB, HBD
15intracranial structure hemangioma10.0HBB, HBD
16acute liver failure10.0HBB, HBG1
17chylocele of tunica vaginalis10.0HBB, HBD
18mixed malaria9.9HBB, HBD
19t-cell large granular lymphocyte leukemia9.9HBB, HBD
20vagus nerve neoplasm9.9HBB, HBG1
21endometriosis of uterus9.9HBB, HBG2
22setariasis9.8HBB, HBG2
23gaba-transaminase deficiency9.8HBB, HBD, HBG1
24larynx sarcoma9.8HBB, HBD, HBG1
25meningeal melanocytoma9.8HBB, HBD, HBG1
26heinz body anemia9.8HBB, HBD, HBG1
27conjunctivitis9.8
28delta-thalassemia9.8
29thalassemia intermedia9.8
30sepsis in premature infants9.7HBB, HBG1, HBG2
31isolated atp synthase deficiency9.7HBB, HBG1, HBG2
32neuronal ceroid-lipofuscinoses9.7HBB, HBG2
33costello syndrome9.5HBB, HBD, HBG1, HBG2
34tk2-related mitochondrial dna depletion syndrome, myopathic form9.5HBB, HBD, HBG1, HBG2
35thalassemia-beta, dominant inclusion-body9.5HBB, HBD, HBG1, HBG2
36tracheal cancer9.5HBB, HBD, HBG1, HBG2

Graphical network of the top 20 diseases related to Fetal Hemoglobin Quantitative Trait Locus 1:



Diseases related to fetal hemoglobin quantitative trait locus 1

Symptoms & Phenotypes for Fetal Hemoglobin Quantitative Trait Locus 1

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Symptoms by clinical synopsis from OMIM:

141749

Clinical features from OMIM:

141749

Human phenotypes related to Fetal Hemoglobin Quantitative Trait Locus 1:

 54 64
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 anemia54 Very frequent (99-80%)
2 microcytic anemia64 54 Very frequent (99-80%) HP:0001935
3 abnormal hemoglobin64 54 Very frequent (99-80%) HP:0011902
4 persistence of hemoglobin f64 HP:0011904

Drugs & Therapeutics for Fetal Hemoglobin Quantitative Trait Locus 1

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Fetal Hemoglobin Quantitative Trait Locus 1

Genetic Tests for Fetal Hemoglobin Quantitative Trait Locus 1

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Genetic tests related to Fetal Hemoglobin Quantitative Trait Locus 1:

id Genetic test Affiliating Genes
1 Fetal Hemoglobin Quantitative Trait Locus 127 24 HBG1, HBG2
2 Hereditary Persistence of Fetal Hemoglobin24 HBB, HBG1, HBG2

Anatomical Context for Fetal Hemoglobin Quantitative Trait Locus 1

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Publications for Fetal Hemoglobin Quantitative Trait Locus 1

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Variations for Fetal Hemoglobin Quantitative Trait Locus 1

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Clinvar genetic disease variations for Fetal Hemoglobin Quantitative Trait Locus 1:

5 (show all 13)
id Gene Variation Type Significance SNP ID Assembly Location
1HBG2NM_ 000184.2(HBG2): c.-255C> GSNVPathogenicrs35617911GRCh37Chr 11, 5276213: 5276213
2HBG2NM_ 000184.2(HBG2): c.-228T> CSNVPathogenicrs63750654GRCh37Chr 11, 5276186: 5276186
3HBG2NM_ 000184.2(HBG2): c.-167C> TSNVPathogenicrs34809449GRCh37Chr 11, 5276125: 5276125
4HBG2NM_ 000184.2(HBG2): c.-167C> ASNVPathogenicrs34809449GRCh37Chr 11, 5276125: 5276125
5HBG1NM_ 000559.2(HBG1): c.-170G> ASNVPathogenicrs35378915GRCh37Chr 11, 5271204: 5271204
6HBG1NM_ 000559.2(HBG1): c.-251T> CSNVPathogenicrs35710727GRCh37Chr 11, 5271285: 5271285
7HBG1NM_ 000559.2(HBG1): c.-53-196C> TSNVPathogenicrs35983258GRCh37Chr 11, 5271283: 5271283
8HBG1NM_ 000559.2(HBG1): c.-53-195C> GSNVPathogenicrs35321913GRCh37Chr 11, 5271282: 5271282
9HBG1NM_ 000559.2(HBG1): c.-167C> TSNVPathogenicrs281860601GRCh37Chr 11, 5271201: 5271201
10HBG1HBG1, C-T, -158SNVPathogenic
11HBBNM_ 000518.4(HBB): c.20A> T (p.Glu7Val)SNV, HaplotypePathogenic, protectivers334GRCh37Chr 11, 5248232: 5248232
12HBBHBB, 106-KB DELdeletionPathogenic
13HBG2HBG2, T-G, -567SNVPathogenic

Expression for genes affiliated with Fetal Hemoglobin Quantitative Trait Locus 1

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Search GEO for disease gene expression data for Fetal Hemoglobin Quantitative Trait Locus 1.

Pathways for genes affiliated with Fetal Hemoglobin Quantitative Trait Locus 1

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Pathways related to Fetal Hemoglobin Quantitative Trait Locus 1 according to GeneCards Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
19.3HBB, HBG1
2
Show member pathways
8.0HBB, HBD, HBG1, HBG2
38.0HBB, HBD, HBG1, HBG2

GO Terms for genes affiliated with Fetal Hemoglobin Quantitative Trait Locus 1

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Cellular components related to Fetal Hemoglobin Quantitative Trait Locus 1 according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1blood microparticleGO:00725628.8HBB, HBD, HBG2
2hemoglobin complexGO:00058338.0HBB, HBD, HBG1, HBG2

Biological processes related to Fetal Hemoglobin Quantitative Trait Locus 1 according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1blood coagulationGO:00075968.7HBB, HBD, HBG1, HBG2
2oxygen transportGO:00156718.7HBB, HBD, HBG1, HBG2
3transportGO:00068108.0HBB, HBD, HBG1, HBG2

Molecular functions related to Fetal Hemoglobin Quantitative Trait Locus 1 according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1heme bindingGO:00200378.8HBB, HBD, HBG1, HBG2
2iron ion bindingGO:00055068.8HBB, HBD, HBG1, HBG2
3metal ion bindingGO:00468728.5HBB, HBD, HBG1, HBG2
4oxygen bindingGO:00198258.3HBB, HBD, HBG1, HBG2
5oxygen transporter activityGO:00053448.0HBB, HBD, HBG1, HBG2

Sources for Fetal Hemoglobin Quantitative Trait Locus 1

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet