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

Aliases & Descriptions for Fetal Hemoglobin Quantitative Trait Locus 1:

Name: Fetal Hemoglobin Quantitative Trait Locus 1 54 24 29
Delta-Beta Thalassemia 54 13 69
Hereditary Persistence of Fetal Hemoglobin 54 24
Hemoglobin F, Heredtary Persistence of Hpfh Hereditary Persistence of Fetal Hemoglobin, Hb Gene Cluster-Related 24
Hereditary Persistence of Fetal Hemoglobin Thalassemia 69
Hereditary Persistence of Hemoglobin F 24
Delta-Beta-Thalassemia 56
Hpfh 24

Characteristics:

Orphanet epidemiological data:

56
delta-beta-thalassemia
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal;

HPO:

32
fetal hemoglobin quantitative trait locus 1:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 54 141749
Orphanet 56 ORPHA231237
UMLS via Orphanet 70 C0271985
ICD10 via Orphanet 34 D56.2
ICD10 33 D56.2 D56.4

Summaries for Fetal Hemoglobin Quantitative Trait Locus 1

OMIM : 54 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 microcytic anemia, abnormal hemoglobin and anemia. An important gene associated with Fetal Hemoglobin Quantitative Trait Locus 1 is HBG1 (Hemoglobin Subunit Gamma 1), and among its related pathways/superpathways are Response to elevated platelet cytosolic Ca2+ and Glucose / Energy Metabolism.

Related Diseases for Fetal Hemoglobin Quantitative Trait Locus 1

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)
id Related Disease Score Top Affiliating Genes
1 sickle delta beta thalassemia 12.2
2 hereditary persistence of fetal hemoglobin, klf1-related 12.2
3 hereditary persistence of fetal hemoglobin-sickle cell disease syndrome 12.2
4 hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome 12.2
5 thalassemia, hispanic gamma-delta-beta 11.5
6 intellectual developmental disorder with persistence of fetal hemoglobin 11.2
7 fetal hemoglobin quantitative trait locus 2 11.0
8 thalassemia 10.6
9 sickle cell anemia 10.1
10 adult-onset multiple mitochondrial dna deletion syndrome due to dguok deficiency 10.0 HBB HBD
11 middle ear adenoma 10.0 HBB HBD
12 hepatic infarction 10.0 HBB HBD
13 extrahepatic bile duct papillary adenoma 10.0 HBB HBD
14 endometrial adenocarcinoma 10.0 HBB HBD
15 intracranial structure hemangioma 10.0 HBB HBD
16 acute liver failure 10.0 HBB HBG1
17 chylocele of tunica vaginalis 10.0 HBB HBD
18 mixed malaria 9.9 HBB HBD
19 t-cell large granular lymphocyte leukemia 9.9 HBB HBD
20 endometriosis of uterus 9.9 HBB HBG2
21 vagus nerve neoplasm 9.9 HBB HBG1
22 setariasis 9.8 HBB HBG2
23 gaba-transaminase deficiency 9.8 HBB HBD HBG1
24 larynx sarcoma 9.8 HBB HBD HBG1
25 meningeal melanocytoma 9.8 HBB HBD HBG1
26 heinz body anemia 9.8 HBB HBD HBG1
27 conjunctivitis 9.8
28 delta-thalassemia 9.8
29 thalassemia intermedia 9.8
30 sepsis in premature infants 9.7 HBB HBG1 HBG2
31 isolated atp synthase deficiency 9.7 HBB HBG1 HBG2
32 neuronal ceroid-lipofuscinoses 9.7 HBB HBG2
33 costello syndrome 9.5 HBB HBD HBG1 HBG2
34 tk2-related mitochondrial dna depletion syndrome, myopathic form 9.5 HBB HBD HBG1 HBG2
35 thalassemia-beta, dominant inclusion-body 9.5 HBB HBD HBG1 HBG2
36 tracheal cancer 9.5 HBB 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

Symptoms by clinical synopsis from OMIM:

141749

Clinical features from OMIM:

141749

Human phenotypes related to Fetal Hemoglobin Quantitative Trait Locus 1:

56 32
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 microcytic anemia 56 32 Very frequent (99-80%) HP:0001935
2 abnormal hemoglobin 56 32 Very frequent (99-80%) HP:0011902
3 anemia 56 Very frequent (99-80%)
4 persistence of hemoglobin f 32 HP:0011904

Drugs & Therapeutics for Fetal Hemoglobin Quantitative Trait Locus 1

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

Genetic Tests for Fetal Hemoglobin Quantitative Trait Locus 1

Genetic tests related to Fetal Hemoglobin Quantitative Trait Locus 1:

id Genetic test Affiliating Genes
1 Fetal Hemoglobin Quantitative Trait Locus 1 29 24 HBG1 HBG2
2 Hereditary Persistence of Fetal Hemoglobin 24 HBB HBG1 HBG2

Anatomical Context for Fetal Hemoglobin Quantitative Trait Locus 1

Publications for Fetal Hemoglobin Quantitative Trait Locus 1

Variations for Fetal Hemoglobin Quantitative Trait Locus 1

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

6 (show all 13)
id Gene Variation Type Significance SNP ID Assembly Location
1 HBG2 NM_000184.2(HBG2): c.-255C> G single nucleotide variant Pathogenic rs35617911 GRCh37 Chromosome 11, 5276213: 5276213
2 HBG2 NM_000184.2(HBG2): c.-228T> C single nucleotide variant Pathogenic rs63750654 GRCh37 Chromosome 11, 5276186: 5276186
3 HBG2 NM_000184.2(HBG2): c.-167C> T single nucleotide variant Pathogenic rs34809449 GRCh37 Chromosome 11, 5276125: 5276125
4 HBG2 NM_000184.2(HBG2): c.-167C> A single nucleotide variant Pathogenic rs34809449 GRCh37 Chromosome 11, 5276125: 5276125
5 HBG1 NM_000559.2(HBG1): c.-170G> A single nucleotide variant Pathogenic rs35378915 GRCh37 Chromosome 11, 5271204: 5271204
6 HBG1 NM_000559.2(HBG1): c.-251T> C single nucleotide variant Pathogenic rs35710727 GRCh37 Chromosome 11, 5271285: 5271285
7 HBG1 NM_000559.2(HBG1): c.-53-196C> T single nucleotide variant Pathogenic rs35983258 GRCh37 Chromosome 11, 5271283: 5271283
8 HBG1 NM_000559.2(HBG1): c.-53-195C> G single nucleotide variant Pathogenic rs35321913 GRCh37 Chromosome 11, 5271282: 5271282
9 HBG1 NM_000559.2(HBG1): c.-167C> T single nucleotide variant Pathogenic rs281860601 GRCh37 Chromosome 11, 5271201: 5271201
10 HBG1 HBG1, C-T, -158 single nucleotide variant Pathogenic
11 HBB NM_000518.4(HBB): c.20A> T (p.Glu7Val) single nucleotide variant Pathogenic,protective rs334 GRCh37 Chromosome 11, 5248232: 5248232
12 HBB HBB, 106-KB DEL deletion Pathogenic
13 HBG2 HBG2, T-G, -567 single nucleotide variant Pathogenic

Expression for Fetal Hemoglobin Quantitative Trait Locus 1

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

Pathways for Fetal Hemoglobin Quantitative Trait Locus 1

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

id Super pathways Score Top Affiliating Genes
1
Show member pathways
12.33 HBB HBD HBG1 HBG2
2 11.62 HBB HBG1
3 11.12 HBB HBD HBG1 HBG2

GO Terms for Fetal Hemoglobin Quantitative Trait Locus 1

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

id Name GO ID Score Top Affiliating Genes
1 blood microparticle GO:0072562 9.13 HBB HBD HBG2
2 hemoglobin complex GO:0005833 8.92 HBB HBD HBG1 HBG2

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

id Name GO ID Score Top Affiliating Genes
1 transport GO:0006810 9.46 HBB HBD HBG1 HBG2
2 blood coagulation GO:0007596 9.26 HBB HBD HBG1 HBG2
3 oxygen transport GO:0015671 8.92 HBB HBD HBG1 HBG2

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

id Name GO ID Score Top Affiliating Genes
1 metal ion binding GO:0046872 9.62 HBB HBD HBG1 HBG2
2 iron ion binding GO:0005506 9.56 HBB HBD HBG1 HBG2
3 heme binding GO:0020037 9.46 HBB HBD HBG1 HBG2
4 oxygen binding GO:0019825 9.26 HBB HBD HBG1 HBG2
5 oxygen transporter activity GO:0005344 8.92 HBB HBD HBG1 HBG2

Sources for Fetal Hemoglobin Quantitative Trait Locus 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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