HBFQTL1
MCID: FTL033
MIFTS: 52

Fetal Hemoglobin Quantitative Trait Locus 1 (HBFQTL1)

Categories: Blood diseases, Fetal diseases, Genetic diseases, Immune diseases, Rare diseases
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Aliases & Classifications for Fetal Hemoglobin Quantitative Trait Locus 1

MalaCards integrated aliases for Fetal Hemoglobin Quantitative Trait Locus 1:

Name: Fetal Hemoglobin Quantitative Trait Locus 1 57 28 12 5
Hereditary Persistence of Fetal Hemoglobin 57 28 5
Delta-Beta-Thalassemia 58 28 5
Delta-Beta Thalassemia 57 71
Delta Beta-Thalassemia 11 14
Hereditary Persistence of Fetal Hemoglobin, Hb Gene Cluster-Related 57
Hereditary Persistence of Fetal Hemoglobin Thalassemia 71
Hpfh - [hereditary Persistence of Fetal Haemoglobin] 33
Hemoglobin, Fetal, Quantitative Trait Locus 1 38
Hemoglobin F, Hereditary Persistence of 57
Persistence of Fetal Haemoglobin 33
Persistent Haemoglobin F 33
Fetal Haemoglobin 33
Hbfqtl1 57
Hpfh 57

Characteristics:


Inheritance:

Fetal Hemoglobin Quantitative Trait Locus 1: Autosomal dominant 57
Delta-Beta-Thalassemia: Autosomal recessive 58

Age Of Onset:

Delta-Beta-Thalassemia: Infancy,Neonatal 58

Classifications:

Orphanet: 58  
Rare haematological diseases


External Ids:

Disease Ontology 11 DOID:0080773
OMIM® 57 141749
NCIt 49 C172823
ICD10 31 D56.2 D56.4
ICD10 via Orphanet 32 D56.2
UMLS via Orphanet 72 C0271985
Orphanet 58 ORPHA231237
MedGen 40 C1841621
SNOMED-CT via HPO 69 234349007
ICD11 33 418601307
UMLS 71 C0271985 C0271994

Summaries for Fetal Hemoglobin Quantitative Trait Locus 1

OMIM®: 57 Classic hereditary persistence of fetal hemoglobin (HPFH) is characterized by a substantial elevation of fetal hemoglobin (HbF) in adult red blood cells. There are no other phenotypic or hematologic manifestations. Expression of the HBG1 and HBG2 genes, which encode the gamma isoforms of HbF, is normally suppressed shortly before birth and replaced by expression of the beta- (HBB; 141900) or delta- (HBD; 142000) chains, which form adult hemoglobin. Adults normally have less than 1% HbF, whereas heterozygotes for HPFH have 5 to 30% HbF. HPFH heterozygotes have essentially normal red cell indices and a rather homogeneous distribution of HbF among red cells, termed 'pancellular.' Homozygotes for HPFH can express HbF in up to 100% of red blood cells (Thein and Craig, 1998). Delta-beta thalassemia is a hemoglobin disorder characterized by decreased or absent synthesis of the delta- and beta-globin chains with a compensatory increase in expression of fetal gamma-chain synthesis from the affected chromosome. Individuals with delta-beta thalassemia have hypochromic, microcytic anemia and increased HbF, which may mitigate the anemia depending on the level of HbF. Delta-beta thalassemia and some forms of HPFH result from deletions within the beta-globin gene cluster on chromosome 11p15; this has been referred to as 'deletional' HPFH. HPFH can also result from point mutations in the promoter regions of the gamma globulin genes HBG1 and HBG2; this has been referred to as 'non-deletional' HPFH (Ottolenghi et al., 1982; Forget, 1998). Forget (1998) noted that HPFH and delta-beta thalassemia are not clearly distinct disorders, but rather show partially overlapping features that may defy classification. Higher expression of HbF is often termed 'pancellular,' whereas lower expression of HbF is often termed 'heterocellular,' although these represent a spectrum. Approximately 10% of the population has HPFH manifest as modest elevations of HbF (1 to 4%) present in a subset of red cells (about 4.5%) termed F cells. This is also sometimes referred to as 'heterocellular' HPFH, and is considered to be a multifactorial trait influenced by multiple genetic loci (Thein and Craig, 1998). (141749) (Updated 08-Dec-2022)

MalaCards based summary: Fetal Hemoglobin Quantitative Trait Locus 1, also known as hereditary persistence of fetal hemoglobin, is related to hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome and hereditary persistence of fetal hemoglobin-sickle cell disease syndrome. An important gene associated with Fetal Hemoglobin Quantitative Trait Locus 1 is HBB (Hemoglobin Subunit Beta), and among its related pathways/superpathways are Response to elevated platelet cytosolic Ca2+ and Golgi-to-ER retrograde transport. The drug Chrysarobin has been mentioned in the context of this disorder. Affiliated tissues include bone marrow, myeloid and bone, and related phenotypes are microcytic anemia and abnormal hemoglobin

Disease Ontology: 11 A beta thalassemia that is characterized by decreased or absent synthesis of both the delta- and beta-globin chains, which leads to a compensatory increase in fetal gamma-chain synthesis. This disorder results in a microcytic anemia that is clinically mild.

Orphanet: 58 Delta-beta-thalassemia is a form of beta-thalassemia (see this term) characterized by decreased or absent synthesis of the delta- and beta-globin chains with a compensatory increase in expression of fetal gamma-chain synthesis.

Related Diseases for Fetal Hemoglobin Quantitative Trait Locus 1

Diseases in the Fetal Hemoglobin Quantitative Trait Locus 1 family:

Fetal Hemoglobin Quantitative Trait Locus 5 Fetal Hemoglobin Quantitative Trait Locus 2
Fetal Hemoglobin Quantitative Trait Locus 3 Fetal Hemoglobin Quantitative Trait Locus 4
Fetal Hemoglobin Quantitative Trait Locus 6

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

(show top 50) (show all 156)
# Related Disease Score Top Affiliating Genes
1 hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome 32.3 KLF1 HBG2 HBG1 HBB
2 hereditary persistence of fetal hemoglobin-sickle cell disease syndrome 31.8 KLF1 HBG2 HBG1 HBB BCL11A
3 neonatal anemia 30.7 KLF1 HBB
4 splenic sequestration 30.6 HBE1 HBB
5 hemoglobin se disease 30.6 LOC110006319 LOC107133510 LOC106099062 HBB
6 erythroleukemia 30.4 KLF1 HBG1 HBE1 HBB GATA1
7 glucosephosphate dehydrogenase deficiency 30.4 HBG2 HBE1 HBB HBA2 HBA1
8 thalassemia minor 30.3 HBG2 HBG1 HBE1 HBD HBB HBA2
9 sickle cell disease 30.2 LOC110006319 LOC107133510 LOC106099062 HBS1L HBG2 HBG1
10 hypochromic microcytic anemia 30.2 HBE1 HBB HBA2 HBA1
11 acute chest syndrome 30.2 HBB BCL11A
12 splenomegaly 30.2 HBB HBA2 HBA1
13 heinz body anemias 30.2 LOC110006319 LOC107133510 LOC106099062 HBQ1 HBB HBA2
14 histiocytosis-lymphadenopathy plus syndrome 30.1 HBQ1 HBE1 HBB HBA2 HBA1
15 thalassemia 30.1 SOX6 LOC110006319 LOC107133510 KLF1 HBS1L HBQ1
16 beta-thalassemia 30.1 LOC110006319 LOC107133510 LOC106099062 KLF1 HBS1L HBG2
17 hemoglobin h disease 30.0 HBQ1 HBE1 HBB HBA2 HBA1 BCL11A
18 beta-thalassemia intermedia 30.0 KLF1 HBS1L HBG2 HBG1 HBE1 HBB
19 hemoglobin c disease 29.6 OR52A1 LOC107133510 LOC106099062 KLF1 HBS1L HBQ1
20 hemolytic anemia 29.6 LOC107133510 LOC106099062 KLF1 HBS1L HBQ1 HBG2
21 malaria 29.6 LOC110006319 LOC107133510 LOC106099062 HBG2 HBE1 HBB
22 sickle cell anemia 29.5 LOC110006319 LOC107133510 LOC106099062 KLF1 HBS1L HBQ1
23 alpha-thalassemia 29.2 LOC110006319 LOC107133510 LOC106099062 KLF1 HBS1L HBQ1
24 hemoglobinopathy 29.1 ZBTB7A SOX6 LOC110006319 LOC107133510 LOC106099062 KLF1
25 deficiency anemia 29.1 LOC107133510 LOC106099062 KLF1 HBS1L HBG2 HBG1
26 beta-thalassemia major 28.7 SOX6 LOC110006319 LOC107133510 LOC106099062 KLF1 HBS1L
27 intellectual developmental disorder with persistence of fetal hemoglobin 11.7
28 sickle delta beta thalassemia 11.3
29 beta-thalassemia associated with another hemoglobin anomaly 11.3
30 fetal hemoglobin quantitative trait locus 5 11.0
31 fetal hemoglobin quantitative trait locus 2 11.0
32 fetal hemoglobin quantitative trait locus 3 11.0
33 fetal hemoglobin quantitative trait locus 6 10.8
34 hemoglobin lepore-beta-thalassemia syndrome 10.4 HBD HBB
35 cyanosis, transient neonatal 10.4 LOC106099065 HBG2
36 middle lobe syndrome 10.4 HBD HBB
37 sickle cell disease and related diseases 10.3 LOC107133510 LOC106099062 HBB
38 hemoglobin e-beta-thalassemia syndrome 10.3 LOC107133510 LOC106099062 HBB
39 ghosal hematodiaphyseal dysplasia 10.3 HBG2 HBG1
40 alpha-thalassemia myelodysplasia syndrome 10.3 HBG2 HBG1 GATA1
41 type 1 diabetes mellitus 24 10.3 HBA2 HBA1
42 thrombocytopenia with beta-thalassemia, x-linked 10.3 HBG2 GATA1
43 methemoglobinemia, beta type 10.3 LOC110006319 LOC107133510 LOC106099062 HBB
44 beta-thalassemia, dominant inclusion body type 10.3 LOC110006319 LOC107133510 LOC106099062 HBB
45 immune hydrops fetalis 10.3 HBA2 HBA1
46 type 1 diabetes mellitus 7 10.3 HBA2 HBA1
47 glutathione peroxidase deficiency 10.3 HBB HBA2 HBA1
48 immature cataract 10.3 HBA2 HBA1
49 autosomal dominant secondary polycythemia 10.3 HBB HBA2 HBA1
50 febrile seizures, familial, 6 10.2 HBB HBA2 HBA1

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

Human phenotypes related to Fetal Hemoglobin Quantitative Trait Locus 1:

58 30
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 microcytic anemia 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001935
2 abnormal hemoglobin 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0011902
3 anemia 58 Very frequent (99-80%)
4 persistence of hemoglobin f 30 HP:0011904

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Hematology:
persistence of fetal hemoglobin (5-30% hbf)

Clinical features from OMIM®:

141749 (Updated 08-Dec-2022)

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

25 (show all 21)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-104 9.72 HBG1
2 Increased shRNA abundance (Z-score > 2) GR00366-A-113 9.72 HBA1 HBA2
3 Increased shRNA abundance (Z-score > 2) GR00366-A-121 9.72 HBG1
4 Increased shRNA abundance (Z-score > 2) GR00366-A-123 9.72 HBG1
5 Increased shRNA abundance (Z-score > 2) GR00366-A-140 9.72 HBA1 HBA2
6 Increased shRNA abundance (Z-score > 2) GR00366-A-148 9.72 HBE1
7 Increased shRNA abundance (Z-score > 2) GR00366-A-153 9.72 HBG1
8 Increased shRNA abundance (Z-score > 2) GR00366-A-163 9.72 HBG1
9 Increased shRNA abundance (Z-score > 2) GR00366-A-164 9.72 HBE1
10 Increased shRNA abundance (Z-score > 2) GR00366-A-176 9.72 HBE1
11 Increased shRNA abundance (Z-score > 2) GR00366-A-177 9.72 HBE1
12 Increased shRNA abundance (Z-score > 2) GR00366-A-181 9.72 HBA1 HBA2
13 Increased shRNA abundance (Z-score > 2) GR00366-A-23 9.72 HBE1
14 Increased shRNA abundance (Z-score > 2) GR00366-A-29 9.72 HBG1
15 Increased shRNA abundance (Z-score > 2) GR00366-A-35 9.72 HBG1
16 Increased shRNA abundance (Z-score > 2) GR00366-A-47 9.72 HBG1
17 Increased shRNA abundance (Z-score > 2) GR00366-A-48 9.72 HBA1 HBA2
18 Increased shRNA abundance (Z-score > 2) GR00366-A-55 9.72 HBG1
19 Increased shRNA abundance (Z-score > 2) GR00366-A-63 9.72 HBG1
20 Increased shRNA abundance (Z-score > 2) GR00366-A-72 9.72 HBG1
21 Increased shRNA abundance (Z-score > 2) GR00366-A-77 9.72 HBG1

Drugs & Therapeutics for Fetal Hemoglobin Quantitative Trait Locus 1

Drugs for Fetal Hemoglobin Quantitative Trait Locus 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Chrysarobin

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Influence of Fetal Haemoglobin on Cerebral and Peripheral Oxygenation in Term and Preterm Neonates During the First Two Weeks After Birth Measured by Near Infrared Spectroscopy- a Prospective Observational Pilot Study Recruiting NCT04802629

Search 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:

# Genetic test Affiliating Genes
1 Fetal Hemoglobin Quantitative Trait Locus 1 28
2 Delta-Beta-Thalassemia 28
3 Hereditary Persistence of Fetal Hemoglobin 28 HBB HBG2

Anatomical Context for Fetal Hemoglobin Quantitative Trait Locus 1

Organs/tissues related to Fetal Hemoglobin Quantitative Trait Locus 1:

MalaCards : Bone Marrow, Myeloid, Bone, Fetal Liver, Spleen, Kidney, Pancreas

Publications for Fetal Hemoglobin Quantitative Trait Locus 1

Articles related to Fetal Hemoglobin Quantitative Trait Locus 1:

(show top 50) (show all 1151)
# Title Authors PMID Year
1
The Greek A gamma beta+-HPFH observed in a large black family. 62 57 5
2441598 1987
2
The British form of hereditary persistence of fetal hemoglobin results from a single base mutation adjacent to an S1 hypersensitive site 5' to the A gamma globin gene. 62 57 5
2430647 1986
3
Chinese A gamma fetal hemoglobin: C to T substitution at position-196 of the A gamma gene promoter. 62 57 5
2423160 1986
4
G gamma beta+ hereditary persistence of fetal hemoglobin: cosmid cloning and identification of a specific mutation 5' to the G gamma gene. 62 57 5
6205403 1984
5
A form of hereditary persistence of fetal haemoglobin characterized by uneven cellular distribution of haemoglobin F and the production of haemoglobins A and A2 in homozygotes. 62 57 5
811241 1975
6
A Genetic Variant Ameliorates β-Thalassemia Severity by Epigenetic-Mediated Elevation of Human Fetal Hemoglobin Expression. 57 5
28669403 2017
7
Deletion of the beta-globin structure gene in hereditary persistence of foetal haemoglobin. 57 5
1186896 1975
8
A functional element necessary for fetal hemoglobin silencing. 62 57
21879898 2011
9
Multiplex ligation-dependent probe amplification identification of 17 different beta-globin gene deletions (including four novel mutations) in the UK population. 62 5
19958185 2009
10
Identification of novel candidate genes for globin regulation in erythroid cells containing large deletions of the human beta-globin gene cluster. 62 57
16952470 2006
11
DNA diagnosis confirms hemoglobin deletion in newborn screen follow-up. 62 57
12640388 2003
12
A novel C-->A transversion within the distal CCAAT motif of the Ggamma-globin gene in the Algerian Ggammabeta+-hereditary persistence of fetal hemoglobin. 62 5
10335983 1999
13
Genetics of Hb F/F cell variance in adults and heterocellular hereditary persistence of fetal hemoglobin. 62 57
9859924 1998
14
Molecular basis of hereditary persistence of fetal hemoglobin. 62 57
9668525 1998
15
The Cretan type of non-deletional hereditary persistence of fetal hemoglobin [A gamma-158C-->T] results from two independent gene conversion events. 62 5
9703422 1998
16
The molecular basis of HPFH in a British family identified by heteroduplex formation. 62 5
7687855 1993
17
Molecular characterisation of Vietnamese HPFH. 62 57
7689901 1993
18
A single point mutation is the cause of the Greek form of hereditary persistence of fetal haemoglobin. 62 5
1379347 1992
19
Normal delta-globin gene sequences in Sardinian nondeletional delta beta-thalassemia. 62 5
1487421 1992
20
The Georgia type of nondeletional hereditary persistence of fetal hemoglobin has a C---T mutation at nucleotide-114 of the A gamma-globin gene. 62 5
1704803 1991
21
A novel C-T transition within the distal CCAAT motif of the G gamma-globin gene in the Japanese HPFH: implication of factor binding in elevated fetal globin expression. 62 5
1698280 1990
22
A case of hereditary persistence of fetal hemoglobin caused by a gene not linked to the beta-globin cluster. 62 57
2472351 1989
23
Nucleotide variations in the 3' A gamma enhancer region are linked to beta-gene cluster haplotypes and are unrelated to fetal hemoglobin expression. 62 57
2472742 1989
24
The homozygous state of G to A--117A gamma hereditary persistence of fetal hemoglobin. 62 5
2469505 1989
25
The -117 mutation in Greek HPFH affects the binding of three nuclear factors to the CCAAT region of the gamma-globin gene. 62 5
3181130 1988
26
Hemoglobin F production in heterocellular hereditary persistence of fetal hemoglobin and its linkage to the beta globin gene complex. 62 57
2458313 1988
27
A frequent A gamma-hereditary persistence of fetal hemoglobin in northern Sardinia: its molecular basis and hematologic phenotype in heterozygotes and compound heterozygotes with beta-thalassemia. 62 5
2452784 1988
28
Four base-pair DNA deletion in human A gamma globin-gene promoter associated with low A gamma expression in adults. 62 5
3377986 1988
29
Gamma gene promoter and enhancer structure in Seattle variant of hereditary persistence of fetal hemoglobin. 62 57
2451548 1988
30
A fetal globin gene mutation in A gamma nondeletion hereditary persistence of fetal hemoglobin increases promoter strength in a nonerythroid cell. 62 5
2451123 1988
31
One haplotype is associated with the Swiss type of hereditary persistence of fetal hemoglobin in the Yugoslavian population. 62 57
2443439 1987
32
Point mutation associated with hereditary persistence of fetal hemoglobin decreases RNA polymerase III transcription upstream of the affected gamma-globin gene. 62 57
2431298 1986
33
Concordance of a point mutation 5' to the A gamma-globin gene with A gamma beta + hereditary persistence of fetal hemoglobin in Greeks. 62 5
2417646 1986
34
A point mutation in the A gamma-globin gene promoter in Greek hereditary persistence of fetal haemoglobin. 62 57
2578620 1985
35
G to A substitution in the distal CCAAT box of the A gamma-globin gene in Greek hereditary persistence of fetal haemoglobin. 62 57
2578619 1985
36
Concordance of a point mutation 5' to the G gamma globin gene with G gamma beta +. Hereditary persistence of fetal hemoglobin in the black population. 62 5
6208955 1984
37
Increased HbF in sickle cell anemia is determined by a factor linked to the beta S gene from one parent. 62 57
6197115 1984
38
Heterocellular hereditary persistence of fetal hemoglobin (HPFH). Molecular mechanisms of abnormal gamma-gene expression in association with beta thalassemia and linkage relationship with the beta-globin gene cluster. 62 57
6201431 1984
39
Different 3' end points of deletions causing delta beta-thalassemia and hereditary persistence of fetal hemoglobin: implications for the control of gamma-globin gene expression in man. 62 57
6196781 1983
40
Restriction endonuclease mapping of gamma-delta-beta-globin region in G gamma (beta)+ HPFH and a Chinese A gamma HPFH variant. 62 57
6192712 1983
41
A gene controlling fetal hemoglobin expression in adults is not linked to the non-alpha globin cluster. 62 57
6196196 1983
42
Post-natal decline of fetal haemoglobin in homozygous sickle cell disease: relationship to parenteral Hb F levels. 62 57
6181802 1982
43
Molecular comparison of delta beta-thalassemia and hereditary persistence of fetal hemoglobin DNAs: evidence of a regulatory area? 62 57
6179097 1982
44
A gene deletion ending at the midpoint of a repetitive DNA sequence in one form of hereditary persistence of fetal haemoglobin. 62 57
6174873 1982
45
The gamma-delta-beta-globin gene region in G gamma-beta +-hereditary persistence of fetal hemoglobin. 62 57
6174163 1982
46
Greek (A gamma) variant of hereditary persistence of fetal haemoglobin: globin gene organization and studies of expression of fetal haemoglobins in clonal erythroid cultures. 62 57
6175332 1982
47
Linkage analysis of nondeletion hereditary persistence of fetal hemoglobin. 62 57
6186021 1982
48
Genetic regulation of gamma gene expression: study of the interaction of beta-thalassemia with heterocellular HPFH. 62 57
6169619 1981
49
beta Thalassemia associated with increased HB F production. Evidence for the existence of a heterocellular hereditary persistence of fetal hemoglobin (HPFH) determinant linked to beta thalassemia in a southern Italian population. 62 57
6162827 1981
50
Heterogeneity in the molecular basis of hereditary persistence of fetal haemoglobin. 62 57
6154897 1980

Variations for Fetal Hemoglobin Quantitative Trait Locus 1

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

5 (show top 50) (show all 73)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 LOC106099064, HBG1 NM_000559.3(HBG1):c.-29G>A SNV Pathogenic
1048099 rs368698783 GRCh37: 11:5271063-5271063
GRCh38: 11:5249833-5249833
2 LOC110006319, HBB, LOC107133510 NM_000518.5(HBB):c.316-106C>G SNV Pathogenic
15457 rs34690599 GRCh37: 11:5247062-5247062
GRCh38: 11:5225832-5225832
3 LOC106099062, LOC110006319, HBB, LOC107133510 NM_000518.5(HBB):c.315+1G>A SNV Pathogenic
15438 rs33945777 GRCh37: 11:5247806-5247806
GRCh38: 11:5226576-5226576
4 LOC106099062, HBB, LOC107133510 NM_000518.5(HBB):c.118C>T (p.Gln40Ter) SNV Pathogenic
15402 rs11549407 GRCh37: 11:5248004-5248004
GRCh38: 11:5226774-5226774
5 LOC106099062, HBB, LOC107133510 NM_000518.5(HBB):c.93-21G>A SNV Pathogenic
Pathogenic
15454 rs35004220 GRCh37: 11:5248050-5248050
GRCh38: 11:5226820-5226820
6 LOC106099062, HBB, LOC107133510 NM_000518.5(HBB):c.92+6T>C SNV Pathogenic
Uncertain Significance
15450 rs35724775 GRCh37: 11:5248154-5248154
GRCh38: 11:5226924-5226924
7 LOC106099062, HBB, LOC107133510 NM_000518.5(HBB):c.92+5G>C SNV Pathogenic
15447 rs33915217 GRCh37: 11:5248155-5248155
GRCh38: 11:5226925-5226925
8 LOC106099062, HBB, LOC107133510 NM_000518.5(HBB):c.92+1G>A SNV Pathogenic
Pathogenic
15436 rs33971440 GRCh37: 11:5248159-5248159
GRCh38: 11:5226929-5226929
9 LOC106099062, HBB, LOC107133510 NM_000518.5(HBB):c.52A>T (p.Lys18Ter) SNV Pathogenic
15401 rs33986703 GRCh37: 11:5248200-5248200
GRCh38: 11:5226970-5226970
10 HBB, LOC106099062, LOC107133510 NM_000518.5(HBB):c.-79A>G SNV Pathogenic
15469 rs34598529 GRCh37: 11:5248330-5248330
GRCh38: 11:5227100-5227100
11 HBB, LOC106099062, LOC107133510 NM_000518.4(HBB):c.-137C>A SNV Pathogenic
36285 rs33941377 GRCh37: 11:5248388-5248388
GRCh38: 11:5227158-5227158
12 HBB HBB, 106-KB DEL INSERT Pathogenic
Pathogenic
29751 GRCh37:
GRCh38:
13 LOC106099062, HBB, LOC107133510 NM_000518.5(HBB):c.126_129del (p.Phe42fs) DEL Pathogenic
15417 rs80356821 GRCh37: 11:5247993-5247996
GRCh38: 11:5226763-5226766
14 LOC106099062, HBB, LOC107133510 NM_000518.5(HBB):c.20A>T (p.Glu7Val) SNV Pathogenic
Pathogenic
Likely Benign
15333 rs334 GRCh37: 11:5248232-5248232
GRCh38: 11:5227002-5227002
15 LOC106099062, HBB, LOC107133510 NM_000518.4(HBB):c.19G>A (p.Glu7Lys) SNV Pathogenic
15126 rs33930165 GRCh37: 11:5248233-5248233
GRCh38: 11:5227003-5227003
16 LOC110006319, HBB, LOC107133510 NM_000518.4(HBB):c.364G>A (p.Glu122Lys) SNV Pathogenic
15292 rs33946267 GRCh37: 11:5246908-5246908
GRCh38: 11:5225678-5225678
17 LOC106099062, HBB, LOC107133510 NM_000518.5(HBB):c.79G>A (p.Glu27Lys) SNV Pathogenic
15161 rs33950507 GRCh37: 11:5248173-5248173
GRCh38: 11:5226943-5226943
18 LOC106099062, HBB, LOC107133510 NM_000518.5(HBB):c.17_18del (p.Pro6fs) DEL Pathogenic
15422 rs34889882 GRCh37: 11:5248234-5248235
GRCh38: 11:5227004-5227005
19 HBG2, LOC106099065 NM_000184.2(HBG2):c.-167C>T SNV Pathogenic
14990 rs34809449 GRCh37: 11:5276125-5276125
GRCh38: 11:5254895-5254895
20 HBG2, LOC106099065 NM_000184.2(HBG2):c.-167C>A SNV Pathogenic
15001 rs34809449 GRCh37: 11:5276125-5276125
GRCh38: 11:5254895-5254895
21 HBG1, LOC106099064 NM_000559.2(HBG1):c.-170G>A SNV Pathogenic
15030 rs35378915 GRCh37: 11:5271204-5271204
GRCh38: 11:5249974-5249974
22 HBG1, LOC106099064 NM_000559.2(HBG1):c.-53-198T>C SNV Pathogenic
15031 rs35710727 GRCh37: 11:5271285-5271285
GRCh38: 11:5250055-5250055
23 HBG1, LOC106099064 NM_000559.2(HBG1):c.-53-196C>T SNV Pathogenic
15033 rs35983258 GRCh37: 11:5271283-5271283
GRCh38: 11:5250053-5250053
24 HBG1, LOC106099064 NM_000559.2(HBG1):c.-53-195C>G SNV Pathogenic
15034 rs35321913 GRCh37: 11:5271282-5271282
GRCh38: 11:5250052-5250052
25 HBG1, LOC106099064 NM_000559.2(HBG1):c.-167C>T SNV Pathogenic
15035 rs281860601 GRCh37: 11:5271201-5271201
GRCh38: 11:5249971-5249971
26 HBG1, LOC106099064 NG_000007.3:g.47601C>T SNV Pathogenic
15040 GRCh37: 11:5271245-5271245
GRCh38: 11:5250015-5250015
27 HBG2 NG_000007.3:g.42268T>G SNV Pathogenic
29754 GRCh37: 11:5276578-5276578
GRCh38: 11:5255348-5255348
28 HBG2, LOC106099065 NM_000184.2(HBG2):c.-255C>G SNV Pathogenic
14982 rs35617911 GRCh37: 11:5276213-5276213
GRCh38: 11:5254983-5254983
29 HBG2, LOC106099065 NM_000184.2(HBG2):c.-228T>C SNV Pathogenic
14983 rs63750654 GRCh37: 11:5276186-5276186
GRCh38: 11:5254956-5254956
30 LOC106099062, HBB, LOC107133510 NM_000518.4(HBB):c.208G>A (p.Gly70Ser) SNV Likely Pathogenic
Uncertain Significance
Not Provided
15138 rs33947415 GRCh37: 11:5247914-5247914
GRCh38: 11:5226684-5226684
31 HBB, LOC106099062, LOC107133510 NM_000518.5(HBB):c.-138C>A SNV Likely Pathogenic
393701 rs33944208 GRCh37: 11:5248389-5248389
GRCh38: 11:5227159-5227159
32 LOC110006319, HBB, LOC107133510 NM_000518.5(HBB):c.*59A>G SNV Uncertain Significance
878836 rs1345009528 GRCh37: 11:5246769-5246769
GRCh38: 11:5225539-5225539
33 LOC110006319, HBB, LOC107133510 NM_000518.5(HBB):c.*18C>A SNV Uncertain Significance
879417 rs1348310843 GRCh37: 11:5246810-5246810
GRCh38: 11:5225580-5225580
34 LOC106099062, HBB, LOC107133510 NM_000518.5(HBB):c.85C>T (p.Leu29=) SNV Uncertain Significance
879840 rs33958088 GRCh37: 11:5248167-5248167
GRCh38: 11:5226937-5226937
35 LOC110006319, HBB, LOC107133510 NM_000518.5(HBB):c.384G>C (p.Gln128His) SNV Uncertain Significance
1098525 GRCh37: 11:5246888-5246888
GRCh38: 11:5225658-5225658
36 LOC110006319, HBB, LOC107133510 NM_000518.5(HBB):c.*53C>A SNV Uncertain Significance
305001 rs886048393 GRCh37: 11:5246775-5246775
GRCh38: 11:5225545-5225545
37 LOC110006319, HBB, LOC107133510 NM_000518.5(HBB):c.*56A>T SNV Uncertain Significance
305000 rs537944366 GRCh37: 11:5246772-5246772
GRCh38: 11:5225542-5225542
38 HBD NM_000519.4(HBD):c.*91G>A SNV Uncertain Significance
305002 rs886048394 GRCh37: 11:5254103-5254103
GRCh38: 11:5232873-5232873
39 LOC106099063, HBD NM_000519.4(HBD):c.76G>A (p.Gly26Ser) SNV Uncertain Significance
305005 rs886048395 GRCh37: 11:5255588-5255588
GRCh38: 11:5234358-5234358
40 HBD NM_000519.4(HBD):c.*59C>G SNV Uncertain Significance
305003 rs755421119 GRCh37: 11:5254135-5254135
GRCh38: 11:5232905-5232905
41 LOC106099063, HBD NM_000519.4(HBD):c.225C>T (p.Gly75=) SNV Uncertain Significance
305004 rs113727122 GRCh37: 11:5255311-5255311
GRCh38: 11:5234081-5234081
42 HBD NM_000519.4(HBD):c.*96G>T SNV Uncertain Significance
879524 rs1042760103 GRCh37: 11:5254098-5254098
GRCh38: 11:5232868-5232868
43 HBD NM_000519.4(HBD):c.*65T>C SNV Uncertain Significance
879525 rs1847687778 GRCh37: 11:5254129-5254129
GRCh38: 11:5232899-5232899
44 LOC106099063, HBD NM_000519.4(HBD):c.97C>T (p.Leu33=) SNV Uncertain Significance
879526 rs746437742 GRCh37: 11:5255439-5255439
GRCh38: 11:5234209-5234209
45 LOC106099063, HBD NM_000519.4(HBD):c.83C>A (p.Ala28Asp) SNV Uncertain Significance
879527 rs751533248 GRCh37: 11:5255581-5255581
GRCh38: 11:5234351-5234351
46 LOC110006319, HBB, LOC107133510 NM_000518.4(HBB):c.364G>C (p.Glu122Gln) SNV Uncertain Significance
15152 rs33946267 GRCh37: 11:5246908-5246908
GRCh38: 11:5225678-5225678
47 LOC110006319, HBB, LOC107133510 NM_000518.5(HBB):c.324C>T (p.Gly108=) SNV Uncertain Significance
36322 rs193922562 GRCh37: 11:5246948-5246948
GRCh38: 11:5225718-5225718
48 LOC106099062, HBB, LOC107133510 NM_000518.5(HBB):c.294C>T (p.His98=) SNV Uncertain Significance
439783 rs34515413 GRCh37: 11:5247828-5247828
GRCh38: 11:5226598-5226598
49 LOC106099062, HBB, LOC107133510 NM_000518.5(HBB):c.274C>T (p.Leu92=) SNV Uncertain Significance
439144 rs769583496 GRCh37: 11:5247848-5247848
GRCh38: 11:5226618-5226618
50 LOC106099062, HBB, LOC107133510 NM_000518.5(HBB):c.-31C>T SNV Uncertain Significance
36291 rs63750628 GRCh37: 11:5248282-5248282
GRCh38: 11:5227052-5227052

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:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.8 HBG2 HBG1 HBE1 HBD HBB GATA1
2
Show member pathways
12.33 HBG2 HBG1 HBE1 HBD HBB GATA1
3
Show member pathways
11.75 HBB HBA2 HBA1
4
Show member pathways
11.29 HBB HBA2 HBA1
5
Show member pathways
10.36 HBB HBA2 HBA1

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:

# Name GO ID Score Top Affiliating Genes
1 blood microparticle GO:0072562 9.93 HBG2 HBE1 HBD HBB HBA2 HBA1
2 hemoglobin complex GO:0005833 9.86 HBA1 HBA2 HBB HBD HBE1 HBG1
3 endocytic vesicle lumen GO:0071682 9.73 HBB HBA2 HBA1
4 haptoglobin-hemoglobin complex GO:0031838 9.53 HBA1 HBA2 HBB HBD HBE1 HBG1

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

# Name GO ID Score Top Affiliating Genes
1 positive regulation of cell death GO:0010942 10.17 HBA1 HBA2 HBB HBD HBE1 HBG1
2 cellular oxidant detoxification GO:0098869 10.16 HBQ1 HBG2 HBG1 HBE1 HBD HBB
3 carbon dioxide transport GO:0015670 10 HBA1 HBA2 HBB HBD HBE1 HBG1
4 response to hydrogen peroxide GO:0042542 9.88 HBB HBA2 HBA1
5 hydrogen peroxide catabolic process GO:0042744 9.86 HBQ1 HBG2 HBG1 HBE1 HBD HBB
6 nitric oxide transport GO:0030185 9.85 HBB HBA2 HBA1
7 oxygen transport GO:0015671 9.53 HBQ1 HBG2 HBG1 HBE1 HBD HBB

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

# Name GO ID Score Top Affiliating Genes
1 metal ion binding GO:0046872 10.43 ZBTB7A KLF1 HBQ1 HBG2 HBG1 HBE1
2 heme binding GO:0020037 10.31 HBA1 HBA2 HBB HBD HBE1 HBG1
3 peroxidase activity GO:0004601 10.22 HBA1 HBA2 HBB HBD HBE1 HBG1
4 oxygen binding GO:0019825 10.16 HBA1 HBA2 HBB HBD HBE1 HBG1
5 hemoglobin alpha binding GO:0031721 10.07 HBG2 HBG1 HBE1 HBD HBB
6 oxygen carrier activity GO:0005344 10.06 HBA1 HBA2 HBB HBD HBE1 HBG1
7 haptoglobin binding GO:0031720 9.86 HBA1 HBA2 HBB HBD HBE1 HBG1
8 organic acid binding GO:0043177 9.53 HBA1 HBA2 HBB HBD HBE1 HBG1

Sources for Fetal Hemoglobin Quantitative Trait Locus 1

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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