HBFQTL5
MCID: FTL065
MIFTS: 15

Fetal Hemoglobin Quantitative Trait Locus 5 (HBFQTL5)

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

Aliases & Classifications for Fetal Hemoglobin Quantitative Trait Locus 5

MalaCards integrated aliases for Fetal Hemoglobin Quantitative Trait Locus 5:

Name: Fetal Hemoglobin Quantitative Trait Locus 5 57 29 13 6
Fetal Hemoglobin Qtl5 57
Hbfqtl5 57

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
fetal hemoglobin quantitative trait locus 5:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 142335
MedGen 42 C1969758

Summaries for Fetal Hemoglobin Quantitative Trait Locus 5

OMIM : 57 In healthy adults, fetal hemoglobin (HbF) is present at residual levels (less than 0.06% of total hemoglobin) with over 20-fold variation. Ten to fifteen percent of adults fall within the upper tail of the distribution and have HbF levels between 0.8% and 5%, a condition referred to as heterocellular hereditary persistence of fetal hemoglobin Although these HbF levels are modest in otherwise healthy individuals, interaction of heterocellular HPFH with beta-thalassemia (see 613985) or sickle cell disease (SS; 603903) can increase HbF output in these individuals to levels that are clinically beneficial (Menzel et al., 2007). For a general phenotypic description and a discussion of loci that may affect fetal hemoglobin levels, see HBFQTL1 (141749). (142335)

MalaCards based summary : Fetal Hemoglobin Quantitative Trait Locus 5, also known as fetal hemoglobin qtl5, is related to chromosome 2p16.1-p15 deletion syndrome. An important gene associated with Fetal Hemoglobin Quantitative Trait Locus 5 is BCL11A (BAF Chromatin Remodeling Complex Subunit BCL11A). Related phenotype is persistence of hemoglobin f.

Related Diseases for Fetal Hemoglobin Quantitative Trait Locus 5

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 5 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 chromosome 2p16.1-p15 deletion syndrome 11.3

Symptoms & Phenotypes for Fetal Hemoglobin Quantitative Trait Locus 5

Human phenotypes related to Fetal Hemoglobin Quantitative Trait Locus 5:

32
# Description HPO Frequency HPO Source Accession
1 persistence of hemoglobin f 32 HP:0011904

Symptoms via clinical synopsis from OMIM:

57
Hematology:
persistence of fetal hemoglobin

Clinical features from OMIM:

142335

Drugs & Therapeutics for Fetal Hemoglobin Quantitative Trait Locus 5

Search Clinical Trials , NIH Clinical Center for Fetal Hemoglobin Quantitative Trait Locus 5

Genetic Tests for Fetal Hemoglobin Quantitative Trait Locus 5

Genetic tests related to Fetal Hemoglobin Quantitative Trait Locus 5:

# Genetic test Affiliating Genes
1 Fetal Hemoglobin Quantitative Trait Locus 5 29

Anatomical Context for Fetal Hemoglobin Quantitative Trait Locus 5

Publications for Fetal Hemoglobin Quantitative Trait Locus 5

Articles related to Fetal Hemoglobin Quantitative Trait Locus 5:

# Title Authors PMID Year
1
Fine-mapping at three loci known to affect fetal hemoglobin levels explains additional genetic variation. 8
21057501 2010
2
DNA polymorphisms at the BCL11A, HBS1L-MYB, and beta-globin loci associate with fetal hemoglobin levels and pain crises in sickle cell disease. 8
18667698 2008
3
Genome-wide association study shows BCL11A associated with persistent fetal hemoglobin and amelioration of the phenotype of beta-thalassemia. 8
18245381 2008
4
A QTL influencing F cell production maps to a gene encoding a zinc-finger protein on chromosome 2p15. 8
17767159 2007

Variations for Fetal Hemoglobin Quantitative Trait Locus 5

ClinVar genetic disease variations for Fetal Hemoglobin Quantitative Trait Locus 5:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 BCL11A NM_018014.4(BCL11A): c.386-24278G> A single nucleotide variant Benign rs11886868 2:60720246-60720246 2:60493111-60493111

Expression for Fetal Hemoglobin Quantitative Trait Locus 5

Search GEO for disease gene expression data for Fetal Hemoglobin Quantitative Trait Locus 5.

Pathways for Fetal Hemoglobin Quantitative Trait Locus 5

GO Terms for Fetal Hemoglobin Quantitative Trait Locus 5

Sources for Fetal Hemoglobin Quantitative Trait Locus 5

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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