MCID: FTL065
MIFTS: 14

Fetal Hemoglobin Quantitative Trait Locus 5

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 58 30 13 6
Fetal Hemoglobin Qtl5 58
Hbfqtl5 58

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant


HPO:

33
fetal hemoglobin quantitative trait locus 5:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 58 142335
MedGen 43 C1969758
SNOMED-CT via HPO 70 263681008

Summaries for Fetal Hemoglobin Quantitative Trait Locus 5

OMIM : 58 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 11.2

Symptoms & Phenotypes for Fetal Hemoglobin Quantitative Trait Locus 5

Human phenotypes related to Fetal Hemoglobin Quantitative Trait Locus 5:

33
# Description HPO Frequency HPO Source Accession
1 persistence of hemoglobin f 33 HP:0011904

Symptoms via clinical synopsis from OMIM:

58
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 30

Anatomical Context for Fetal Hemoglobin Quantitative Trait Locus 5

Publications for Fetal Hemoglobin Quantitative Trait Locus 5

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 Assembly Location
1 BCL11A NM_018014.3(BCL11A): c.386-24278G> A single nucleotide variant Likely pathogenic rs11886868 GRCh37 Chromosome 2, 60720246: 60720246
2 BCL11A NM_018014.3(BCL11A): c.386-24278G> A single nucleotide variant Likely pathogenic rs11886868 GRCh38 Chromosome 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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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