HBFQTL3
MCID: FTL035
MIFTS: 15

Fetal Hemoglobin Quantitative Trait Locus 3 (HBFQTL3)

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

Aliases & Classifications for Fetal Hemoglobin Quantitative Trait Locus 3

MalaCards integrated aliases for Fetal Hemoglobin Quantitative Trait Locus 3:

Name: Fetal Hemoglobin Quantitative Trait Locus 3 57 29 13
Heterocellular Hereditary Persistence of Fetal Hemoglobin, Swiss Type 57
F-Cell Production, X-Linked; Fcpx 57
F-Cell Production, X-Linked 57
Hpfh, Swiss Type 57
Hbfqtl3 57
Fcpx 57

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
x-linked (xp22.2)


HPO:

31
fetal hemoglobin quantitative trait locus 3:
Inheritance x-linked inheritance


Classifications:



External Ids:

OMIM® 57 305435
SNOMED-CT via HPO 68 191124002 263934009 34093004

Summaries for Fetal Hemoglobin Quantitative Trait Locus 3

MalaCards based summary : Fetal Hemoglobin Quantitative Trait Locus 3, is also known as heterocellular hereditary persistence of fetal hemoglobin, swiss type. An important gene associated with Fetal Hemoglobin Quantitative Trait Locus 3 is FCP1 (F-Cell Production 1). Related phenotype is abnormality of blood and blood-forming tissues.

More information from OMIM: 305435

Related Diseases for Fetal Hemoglobin Quantitative Trait Locus 3

Symptoms & Phenotypes for Fetal Hemoglobin Quantitative Trait Locus 3

Human phenotypes related to Fetal Hemoglobin Quantitative Trait Locus 3:

31
# Description HPO Frequency HPO Source Accession
1 abnormality of blood and blood-forming tissues 31 HP:0001871

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Heme:
f-cell production
f reticulocyte levels
f hemoglobin production in ss disease
? mutation can cause hereditary persistence of fetal hemoglobin

Clinical features from OMIM®:

305435 (Updated 05-Apr-2021)

Drugs & Therapeutics for Fetal Hemoglobin Quantitative Trait Locus 3

Search Clinical Trials , NIH Clinical Center for Fetal Hemoglobin Quantitative Trait Locus 3

Genetic Tests for Fetal Hemoglobin Quantitative Trait Locus 3

Genetic tests related to Fetal Hemoglobin Quantitative Trait Locus 3:

# Genetic test Affiliating Genes
1 Fetal Hemoglobin Quantitative Trait Locus 3 29

Anatomical Context for Fetal Hemoglobin Quantitative Trait Locus 3

Publications for Fetal Hemoglobin Quantitative Trait Locus 3

Articles related to Fetal Hemoglobin Quantitative Trait Locus 3:

# Title Authors PMID Year
1
The relative importance of the X-linked FCP locus and beta-globin haplotypes in determining haemoglobin F levels: a study of SS patients homozygous for beta S haplotypes. 57
9074425 1997
2
An analysis of fetal hemoglobin variation in sickle cell disease: the relative contributions of the X-linked factor, beta-globin haplotypes, alpha-globin gene number, gender, and age. 57
7531513 1995
3
Fetal hemoglobin levels in sickle cell disease and normal individuals are partially controlled by an X-linked gene located at Xp22.2. 57
1379090 1992
4
X-linked dominant control of F-cells in normal adult life: characterization of the Swiss type as hereditary persistence of fetal hemoglobin regulated dominantly by gene(s) on X chromosome. 57
2461753 1988
5
Increased HbF in sickle cell anemia is determined by a factor linked to the beta S gene from one parent. 61
6197115 1984

Variations for Fetal Hemoglobin Quantitative Trait Locus 3

Expression for Fetal Hemoglobin Quantitative Trait Locus 3

Search GEO for disease gene expression data for Fetal Hemoglobin Quantitative Trait Locus 3.

Pathways for Fetal Hemoglobin Quantitative Trait Locus 3

GO Terms for Fetal Hemoglobin Quantitative Trait Locus 3

Sources for Fetal Hemoglobin Quantitative Trait Locus 3

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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