MCID: FTL036
MIFTS: 13

Fetal Hemoglobin Quantitative Trait Locus 2

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

Aliases & Classifications for Fetal Hemoglobin Quantitative Trait Locus 2

MalaCards integrated aliases for Fetal Hemoglobin Quantitative Trait Locus 2:

Name: Fetal Hemoglobin Quantitative Trait Locus 2 57 13 6
Hbfqtl2 57

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
fetal hemoglobin quantitative trait locus 2:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 142470
MedGen 42 C1840598
SNOMED-CT via HPO 69 263681008 191124002 34093004

Summaries for Fetal Hemoglobin Quantitative Trait Locus 2

OMIM : 57 Fetal hemoglobin (HbF) levels vary considerably in healthy normal adults. The distribution of HbF and F cells, erythrocytes that contain measurable HbF, in healthy adults is continuous, although most adults have HbF of less than 0.6% of total Hb. Approximately 10 to 15% of individuals have increases of HbF ranging from 0.8% to 5%, a trait often referred to as hereditary persistence of fetal hemoglobin (HPFH), usually distributed unevenly among red cells. When coinherited with beta-thalassemia (see 613985) or sickle cell anemia (603903), HPFH can increase HbF output to levels that are clinically beneficial (Thein et al., 2007). For a general phenotypic description and a discussion of loci that may affect fetal hemoglobin levels, see HBFQTL1 (141749). (142470)

MalaCards based summary : Fetal Hemoglobin Quantitative Trait Locus 2, is also known as hbfqtl2. An important gene associated with Fetal Hemoglobin Quantitative Trait Locus 2 is HBFQTL2 (Hereditary Persistence Of Fetal Hemoglobin, Heterocellular). Related phenotype is abnormality of blood and blood-forming tissues.

Related Diseases for Fetal Hemoglobin Quantitative Trait Locus 2

Symptoms & Phenotypes for Fetal Hemoglobin Quantitative Trait Locus 2

Symptoms via clinical synopsis from OMIM:

57
Heme:
heterocellular persistence of fetal hemoglobin

Misc:
only some cells have high fetal hemoglobin
interaction of hpfh with beta-thalassemia and ss disease


Clinical features from OMIM:

142470

Human phenotypes related to Fetal Hemoglobin Quantitative Trait Locus 2:

32
# Description HPO Frequency HPO Source Accession
1 abnormality of blood and blood-forming tissues 32 HP:0001871

Drugs & Therapeutics for Fetal Hemoglobin Quantitative Trait Locus 2

Search Clinical Trials , NIH Clinical Center for Fetal Hemoglobin Quantitative Trait Locus 2

Genetic Tests for Fetal Hemoglobin Quantitative Trait Locus 2

Anatomical Context for Fetal Hemoglobin Quantitative Trait Locus 2

Publications for Fetal Hemoglobin Quantitative Trait Locus 2

Variations for Fetal Hemoglobin Quantitative Trait Locus 2

ClinVar genetic disease variations for Fetal Hemoglobin Quantitative Trait Locus 2:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 NC_000006.12: g.135105435A> G single nucleotide variant Likely pathogenic rs4895441 GRCh37 Chromosome 6, 135426573: 135426573
2 NC_000006.12: g.135105435A> G single nucleotide variant Likely pathogenic rs4895441 GRCh38 Chromosome 6, 135105435: 135105435

Expression for Fetal Hemoglobin Quantitative Trait Locus 2

Search GEO for disease gene expression data for Fetal Hemoglobin Quantitative Trait Locus 2.

Pathways for Fetal Hemoglobin Quantitative Trait Locus 2

GO Terms for Fetal Hemoglobin Quantitative Trait Locus 2

Sources for Fetal Hemoglobin Quantitative Trait Locus 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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