MCID: FTL035
MIFTS: 14

Fetal Hemoglobin Quantitative Trait Locus 3

Categories: Fetal diseases, Blood 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 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
Inheritance:
x-linked (xp22.2)


HPO:

32
fetal hemoglobin quantitative trait locus 3:
Inheritance x-linked inheritance


Classifications:



External Ids:

OMIM 57 305435
MedGen 42 C1844568
SNOMED-CT via HPO 69 263934009 191124002 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.

Description from OMIM: 305435

Related Diseases for Fetal Hemoglobin Quantitative Trait Locus 3

Symptoms & Phenotypes for Fetal Hemoglobin Quantitative Trait Locus 3

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Fetal Hemoglobin Quantitative Trait Locus 3:

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 3

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

Genetic Tests for Fetal Hemoglobin Quantitative Trait Locus 3

Anatomical Context for Fetal Hemoglobin Quantitative Trait Locus 3

Publications for Fetal Hemoglobin Quantitative Trait Locus 3

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 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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