MCID: FTL033
MIFTS: 36

Fetal Hemoglobin Quantitative Trait Locus 1 malady

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

Aliases & Classifications for Fetal Hemoglobin Quantitative Trait Locus 1

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Sources:
49OMIM, 22GeneTests, 24GTR, 11diseasecard, 65UMLS, 51Orphanet, 28ICD10 via Orphanet, 66UMLS via Orphanet, 27ICD10, 61The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Fetal Hemoglobin Quantitative Trait Locus 1:

Name: Fetal Hemoglobin Quantitative Trait Locus 1 49 22 24
Delta-Beta Thalassemia 49 11 65
Hereditary Persistence of Fetal Hemoglobin 49 22
Hereditary Persistence of Fetal Hemoglobin Thalassemia 65
 
Hereditary Persistence of Hemoglobin F 22
Hemoglobin F, Heredtary Persistence of 22
Delta-Beta-Thalassemia 51
Hpfh 22

Characteristics:

Orphanet epidemiological data:

51
delta-beta-thalassemia:
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal

HPO:

61
fetal hemoglobin quantitative trait locus 1:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM49 141749
Orphanet51 231237
ICD10 via Orphanet28 D56.2
UMLS via Orphanet66 C0271985
ICD1027 D56.2, D56.4
UMLS65 C0271985, C0271994

Summaries for Fetal Hemoglobin Quantitative Trait Locus 1

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OMIM:49 Classic hereditary persistence of fetal hemoglobin (HPFH) is characterized by a substantial elevation of fetal... (141749) more...

MalaCards based summary: Fetal Hemoglobin Quantitative Trait Locus 1, also known as delta-beta thalassemia, is related to sickle cell anemia and sickle delta beta thalassemia, and has symptoms including abnormality of the heme biosynthetic pathway, microcytic anemia and persistence of hemoglobin f. An important gene associated with Fetal Hemoglobin Quantitative Trait Locus 1 is HBB (Hemoglobin Subunit Beta), and among its related pathways are Platelet activation, signaling and aggregation and Factors involved in megakaryocyte development and platelet production. Affiliated tissues include prostate, liver and endothelial.

Related Diseases for Fetal Hemoglobin Quantitative Trait Locus 1

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Diseases in the Fetal Hemoglobin Quantitative Trait Locus 1 family:

Fetal Hemoglobin Quantitative Trait Locus 2 Fetal Hemoglobin Quantitative Trait Locus 4
Fetal Hemoglobin Quantitative Trait Locus 3

Diseases related to Fetal Hemoglobin Quantitative Trait Locus 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 39)
idRelated DiseaseScoreTop Affiliating Genes
1sickle cell anemia28.4HBB, HBD, HBG1, HBG2
2sickle delta beta thalassemia12.3
3hereditary persistence of fetal hemoglobin, klf1-related12.3
4hereditary persistence of fetal hemoglobin-sickle cell disease syndrome12.3
5hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome12.3
6thalassemia, hispanic gamma-delta-beta11.5
7thalassemia10.7
8fetal hemoglobin quantitative trait locus 210.2
9hypotrichosis-deafness syndrome10.2HBB, HBD
10hemoglobin e disease10.1HBB, HBD
11panophthalmitis10.1HBB, HBD
12chronic congestive splenomegaly10.1HBB, HBD
13basal cell carcinoma10.1HBB, HBD
14active peptic ulcer disease10.1HBB, HBD
15marantic endocarditis10.1HBB, HBD
16swayback10.0HBB, HBD
17malignant hypertension10.0HBB, HBD
18hemoglobinopathy10.0HBB, HBD
19generalized anxiety disorder9.9HBB, HBD
20conjunctivitis9.9
21delta-thalassemia9.9
22mental retardation, x-linked 39.9HBB, HBD
23acute kidney failure9.9HBB, HBG1
24protoporphyria, erythropoietic, x-linked9.7HBB, HBD
25congenital nonspherocytic hemolytic anemia9.6HBB, HBD, HBG1
26queensland tick typhus9.5HBB, HBG2
27hemophagocytic lymphohistiocytosis9.5HBB, HBG2
28endometrial adenocarcinoma9.4HBB, HBD, HBG2
29qazi markouizos syndrome9.3HBB, HBD, HBG2
30y-linked disease9.3HBB, HBD, HBG2
31proximal renal tubular acidosis9.3HBB, HBG1, HBG2
32recurrent infections-inflammatory syndrome due to zinc metabolism disorder syndrome9.3HBB, HBG1, HBG2
33thalassemia-beta, dominant inclusion-body9.3HBB, HBG1, HBG2
34tendinitis9.3HBB, HBG2
35cyanosis, transient neonatal8.8HBB, HBD, HBG1, HBG2
36malignant adult ependymoma8.8HBB, HBD, HBG1, HBG2
37snyder-robinson syndrome8.8HBB, HBD, HBG1, HBG2
38hemoglobin h disease, nondeletional8.8HBB, HBD, HBG1, HBG2
39thromboangiitis obliterans8.8HBB, HBD, HBG1, HBG2

Graphical network of the top 20 diseases related to Fetal Hemoglobin Quantitative Trait Locus 1:



Diseases related to fetal hemoglobin quantitative trait locus 1

Symptoms for Fetal Hemoglobin Quantitative Trait Locus 1

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Symptoms by clinical synopsis from OMIM:

141749

Clinical features from OMIM:

141749

Symptoms:

 51
  • anaemia
  • microcytic anemia
  • hemoglobinosis/hemoglobinopathy

HPO human phenotypes related to Fetal Hemoglobin Quantitative Trait Locus 1:

id Description Frequency HPO Source Accession
1 abnormality of the heme biosynthetic pathway hallmark (90%) HP:0010472
2 microcytic anemia hallmark (90%) HP:0001935
3 persistence of hemoglobin f HP:0011904

Drugs & Therapeutics for Fetal Hemoglobin Quantitative Trait Locus 1

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Fetal Hemoglobin Quantitative Trait Locus 1

Genetic Tests for Fetal Hemoglobin Quantitative Trait Locus 1

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Genetic tests related to Fetal Hemoglobin Quantitative Trait Locus 1:

id Genetic test Affiliating Genes
1 Fetal Hemoglobin Quantitative Trait Locus 122
2 Hereditary Persistence of Fetal Hemoglobin22 HBD

Anatomical Context for Fetal Hemoglobin Quantitative Trait Locus 1

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MalaCards organs/tissues related to Fetal Hemoglobin Quantitative Trait Locus 1:

33
Prostate, Liver, Endothelial, Breast, Thyroid, Kidney, Heart

Animal Models for Fetal Hemoglobin Quantitative Trait Locus 1 or affiliated genes

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Publications for Fetal Hemoglobin Quantitative Trait Locus 1

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Variations for Fetal Hemoglobin Quantitative Trait Locus 1

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Clinvar genetic disease variations for Fetal Hemoglobin Quantitative Trait Locus 1:

5 (show all 12)
id Gene Variation Type Significance SNP ID Assembly Location
1HBG2NM_000184.2(HBG2): c.-255C> Gsingle nucleotide variantPathogenicrs35617911GRCh37Chr 11, 5276213: 5276213
2HBG2NM_000184.2(HBG2): c.-228T> Csingle nucleotide variantPathogenicrs63750654GRCh37Chr 11, 5276186: 5276186
3HBG2NM_000184.2(HBG2): c.-167C> Tsingle nucleotide variantPathogenicrs34809449GRCh37Chr 11, 5276125: 5276125
4HBG2NM_000184.2(HBG2): c.-167C> Asingle nucleotide variantPathogenicrs34809449GRCh37Chr 11, 5276125: 5276125
5HBG1NM_000559.2(HBG1): c.-170G> Asingle nucleotide variantPathogenicrs35378915GRCh37Chr 11, 5271204: 5271204
6HBG1NM_000559.2(HBG1): c.-251T> Csingle nucleotide variantPathogenicrs35710727GRCh37Chr 11, 5271285: 5271285
7HBG1NM_000559.2(HBG1): c.-53-196C> Tsingle nucleotide variantPathogenicrs35983258GRCh37Chr 11, 5271283: 5271283
8HBG1NM_000559.2(HBG1): c.-53-195C> Gsingle nucleotide variantPathogenicrs35321913GRCh37Chr 11, 5271282: 5271282
9HBG1NM_000559.2(HBG1): c.-167C> Tsingle nucleotide variantPathogenicrs281860601GRCh37Chr 11, 5271201: 5271201
10HBG1HBG1, C-T, -158single nucleotide variantPathogenic
11HBBHBB, 106-KB DELdeletionPathogenic
12HBG2HBG2, T-G, -567single nucleotide variantPathogenic

Expression for genes affiliated with Fetal Hemoglobin Quantitative Trait Locus 1

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Search GEO for disease gene expression data for Fetal Hemoglobin Quantitative Trait Locus 1.

Pathways for genes affiliated with Fetal Hemoglobin Quantitative Trait Locus 1

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Pathways related to Fetal Hemoglobin Quantitative Trait Locus 1 according to GeneCards Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
8.0HBB, HBD, HBG1, HBG2
28.0HBB, HBD, HBG1, HBG2

GO Terms for genes affiliated with Fetal Hemoglobin Quantitative Trait Locus 1

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Cellular components related to Fetal Hemoglobin Quantitative Trait Locus 1 according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1hemoglobin complexGO:00058339.2HBD, HBG1, HBG2
2cytosolGO:00058298.6HBB, HBD, HBG2

Molecular functions related to Fetal Hemoglobin Quantitative Trait Locus 1 according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1oxygen transporter activityGO:00053448.5HBD, HBG1, HBG2
2oxygen bindingGO:00198258.5HBD, HBG1, HBG2

Sources for Fetal Hemoglobin Quantitative Trait Locus 1

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet