MCID: FTL033
MIFTS: 34

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 delta beta thalassemia and hereditary persistence of fetal hemoglobin, klf1-related, 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.

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 top 50)    (show all 145)
idRelated DiseaseScoreTop Affiliating Genes
1sickle delta beta thalassemia12.7
2hereditary persistence of fetal hemoglobin, klf1-related12.7
3hereditary persistence of fetal hemoglobin-sickle cell disease syndrome12.7
4hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome12.7
5thalassemia, hispanic gamma-delta-beta11.9
6fetal hemoglobin quantitative trait locus 210.6
7prostatitis10.4
8hodgkin lymphoma10.3
9alopecia10.3
10restless legs syndrome10.3
11lymphoma10.3
12trypanosomiasis10.3
13melanoma10.3
14adenocarcinoma10.3
15thyroiditis10.3
16endotheliitis10.3
17pheochromocytoma10.2
18rheumatoid arthritis10.2
19colorectal cancer10.2
20systemic lupus erythematosus10.2
21hiv-110.2
22prostate cancer10.2
23breast cancer10.2
24obesity10.2
25attention deficit-hyperactivity disorder10.2
26leprosy10.2
27keratitis10.2
28endometrial cancer10.2
29machado-joseph disease10.2
30insulin-like growth factor i10.2
31rubinstein-taybi syndrome10.2
32kbg syndrome10.2
33kawasaki disease10.2
34creutzfeldt-jakob disease10.2
35arthritis10.2
36burns10.2
37charcot-marie-tooth disease10.2
38hereditary ataxia10.2
39liver disease10.2
40myasthenia gravis10.2
41thrombocytopenia10.2
42antley-bixler syndrome10.2
43vitelliform macular dystrophy10.2
44artery disease10.2
45colorectal adenocarcinoma10.2
46infective endocarditis10.2
47uvulitis10.2
48sleeping sickness10.2
49venous insufficiency10.2
50cholelithiasis10.2

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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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