MCID: FTL033
MIFTS: 33

Fetal Hemoglobin Quantitative Trait Locus 1 malady

Genetic diseases, Immune diseases, Blood diseases, Rare diseases categories

Aliases & Classifications for Fetal Hemoglobin Quantitative Trait Locus 1

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Sources:
49OMIM, 22GeneTests, 24GTR, 65UMLS, 11diseasecard, 51Orphanet, 28ICD10 via Orphanet, 66UMLS via Orphanet, 27ICD10
See all sources

Aliases & Descriptions for Fetal Hemoglobin Quantitative Trait Locus 1:

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


Classifications:



Characteristics (Orphanet epidemiological data):

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


External Ids:

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

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 thalassemia, hispanic gamma-delta-beta, and has symptoms including microcytic anemia, abnormality of the heme biosynthetic pathway and autosomal dominant inheritance. An important gene associated with Fetal Hemoglobin Quantitative Trait Locus 1 is HBB (Hemoglobin, Beta), and among its related pathways are Hemostasis 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 all 39)
idRelated DiseaseScoreTop Affiliating Genes
1sickle cell anemia30.3HBB, HBG1, HBG2
2thalassemia, hispanic gamma-delta-beta29.8HBB, HBD, HBG1, HBG2
3thalassemia11.1
4hereditary persistence of fetal hemoglobin - beta-thalassemia10.6
5hereditary persistence of fetal hemoglobin, klf1-related10.5
6hereditary persistence of fetal hemoglobin - sickle cell disease10.5
7sickle delta beta thalassemia10.5
8fetal hemoglobin quantitative trait locus 210.3
9conjunctivitis10.3
10delta-thalassemia10.3
11neonatal anemia10.2
12splenic infarction10.1
13hypotrichosis-deafness syndrome10.1HBB, HBD
14skin pilomatrix carcinoma10.1HBB, HBD
15proliferative fasciitis10.1HBB, HBD
16malignant teratoma10.1HBB, HBD
17brucella melitensis brucellosis10.1HBB, HBD
18mediastinum neurofibroma10.0HBB, HBD
19mediastinum rhabdomyosarcoma10.0HBB, HBD
20large cell carcinoma with rhabdoid phenotype10.0HBB, HBD
21hepatocellular adenoma10.0HBB, HBD
22urinary tract non-invasive transitional cell neoplasm10.0HBB, HBD
23goiter10.0HBB, HBD
24avoidant personality disorder10.0HBB, HBD
25diffuse cutaneous mastocytosis10.0HBB, HBD
26acute kidney failure10.0HBB, HBG1
27protoporphyria, erythropoietic, x-linked9.9HBB, HBD
28paratesticular lipoma9.9HBB, HBD
29queensland tick typhus9.9HBB, HBG2
30conjunctival pigmentation9.8HBB, HBG2
31hemoglobinuria9.8HBB, HBD, HBG1
32tendinitis9.8HBB, HBG2
33congenital hypoplastic anemia9.8HBB, HBG1
34proximal renal tubular acidosis9.7HBB, HBG1, HBG2
35recurrent infections - inflammatory syndrome due to zinc metabolism disorder9.7HBB, HBG1, HBG2
36fetal hemoglobin quantitative trait locus 19.5HBB, HBD, HBG1, HBG2
37snyder-robinson syndrome9.5HBB, HBD, HBG1, HBG2
38hemoglobin h disease, nondeletional9.5HBB, HBD, HBG1, HBG2
39thromboangiitis obliterans9.5HBB, 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 microcytic anemia hallmark (90%) HP:0001935
2 abnormality of the heme biosynthetic pathway hallmark (90%) HP:0010472
3 autosomal dominant inheritance HP:0000006
4 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 24
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 pathways (with members indented)ScoreTop 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
1blood microparticleGO:00725629.1HBB, HBD, HBG2
2hemoglobin complexGO:00058338.6HBB, HBD, HBG1, HBG2
3cytosolGO:00058298.0HBB, HBD, HBG1, HBG2

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

idNameGO IDScoreTop Affiliating Genes
1oxygen transportGO:00156718.5HBB, HBD, HBG1, HBG2
2blood coagulationGO:00075968.0HBB, HBD, HBG1, HBG2

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

idNameGO IDScoreTop Affiliating Genes
1oxygen transporter activityGO:00053448.5HBB, HBD, HBG1, HBG2
2iron ion bindingGO:00055068.1HBB, HBD, HBG1, HBG2
3oxygen bindingGO:00198258.1HBB, HBD, HBG1, HBG2
4heme bindingGO:00200378.0HBB, HBD, 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