MCID: FTL033
MIFTS: 41

Fetal Hemoglobin Quantitative Trait Locus 1 malady

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

Summaries for Fetal Hemoglobin Quantitative Trait Locus 1

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OMIM:47 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 hereditary persistence of fetal hemoglobin, is related to thalassemia and sickle cell anemia, 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 HBG1 (hemoglobin, gamma A), and among its related pathways are p70S6K Signaling and ErbB4 Pathway. The compounds dimethyl sulfate and benzidine have been mentioned in the context of this disorder.

Aliases & Classifications for Fetal Hemoglobin Quantitative Trait Locus 1

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Sources:
47OMIM, 24GTR, 62UMLS, 22GeneTests, 11diseasecard, 49Orphanet, 63UMLS via Orphanet, 28ICD10 via Orphanet, 27ICD10
See all sources

Fetal Hemoglobin Quantitative Trait Locus 1, Aliases & Descriptions:

Name: Fetal Hemoglobin Quantitative Trait Locus 1 47 24 62
Hereditary Persistence of Fetal Hemoglobin 47 22
 
Delta-Beta Thalassemia 47 11
Delta-Beta-Thalassemia 49


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Immune diseases, Blood diseases


Characteristics (Orphanet epidemiological data):

49
delta-beta-thalassemia:
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal


External Ids:

OMIM47 141749
Orphanet49 231237
UMLS via Orphanet63 C0271985
ICD10 via Orphanet28 D56.2
ICD1027 D56.2, D56.4

Related Diseases for Fetal Hemoglobin Quantitative Trait Locus 1

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Graphical network of 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:

 49
  • 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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Drug clinical trials:

Search ClinicalTrials for Fetal Hemoglobin Quantitative Trait Locus 1

Search 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 Hereditary Persistence of Fetal Hemoglobin22 HBD
2 Fetal Hemoglobin Quantitative Trait Locus 124

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:

7 (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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Compounds for genes affiliated with Fetal Hemoglobin Quantitative Trait Locus 1

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Sources:
45Novoseek, 26HMDB, 13DrugBank, 3BitterDB, 51PharmGKB, 30IUPHAR
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Compounds related to Fetal Hemoglobin Quantitative Trait Locus 1 according to GeneCards/GeneDecks:

(show all 21)
idCompoundScoreTop Affiliating Genes
1dimethyl sulfate459.4HBB, HBG1
2benzidine459.4HBG1, HBB
3porphobilinogen45 26 1311.4HBG1, HBB
4propionate459.4HBB, HBG1
5de-oxy459.4HBB, HBG2
65-aminolevulinic acid45 2610.4HBG1, HBB
7s-nitrosocysteine459.4HBB, HBG2
8neomycin459.3HBG1, HBB
923-diphosphoglycerate459.3HBB, HBG2
10azathioprine45 3 51 1312.2HBB, HBG1
11glyceraldehyde 3-phosphate459.2HBB, HBG1
12glucose 6-phosphate45 2610.2HBB, HBG2
13polyacrylamide459.1HBB, HBG1
14fatty acid459.1HBG1, HBB
15histidine458.9HBG2, HBB
16hydroxyurea45 51 1310.8HBG1, HBG2, HBB
17butyrate458.8HBG1, HBB
18iron45 269.8HBG1, HBG2, HBB
19nitric oxide45 26 1310.7HBB, HBG2, HBG1
20heme30 26 1310.3HBD, HBG1, HBB, HBG2
21oxygen45 269.3HBB, HBG2, HBD, HBG1

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/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1blood microparticleGO:00725628.2HBG2, HBB, HBD
2cytosolGO:00058298.0HBG1, HBD, HBG2, HBB
3hemoglobin complexGO:00058337.9HBG2, HBG1, HBB, HBD

Biological processes related to Fetal Hemoglobin Quantitative Trait Locus 1 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1blood coagulationGO:00075968.0HBB, HBG2, HBD, HBG1

Molecular functions related to Fetal Hemoglobin Quantitative Trait Locus 1 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1oxygen transporter activityGO:00053448.0HBB, HBG2, HBD, HBG1
2iron ion bindingGO:00055068.0HBG1, HBD, HBG2, HBB
3oxygen bindingGO:00198257.9HBG1, HBD, HBG2, HBB
4heme bindingGO:00200377.7HBB, HBG2, HBD, HBG1

Products for genes affiliated with Fetal Hemoglobin Quantitative Trait Locus 1

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Fetal Hemoglobin Quantitative Trait Locus 1

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4CDC
15ExPASy
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet