MCID: FTL033
MIFTS: 35

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:45 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 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:
45OMIM, 10diseasecard, 20GeneTests, 47Orphanet, 22GTR, 60UMLS, 61UMLS via Orphanet, 26ICD10 via Orphanet, 25ICD10
See all sources

Fetal Hemoglobin Quantitative Trait Locus 1, Aliases & Descriptions:

Name: Fetal Hemoglobin Quantitative Trait Locus 1 45 22 60
Delta-Beta Thalassemia 45 10 60
Hereditary Persistence of Fetal Hemoglobin 45 20
 
Delta-Beta-Thalassemia 47
Hemoglobin F Disease 60


Classifications:

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


Characteristics (Orphanet epidemiological data):

47
delta-beta-thalassemia:
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal


External Ids:

OMIM45 141749
Orphanet47 231237
UMLS via Orphanet61 C0271985
ICD10 via Orphanet26 D56.2
ICD1025 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:

 47
  • 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 Hemoglobin20 HBD
2 Fetal Hemoglobin Quantitative Trait Locus 122

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:

6 (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:
43Novoseek, 24HMDB, 12DrugBank, 2BitterDB, 49PharmGKB, 28IUPHAR
See all sources

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

(show all 21)
idCompoundScoreTop Affiliating Genes
1dimethyl sulfate439.4HBG1, HBB
2benzidine439.4HBB, HBG1
3porphobilinogen43 24 1211.4HBB, HBG1
4propionate439.4HBG1, HBB
5de-oxy439.4HBB, HBG2
65-aminolevulinic acid43 2410.4HBB, HBG1
7s-nitrosocysteine439.4HBB, HBG2
8neomycin439.3HBG1, HBB
923-diphosphoglycerate439.3HBB, HBG2
10azathioprine43 2 49 1212.2HBB, HBG1
11glyceraldehyde 3-phosphate439.2HBB, HBG1
12glucose 6-phosphate43 2410.2HBG2, HBB
13polyacrylamide439.1HBG1, HBB
14fatty acid439.1HBB, HBG1
15histidine438.9HBB, HBG2
16hydroxyurea43 49 1210.8HBG1, HBG2, HBB
17butyrate438.8HBB, HBG1
18iron43 249.8HBB, HBG2, HBG1
19nitric oxide43 24 1210.7HBB, HBG2, HBG1
20heme28 24 1210.3HBB, HBG2, HBD, HBG1
21oxygen43 249.3HBG1, HBD, HBG2, HBB

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:00725628.2HBD, HBG2, HBB
2cytosolGO:00058298.0HBB, HBG2, HBD, HBG1
3hemoglobin complexGO:00058337.9HBB, HBG2, HBD, HBG1

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

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

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

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

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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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet