MCID: FTL033
MIFTS: 33

Fetal Hemoglobin Quantitative Trait Locus 1 malady

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

Aliases & Classifications for Fetal Hemoglobin Quantitative Trait Locus 1

About this section
Sources:
50OMIM, 23GeneTests, 25GTR, 12diseasecard, 66UMLS, 52Orphanet, 29ICD10 via Orphanet, 67UMLS via Orphanet, 28ICD10, 62The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Fetal Hemoglobin Quantitative Trait Locus 1:

Name: Fetal Hemoglobin Quantitative Trait Locus 1 50 23 25
Delta-Beta Thalassemia 50 12 66
Hereditary Persistence of Fetal Hemoglobin 50 23
Hereditary Persistence of Fetal Hemoglobin Thalassemia 66
 
Hereditary Persistence of Hemoglobin F 23
Hemoglobin F, Heredtary Persistence of 23
Delta-Beta-Thalassemia 52
Hpfh 23

Characteristics:

Orphanet epidemiological data:

52
delta-beta-thalassemia:
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal

HPO:

62
fetal hemoglobin quantitative trait locus 1:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM50 141749
Orphanet52 ORPHA231237
ICD10 via Orphanet29 D56.2
UMLS via Orphanet67 C0271985
ICD1028 D56.2, D56.4

Summaries for Fetal Hemoglobin Quantitative Trait Locus 1

About this section
OMIM:50 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 microcytic anemia, abnormality of the heme biosynthetic pathway 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

About this section

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 32)
idRelated DiseaseScoreTop Affiliating Genes
1sickle cell anemia28.3HBB, 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-beta11.6
7thalassemia10.7
8fetal hemoglobin quantitative trait locus 210.2
9mosaic genome-wide paternal uniparental disomy10.1HBB, HBD
10internuclear ophthalmoplegia10.0HBB, HBD
11intracranial cavernous angioma10.0HBB, HBD
12vulvar proximal-type epithelioid sarcoma10.0HBB, HBD
13uterine inflammatory disease10.0HBB, HBD
14congenital nonspherocytic hemolytic anemia10.0HBB, HBD
15conjunctivitis9.9
16delta-thalassemia9.9
17thalassemia intermedia9.9
18voyeurism9.9HBB, HBD
19lymphoplasmacytic lymphoma9.8HBB, HBD
20plasmodium malariae malaria9.7HBB, HBD
21thbd-related atypical hemolytic-uremic syndrome9.6HBB, HBG2
22premature menopause9.5HBB, HBG2
23glucosephosphate dehydrogenase deficiency9.5HBB, HBD, HBG1
24childhood malignant mesenchymoma9.5HBB, HBD, HBG1
25hemoglobin h disease, nondeletional9.5HBB, HBD, HBG1
26spastic paraplegia 3a9.4HBB, HBG1
27pneumonia caused by pseudomonas aeruginosa infection9.3HBB, HBG1, HBG2
28dysmorphism-short stature-deafness-disorder of sex development syndrome9.2HBB, HBG1, HBG2
29thalassemia minor9.2HBB, HBG1, HBG2
30thalassemia-beta, dominant inclusion-body9.2HBB, HBG1, HBG2
31cyanosis, transient neonatal8.7HBB, HBD, HBG1, HBG2
32tongue squamous cell carcinoma8.7HBB, 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

About this section

Symptoms by clinical synopsis from OMIM:

141749

Clinical features from OMIM:

141749

Symptoms:

 52
  • anemia
  • microcytic anemia
  • abnormal hemoglobin

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 persistence of hemoglobin f HP:0011904

Drugs & Therapeutics for Fetal Hemoglobin Quantitative Trait Locus 1

About this section

Interventional clinical trials:

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

Genetic Tests for Fetal Hemoglobin Quantitative Trait Locus 1

About this section

Genetic tests related to Fetal Hemoglobin Quantitative Trait Locus 1:

id Genetic test Affiliating Genes
1 Fetal Hemoglobin Quantitative Trait Locus 125 23
2 Hereditary Persistence of Fetal Hemoglobin23 HBD

Anatomical Context for Fetal Hemoglobin Quantitative Trait Locus 1

About this section

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

About this section

Publications for Fetal Hemoglobin Quantitative Trait Locus 1

About this section

Variations for Fetal Hemoglobin Quantitative Trait Locus 1

About this section

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

About this section
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

About this section

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

About this section

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

idNameGO IDScoreTop Affiliating Genes
1blood microparticleGO:00725628.9HBB, HBD, HBG2
2hemoglobin complexGO:00058338.5HBB, 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:00156718.2HBB, 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
2oxygen bindingGO:00198258.2HBB, HBD, HBG1, HBG2
3iron ion bindingGO:00055068.0HBB, HBD, HBG1, HBG2
4heme bindingGO:00200377.7HBB, HBD, HBG1, HBG2

Sources for Fetal Hemoglobin Quantitative Trait Locus 1

About this section
2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet