MCID: FTL033
MIFTS: 32

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

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Sources:
12diseasecard, 24GeneTests, 27GTR, 30ICD10, 31ICD10 via Orphanet, 52OMIM, 54Orphanet, 64The Human Phenotype Ontology, 68UMLS, 69UMLS via Orphanet
See all MalaCards sources

Aliases & Descriptions for Fetal Hemoglobin Quantitative Trait Locus 1:

Name: Fetal Hemoglobin Quantitative Trait Locus 1 52 24 27
Delta-Beta Thalassemia 52 12 68
Hereditary Persistence of Fetal Hemoglobin 52 24
Hereditary Persistence of Fetal Hemoglobin Thalassemia 68
 
Hereditary Persistence of Hemoglobin F 24
Hemoglobin F, Heredtary Persistence of 24
Delta-Beta-Thalassemia 54
Hpfh 24

Characteristics:

Orphanet epidemiological data:

54
delta-beta-thalassemia:
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal

HPO:

64
fetal hemoglobin quantitative trait locus 1:
Inheritance: autosomal dominant inheritance

Classifications:



External Ids:

OMIM52 141749
Orphanet54 ORPHA231237
UMLS via Orphanet69 C0271985
ICD10 via Orphanet31 D56.2
ICD1030 D56.2, D56.4

Summaries for Fetal Hemoglobin Quantitative Trait Locus 1

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OMIM:52 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 is 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 32)
idRelated DiseaseScoreTop Affiliating Genes
1sickle cell anemia28.3HBB, HBD, HBG1, HBG2
2sickle delta beta thalassemia12.2
3hereditary persistence of fetal hemoglobin, klf1-related12.2
4hereditary persistence of fetal hemoglobin-sickle cell disease syndrome12.2
5hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome12.2
6thalassemia, hispanic gamma-delta-beta11.4
7intellectual developmental disorder with persistence of fetal hemoglobin11.2
8fetal hemoglobin quantitative trait locus 211.1
9thalassemia10.6
10mosaic genome-wide paternal uniparental disomy10.0HBB, HBD
11internuclear ophthalmoplegia10.0HBB, HBD
12intracranial cavernous angioma10.0HBB, HBD
13vulvar proximal-type epithelioid sarcoma10.0HBB, HBD
14uterine inflammatory disease9.9HBB, HBD
15congenital nonspherocytic hemolytic anemia9.9HBB, HBD
16conjunctivitis9.8
17delta-thalassemia9.8
18thalassemia intermedia9.8
19voyeurism9.8HBB, HBD
20spastic paraplegia 3a9.7HBB, HBG1
21thbd-related atypical hemolytic-uremic syndrome9.6HBB, HBG2
22plasmodium malariae malaria9.5HBB, HBD
23glucosephosphate dehydrogenase deficiency9.5HBB, HBD, HBG1
24childhood malignant mesenchymoma9.5HBB, HBD, HBG1
25hemoglobin h disease, nondeletional9.5HBB, HBD, HBG1
26premature menopause9.5HBB, HBG2
27pneumonia caused by pseudomonas aeruginosa infection9.3HBB, HBG1, HBG2
28dysmorphism-short stature-deafness-disorder of sex development syndrome9.3HBB, HBG1, HBG2
29thalassemia minor9.3HBB, HBG1, HBG2
30thalassemia-beta, dominant inclusion-body9.2HBB, HBG1, HBG2
31cyanosis, transient neonatal8.9HBB, HBD, HBG1, HBG2
32tongue squamous cell carcinoma8.8HBB, 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 & Phenotypes for Fetal Hemoglobin Quantitative Trait Locus 1

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Symptoms by clinical synopsis from OMIM:

141749

Clinical features from OMIM:

141749

Human phenotypes related to Fetal Hemoglobin Quantitative Trait Locus 1:

 64 54
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 microcytic anemia64 54 hallmark (90%) Very frequent (99-80%) HP:0001935
2 abnormality of the heme biosynthetic pathway64 hallmark (90%) HP:0010472
3 persistence of hemoglobin f64 HP:0011904
4 anemia54 Very frequent (99-80%)
5 abnormal hemoglobin54 Very frequent (99-80%)

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 127 24
2 Hereditary Persistence of Fetal Hemoglobin24 HBB, HBG1, HBG2

Anatomical Context for Fetal Hemoglobin Quantitative Trait Locus 1

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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> GSNVPathogenicrs35617911GRCh37Chr 11, 5276213: 5276213
2HBG2NM_000184.2(HBG2): c.-228T> CSNVPathogenicrs63750654GRCh37Chr 11, 5276186: 5276186
3HBG2NM_000184.2(HBG2): c.-167C> TSNVPathogenicrs34809449GRCh37Chr 11, 5276125: 5276125
4HBG2NM_000184.2(HBG2): c.-167C> ASNVPathogenicrs34809449GRCh37Chr 11, 5276125: 5276125
5HBG1NM_000559.2(HBG1): c.-170G> ASNVPathogenicrs35378915GRCh37Chr 11, 5271204: 5271204
6HBG1NM_000559.2(HBG1): c.-251T> CSNVPathogenicrs35710727GRCh37Chr 11, 5271285: 5271285
7HBG1NM_000559.2(HBG1): c.-53-196C> TSNVPathogenicrs35983258GRCh37Chr 11, 5271283: 5271283
8HBG1NM_000559.2(HBG1): c.-53-195C> GSNVPathogenicrs35321913GRCh37Chr 11, 5271282: 5271282
9HBG1NM_000559.2(HBG1): c.-167C> TSNVPathogenicrs281860601GRCh37Chr 11, 5271201: 5271201
10HBG1HBG1, C-T, -158SNVPathogenicChr na, -1: -1
11HBBHBB, 106-KB DELdeletionPathogenicChr na, -1: -1
12HBG2HBG2, T-G, -567SNVPathogenicChr na, -1: -1

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
18.0HBB, 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:00725629.4HBB, HBD, HBG2
2cytosolGO:00058298.3HBB, HBD, HBG1, HBG2
3hemoglobin complexGO:00058338.0HBB, HBD, HBG1, HBG2

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

idNameGO IDScoreTop Affiliating Genes
1blood coagulationGO:00075968.3HBB, HBD, HBG1, HBG2
2oxygen transportGO:00156718.0HBB, HBD, HBG1, HBG2

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

idNameGO IDScoreTop Affiliating Genes
1heme bindingGO:00200378.6HBB, HBD, HBG1, HBG2
2iron ion bindingGO:00055068.5HBB, HBD, HBG1, HBG2
3oxygen bindingGO:00198258.3HBB, HBD, HBG1, HBG2
4oxygen transporter activityGO:00053448.0HBB, HBD, HBG1, HBG2

Sources for Fetal Hemoglobin Quantitative Trait Locus 1

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet