MCID: HRD183
MIFTS: 24

Hereditary Persistence of Fetal Hemoglobin-Beta-Thalassemia Syndrome

Categories: Blood diseases, Rare diseases, Fetal diseases

Aliases & Classifications for Hereditary Persistence of Fetal Hemoglobin-Beta-Thalassemia...

MalaCards integrated aliases for Hereditary Persistence of Fetal Hemoglobin-Beta-Thalassemia Syndrome:

Name: Hereditary Persistence of Fetal Hemoglobin-Beta-Thalassemia Syndrome 59
Hpfh-Beta-Thalassemia Syndrome 59

Characteristics:

Orphanet epidemiological data:

59
hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome
Inheritance: Autosomal dominant; Age of onset: Childhood;

Classifications:



External Ids:

Orphanet 59 ORPHA46532
ICD10 via Orphanet 34 D56.4

Summaries for Hereditary Persistence of Fetal Hemoglobin-Beta-Thalassemia...

MalaCards based summary : Hereditary Persistence of Fetal Hemoglobin-Beta-Thalassemia Syndrome, also known as hpfh-beta-thalassemia syndrome, is related to spherocytosis, type 2 and glucosephosphate dehydrogenase deficiency. An important gene associated with Hereditary Persistence of Fetal Hemoglobin-Beta-Thalassemia Syndrome is KLF1 (Kruppel Like Factor 1), and among its related pathways/superpathways are Response to elevated platelet cytosolic Ca2+ and Glucose / Energy Metabolism. Affiliated tissues include bone, and related phenotypes are pallor and splenomegaly

Related Diseases for Hereditary Persistence of Fetal Hemoglobin-Beta-Thalassemia...

Graphical network of the top 20 diseases related to Hereditary Persistence of Fetal Hemoglobin-Beta-Thalassemia Syndrome:



Diseases related to Hereditary Persistence of Fetal Hemoglobin-Beta-Thalassemia Syndrome

Symptoms & Phenotypes for Hereditary Persistence of Fetal Hemoglobin-Beta-Thalassemia...

Human phenotypes related to Hereditary Persistence of Fetal Hemoglobin-Beta-Thalassemia Syndrome:

59 32 (show all 6)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 pallor 59 32 hallmark (90%) Very frequent (99-80%) HP:0000980
2 splenomegaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0001744
3 anemia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001903
4 hepatomegaly 59 32 frequent (33%) Frequent (79-30%) HP:0002240
5 abnormal bone structure 59 32 frequent (33%) Frequent (79-30%) HP:0003330
6 persistence of hemoglobin f 59 32 hallmark (90%) Very frequent (99-80%) HP:0011904

Drugs & Therapeutics for Hereditary Persistence of Fetal Hemoglobin-Beta-Thalassemia...

Search Clinical Trials , NIH Clinical Center for Hereditary Persistence of Fetal Hemoglobin-Beta-Thalassemia Syndrome

Genetic Tests for Hereditary Persistence of Fetal Hemoglobin-Beta-Thalassemia...

Anatomical Context for Hereditary Persistence of Fetal Hemoglobin-Beta-Thalassemia...

MalaCards organs/tissues related to Hereditary Persistence of Fetal Hemoglobin-Beta-Thalassemia Syndrome:

41
Bone

Publications for Hereditary Persistence of Fetal Hemoglobin-Beta-Thalassemia...

Variations for Hereditary Persistence of Fetal Hemoglobin-Beta-Thalassemia...

Expression for Hereditary Persistence of Fetal Hemoglobin-Beta-Thalassemia...

Search GEO for disease gene expression data for Hereditary Persistence of Fetal Hemoglobin-Beta-Thalassemia Syndrome.

Pathways for Hereditary Persistence of Fetal Hemoglobin-Beta-Thalassemia...

Pathways related to Hereditary Persistence of Fetal Hemoglobin-Beta-Thalassemia Syndrome according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.21 HBB HBG1 HBG2
2 11.65 HBB HBG1
3 11 HBB HBG1 HBG2

GO Terms for Hereditary Persistence of Fetal Hemoglobin-Beta-Thalassemia...

Cellular components related to Hereditary Persistence of Fetal Hemoglobin-Beta-Thalassemia Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 blood microparticle GO:0072562 8.96 HBB HBG2
2 hemoglobin complex GO:0005833 8.8 HBB HBG1 HBG2

Biological processes related to Hereditary Persistence of Fetal Hemoglobin-Beta-Thalassemia Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 blood coagulation GO:0007596 9.13 HBB HBG1 HBG2
2 oxygen transport GO:0015671 8.8 HBB HBG1 HBG2

Molecular functions related to Hereditary Persistence of Fetal Hemoglobin-Beta-Thalassemia Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 metal ion binding GO:0046872 9.62 HBB HBG1 HBG2 KLF1
2 iron ion binding GO:0005506 9.43 HBB HBG1 HBG2
3 heme binding GO:0020037 9.33 HBB HBG1 HBG2
4 oxygen binding GO:0019825 9.13 HBB HBG1 HBG2
5 oxygen carrier activity GO:0005344 8.8 HBB HBG1 HBG2

Sources for Hereditary Persistence of Fetal Hemoglobin-Beta-Thalassemia...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
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42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
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55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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