MCID: HRD183
MIFTS: 24

Hereditary Persistence of Fetal Hemoglobin-Beta-Thalassemia Syndrome

Categories: Blood diseases, Fetal diseases, Rare 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 60
Hpfh-Beta-Thalassemia Syndrome 60

Characteristics:

Orphanet epidemiological data:

60
hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome
Inheritance: Autosomal dominant; Age of onset: Childhood;

Classifications:



External Ids:

ICD10 via Orphanet 35 D56.4
Orphanet 60 ORPHA46532

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 3 and hemolytic anemia. 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 splenomegaly and anemia

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:

60 33 (show all 6)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 splenomegaly 60 33 hallmark (90%) Very frequent (99-80%) HP:0001744
2 anemia 60 33 hallmark (90%) Very frequent (99-80%) HP:0001903
3 pallor 60 33 hallmark (90%) Very frequent (99-80%) HP:0000980
4 persistence of hemoglobin f 60 33 hallmark (90%) Very frequent (99-80%) HP:0011904
5 hepatomegaly 60 33 frequent (33%) Frequent (79-30%) HP:0002240
6 abnormal bone structure 60 33 frequent (33%) Frequent (79-30%) HP:0003330

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:

42
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 9.16 HBB HBG2
2 hemoglobin complex GO:0005833 9.13 HBB HBG1 HBG2
3 haptoglobin-hemoglobin complex GO:0031838 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 9.5 HBB HBG1 HBG2
2 cellular oxidant detoxification GO:0098869 9.43 HBB HBG1 HBG2
3 protein heterooligomerization GO:0051291 9.33 HBB HBG1 HBG2
4 hydrogen peroxide catabolic process GO:0042744 9.13 HBB HBG1 HBG2
5 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 9.71 HBB HBG1 HBG2 KLF1
2 heme binding GO:0020037 9.54 HBB HBG1 HBG2
3 oxygen binding GO:0019825 9.5 HBB HBG1 HBG2
4 peroxidase activity GO:0004601 9.43 HBB HBG1 HBG2
5 oxygen carrier activity GO:0005344 9.33 HBB HBG1 HBG2
6 organic acid binding GO:0043177 9.13 HBB HBG1 HBG2
7 haptoglobin binding GO:0031720 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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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