MCID: HRD183
MIFTS: 22

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 58
Hpfh-Beta-Thalassemia Syndrome 58

Characteristics:

Orphanet epidemiological data:

58
hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome
Inheritance: Autosomal dominant; Age of onset: Childhood;

Classifications:

Orphanet: 58  
Rare haematological diseases


External Ids:

ICD10 via Orphanet 33 D56.4
Orphanet 58 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 glucosephosphate dehydrogenase deficiency and spherocytosis, type 4. An important gene associated with Hereditary Persistence of Fetal Hemoglobin-Beta-Thalassemia Syndrome is HBB (Hemoglobin Subunit Beta), 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:

58 31 (show all 6)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 splenomegaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0001744
2 anemia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001903
3 pallor 58 31 hallmark (90%) Very frequent (99-80%) HP:0000980
4 persistence of hemoglobin f 58 31 hallmark (90%) Very frequent (99-80%) HP:0011904
5 hepatomegaly 58 31 frequent (33%) Frequent (79-30%) HP:0002240
6 abnormal bone structure 58 31 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:

40
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 HBG2 HBG1 HBB
2 11.65 HBG1 HBB
3 11 HBG2 HBG1 HBB

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 HBG2 HBB
2 hemoglobin complex GO:0005833 9.13 HBG2 HBG1 HBB
3 haptoglobin-hemoglobin complex GO:0031838 8.8 HBG2 HBG1 HBB

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 9.43 HBG2 HBG1 HBB
2 cellular oxidant detoxification GO:0098869 9.33 HBG2 HBG1 HBB
3 hydrogen peroxide catabolic process GO:0042744 9.13 HBG2 HBG1 HBB
4 oxygen transport GO:0015671 8.8 HBG2 HBG1 HBB

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 9.73 KLF1 HBG2 HBG1 HBB
2 heme binding GO:0020037 9.58 HBG2 HBG1 HBB
3 peroxidase activity GO:0004601 9.54 HBG2 HBG1 HBB
4 oxygen binding GO:0019825 9.5 HBG2 HBG1 HBB
5 oxygen carrier activity GO:0005344 9.43 HBG2 HBG1 HBB
6 organic acid binding GO:0043177 9.33 HBG2 HBG1 HBB
7 haptoglobin binding GO:0031720 9.13 HBG2 HBG1 HBB
8 hemoglobin alpha binding GO:0031721 8.8 HBG2 HBG1 HBB

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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