MCID: HRD180
MIFTS: 17

Hereditary Persistence of Fetal Hemoglobin-Sickle Cell Disease Syndrome

Categories: Blood diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Hereditary Persistence of Fetal Hemoglobin-Sickle Cell Disease...

MalaCards integrated aliases for Hereditary Persistence of Fetal Hemoglobin-Sickle Cell Disease Syndrome:

Name: Hereditary Persistence of Fetal Hemoglobin-Sickle Cell Disease Syndrome 60
Hpfh-Sickle Cell Disease Syndrome 60

Characteristics:

Orphanet epidemiological data:

60
hereditary persistence of fetal hemoglobin-sickle cell disease syndrome
Inheritance: Autosomal recessive; Age of onset: All ages;

Classifications:



External Ids:

ICD10 via Orphanet 35 D57.2
Orphanet 60 ORPHA251380

Summaries for Hereditary Persistence of Fetal Hemoglobin-Sickle Cell Disease...

MalaCards based summary : Hereditary Persistence of Fetal Hemoglobin-Sickle Cell Disease Syndrome, also known as hpfh-sickle cell disease syndrome, is related to neonatal anemia and spherocytosis, type 3. An important gene associated with Hereditary Persistence of Fetal Hemoglobin-Sickle Cell Disease Syndrome is KLF1 (Kruppel Like Factor 1), and among its related pathways/superpathways is Factors involved in megakaryocyte development and platelet production.

Related Diseases for Hereditary Persistence of Fetal Hemoglobin-Sickle Cell Disease...

Graphical network of the top 20 diseases related to Hereditary Persistence of Fetal Hemoglobin-Sickle Cell Disease Syndrome:



Diseases related to Hereditary Persistence of Fetal Hemoglobin-Sickle Cell Disease Syndrome

Symptoms & Phenotypes for Hereditary Persistence of Fetal Hemoglobin-Sickle Cell Disease...

Drugs & Therapeutics for Hereditary Persistence of Fetal Hemoglobin-Sickle Cell Disease...

Search Clinical Trials , NIH Clinical Center for Hereditary Persistence of Fetal Hemoglobin-Sickle Cell Disease Syndrome

Genetic Tests for Hereditary Persistence of Fetal Hemoglobin-Sickle Cell Disease...

Anatomical Context for Hereditary Persistence of Fetal Hemoglobin-Sickle Cell Disease...

Publications for Hereditary Persistence of Fetal Hemoglobin-Sickle Cell Disease...

Variations for Hereditary Persistence of Fetal Hemoglobin-Sickle Cell Disease...

Expression for Hereditary Persistence of Fetal Hemoglobin-Sickle Cell Disease...

Search GEO for disease gene expression data for Hereditary Persistence of Fetal Hemoglobin-Sickle Cell Disease Syndrome.

Pathways for Hereditary Persistence of Fetal Hemoglobin-Sickle Cell Disease...

Pathways related to Hereditary Persistence of Fetal Hemoglobin-Sickle Cell Disease Syndrome according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11 HBB HBG1 HBG2

GO Terms for Hereditary Persistence of Fetal Hemoglobin-Sickle Cell Disease...

Cellular components related to Hereditary Persistence of Fetal Hemoglobin-Sickle Cell Disease 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-Sickle Cell Disease 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-Sickle Cell Disease Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 metal ion binding GO:0046872 9.8 BCL11A 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-Sickle Cell Disease...

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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