MCID: HRD180
MIFTS: 17

Hereditary Persistence of Fetal Hemoglobin-Sickle Cell Disease Syndrome

Categories: Blood diseases, Rare diseases, Fetal 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 59
Hpfh-Sickle Cell Disease Syndrome 59

Characteristics:

Orphanet epidemiological data:

59
hereditary persistence of fetal hemoglobin-sickle cell disease syndrome
Inheritance: Autosomal recessive; Age of onset: All ages;

Classifications:



External Ids:

Orphanet 59 ORPHA251380
ICD10 via Orphanet 34 D57.2

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 spherocytosis, type 2 and glucosephosphate dehydrogenase deficiency. 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 8.96 HBB HBG2
2 hemoglobin complex GO:0005833 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 9.13 HBB HBG1 HBG2
2 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 9.72 BCL11A 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-Sickle Cell Disease...

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
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
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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