protein C deficiency

Search with Google Search with Bing
Information
Disease name
protein C deficiency
Disease ID
DOID:3756
Description
"A thrombophilia that is characterized by recurrent venous thrombosis and that has_material_basis_in heterozygous mutation in the PROC gene on chromosome 2q14." [url:https\://pubmed.ncbi.nlm.nih.gov/10942114/]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
Genes Mutation Description Source Links
NCT ID Status Phase Summary Start date Completion date
NCT00157118 Completed Phase 2/Phase 3 Efficacy and Safety Study of Protein C Concentrate in Subjects With Severe Congenital Protein C Deficiency August 22, 2003 March 17, 2005
NCT00161720 Completed Retrospective Study to Capture Dosing and Treatment Outcome Data in Participants With Severe Congenital Protein C Deficiency Who Were Treated With Protein C Concentrate Under an Emergency Use IND June 1, 2005 December 1, 2005
NCT01127529 Completed Ceprotin Treatment Registry June 23, 2010 June 22, 2015
NCT04180657 Unknown status Ghrelin Levels in Patients With Protein C Deficiency January 2020 July 2020
Disase is a (Disease Ontology)
DOID:2452
Cross Reference ID (Disease Ontology)
GARD:4521
Cross Reference ID (Disease Ontology)
ICD10CM:D68.59
Cross Reference ID (Disease Ontology)
MESH:D020151
Cross Reference ID (Disease Ontology)
NCI:C99025
Cross Reference ID (Disease Ontology)
ORDO:745
Cross Reference ID (Disease Ontology)
SNOMEDCT_US_2023_03_01:76407009
Cross Reference ID (Disease Ontology)
UMLS_CUI:C0398625
MeSH unique ID (MeSH (Medical Subject Headings))
D020151