Thrombophilia Due To Protein C Deficiency, Autosomal Recessive; Thph4

Description

Autosomal recessive protein C deficiency resulting from homozygous or compound heterozygous PROC mutations is a thrombotic condition that can manifest as a severe neonatal disorder or as a milder disorder with late-onset thrombophilia (Millar et al., 2000).

Genes related to Thrombophilia Due To Protein C Deficiency, Autosomal Recessive; Thph4

PROC

Clinical Features

Top most frequent phenotypes and symptoms related to Thrombophilia Due To Protein C Deficiency, Autosomal Recessive; Thph4

Seizures
Global developmental delay
Nevus
Blindness
Apnea
Tetraplegia
Focal seizures
Spastic tetraplegia
Purpura
Venous thrombosis

And another 13 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Not enough data available about incidence and published cases.

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Thrombophilia Due To Protein C Deficiency, Autosomal Recessive; Thph4 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
PROC Sequencing. By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States. PROC Specificity 100 % Genes 100 %
PROC Deletion/duplication analysis. By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States. PROC Specificity 100 % Genes 100 %
PROC. Complete sequencing. By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain. PROC Specificity 100 % Genes 100 %
Sequencing of PROC gene (Protein C deficiency). By Molecular Diagnostics Laboratory Hospital Sainte-Justine in Canada. PROC Specificity 100 % Genes 100 %
Protein C deficiency (sequence analysis of PROC gene). By CGC Genetics in Portugal. PROC Specificity 100 % Genes 100 %
Thrombophilia due to activated protein C resistance. By CGC Genetics in Portugal. PROC Specificity 100 % Genes 100 %
Protein C deficiency (deletion/duplication analysis on PROC gene). By CGC Genetics in Portugal. PROC Specificity 100 % Genes 100 %
Protein C deficiency (deletion/duplication analysis on PROC gene). By CGC Genetics in Portugal. PROC Specificity 100 % Genes 100 %
Thrombophilia, hereditary, due to protein c deficiency, autosomal dominant. By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders in Germany. PROC Specificity 100 % Genes 100 %
Protein C Deficiency via PROC Gene Sequencing with CNV Detection. By PreventionGenetics PreventionGenetics in United States. PROC Specificity 100 % Genes 100 %
PROC gene analysis. By Molecular Haemostasis & Thrombosis GSTS Pathology - Guy's and St. Thomas' NHS Foundation Trust in United Kingdom. PROC Specificity 100 % Genes 100 %
Protein C deficiency. By Medical Genetics Laboratory Diagenom GmbH in Germany. PROC Specificity 100 % Genes 100 %
Single gene testing PROC. By CeGaT GmbH in Germany. PROC Specificity 100 % Genes 100 %
Protein C Deficiency (PROC). By MVZ Dortmund Dr. Eberhard & Partner in Germany. PROC Specificity 100 % Genes 100 %
Protein C deficiency, PROC sequencing. By Molecular Diagnostics Laboratory Seoul National University Hospital in South Korea. PROC Specificity 100 % Genes 100 %
aCGH Deletion/Duplication Analysis. By BloodCenter of Wisconsin Diagnostic Laboratories BloodCenter of Wisconsin, part of Versiti in United States. F2, F5, RUNX1, COL1A1, HPS1, BLOC1S3, HPS6, HPS5, HPS4, HPS3, CYCS, HAX1, ENG, MPL, WAS, LMNA, MYH9, GATA1, BLOC1S6, ACVRL1 , (...) View the complete list with 45 more genes Panel GTR000523364 complete gene list F2, F5, RUNX1, COL1A1, HPS1, BLOC1S3, HPS6, HPS5, HPS4, HPS3, CYCS, HAX1, ENG, MPL, WAS, LMNA, MYH9, GATA1, BLOC1S6, ACVRL1, F11, VWF, CFB, CFI, CFH, CFHR5, CD46, C3, THBD, F9, F8, CFHR1, CFHR3, DGKE, ADAMTS13, GP1BA, GP6, FGA, FGB, GGCX, TBXA2R, FGG, PLAU, HOXA11, MASTL, GP1BB, ELANE, STXBP2, G6PC3, RBM8A, PROC, VKORC1, F7, CFHR4, ACTN1, GP9, F10, F13A1, SERPINC1, LMAN1, C4BPA, C4BPB, PLA2G4A, HRG, SERPIND1 Specificity 2 % Genes 100 %
Protein C deficiency. By Regional Molecular Haemostasis Laboratory Birmingham Childrens Hospital NHS Foundation Trust in United Kingdom. PROC Specificity 100 % Genes 100 %
Invitae Protein C Deficiency Test. By Invitae in United States. PROC Specificity 100 % Genes 100 %
Invitae Hereditary Thrombophilia Panel. By Invitae in United States. F2, F5, PROS1, PROC, SERPINC1 Specificity 20 % Genes 100 %
Thrombophilia due to protein C deficiency: PROC gene sequence analysis. By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain. PROC Specificity 100 % Genes 100 %
Thrombophilia due to protein C deficiency: PROC gene deletion/duplication (MLPA) analysis. By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain. PROC Specificity 100 % Genes 100 %
PROC. By Fulgent Genetics Fulgent Genetics in United States. PROC Specificity 100 % Genes 100 %
Bleeding Disorder/Coagulopathy Panel. By Blueprint Genetics in Finland. F2, F5, RUNX1, DTNBP1, HPS1, BLOC1S3, HPS6, HPS5, HPS4, HPS3, CYCS, AP3B1, ANKRD26, MPL, WAS, FLNA, MYH9, GATA1, BLOC1S6, F11 , (...) View the complete list with 42 more genes Panel GTR000552647 complete gene list F2, F5, RUNX1, DTNBP1, HPS1, BLOC1S3, HPS6, HPS5, HPS4, HPS3, CYCS, AP3B1, ANKRD26, MPL, WAS, FLNA, MYH9, GATA1, BLOC1S6, F11, VWF, THBD, F9, F8, ADAMTS13, ABCG5, ABCG8, GP1BA, FGA, FGB, GGCX, TBXA2R, FGG, P2RY12, NBEAL2, HOXA11, GFI1B, ITGB3, ITGA2B, MASTL, ETV6, GP1BB, RBM8A, PROS1, PROC, VKORC1, F7, SRC, SLFN14, PRKACG, FYB1, FLI1, ACTN1, TUBB1, GP9, F10, F12, F13A1, SERPINC1, MECOM, MCFD2, LMAN1 Specificity 2 % Genes 100 %
Comprehensive Hematology Panel. By Blueprint Genetics in Finland. BRCA1, BRCA2, F2, F5, HFE, EPCAM, MSH2, PMS2, MSH6, MLH1, RECQL4, RUNX1, TP53, YARS2, PC, HBB, TYRP1, OCA2, AMN, SLC45A2 , (...) View the complete list with 219 more genes Panel GTR000552666 complete gene list BRCA1, BRCA2, F2, F5, HFE, EPCAM, MSH2, PMS2, MSH6, MLH1, RECQL4, RUNX1, TP53, YARS2, PC, HBB, TYRP1, OCA2, AMN, SLC45A2, MTR, TYR, SLC37A4, GPR143, CLCN7, DTNBP1, ALAS2, HPS1, BLOC1S3, HPS6, HPS5, HPS4, HPS3, GPI, RPL35A, CYCS, HAX1, AP3B1, PUS1, PDHA1, ABCB7, TCN2, AK2, NT5C3A, CUBN, CYB5R3, SLC25A38, ANKRD26, PDHX, FANCC, BLM, BRAF, HRAS, KRAS, MAP2K1, NRAS, PTPN11, RPS19, SOS1, TINF2, RIT1, MAP2K2, CBL, ATM, NBN, PALB2, CDKN2A, BRIP1, GATA2, PAX5, SBDS, CEBPA, PRF1, RAD51C, HBA1, G6PD, HBA2, MPL, RTEL1, WAS, NF1, FLNA, ATRX, VPS13B, ACTB, SLC19A2, MYH9, PIEZO1, GATA1, KLF1, RPS26, RPS10, RPL11, RPL5, RPS24, PKLR, CDAN1, SEC23B, MAGT1, FANCB, DKC1, ATR, CTSC, BLOC1S6, LYST, TERC, TERT, PARN, CSF2RA, ABCA3, SFTPC, SFTPB, SH2D1A, F11, VWF, THBD, CTC1, WRAP53, NHP2, NOP10, F9, F8, ADAMTS13, FANCA, FANCG, FANCF, FANCE, ABCG5, ABCG8, SLX4, FANCM, FANCL, FANCI, FANCD2, XRCC2, ERCC4, SRP72, THPO, RPS7, USB1, SLC46A1, GP1BA, FGA, FGB, GGCX, MYO5A, RAB27A, TBXA2R, FGG, P2RY12, NBEAL2, ITGA2, HOXA11, GFI1B, ITGB3, ITGA2B, MASTL, JAK2, IKZF1, ETV6, CSF3R, IFNGR2, SLC4A1, GP1BB, UNC13D, FAS, STX11, ELANE, XIAP, FASLG, STXBP2, ITK, RPL15, G6PC3, VPS45, RBM8A, GFI1, LAMTOR2, RAC2, CXCR4, EPB41, SPTB, SPTA1, ANK1, EPB42, RHAG, TPI1, GSS, C15orf41, LPIN2, PROS1, FADD, WIPF1, PROC, JAGN1, VKORC1, F7, ACD, EPOR, PGM3, EPAS1, DNAJC21, SAMD9, SAMD9L, SRC, SLFN14, PRKACG, FYB1, FLI1, ACTN1, TUBB1, GP9, REN, DDX41, EGLN1, CLPB, RNF168, TRNT1, F10, F12, TF, F13A1, DHFR, SERPINC1, F13B, TMPRSS6, MECOM, RPS29, MCFD2, LMAN1, WDR1, SMARCD2, AP3D1, MTHFD1, ERCC6L2, DCLRE1B, GINS1, MRTFA, ARPC1B Specificity 1 % Genes 100 %
Hereditary thrombophilia due to congenital protein C deficiency. By Bioarray in Spain. PROC Specificity 100 % Genes 100 %
CONGENITAL PROTEIN C DEFICIENCY. By Laboratorio de Genetica Clinica SL in Spain. PROC Specificity 100 % Genes 100 %
Congenital Protein C Deficiency, Sequencing PROC Gene. By Reference Laboratory Genetics in Spain. PROC Specificity 100 % Genes 100 %
Thrombophilia, hereditary, due to protein C deficiency. By Labor Dr. Wisplinghoff in Germany. PROC Specificity 100 % Genes 100 %
Phosphorus Female Infertility Panel. By Phosphorus Diagnostics LLC in United States. F2, F5, FMR1, FOXL2, CYP11A1, GALT, CYP17A1, LHCGR, KISS1R, GNRHR, NR5A1, GNAS, PROS1, PROC, CYP19A1, NOBOX, BMP15, FSHR, FSHB, SERPINC1 , (...) View the complete list with 6 more genes Panel GTR000558446 complete gene list F2, F5, FMR1, FOXL2, CYP11A1, GALT, CYP17A1, LHCGR, KISS1R, GNRHR, NR5A1, GNAS, PROS1, PROC, CYP19A1, NOBOX, BMP15, FSHR, FSHB, SERPINC1, ZP1, STAG3, CAPN10, GDF9, THADA, DENND1A Specificity 4 % Genes 100 %

Alternate names

Thrombophilia Due To Protein C Deficiency, Autosomal Recessive; Thph4 Is also known as protein c deficiency, autosomal recessive, proc deficiency, autosomal recessive.

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