Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency

Table of contents:

Description
Related genes
Clinical Features
Incidence and onset information
Alternative Names
Researches and researchers
Gene Panels
Sources and references

Description

Congenital protein S deficiency is an inherited coagulation disorder characterized by recurrent venous thrombosis symptoms due to reduced synthesis and/or activity levels of protein S.

Genes related to Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency

PROS1

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Clinical Features

Top most frequent phenotypes and symptoms related to Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency

Retinopathy
Abnormality of skin pigmentation
Thin skin
Skin ulcer
Purpura
Aplasia/Hypoplasia of the skin
Pulmonary embolism
Gangrene
Deep venous thrombosis
Abnormality of the cerebral vasculature

And another 4 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
— No data available about the known clinical features onset.

Alternative names

Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency Is also known as autosomal recessive thrombophilia due to congenital protein s deficiency.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.

Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency Recommended genes panels

Panel Name, Specifity and genes Tested/covered
PROS1 Sequencing. By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States). PROS1 Specificity 100 % Genes 100 %
Protein S Deficiency. By Sheffield Diagnostic Genetics Service Sheffield Children's NHS Foundation Trust (United Kingdom). PROS1 Specificity 100 % Genes 100 %
Protein S deficiency (sequence analysis of PROS1 gene). By CGC Genetics (Portugal). PROS1 Specificity 100 % Genes 100 %
Protein S deficiency (deletion/duplication analysis of PROS1 gene). By CGC Genetics (Portugal). PROS1 Specificity 100 % Genes 100 %
Protein S deficiency. By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders (Germany). PROS1 Specificity 100 % Genes 100 %
Protein S Deficiency via PROS1 Gene Sequencing with CNV Detection. By PreventionGenetics PreventionGenetics (United States). PROS1 Specificity 100 % Genes 100 %
Protein S Deficiency, AD. By Centogene AG - the Rare Disease Company (Germany). PROS1 Specificity 100 % Genes 100 %
CentoICU platinum plus. By Centogene AG - the Rare Disease Company (Germany). RMRP, BCS1L, BDNF, RPS19, RPS6KA3, SALL1, SCN1A, SCN2A, SFTPB, SFTPC, SFTPD, ST3GAL5, STIL, SIX1, SIX5, SLC16A1, SLCO1B1, SLCO1B3, SLC22A5, BRAF , (...) View the complete list with 487 more genes Panel complete gene list RMRP, BCS1L, BDNF, RPS19, RPS6KA3, SALL1, SCN1A, SCN2A, SFTPB, SFTPC, SFTPD, ST3GAL5, STIL, SIX1, SIX5, SLC16A1, SLCO1B1, SLCO1B3, SLC22A5, BRAF, SLC25A1, SLC25A13, SLC26A2, SLC2A1, BRCA2, SLC3A1, SLC5A5, SLC7A7, SLC9A6, SMPD1, SOS1, SOX2, BTD, SPINK1, SPR, SPTA1, SPTAN1, SPTB, BTK, STAR, STIM1, CDKL5, STS, STXBP1, SUCLA2, SUCLG1, SUOX, TAT, TAZ, TBX19, TBX5, HNF1A, HNF1B, TCF4, TCN2, TG, TGM1, THRA, TJP2, ACOX1, CD40, CD40LG, TPO, SERPING1, TSC1, TSC2, TSHB, TSPYL1, UBE3A, UCP2, UGT1A1, UMPS, UNG, UQCRC2, UROS, KDM6A, WAS, WFS1, WT1, ZAP70, AICDA, DUOX2, ADAMTS13, ALOXE3, CACNA1C, CACNA1D, CACNB2, SLC25A20, BLNK, NSD1, RAB18, SLC25A19, CALM1, NPC2, WNK1, ABCA12, ZEB2, CASK, CASR, SHOC2, GPHN, CBS, LRPPRC, NDUFAF5, SALL4, SUGCT, PCNT, NFU1, UPB1, ACTN1, CD19, CARD11, SOX6, LIAS, BSND, CD320, CD3D, CD3E, CD3G, CD247, BCKDK, CD79A, CD79B, CD81, RAB3GAP1, CDAN1, RAB3GAP2, CENPJ, AASS, ADGRV1, LRBA, DCLRE1C, TNFRSF13C, PDSS1, NAGS, P2RY12, TNFRSF13B, IER3IP1, ADA, CDK5RAP2, NAA10, NDUFAF1, CFTR, MMAA, LRRC8A, MASTL, ASPM, PSAT1, FRAS1, DOCK8, P3H1, MMAB, SBDS, POMT2, EVC2, SPRED1, NDUFA11, SUMF1, CHD7, AARS2, SERAC1, UQCC2, PNPLA1, PDHX, ACAD9, NHLRC1, MPC1, LHX4, COL11A1, COL17A1, COL1A2, COL7A1, COMP, CORO1A, COX15, ABAT, LMBRD1, PDSS2, PNPT1, CPT1A, ETHE1, CPT2, CR2, DOLK, LIPN, GNE, PTF1A, CERS3, CRTAP, GLYCTK, WDR62, MMACHC, CSTB, CTNS, CTPS1, MMADHC, COQ2, CTSD, COQ9, PPM1K, TRMU, ADK, NHEJ1, CYP11B1, CYP11B2, CYP17A1, C12orf65, CYP4F22, JAGN1, FOXRED1, C15orf41, DBT, DDC, ACSF3, NIPAL4, NDUFAF2, D2HGDH, GLIS3, DHCR7, NDUFAF6, NIPBL, MAGT1, DLAT, DLD, CEP290, ADSL, ANKRD26, CEP152, DNA2, GPSM2, GNPTAB, LAMTOR2, SLC52A1, PNPO, SLC46A1, DNAJC19, EDN3, AGA, AGL, EGR2, EIF2AK3, DUOXA2, ABCA3, ELANE, EPB42, COA5, SDHAF1, AGXT, EPM2A, AHCY, ETFA, ETFB, ETFDH, EVC, EYA1, EYA4, F10, F11, F13A1, F2, F5, F7, F8, F9, FAH, FANCA, FANCB, FANCC, FANCD2, FBN1, FBP1, FKTN, FGA, FGB, FGFR2, FGG, FH, ATP8B1, AKAP9, FOXG1, AKR1D1, AKT2, ALAS2, PET100, FUCA1, ALDH3A2, G6PD, SLC37A4, GAA, ALDH5A1, GALC, GALE, GALK1, GALNS, GALT, GAMT, ALDOA, ALDOB, GATA1, GATA3, GATM, GBE1, GCDH, GCH1, GCK, GFI1B, ALMS1, GJB2, GK, GLA, GLB1, ALOX12B, GLDC, GNA11, ALPL, GNAS, GNMT, GP1BA, GP9, GPC3, GSS, GUSB, GYS2, AMT, HADH, HSD17B10, HADHA, HADHB, HBB, HESX1, HEXA, HEXB, HGD, HIBCH, ANK1, HLCS, HMGCL, HMGCS2, HNF4A, HPD, HPRT1, HRAS, HSD17B4, HSD3B2, ABCC2, ICOS, IRF8, IGF1, IGF1R, IGLL1, ABCC8, IKBKB, IL12RB1, IL2, IL21R, IL2RA, IL2RG, IL7R, INS, APOC2, INSR, PDX1, ITGA2B, ITGA6, ITGB3, ITGB4, IVD, JAG1, JAK3, KCNE1, KCNH2, KCNJ10, KCNJ11, KCNQ1, KCNQ2, KCNQ3, KCNQ4, KLF1, KRAS, KRT5, LAMA2, LAMA3, LAMB3, LAMC2, LCK, LHX3, LIG4, LIPA, ARG1, ABCD4, MALT1, MAN2B1, MAP2K1, MAP2K2, MAT1A, MCCC1, MCCC2, MCM4, MCPH1, MECP2, MEF2C, MITF, MKKS, ARSA, KMT2D, ARSB, MLYCD, ALDH6A1, MOCS1, MOCS2, MTHFR, ASL, MTR, MTRR, MMUT, ASNS, MVK, MYCN, ASPA, ASS1, NDUFA2, NDUFS2, NDUFS4, NDUFS7, NDUFV2, SERPINC1, NEU1, NFKB2, NOTCH2, PNP, NPC1, NR0B1, NRAS, OAT, OGDH, OPA3, OPLAH, OPRM1, OTC, OXCT1, ATP6V1B1, P2RX1, PAH, PAX2, PAX3, PAX8, PC, PCBD1, PCCA, ATP7A, ACAD8, ATP7B, PCK1, AIFM1, ALDH7A1, ACADL, PDHA1, PDHB, ATR, PEPD, ATRX, ACADM, AUH, PHGDH, SERPINA1, PIK3CD, ACADS, PKD2, PKHD1, PKLR, PLEC, PLOD1, ACADSB, PMM2, PMP22, PHOX2B, POLG, ACADVL, POMC, POMT1, POU1F1, CTSA, PDP1, ACAT1, PRKAG2, PRKDC, PRODH, PROP1, PROS1, PRPS1, PSAP, PSEN1, PSPH, PTPN11, PTPRC, PTS, QDPR, RAC2, RAF1, RAG1, RAG2, BCKDHA, BCKDHB, RB1, RBBP8, RBM8A, RET Specificity 1 % Genes 100 %

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Sources and references

You can check the following sources for additional information.

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