Ehlers-danlos Syndrome, Periodontal Type, 1; Edspd1

Description

Ehlers-Danlos syndrome (EDS) is a clinically and genetically heterogeneous group of connective tissue disorders defined by joint laxity and skin alterations that include hyperextensibility, atrophic scarring, and bruising. Periodontal EDS (EDSPD; previously designated 'EDS VIII') is a specific subtype of EDS with autosomal dominant inheritance, in which the defining feature is an EDS phenotype combined with severe periodontal inflammation. In childhood, periodontal inflammation in EDSPD is characterized by extensive gingivitis in response to mild plaque accumulation. In the teens, early-onset periodontitis leads to inflammatory destruction of dental attachment and premature loss of teeth. Other clinical features include pretibial hyperpigmentation, acrogeria, skin and gum fragility, scarring, generalized and/or distal joint hypermobility, and bruising out of proportion to trauma. There are also reports of life-threatening complications such as arterial or gastrointestinal ruptures (summary by Kapferer-Seebacher et al., 2016). Genetic Heterogeneity of Ehlers-Danlos Syndrome, Periodontal TypeEhlers-Danlos syndrome periodontal type 2 (EDSPD2 ) is caused by mutation in the C1S gene (OMIM ) on chromosome 12p13. ReviewsKapferer-Seebacher et al. (2016) tabulated the clinical features of 93 EDSPD patients with mutations in the C1R or C1S genes (77 and 16 patients, respectively) and observed that the most prevalent features included early-onset periodontitis, gingival recessions, and thin gingiva and/or absence of attached gingiva. Easy bruising was present in most patients, as were pretibial hyperpigmentation, skin fragility, and mildly elastic skin. About half of patients exhibited atrophic scars or wide scarring and/or prominent vasculature. Joint hypermobility was not a consistent finding, and if present was mild and often limited to small joints. Other variable features included recurrent infections, joint pain, flat feet, marfanoid facial features, scoliosis, osteoarthritis, and hernias. A minority of patients had joint dislocations; aneurysms occurred in 4 families, and autoimmune disorders occurred in 1 family. Cancer appeared to be more prevalent in patients with C1S mutations.

Genes related to Ehlers-danlos Syndrome, Periodontal Type, 1; Edspd1

Clinical Features

Top most frequent phenotypes and symptoms related to Ehlers-danlos Syndrome, Periodontal Type, 1; Edspd1

Short stature
Pica
Scoliosis
Micrognathia
Milia
Flexion contracture
Pain
Edema
Abnormality of the dentition
Inguinal hernia

And another 57 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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Ehlers-danlos Syndrome, Periodontal Type, 1; Edspd1 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Comprehensive Ehlers-Danlos Syndrome Panel. By Collagen Diagnostic Laboratory University of Washington in United States. ATP7A, COL1A1, COL1A2, COL3A1, SLC39A13, COL5A1, COL5A2, PLOD1, ADAMTS2, FKBP14, CHST14, C1S, C1R Specificity 16 % Genes 100 %
Ehlers-Danlos Syndromes Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics in United States. ATP7A, B4GALT7, FBLN5, COL1A1, COL1A2, COL3A1, ELN, PYCR1, ATP6V0A2, ALDH18A1, SLC39A13, COL5A1, COL5A2, PLOD1, PLP1, ADAMTS2, FLNA, ADAMTSL2, SMAD3, TGFBR1 , (...) View the complete list with 25 more genes Panel GTR000514879 complete gene list ATP7A, B4GALT7, FBLN5, COL1A1, COL1A2, COL3A1, ELN, PYCR1, ATP6V0A2, ALDH18A1, SLC39A13, COL5A1, COL5A2, PLOD1, PLP1, ADAMTS2, FLNA, ADAMTSL2, SMAD3, TGFBR1, TGFBR2, FKBP14, PRDM5, TNXB, CHST14, ZNF469, EFEMP2, COL12A1, SPARC, B3GAT3, GORAB, C1S, C1R, B3GALT6, GGCX, TNFRSF1A, RIN2, CHST3, DSE, FLNB, ATP6AP1, LZTS1, ATP6V1A, AEBP1, ATP6V1E1 Specificity 5 % Genes 100 %
Ehlers-Danlos syndrome, periodontal type Comprehensive panel. By Connective Tissue Gene Tests in United States. C1S, C1R Specificity 100 % Genes 100 %
Ehlers-Danlos syndrome NGS panel - Dominant & Recessive. By Connective Tissue Gene Tests in United States. ATP7A, B4GALT7, COL1A1, COL1A2, COL3A1, SLC39A13, COL5A1, COL5A2, PLOD1, ADAMTS2, FLNA, FKBP14, PRDM5, CHST14, ZNF469, COL12A1, C1S, C1R, B3GALT6, DSE Specificity 10 % Genes 100 %
Ehlers-Danlos syndrome Comprehensive panel - Dominant. By Connective Tissue Gene Tests in United States. COL1A1, COL1A2, COL3A1, COL5A1, COL5A2, FLNA, COL12A1, C1S, C1R Specificity 23 % Genes 100 %
Ehlers-Danlos syndrome, periodontal type Deletion / Duplication panel. By Connective Tissue Gene Tests in United States. C1S, C1R Specificity 100 % Genes 100 %
Ehlers-Danlos syndrome, periodontal type NGS panel. By Connective Tissue Gene Tests in United States. C1S, C1R Specificity 100 % Genes 100 %
Ehlers-Danlos syndrome NGS panel - Dominant. By Connective Tissue Gene Tests in United States. COL1A1, COL1A2, COL3A1, COL5A1, COL5A2, FLNA, COL12A1, C1S, C1R Specificity 23 % Genes 100 %
Ehlers-Danlos syndrome Deletion / Duplication panel - Dominant. By Connective Tissue Gene Tests in United States. COL1A1, COL1A2, COL3A1, COL5A1, COL5A2, FLNA, COL12A1, C1S, C1R Specificity 23 % Genes 100 %
Ehlers-Danlos syndrome Deletion / Duplication panel - Dominant & Recessive. By Connective Tissue Gene Tests in United States. ATP7A, B4GALT7, COL1A1, COL1A2, COL3A1, SLC39A13, COL5A1, COL5A2, PLOD1, ADAMTS2, FLNA, FKBP14, PRDM5, CHST14, ZNF469, COL12A1, C1S, C1R, B3GALT6, DSE Specificity 10 % Genes 100 %
Ehlers-Danlos syndrome Comprehensive panel - Dominant & Recessive. By Connective Tissue Gene Tests in United States. ATP7A, B4GALT7, COL1A1, COL1A2, COL3A1, SLC39A13, COL5A1, COL5A2, PLOD1, ADAMTS2, FLNA, FKBP14, PRDM5, CHST14, ZNF469, COL12A1, C1S, C1R, B3GALT6, DSE Specificity 10 % Genes 100 %
Complement deficiencies Panel. By CeGaT GmbH in Germany. PIGA, CFB, CFI, CFH, CD46, C3, THBD, C1S, C1R, CFHR1, CFHR3, DGKE, MASP1, C7, FCN3, CFD, C2, SERPING1, C1QC, C1QA , (...) View the complete list with 14 more genes Panel GTR000528898 complete gene list PIGA, CFB, CFI, CFH, CD46, C3, THBD, C1S, C1R, CFHR1, CFHR3, DGKE, MASP1, C7, FCN3, CFD, C2, SERPING1, C1QC, C1QA, C1QB, ITGB2, CFP, COLEC11, C4B, C5, CD59, C9, C4A, C6, C8B, C8A, C8G, MASP2 Specificity 6 % Genes 100 %
C1S. By Fulgent Genetics Fulgent Genetics in United States. C1S Specificity 100 % Genes 50 %
Primary Immunodeficiency Panel. By Blueprint Genetics in Finland. PMS2, RECQL4, STAT1, SLC37A4, CASP8, CLCN7, HAX1, AP3B1, UNG, TAP1, TCN2, AK2, SLC35C1, CYBA, STAT3, ADA, MOGS, IL2RG, PNP, AIRE , (...) View the complete list with 255 more genes Panel GTR000552725 complete gene list PMS2, RECQL4, STAT1, SLC37A4, CASP8, CLCN7, HAX1, AP3B1, UNG, TAP1, TCN2, AK2, SLC35C1, CYBA, STAT3, ADA, MOGS, IL2RG, PNP, AIRE, CFTR, BLM, CHD7, KRAS, NRAS, RMRP, TINF2, ATM, MRE11, NBN, GATA2, SBDS, PRF1, G6PD, CYBB, DCLRE1C, SLC7A7, RTEL1, WAS, BTK, PIGA, SAMHD1, RNASEH2A, RNASEH2C, RNASEH2B, OFD1, TREX1, VPS13B, TBX1, ACTB, NLRP3, MVK, FOXP3, MAGT1, DKC1, CTSC, UNC119, LYST, TERC, TERT, PARN, DOCK8, CSF2RA, CSF2RB, PSMB8, HELLS, IFIH1, ADAR, MEFV, SH2D1A, NCF2, NCF4, JAK3, CFB, CFI, CFH, CD46, C3, THBD, CTC1, WRAP53, NHP2, NOP10, C1S, NOD2, DGKE, SLC29A3, MASP1, SRP72, USB1, SLC46A1, FERMT3, MYO5A, RAB27A, STIM1, MYD88, IKZF1, CSF3R, TNFRSF13B, AICDA, CD40, CD40LG, IFNGR1, IFNGR2, CD3E, CD3D, IL7R, RAG2, RAG1, ZAP70, POLE, UNC13D, FAS, STX11, ELANE, XIAP, FASLG, CASP10, STXBP2, ITK, G6PC3, VPS45, GFI1, LAMTOR2, RAC2, CXCR4, NHEJ1, LIG4, STAT5B, PTPRC, ORAI1, FOXN1, LPIN2, PIK3CD, IRAK4, LRBA, NFKBIA, FADD, CD27, WIPF1, CIITA, IL12RB1, RFX5, RFXANK, RFXAP, STK4, TNFRSF1A, NFKB2, CTLA4, EPG5, IL10RA, JAGN1, NLRC4, SMARCAL1, TTC7A, PIK3R1, ACD, CARD9, CD19, CR2, CD81, ICOS, IL10RB, PRKDC, TYK2, CFD, ADA2, IL12B, ISG15, PRKCD, PSTPIP1, PGM3, DNAJC21, C2, UNC93B1, NLRP12, TMEM173, CARD11, SAMD9, SAMD9L, IL2RA, DNMT3B, RNU4ATAC, USP18, CLPB, RNF168, TRNT1, SERPING1, SPINK5, IL36RN, CARD14, NLRP1, TNFAIP3, NCSTN, PSENEN, IL1RN, DDX58, IL10, RNF31, C1QC, ACP5, C1QA, RBCK1, C1QB, PLCG2, BLNK, CD79A, IGLL1, CD79B, NCF1, ITGB2, PEPD, CFP, TMC6, TMC8, COLEC11, CEBPE, COPA, NFKB1, IL21, IL21R, MALT1, TRAF3IP2, IL17RA, TCF3, CD3G, CORO1A, CD70, WDR1, SMARCD2, EXTL3, STAT2, MTHFD1, CD8A, CD247, IRF8, BCL10, ADAM17, CD59, ZBTB24, ERCC6L2, CTPS1, LCK, IKBKB, RPSA, SP110, RHOH, TNFRSF4, TAP2, TAPBP, IL17RC, MAP3K14, DOCK2, DCLRE1B, RORC, CD55, IFNAR2, NSMCE3, CDCA7, GINS1, MSN, MRTFA, LAT, BACH2, ARPC1B, JAK1, HYOU1, POLE2, TFRC, ZNF341, CARMIL2, RASGRP1, IRF2BP2, OTULIN, BCL11B Specificity 1 % Genes 50 %
Complement System Disorder Panel. By Blueprint Genetics in Finland. CCDC39, PIGA, OFD1, CCNO, SPAG1, CCDC65, DNAAF4, RSPH1, ARMC4, ZMYND10, DRC1, CCDC114, LRRC6, DNAAF5, CCDC103, DNAAF3, DNAL1, CCDC40, DNAAF1, RSPH9 , (...) View the complete list with 55 more genes Panel GTR000552657 complete gene list CCDC39, PIGA, OFD1, CCNO, SPAG1, CCDC65, DNAAF4, RSPH1, ARMC4, ZMYND10, DRC1, CCDC114, LRRC6, DNAAF5, CCDC103, DNAAF3, DNAL1, CCDC40, DNAAF1, RSPH9, RSPH4A, DNAAF2, DNAI2, DNAH11, NME8, DNAH5, DNAI1, ADIPOR1, CFB, CFI, CFH, CD46, C3, THBD, MAT2A, C1S, DGKE, MASP1, C7, CR2, FCN3, CFD, C2, SERPING1, C1QC, C1QA, C1QB, CFP, COLEC11, HYDIN, CLU, C5, C4BPA, CD59, C9, C6, C8B, C8A, C8G, MASP2, C4BPB, ADIPOQ, CD55, CD93, FCN2, FCN1, CRP, C3AR1, C1QBP, C5AR2, C5AR1, VSIG4, VTN, ADIPOR2, PTX3 Specificity 2 % Genes 50 %
ATYPICAL HEMOLYTIC UREMIC SYNDROME: NGS PANEL. By Laboratorio de Genetica Clinica SL in Spain. MMACHC, CFB, CFI, CFH, CFHR5, CD46, C3, THBD, C1S, CFHR1, CFHR3, DGKE, C2, C9, C8A Specificity 7 % Genes 50 %
C1R. By Fulgent Genetics Fulgent Genetics in United States. C1R Specificity 100 % Genes 50 %

Alternate names

Ehlers-danlos Syndrome, Periodontal Type, 1; Edspd1 Is also known as ehlers-danlos syndrome, type viii;eds8, eds viii, ehlers-danlos syndrome, periodontitis type, ehlers-danlos syndrome, periodontosis type;eds viii; ehlers-danlos syndrome type 8.

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