Popliteal Pterygium Syndrome; Pps

Table of contents:

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

Genes related to Popliteal Pterygium Syndrome; Pps

IRF6

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Clinical Features

Top most frequent phenotypes and symptoms related to Popliteal Pterygium Syndrome; Pps

Cleft palate
Cryptorchidism
Flexion contracture
Abnormality of the skeletal system
Talipes equinovarus
Syndactyly
Dementia
Cleft lip
Toe syndactyly
Cleft upper lip

And another 22 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

Popliteal Pterygium Syndrome; Pps Is also known as cleft lip/palate, paramedian mucous cysts of the lower lip, popliteal pterygium, digital and genital anomalies, faciogenitopopliteal syndrome.

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.

Popliteal Pterygium Syndrome; Pps Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Abnormal/Ambiguous Genitalia Sequencing Panel. By Genetic Services Laboratory University of Chicago (United States). ROR2, SALL1, BMP4, SEMA3A, SOX9, SRD5A2, SRY, STAR, TBX15, CEP41, TSPYL1, WNT4, WNT7A, WT1, SETBP1, ZFPM2, UBR1, FIG4, IL17RD, CDKN1C , (...) View the complete list with 52 more genes Panel complete gene list ROR2, SALL1, BMP4, SEMA3A, SOX9, SRD5A2, SRY, STAR, TBX15, CEP41, TSPYL1, WNT4, WNT7A, WT1, SETBP1, ZFPM2, UBR1, FIG4, IL17RD, CDKN1C, ARX, GRIP1, FRAS1, SCARF2, B3GLCT, CHD7, BCOR, ICK, RSPO1, WDR60, FEZF1, FAT4, CREBBP, TCTN3, FREM2, CYB5A, CYP11A1, CYP11B1, CYP17A1, CYP19A1, ESCO2, CCNQ, DHCR24, DHCR7, DHH, SPECC1L, DYNC2H1, DNMT3B, NSMF, AKR1C2, GATA4, KISS1R, HCCS, RIPK4, HOXA13, HSD17B3, HSD3B2, IRF6, ANOS1, AR, LHCGR, LMNA, MAP3K1, MKKS, MKS1, NEK1, NR0B1, NR5A1, OPHN1, ATRX, POR, PTPN11 Specificity 2 % Genes 100 %
Hypospadias Sequencing Panel. By Genetic Services Laboratory University of Chicago (United States). SALL1, BMP4, SOX2, SRD5A2, HNF1B, MED12, WNT7A, WT1, FBXL4, ZEB2, SETBP1, TP63, PCNT, UBR1, FIG4, CDKN1C, ARX, GRIP1, FRAS1, EVC2 , (...) View the complete list with 41 more genes Panel complete gene list SALL1, BMP4, SOX2, SRD5A2, HNF1B, MED12, WNT7A, WT1, FBXL4, ZEB2, SETBP1, TP63, PCNT, UBR1, FIG4, CDKN1C, ARX, GRIP1, FRAS1, EVC2, B3GLCT, BCOR, CUL7, FAT4, CREBBP, FREM2, MAMLD1, CYP11A1, TMEM70, ESCO2, DHCR7, SPECC1L, WDR35, EPG5, DNMT3B, EFNB1, EVC, FGF10, FGFR1, FGFR2, FGFR3, FLNA, GLI3, GPC3, HBA1, HCCS, HOXA13, HSD3B2, IRF6, AR, MAP3K1, MID1, MKKS, NR5A1, PDE4D, PEX1, ATRX, PITX2, PTDSS1, PTPN11, RBBP8 Specificity 2 % Genes 100 %
IRF6 Exon 4 Sequencing. By GeneDx (United States). IRF6 Specificity 100 % Genes 100 %
IRF6. Complete sequencing. By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain). IRF6 Specificity 100 % Genes 100 %
IRF6. MLPA testing. By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain). IRF6 Specificity 100 % Genes 100 %
Van Der Woude syndrome (deletions/duplications of IRF6 gene). By CGC Genetics (Portugal). IRF6 Specificity 100 % Genes 100 %
Popliteal Pterygium Syndrome (sequence analysis of IRF6 gene). By CGC Genetics (Portugal). IRF6 Specificity 100 % Genes 100 %
van der Woude syndrome (sequence analysis of IRF6 gene). By CGC Genetics (Portugal). IRF6 Specificity 100 % Genes 100 %

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Sources and references

You can check the following sources for additional information.

OMIM Genetic Syndrome Finder

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