Cowden Syndrome 5; Cws5

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 Cowden Syndrome 5; Cws5

PIK3CA

View recommended genes panels

Clinical Features

Top most frequent phenotypes and symptoms related to Cowden Syndrome 5; Cws5

Intellectual disability
Seizures
Hearing impairment
Scoliosis
Micrognathia
Cataract
High palate
Myopia
Intellectual disability, mild
Kyphosis

And another 27 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.

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.

Cowden Syndrome 5; Cws5 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Comprehensive Brain Malformation Panel. By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States). SHH, STIL, SIX3, SLC9A6, SOX2, CDKL5, TGIF1, MED12, CEP41, TUBA8, UBE3A, VLDLR, VRK1, ZIC2, ACTB, MRPS16, NSD1, RAB18, ACTG1, SLC25A19 , (...) View the complete list with 86 more genes Panel complete gene list SHH, STIL, SIX3, SLC9A6, SOX2, CDKL5, TGIF1, MED12, CEP41, TUBA8, UBE3A, VLDLR, VRK1, ZIC2, ACTB, MRPS16, NSD1, RAB18, ACTG1, SLC25A19, TMEM237, ZEB2, CASK, TSEN34, ARFGEF2, PCNT, RAB3GAP1, CDON, RAB3GAP2, CENPJ, EXOSC3, FKRP, ARX, PHF6, IER3IP1, CDK5RAP2, ASPM, POMGNT1, DISP1, POMT2, UPF3B, TUBA1A, TUBB3, RARS2, AHI1, COL4A1, KIF1BP, WDR62, TMEM216, ARL13B, CUL4B, TTC21B, OFD1, TCTN2, CPLANE1, TCTN1, TMEM138, DCX, TSEN54, TMEM67, TSEN2, DHCR7, NIPBL, CEP290, DLL1, RPGRIP1L, CC2D2A, CEP152, KIF7, SRPX2, TUBB2B, EMX2, EOMES, EZH2, FKTN, FGF8, FLNA, FOXG1, FOXH1, GAS1, GLI2, GLI3, ADGRG1, HESX1, L1CAM, LAMC3, LARGE1, MCPH1, MECP2, MKS1, MYCN, NFIX, NODAL, NPHP1, OPHN1, OTX2, PAFAH1B1, ATR, ATRX, PIK3CA, POMT1, PQBP1, PTCH1, PTEN, RBBP8, RELN Specificity 1 % Genes 100 %
Macrocephaly. By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States). MED12, NSD1, PHF6, UPF3B, CUL4B, EZH2, GLI3, NFIX, PIK3CA, PTCH1, PTEN Specificity 10 % Genes 100 %
PIK3CA sequence analysis (Somatic). By Genetic Diagnostic Laboratory University of Pennsylvania School of Medicine (United States). PIK3CA Specificity 100 % Genes 100 %
Somatic Overgrowth Gene Panel. By Genetic Diagnostic Laboratory University of Pennsylvania School of Medicine (United States). AKT1, AKT2, AKT3, MTOR, GNA11, GNAQ, PIK3CA, PIK3R2 Specificity 13 % Genes 100 %
PIK3CA Sequencing. By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States). PIK3CA Specificity 100 % Genes 100 %
Hereditary Thyroid Cancer Panel. By Genetic Services Laboratory University of Chicago (United States). SDHB, SDHD, TP53, WRN, DICER1, SRGAP1, AKT1, APC, PIK3CA, PRKAR1A, PTEN, RET Specificity 9 % Genes 100 %
PIK3CA. By Institute for Human Genetics University Clinic Freiburg (Germany). PIK3CA Specificity 100 % Genes 100 %
Vascular Malformations NGS Multi-Gene Panel (21 Genes). By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam (Netherlands). BMPR2, SOX18, TEK, GLMN, CAV1, KRIT1, ACVRL1, DOCK6, ANTXR1, CCM2, ENG, GDF2, GNAQ, KCNK3, KDR, SMAD4, MAP3K3, PDCD10, PIK3CA, PTEN , (...) View the complete list with 1 more genes Panel complete gene list BMPR2, SOX18, TEK, GLMN, CAV1, KRIT1, ACVRL1, DOCK6, ANTXR1, CCM2, ENG, GDF2, GNAQ, KCNK3, KDR, SMAD4, MAP3K3, PDCD10, PIK3CA, PTEN, RASA1 Specificity 5 % Genes 100 %

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Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Search Engine

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