Pilomatrixoma

Table of contents:

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

Description

Pilomatrixoma is a rare and benign hair cell-derived tumor occurring mostly in young adults (usually under the age of 20) and characterized as a 3-30 mm solitary, painless, firm, mobile, deep dermal or subcutaneous tumor, most commonly found in the head, neck or upper extremities. When superficial, the tumors tint the skin blue-red. Multiple pilomatrixomas are seen in myotonic dystrophy, Gardner syndrome, Rubinstein-Taybi syndrome, and Turner syndrome (see these terms).

Genes related to Pilomatrixoma

CTNNB1
MUTYH
OVOL2
OVOL1

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Clinical Features

Phenotypes and symptoms related to Pilomatrixoma

Neoplasm
Carcinoma
Neoplasm of the skin
Pilomatrixoma

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

Pilomatrixoma Is also known as epithelioma calcificans of malherbe, pilomatricoma, ptr.

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.

Pilomatrixoma Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Syndromic Autism Panel. By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States). SCN1A, SCN2A, BRAF, SLC2A1, SLC9A6, SMC1A, KDM5C, CDKL5, STXBP1, TBR1, TCF4, MED12, TSC1, TSC2, UBE3A, HDAC8, CNTNAP2, FOXP2, CACNA1C, NSD1 , (...) View the complete list with 63 more genes Panel complete gene list SCN1A, SCN2A, BRAF, SLC2A1, SLC9A6, SMC1A, KDM5C, CDKL5, STXBP1, TBR1, TCF4, MED12, TSC1, TSC2, UBE3A, HDAC8, CNTNAP2, FOXP2, CACNA1C, NSD1, PCDH19, NLGN4X, NLGN3, SHANK3, ZEB2, CASK, SETBP1, ADNP, RAB39B, UBE3C, BCKDK, SYNE1, ARID1B, ARX, PHF6, TMLHE, SETD2, CHD8, MBD5, CHD7, TUBA1A, VPS13B, KIRREL3, NTNG1, CREBBP, EHMT1, SMC3, CTNNB1, PTCHD1, DHCR7, NIPBL, TBL1XR1, DYRK1A, FGD1, TMEM231, FMR1, FOLR1, FOXG1, FOXP1, ALDH5A1, GABRB3, GRIN2B, AMT, HOXA1, HPRT1, AP1S2, L1CAM, LAMC3, MECP2, MEF2C, MID1, NHS, NRXN1, OPHN1, PAFAH1B1, ATRX, PNKP, PQBP1, PTEN, PTPN11, RAD21, RAI1, RELN Specificity 2 % Genes 25 %
Rett-Angelman Syndrome 2nd-Tier Sequencing Panel. By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States). SLC2A1, SLC9A6, CDKL5, TCF4, UBE3A, CNTNAP2, PCDH19, ZEB2, ARX, MBD5, EHMT1, CTNNB1, FOLR1, FOXG1, MECP2, MEF2C, NRXN1, OPHN1, ATRX, PNKP , (...) View the complete list with 1 more genes Panel complete gene list SLC2A1, SLC9A6, CDKL5, TCF4, UBE3A, CNTNAP2, PCDH19, ZEB2, ARX, MBD5, EHMT1, CTNNB1, FOLR1, FOXG1, MECP2, MEF2C, NRXN1, OPHN1, ATRX, PNKP, PQBP1 Specificity 5 % Genes 25 %
Non-Specific Intellectual Disability Panel. By Genetic Services Laboratory University of Chicago (United States). RPS6KA3, CLIP1, SCN2A, ST3GAL3, SLC16A2, SLC25A1, SLC6A8, SLC9A6, SMARCA4, SMARCB1, ARID1A, SMC1A, KDM5C, SMS, SOX11, CDKL5, STXBP1, SYN1, SYNGAP1, SYP , (...) View the complete list with 153 more genes Panel complete gene list RPS6KA3, CLIP1, SCN2A, ST3GAL3, SLC16A2, SLC25A1, SLC6A8, SLC9A6, SMARCA4, SMARCB1, ARID1A, SMC1A, KDM5C, SMS, SOX11, CDKL5, STXBP1, SYN1, SYNGAP1, SYP, TAF2, TCF4, TSPAN7, MED12, UBE2A, UBE3A, EZR, VLDLR, ZNF41, ZNF711, ZNF81, FTSJ1, KIF4A, NSDHL, ERLIN2, CTCF, CA8, CNTNAP2, CACNG2, FMN2, PCDH19, NLGN4X, NLGN3, SHANK3, SHANK2, ARHGEF9, DEAF1, ZEB2, CASK, ADNP, PCNT, RAB39B, FBXO31, ZMYND11, BRWD3, CDH15, ZNF674, ARID1B, ARX, PHF6, ATP6AP2, ZDHHC9, NAA10, ZNF407, ZDHHC15, UPF3B, MBD5, L2HGDH, ZC3H14, CLIC2, PHF8, TUBA1A, BCOR, VPS13B, ALG6, KIRREL3, CRADD, MED23, EHMT1, CTNNB1, ADAT3, CUL4B, SETD5, OFD1, PGAP1, NSUN2, TTI2, PTCHD1, METTL23, DCX, D2HGDH, MAGT1, CCDC22, FRMPD4, DLG3, IQSEC2, DDHD2, WASHC4, SHROOM4, SOBP, ZNF526, NEXMIF, C12orf57, DYNC1H1, DNMT3A, PACS1, CRBN, CC2D1A, TUSC3, SRPX2, GATAD2B, TRAPPC9, HUWE1, DYRK1A, LINS1, SLC6A17, EIF2S3, EPB41L1, AGTR2, ACSL4, FLNA, FMR1, AFF2, FOXG1, FOXP1, ALDH5A1, GDI1, TECR, GRIA3, GRIK2, GRIN1, GRIN2A, GRIN2B, HSD17B10, HCFC1, ANK3, HPRT1, IDH2, IGBP1, AP1S2, AP4B1, AP4E1, AP4M1, AP4S1, IL1RAPL1, KCNJ10, KLF8, KPTN, L1CAM, LRP2, MAN1B1, MAOA, ARHGEF6, MECP2, MEF2C, MID1, MID2, NDST1, NHS, NRXN1, NRXN2, OCRL, OPHN1, PAK3, PDHA1, ATRX, KIF1A, PLP1, PQBP1, PRPS1, PRSS12, PURA, RAI1 Specificity 1 % Genes 25 %
Microcephaly Sequencing Panel. By Genetic Services Laboratory University of Chicago (United States). STIL, SLC2A1, SLC9A6, PLK4, CDKL5, TCF4, UBE3A, WWOX, RAB18, CRIPT, SLC25A19, ZEB2, CASK, TSEN34, ZNF335, ARFGEF2, PCNT, TBC1D20, TUBGCP4, STAMBP , (...) View the complete list with 50 more genes Panel complete gene list STIL, SLC2A1, SLC9A6, PLK4, CDKL5, TCF4, UBE3A, WWOX, RAB18, CRIPT, SLC25A19, ZEB2, CASK, TSEN34, ZNF335, ARFGEF2, PCNT, TBC1D20, TUBGCP4, STAMBP, RAB3GAP1, ORC6, RAB3GAP2, CENPJ, CDC6, NDE1, CDK6, SPATA5, TUBGCP6, IER3IP1, CENPE, CENPF, CDK5RAP2, ASPM, KIF1BP, MED17, KNL1, WDR62, CDT1, CTNNB1, SASS6, NHEJ1, CEP63, MFSD2A, TSEN54, TRMT10A, TSEN2, CEP135, CEP152, ASXL3, PYCR2, TRAPPC9, EFTUD2, DYRK1A, PHC1, FOXG1, KATNB1, KIF11, LIG4, MCPH1, MECP2, NBN, ORC1, ORC4, ATR, ATRX, PNKP, PQBP1, QARS, RBBP8 Specificity 2 % Genes 25 %
Microcephaly Deletion/Duplication Panel. By Genetic Services Laboratory University of Chicago (United States). STIL, SLC1A4, SLC2A1, SLC9A6, SOX11, PLK4, CDKL5, TCF4, UBE3A, USP18, WWOX, RAB18, CRIPT, SLC25A19, ZEB2, NIN, PPP1R15B, CASK, TSEN34, ZNF335 , (...) View the complete list with 59 more genes Panel complete gene list STIL, SLC1A4, SLC2A1, SLC9A6, SOX11, PLK4, CDKL5, TCF4, UBE3A, USP18, WWOX, RAB18, CRIPT, SLC25A19, ZEB2, NIN, PPP1R15B, CASK, TSEN34, ZNF335, ARFGEF2, PCNT, TBC1D20, TUBGCP4, STAMBP, RAB3GAP1, ORC6, RAB3GAP2, CENPJ, CDC6, NDE1, CDK6, SPATA5, TUBGCP6, IER3IP1, CENPE, CENPF, CDK5RAP2, ASPM, CIT, KIF1BP, MED17, KNL1, WDR62, CDT1, CTNNB1, SASS6, NHEJ1, CEP63, MFSD2A, TSEN54, TRMT10A, TSEN2, DIAPH1, CEP135, CEP152, ASXL3, PYCR2, TRAPPC9, EFTUD2, DYRK1A, PHC1, EIF2S3, AGMO, FOXG1, KATNB1, KIF11, LIG4, MCPH1, MECP2, NBN, ORC1, ORC4, ATR, ATRX, PNKP, PQBP1, QARS, RBBP8 Specificity 2 % Genes 25 %
CTNNB1. Complete sequencing. By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain). CTNNB1 Specificity 100 % Genes 25 %
Colorectal cancer, somatic (sequence analysis of CTNNB1 gene). By CGC Genetics (Portugal). CTNNB1 Specificity 100 % Genes 25 %
Comprehensive Vitreoretinopathy Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics (United States). ATOH7, CAPN5, RCBTB1, ATP6V0A2, ZNF408, TSPAN12, VCAN, CTNNB1, ISPD, FZD4, KIF11, LRP5, NDP Specificity 8 % Genes 25 %

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Sources and references

You can check the following sources for additional information.

ORPHANET MESH OMIM Rare Disease Symptoms Checker

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