Craniopharyngioma

Table of contents:

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

Description

Craniopharyngiomas are benign slow growing tumours that are located within the sellar and parasellar regions of the central nervous system.

Genes related to Craniopharyngioma

CTNNB1
BRAF

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Clinical Features

Top most frequent phenotypes and symptoms related to Craniopharyngioma

Intellectual disability
Seizures
Global developmental delay
Hearing impairment
Growth delay
Neoplasm
Optic atrophy
Fatigue
Hydrocephalus
Vomiting

And another 54 symptoms. If you need more information about this disease we can help you.

Click here to know more about Mendelian.

Incidence and onset information

— Based on the latest data available CRANIOPHARYNGIOMA have a estimated incidence of 1 per 100k in Europe.
— 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.

Craniopharyngioma 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 3 % Genes 100 %
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 50 %
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 50 %
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 50 %
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 50 %
CTNNB1. Complete sequencing. By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain). CTNNB1 Specificity 100 % Genes 50 %
Colorectal cancer, somatic (sequence analysis of CTNNB1 gene). By CGC Genetics (Portugal). CTNNB1 Specificity 100 % Genes 50 %
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 50 %

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Sources and references

You can check the following sources for additional information.

ORPHANET Rare Disease Symptoms Checker

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