PTCH1, patched 1, 5727

N. diseases: 604; N. variants: 194
Disease: Childhood Medulloblastoma ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0278510
Disease: Childhood Medulloblastoma
Childhood Medulloblastoma 		0.400 Biomarker disease BEFREE Medulloblastoma and RMS are also present in the murine model for Ptch1 deficiency. 12845631 2003
CUI: C0278510
Disease: Childhood Medulloblastoma
Childhood Medulloblastoma 		0.400 Biomarker disease BEFREE Ptc1(+/-) mice develop spontaneous rhabdomyosarcoma (RMS) and medulloblastoma (MB), as well as BCC following radiation exposure. 15925443 2006
CUI: C0278510
Disease: Childhood Medulloblastoma
Childhood Medulloblastoma 		0.400 GeneticVariation disease BEFREE Abnormal activation of components of the Hedgehog pathway--specifically, resulting from mutations in the Patched 1 gene--is associated with the development of basal cell carcinoma, as well as several other cancers, including medulloblastoma. 22177103 2011
CUI: C0278510
Disease: Childhood Medulloblastoma
Childhood Medulloblastoma 		0.400 Biomarker disease CTD_human Antitumor effects of a combined 5-aza-2'deoxycytidine and valproic acid treatment on rhabdomyosarcoma and medulloblastoma in Ptch mutant mice. 19155313 2009
CUI: C0278510
Disease: Childhood Medulloblastoma
Childhood Medulloblastoma 		0.400 Biomarker disease BEFREE By combining SB mutagenesis with Patched1 heterozygous mice (Ptch1(lacZ/+)), we observed an increased frequency of MB and decreased tumor-free survival compared with Ptch1(lacZ/+) controls. 24167280 2013
CUI: C0278510
Disease: Childhood Medulloblastoma
Childhood Medulloblastoma 		0.400 AlteredExpression disease BEFREE Constitutive activation of hedgehog signaling, often caused by PTCH1 inactivation and leading to inappropriate activation of GLI target genes, is crucial for the development of several human tumors including basal cell carcinoma of the skin and medulloblastoma. 15521068 2005
CUI: C0278510
Disease: Childhood Medulloblastoma
Childhood Medulloblastoma 		0.400 GeneticVariation disease BEFREE Conversely, patients with PTCH1 germline mutations experience Shh overstimulation resulting in Gorlin (Nevoid Basal Cell Carcinoma) syndrome and an increased incidence of malignant transformation of CGNPs leading to medulloblastoma formation. 27444290 2016
CUI: C0278510
Disease: Childhood Medulloblastoma
Childhood Medulloblastoma 		0.400 GeneticVariation disease BEFREE Each SUFU-positive family included a single case of medulloblastoma, whereas only two (1.7%) of 115 individuals with Gorlin syndrome and a PTCH1 mutation developed medulloblastoma. 25403219 2014
CUI: C0278510
Disease: Childhood Medulloblastoma
Childhood Medulloblastoma 		0.400 GeneticVariation disease BEFREE Eight genetic variants annotating three genes in the sonic hedgehog signaling pathway; CCND2, PTCH1, and GLI2, were found to be associated with the risk of medulloblastoma (P(combined) < 0.05). 26290144 2015
CUI: C0278510
Disease: Childhood Medulloblastoma
Childhood Medulloblastoma 		0.400 Biomarker disease BEFREE Finally, compound 24 led to significant regression of subcutaneous tumor generated by primary Ptch1-deficient medulloblastoma cells in SCID mouse. 28618224 2017
CUI: C0278510
Disease: Childhood Medulloblastoma
Childhood Medulloblastoma 		0.400 GeneticVariation disease BEFREE Gorlin syndrome is a rare multisystem inherited disorder which can predispose to basal cell carcinomas (BCCs), childhood medulloblastomas in addition to various developmental abnormalities; the majority of cases are due to mutations in the PTCH1 gene. 29356994 2018
CUI: C0278510
Disease: Childhood Medulloblastoma
Childhood Medulloblastoma 		0.400 GeneticVariation disease BEFREE Gorlin syndrome is associated with germline mutations in components of the Sonic Hedgehog pathway, including Patched1 (<i>PTCH1)</i> and Suppressor of fused (<i>SUFU)</i><i>SUFU</i> mutation carriers appear to have an especially high risk of early-onset medulloblastoma. 28620006 2017
CUI: C0278510
Disease: Childhood Medulloblastoma
Childhood Medulloblastoma 		0.400 Biomarker disease BEFREE Here we have used Ptc1(+/-); p53(-/-) mice which develop medulloblastoma to test the ability of cyclopamine to inhibit endogenous tumor growth in vivo after tumor initiation through intraperitoneal delivery, which avoids the brain damage associated with direct injection. 15652709 2005
CUI: C0278510
Disease: Childhood Medulloblastoma
Childhood Medulloblastoma 		0.400 Biomarker disease BEFREE Here we use a mouse model of Ptch1 heterozygosity to reveal a critical tumor suppressor function for Hic1 in medulloblastoma. 18347096 2008
CUI: C0278510
Disease: Childhood Medulloblastoma
Childhood Medulloblastoma 		0.400 GeneticVariation disease BEFREE Heterogeneity of familial medulloblastoma and contribution of germline PTCH1 and SUFU mutations to sporadic medulloblastoma. 21188540 2011
CUI: C0278510
Disease: Childhood Medulloblastoma
Childhood Medulloblastoma 		0.400 Biomarker disease BEFREE If one copy of the Ptch gene is lost, as in human Gorlin's syndrome and in Ptch(+/-) mice, MBs may form. 23389290 2013
CUI: C0278510
Disease: Childhood Medulloblastoma
Childhood Medulloblastoma 		0.400 GeneticVariation disease BEFREE In addition, Trim32 knockout enhances the incidence of medulloblastoma (MB) formation in the Ptch1 mutant mice. 31527798 2020
CUI: C0278510
Disease: Childhood Medulloblastoma
Childhood Medulloblastoma 		0.400 Biomarker disease BEFREE In conjunction with CD15, proliferating CD24+/CD15+ granule cell precursors (GCPs) were identified as a TIC population in Ptch1 deleted medulloblastoma. 30657775 2019
CUI: C0278510
Disease: Childhood Medulloblastoma
Childhood Medulloblastoma 		0.400 GeneticVariation disease BEFREE In contrast, mice lacking one or two functional Ink4c alleles and one copy of Patched (Ptc1) encoding the Shh receptor rapidly developed MBs that retained wild-type p53. 16260494 2005
CUI: C0278510
Disease: Childhood Medulloblastoma
Childhood Medulloblastoma 		0.400 AlteredExpression disease BEFREE In mice, Ptc1 haploinsufficiency and disruption of DNA repair (DNA ligase IV inactivation) or cell cycle regulation (Kip1, Ink4d, or Ink4c inactivation), in conjunction with p53 dysfunction, predispose to medulloblastoma. 14500378 2003
CUI: C0278510
Disease: Childhood Medulloblastoma
Childhood Medulloblastoma 		0.400 GeneticVariation disease BEFREE In several of these cases, activation of HH-GLI signaling is mediated by overproduction of HH ligands (e.g., prostate cancer), loss-of-function mutations in <i>PTCH1</i> or gain-of-function mutations in <i>SMO</i>, which occur in the majority of basal cell carcinoma (BCC), SHH-subtype medulloblastoma and rhabdomyosarcoma. 31244888 2019
CUI: C0278510
Disease: Childhood Medulloblastoma
Childhood Medulloblastoma 		0.400 GeneticVariation disease BEFREE It now appears that constitutive activation of Hedgehog signalling, by inactivating mutations in PTCH1 or activating mutations in the coreceptor SMOH, is required and possibly sufficient for basal cell carcinoma development and also contributes to the formation of a variety of other tumour types, including medulloblastoma and rhabdomyosarcoma. 11130178 2000
CUI: C0278510
Disease: Childhood Medulloblastoma
Childhood Medulloblastoma 		0.400 Biomarker disease BEFREE Learning that Ptc1 is a medulloblastoma tumor suppressor led directly to the identification of the Ptc1 ligand, Sonic hedgehog, as a powerful mitogen for cerebellar granule cell precursors. 11283316 2001
CUI: C0278510
Disease: Childhood Medulloblastoma
Childhood Medulloblastoma 		0.400 Biomarker disease BEFREE Mice heterozygous for Patched-1 (Ptc1+/-) that are either heterozygous or nullizygous for Kip1 developed medulloblastoma rapidly and with high penetrance. 19147535 2009
CUI: C0278510
Disease: Childhood Medulloblastoma
Childhood Medulloblastoma 		0.400 GeneticVariation disease BEFREE Mice heterozygous for patched homolog 1 mutations, like heterozygous patched 1 humans, have a higher incidence of Shh subgroup medulloblastoma (MB) and other tumors. 26935062 2017