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	basal cell nevus syndrome

Disease ID	443
Disease	basal cell nevus syndrome
Definition	Hereditary disorder consisting of multiple basal cell carcinomas, odontogenic keratocysts, and multiple skeletal defects, e.g., frontal and temporoparietal bossing, bifurcated and splayed ribs, kyphoscoliosis, fusion of vertebrae, and cervicothoracic spina bifida. Genetic transmission is autosomal dominant.
Synonym	basal cell carcinoma syndrome basal cell naevus syndrome basal cell nevus syndrome [disease/finding] bcns bcns - basal cell naevus syndrome bcns - basal cell nevus syndrome fifth phacomatoses fifth phacomatosis gorlin goltz syndrome gorlin syndrome gorlin syndrome (disorder) gorlin's syndrome gorlin-goltz syndrome gorlins syndrome gorlins's syndrome multiple basal cell carcinomas multiple basal cell nevi, odontogenic keratocysts, and skeletal anomalies naevoid basal cell carcinoma syndrome naevoid basal cell carcinoma syndrome (disorder) nbccs nbccs - naevoid basal cell carcinoma syndrome nbccs - nevoid basal cell carcinoma syndrome nevoid basal cell carcinoma syndrome nevus syndrome, basal cell syndrome, gorlin syndrome, gorlin-goltz
Orphanet	ORPHANET:377
OMIM	OMIM:109400
DOID	DOID:2512
UMLS	C0004779
MeSH	D001478
SNOMED-CT	SNOMEDCT_US_2016_09_01:69408002
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:25) C0007117 \| basal cell carcinoma \| 10 C0016045 \| fibromas \| 3 C0007117 \| basal cell carcinomas \| 3 C0042870 \| vitamin d defic \| 2 C0042870 \| vitamin d deficiency \| 2 C0025286 \| meningioma \| 2 C0520679 \| obstructive sleep apnea syndrome \| 1 C0027708 \| wilms tumor \| 1 C0042109 \| urticaria \| 1 C0025149 \| medulloblastoma \| 1 C0032285 \| pneumonia \| 1 C1857941 \| brooke-spiegler syndrome \| 1 C0007137 \| squamous cell carcinoma \| 1 C0037315 \| sleep apnea syndrome \| 1 C0029463 \| osteosarcoma \| 1 C0023267 \| leiomyomas \| 1 C0520679 \| obstructive sleep apnea \| 1 C0016045 \| fibroma \| 1 C0024305 \| non-hodgkin's lymphoma \| 1 C0025202 \| melanoma \| 1 C0019829 \| hodgkin's lymphoma \| 1 C0011649 \| dermoid cysts \| 1 C0037315 \| sleep apnea \| 1 C0004779 \| gorlin syndrome \| 1 C0011649 \| dermoid cyst \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:4) 5727 \| PTCH1 \| CLINVAR;CTD_human;GHR;ORPHANET;UNIPROT 8643 \| PTCH2 \| CLINVAR;ORPHANET 2736 \| GLI2 \| CTD_human 51684 \| SUFU \| CLINVAR;ORPHANET
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:47) 203 \| AK1 \| 1.483 \| DISEASES 401138 \| AMTN \| 2.685 \| DISEASES 672 \| BRCA1 \| 1.68 \| DISEASES 7464 \| CORO2A \| 2.164 \| DISEASES 1382 \| CRABP2 \| 1.221 \| DISEASES 8454 \| CUL1 \| 1.109 \| DISEASES 9231 \| DLG5 \| 1.625 \| DISEASES 10117 \| ENAM \| 1.321 \| DISEASES 55120 \| FANCL \| 1.046 \| DISEASES 64839 \| FBXL17 \| 3.275 \| DISEASES 2303 \| FOXC2 \| 1.08 \| DISEASES 2736 \| GLI2 \| 3.782 \| DISEASES 2737 \| GLI3 \| 3.073 \| DISEASES 2778 \| GNAS \| 1.561 \| DISEASES 2934 \| GSN \| 2.283 \| DISEASES 3109 \| HLA-DMB \| 1.285 \| DISEASES 112817 \| HOGA1 \| 2.098 \| DISEASES 3714 \| JAG2 \| 1.034 \| DISEASES 374654 \| KIF7 \| 1.979 \| DISEASES 4010 \| LMX1B \| 2.114 \| DISEASES 4157 \| MC1R \| 2.05 \| DISEASES 4312 \| MMP1 \| 1.023 \| DISEASES 23218 \| NBEAL2 \| 1.309 \| DISEASES 4763 \| NF1 \| 2.692 \| DISEASES 4771 \| NF2 \| 1.829 \| DISEASES 55666 \| NPLOC4 \| 2.352 \| DISEASES 56953 \| NT5M \| 1.163 \| DISEASES 54959 \| ODAM \| 2.198 \| DISEASES 5081 \| PAX7 \| 1.782 \| DISEASES 5332 \| PLCB4 \| 2.304 \| DISEASES 64840 \| PORCN \| 4.604 \| DISEASES 5727 \| PTCH1 \| 8.315 \| DISEASES 8643 \| PTCH2 \| 4.772 \| DISEASES 5728 \| PTEN \| 1.253 \| DISEASES 5774 \| PTPN3 \| 2.304 \| DISEASES 51715 \| RAB23 \| 1.796 \| DISEASES 5979 \| RET \| 1.296 \| DISEASES 4920 \| ROR2 \| 1.806 \| DISEASES 860 \| RUNX2 \| 1.401 \| DISEASES 10284 \| SAP18 \| 2.948 \| DISEASES 283652 \| SLC24A5 \| 2.102 \| DISEASES 6794 \| STK11 \| 1.042 \| DISEASES 51684 \| SUFU \| 5.064 \| DISEASES 6613 \| SUMO2 \| 1.457 \| DISEASES 6612 \| SUMO3 \| 1.486 \| DISEASES 7046 \| TGFBR1 \| 1.808 \| DISEASES 7507 \| XPA \| 2.541 \| DISEASES
Locus	(Waiting for update.)

Disease ID	443
Disease	basal cell nevus syndrome
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:32) HP:0002671 \| Basalioma \| 10 HP:0030731 \| Carcinoma \| 9 HP:0010603 \| Keratocystic odontogenic tumor \| 7 HP:0100612 \| Odontogenic neoplasm \| 6 HP:0010618 \| Ovarian fibroma \| 3 HP:0002664 \| Neoplasia \| 3 HP:0100512 \| Vitamin D deficiency \| 2 HP:0002858 \| Mengiomia \| 2 HP:0002885 \| Medulloblastoma \| 2 HP:0030451 \| Mesenteric cyst \| 2 HP:0002860 \| Squamous cell carcinoma \| 1 HP:0004756 \| Ventricular tachycardia \| 1 HP:0000858 \| Menstrual irregularity \| 1 HP:0001649 \| Tachycardia \| 1 HP:0001696 \| Situs inversus totalis \| 1 HP:0012189 \| Hodgkin disease \| 1 HP:0002667 \| Wilms tumor \| 1 HP:0010610 \| Palmar pits \| 1 HP:0000316 \| Increased distance between eye sockets \| 1 HP:0010614 \| Fibroma \| 1 HP:0002669 \| Osteosarcoma \| 1 HP:0002090 \| Pneumonia \| 1 HP:0000957 \| Cafe-au-lait macules \| 1 HP:0002861 \| Melanoma \| 1 HP:0002870 \| Obstructive sleep apnea \| 1 HP:0010535 \| Sleep apnea \| 1 HP:0001274 \| Absent corpus callosum \| 1 HP:0000324 \| Asymmetry of face \| 1 HP:0001025 \| Hives \| 1 HP:0012531 \| Pain \| 1 HP:0002104 \| Absence of spontaneous respiration \| 1 HP:0200040 \| Epidermal inclusion cyst \| 1

Disease ID	443
Disease	basal cell nevus syndrome
Manually Symptom	UMLS \| Name(Total Manually Symptoms:12) C1547219 \| basal cell carcinoma C1304306 \| metastatic basal cell carcinoma C1153706 \| endometrial adenocarcinoma C0520679 \| obstructive sleep apnea C0341038 \| keratocysts C0235031 \| neurologic symptoms C0078981 \| arachnoid cyst C0018552 \| hamartoma C0008373 \| cholesteatoma C0007117 \| basal cell epitheliomas C0007117 \| basal cell epithelioma C0007117 \| basal cell carcinomas
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:7) C0007117 \| basal cell carcinoma \| 5 C1708604 \| keratocystic odontogenic tumor \| 4 C0028880 \| odontogenic tumors \| 3 C0149951 \| ovarian fibroma \| 2 C0341038 \| odontogenic keratocyst \| 2 C0025286 \| meningioma \| 1 C0341038 \| keratocysts \| 1

Manually Genotype(Total Manually Genotypes:6)
Gene	Mutation	DOI	Article Title
PTCH1	Het del exon 19–22	doi:10.1038/gim.2011.65	Exon-level array CGH in a large clinical cohort demonstrates increased sensitivity of diagnostic testing for Mendelian disorders
PTCH1	Het del exon 16–24	doi:10.1038/gim.2011.65	Exon-level array CGH in a large clinical cohort demonstrates increased sensitivity of diagnostic testing for Mendelian disorders
PTCH1	Het del exon 21–24	doi:10.1038/gim.2011.65	Exon-level array CGH in a large clinical cohort demonstrates increased sensitivity of diagnostic testing for Mendelian disorders
PTCH1	Het del whole gene	doi:10.1038/gim.2011.65	Exon-level array CGH in a large clinical cohort demonstrates increased sensitivity of diagnostic testing for Mendelian disorders
PTCH1	Mosaic del exon 13–15	doi:10.1038/gim.2011.65	Exon-level array CGH in a large clinical cohort demonstrates increased sensitivity of diagnostic testing for Mendelian disorders
PTCH1	Mosaic del exon 6–7	doi:10.1038/gim.2011.65	Exon-level array CGH in a large clinical cohort demonstrates increased sensitivity of diagnostic testing for Mendelian disorders

Text Mining Genotype(Total Genotypes:0)
(Waiting for update.)

All Snps(Total Genotypes:6)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs121434397	NA	8643	PTCH2	umls:C0004779	CLINVAR	NA	0.241085767	NA	PTCH2	1	44827617	C	T
rs138911275	NA	5727	PTCH1	umls:C0004779	CLINVAR	NA	0.612749107	NA	PTCH1	9	95458026	G	A
rs199476090	NA	5727	PTCH1	umls:C0004779	CLINVAR	NA	0.612749107	NA	PTCH1	9	95479134	G	A
rs587776578	NA	51684	SUFU	umls:C0004779	CLINVAR	NA	0.321357209	NA	SUFU	10	102599545	G	A,C
rs786204056	NA	5727	PTCH1	umls:C0004779	CLINVAR	NA	0.612749107	NA	PTCH1	9	95458011	A	G
rs794727242	NA	5727	PTCH1	umls:C0004779	CLINVAR	NA	0.612749107	NA	PTCH1	9	95506458	C	A

GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)

GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)

Mapped by lexical matching(Total Items:0)
(Waiting for update.)

Mapped by homologous gene(Total Items:0)
(Waiting for update.)

Disease ID	443
Disease	basal cell nevus syndrome
Case	(Waiting for update.)

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