Basal cell nevus syndrome 1

Preferred Label : Basal cell nevus syndrome 1;

Symbol : BCNS1;

CISMeF acronym : BCNS; NBCCS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Gorlin syndrome; NBCCS; Nevoid basal cell carcinoma syndrome; Multiple basal cell nevi, odontogenic keratocysts, and skeletal anomalies; Gorlin-goltz syndrome; BCNS; Basal cell nevus syndrome;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the SUFU negative regulator of hedgehog signaling gene (SUFU, 607035.0003); Caused by mutation in the patched 2 gene (PTCH2, 603673.0003); Caused by mutation in the patched 1 gene (PTCH1, 601309.0001);

Prefixed ID : #109400;

Détails

Origin ID

109400;

UMLS CUI

C0004779;

Automatic exact mappings (from CISMeF team)
- Basal cell nevus syndrome [ACR pathology]
- Basal cell nevus syndrome [ACR pathology]
- Gorlin syndrome [ICD-11 Subcategory]
- Gorlin-Goltz syndrome [MedDRA LLT]
- patched 1 [ORDO Gene]
- patched 1 [HGNC gene]
Currated CISMeF NLP mapping
- Basal cell naevus syndrome [MedDRA Preferred Term]
- Basal cell nevus syndrome [PASCAL descriptor]
- Basal cell nevus syndrome [MedDRA LLT]
- Gorlin syndrome [ORDO Disease]
- Gorlin syndrome (disorder) [SNOMED CT concept]
- Nevoid Basal Cell Carcinoma Syndrome [NCIt concept]
- basal cell nevus syndrome [MeSH Descriptor]
- basal cell nevus syndrome [MeSH concept]
- gorlin syndrome [SNOMED Notion]
- nevoid basal cell carcinoma syndrome [DO Concept]
DO Cross reference
- nevoid basal cell carcinoma syndrome [DO Concept]
False automatic mappings
- Focal dermal hypoplasia [ORDO Disease]
- Goltz syndrome (disorder) [SNOMED CT concept]
- PTCH1 wt Allele [NCIt concept]
- focal dermal hypoplasia [MeSH Descriptor]
- focal dermal hypoplasia [MeSH concept]
Genes related to phenotype
- Patched 1 [OMIM gene]
HPO term(s)
- Abnormal sternum morphology [HPO term]
- Anteriorly splayed ribs [HPO term]
- Autosomal dominant inheritance [HPO term]
- Basal cell carcinoma [HPO term]
- Bifid ribs [HPO term]
- Brachydactyly [HPO term]
- Bridged sella turcica [HPO term]
- Broad face [HPO term]
- Calcification of falx cerebri [HPO term]
- Cardiac fibroma [HPO term]
- Cardiac rhabdomyoma [HPO term]
- Cataract [HPO term]
- Cleft palate [HPO term]
- Cleft upper lip [HPO term]
- Coarse facial features [HPO term]
- Down-sloping shoulders [HPO term]
- Frontal bossing [HPO term]
- Glaucoma [HPO term]
- Hamartomatous stomach polyps [HPO term]
- Hemivertebrae [HPO term]
- Heterogeneous [HPO term]
- Hydrocephalus [HPO term]
- Hypertelorism [HPO term]
- Intellectual disability [HPO term]
- Iris coloboma [HPO term]
- Irregular ossification of hand bones [HPO term]
- Kyphoscoliosis [HPO term]
- Macrocephaly [HPO term]
- Mandibular prognathia [HPO term]
- Medulloblastoma [HPO term]
- Microphthalmia [HPO term]
- Mild mandibular prognathism [HPO term]
- Milia [HPO term]
- Motor delay [HPO term]
- Odontogenic keratocysts of the jaw [HPO term]
- Orbital cyst [HPO term]
- Ovarian carcinoma [HPO term]
- Ovarian fibroma [HPO term]
- Palmar pits [HPO term]
- Parietal bossing [HPO term]
- Plantar pits [HPO term]
- Polydactyly [HPO term]
- Rhabdomyoma [HPO term]
- Scoliosis [HPO term]
- Short 4th metacarpal [HPO term]
- Short distal phalanx of the thumb [HPO term]
- Short ribs [HPO term]
- Skin tags [HPO term]
- Sloping shoulders [HPO term]
- Spina bifida [HPO term]
- Sprengel anomaly [HPO term]
- Strabismus [HPO term]
- Supernumerary ribs [HPO term]
- Variable expressivity [HPO term]
- Vertebral fusion [HPO term]
- Vertebral wedging [HPO term]
- Wide nasal bridge [HPO term]
ORDO concept(s)
- Gorlin syndrome [ORDO Disease]
Semantic type(s)
- Neoplastic Process [UMLS semantic type]
UMLS correspondences (same concept)
- Basal cell naevus syndrome [MedDRA Preferred Term]
- Basal cell nevus syndrome [MedDRA LLT]
- Gorlin syndrome [ORDO Disease]
- Gorlin syndrome (disorder) [SNOMED CT concept]
- Gorlin-Goltz syndrome [MedDRA LLT]
- Nevoid Basal Cell Carcinoma Syndrome [NCIt concept]
- Nevoid basal-cell carcinoma syndrome [MedDRA LLT]
- basal cell nevus syndrome [MeSH Descriptor]
- basal cell nevus syndrome [MeSH concept]
- gorlin syndrome [SNOMED Notion]
- nevoid basal cell carcinoma syndrome [DO Concept]
- nevoid basal cell carcinoma syndrome [Disease (Nov.)]
Validated automatic mappings to BTNT
- nevoid basal cell carcinoma syndrome [Disease (Nov.)]

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