Basal Cell Nevus Syndrome 1 (BCNS1)

Alias:
Basal Cell Nevus Syndrome
Nevoid Basal Cell Carcinoma Syndrome
Gorlin Syndrome
Nbccs
Gorlin-Goltz Syndrome
Bcns
Multiple Basal Cell Nevi, Odontogenic Keratocysts, and Skeletal Anomalies
Bcns1
Nevoid Basal Cell Carcinoma Syndrome 1
Naevoid Basal Cell Carcinoma Syndrome
Nevoid Basal-Cell Carcinoma Syndrome
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Basal Cell Nevus Syndrome 1, also known as basal cell nevus syndrome, is related to basal cell carcinoma 1 and basal cell nevus syndrome 2. An important gene associated with Basal Cell Nevus Syndrome 1 is PTCH1 (Patched 1), and among its related pathways/superpathways are Regulation of activated PAK-2p34 by proteasome mediated degradation and ERK Signaling. The drugs Verteporfin and Veratrum Alkaloids have been mentioned in the context of this disorder. Affiliated tissues include skin and heart, and related phenotypes are cerebral calcification and melanocytic nevus
Related ID:
MESH:D001478
ICD11:1012745138

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
--
Unknown
<1/1000000
64
1080
160

Medical Symptom

#
Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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Gene
Function
Score
Mutations
No data available

Related Drugs

Name
CAS Number
Status
Phase
No data available

Disease Model

Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

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PMID
Journal
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IF
No Data Found!
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