Gorlin Syndrome Alliance
Cycle 3
Gorlin syndrome, also known as nevoid basal cell carcinoma syndrome, basal cell carcinoma nevus syndrome, Gorlin-Goltz syndrome, or basal cell nevus syndrome, is a rare genetic disorder. Gorlin syndrome can affect every organ system of the human body. People with Gorlin syndrome are at increased risk of developing basal cell carcinoma (BCC) skin cancers and non-cancerous tumors. Basal cell carcinomas are the most common manifestation of Gorlin syndrome.
Last updated 04/30/2025
Clinical
Disease Class
Ciliopathies
Developmental anomalies during embryogenesis
Genetic diseases
Gynecological and obstetric diseases
Neoplastic diseases
Odontological diseases
Ophthalmic diseases
Skin diseases
Systemic and rheumatological diseases
Systemic and rheumatological diseases of childhood
Body Systems
Cardiovascular / Circulatory
Integumentary / Exocrine
Muscular / Skeletal
Nervous / Sensory
Reproductive
Organs
Bones
Brain
Eyes
Heart
Mouth / teeth
Ovaries
Skin
Known Genetic Link
Yes, there are both genes that cause the condition and genetic factors that contribute
causative_genes
PTCH1
PTCH2
SUFU
contributory_genes
None specified / unknown
Type of Inheritance
Autosomal dominant
De novo
Newborn Screening
No
Disease Mechanism(s)
Abnormal cell proliferation
Cilia dysfunction
Pathogenic mutation
mTOR pathways dysregulation
Age of Onset
Adolescence (12-17)
Adulthood (age 18-64)
Early childhood (age 1+-5)
Infancy (age 0-1)
Middle childhood (6-11)
Prebirth
Average Age at Diagnosis
Middle childhood (6-11)
Life Expectancy
Adulthood (age 18-64)
Elderly (age 65+)
Affected Sex(es)
Female
Intersex
Male
National Prevalence
10000+
Global Prevalence
10000+
National Incidence
Less than 10
Global Incidence
Less than 10
Symptoms / Phenotypes
abnormal brain features
abnormal dura mater morphology
abnormal eye morphology
abnormal oral morphology
abnormal skeletal morphology
abnormal skin morphology
abnormality of the dentition
abnormality of the voice
anosmia
basal cell carcinoma
cancer, brain tumor
cardiac fibroma
craniofacial abnormalities
macrocephaly
male hypogonadism
mass / neoplasm
meningioma
mesenteric cyst
normal pressure hydrocephalus
ovarian fibroma
polydactyly
spina bifida occulta
syndactyly
tall stature
vision problems
Biomarkers
None
Existing Therapies
FDA-Approved for Symptom Relief
· 5-fluorouracil, imiquimod, cemiplimab-rwlc, sonidegib, vismodegib
Off-Label Drug Use
Organizational & Research
Cell Lines
None
Cell Lines, share
N/A
Disease Model
None
Disease Model, share
N/A
Clinical Trial Role
Focus group
Meeting with regulators
Recruitment and outreach, patients
Recruitment and outreach, trial sites/physicians
Study material design, review (not protocol)
Biobank, Institution
None
Center of Excellence, Institution
None
Registry
Yes, we have a registry that we created
Data Collected, Registry
Genetic data
Imaging data
Longitudinal natural history data
Medication usage
Patient-reported data
Data Entered by, Registry
Other
Platform, Registry
IAMRARE
Natural History Study
Yes, we have a natural history study that we created
Data Collected, Natural History Study
Clinical endpoints (outcomes)
Genetic data
Imaging data
Medication usage
Patient-reported outcomes
Prospective data
Retrospective data
Platform, Natural History Study
IAMRARE
FDA Patient Listening Session
Yes
FDA Patient-Focused Drug Development (PFDD) Program
Yes
ICD Codes
We use an ICD-10 code capturing the family of diseases to which our disease belongs
Yes, we have an ICD-11 code specific to our exact disease
Diagnostic Guidelines
Yes, we have guidance available on our website
Yes, we have published formal guidelines in a peer-reviewed journal
Science Advisory Board Policies
No policies
Research Network Policies
Has CRN but no policies
Research Roadmap
We don't have a Research Roadmap
International Chapters
None
International Partners
None