Gorlin Syndrome

Description

Gorlin syndrome (GS) is a genodermatosis characterized by multiple early-onset basal cell carcinoma (BCC), odontogenic keratocysts and skeletal abnormalities.

Clinical Features

Top most frequent phenotypes and symptoms related to Gorlin Syndrome

  • Intellectual disability
  • Scoliosis
  • Hypertelorism
  • Neoplasm
  • Strabismus
  • Cataract
  • Cryptorchidism
  • Epicanthus
  • Brachydactyly
  • Wide nasal bridge

And another 19 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Based on the latest data available GORLIN SYNDROME have a estimated prevalence of 1.1 per 100k in Europe.
No data available about the known clinical features onset.

Alternative names

Gorlin Syndrome Is also known as nbccs, basal cell nevus syndrome, nevoid basal cell carcinoma syndrome, gorlin-goltz syndrome.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.


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Gorlin Syndrome Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Hereditary Brain, CNS, PNS Cancer Panel.

By Baylor Miraca Genetics Laboratories (United States).

TP53, VHL, SUFU, PALB2, ALK, APC, MEN1, MLH1, MRE11, MSH2, MSH6, NBN, NF2, ATM, PMS2, PHOX2B, PTCH1
Specificity
12 %
Genes
67 %
Hereditary Brain, CNS, PNS Cancer Panel.

By Baylor Miraca Genetics Laboratories (United States).

TP53, VHL, SUFU, PALB2, ALK, APC, MEN1, MLH1, MRE11, MSH2, MSH6, NBN, NF2, ATM, PMS2, PHOX2B, PTCH1
Specificity
12 %
Genes
67 %
Comprehensive Hereditary Cancer Panel.

By Baylor Miraca Genetics Laboratories (United States).

RUNX1, SDHA, SDHB, SDHC, SDHD, BMPR1A, BRCA1, BRCA2, STK11, EPCAM, TP53, VHL, WT1, CBL, SUFU, CDC73, CDH1, CDK4, CDKN1C, CDKN2A , (...)

View the complete list with 39 more genes
Specificity
4 %
Genes
67 %
VistaSeq Brain/CNS/PNS Cancer Panel.

By Molecular Diagnostic Laboratory University of Alberta (Canada).

SMARCB1, TP53, VHL, SUFU, ALK, APC, MEN1, MLH1, MSH2, MSH6, NBN, NF1, NF2, PMS2, PHOX2B, PTCH1, RB1
Specificity
12 %
Genes
67 %
Hereditary Cancer Panel, Sequencing and Deletion/Duplication.

By ARUP Laboratories, Molecular Genetics and Genomics (United States).

SDHB, SDHC, SDHD, BMPR1A, BRCA1, BRCA2, SMARCB1, STK11, EPCAM, TP53, TSC1, TSC2, VHL, SUFU, CDH1, CDK4, CDKN1B, CDKN2A, BRIP1, SDHAF2 , (...)

View the complete list with 26 more genes
Specificity
3 %
Genes
34 %
Hereditary Cancer Panel - Neuro17.

By Human Genetics Laboratory, Munroe-Meyer Institute University of Nebraska Medical Center (United States).

TP53, TSC1, TSC2, VHL, SUFU, ALK, APC, MEN1, MLH1, MSH2, MSH6, NBN, NF1, NF2, PMS2, PHOX2B, PTCH1
Specificity
12 %
Genes
67 %
Hereditary Cancer Panel- Comprehensive63.

By Human Genetics Laboratory, Munroe-Meyer Institute University of Nebraska Medical Center (United States).

BLM, SDHA, SDHB, SDHC, SDHD, BMPR1A, BRCA1, BRCA2, SMARCA4, STK11, EPCAM, TP53, TSC1, TSC2, VHL, XRCC2, SUFU, CDC73, DICER1, CDH1 , (...)

View the complete list with 42 more genes
Specificity
4 %
Genes
67 %
BrainTumorNext.

By Ambry Genetics (United States).

SMARCA4, SMARCB1, SMARCE1, TP53, TSC1, TSC2, VHL, SUFU, DICER1, POT1, CDKN1B, CDKN2A, AIP, ALK, APC, MEN1, MLH1, MSH2, MSH6, NBN , (...)

View the complete list with 7 more genes
Specificity
8 %
Genes
67 %

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Sources and references

You can check the following sources for additional information.

ORPHANET Genetic Syndrome Finder

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