É uma doença genética rara que passa de pais para filhos. Para que ela se manifeste, basta que a pessoa herde uma única cópia do gene alterado (transmissão dominante). Ela é caracterizada pela presença de múltiplos crescimentos anormais de tecido, que geralmente são benignos (não cancerosos). Os sintomas incluem o surgimento de múltiplos carcinomas basocelulares (um tipo comum de câncer de pele) em idade precoce, vários cistos nos ossos da mandíbula e outras alterações no esqueleto.
Introdução
O que você precisa saber de cara
É uma doença genética rara que passa de pais para filhos. Para que ela se manifeste, basta que a pessoa herde uma única cópia do gene alterado (transmissão dominante). Ela é caracterizada pela presença de múltiplos crescimentos anormais de tecido, que geralmente são benignos (não cancerosos). Os sintomas incluem o surgimento de múltiplos carcinomas basocelulares (um tipo comum de câncer de pele) em idade precoce, vários cistos nos ossos da mandíbula e outras alterações no esqueleto.
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
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Entender a doença
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 28 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 75 características clínicas mais associadas, ordenadas por frequência.
Linha do tempo da pesquisa
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Genética e causas
O que está alterado no DNA e como passa nas famílias
Genes associados
3 genes identificados com associação a esta condição. Padrão de herança: Autosomal dominant.
Plays a role in the control of cellular growth (PubMed:18285427). May have a role in epidermal development. May act as a receptor for Sonic hedgehog (SHH)
Membrane
Medulloblastoma
Malignant, invasive embryonal tumor of the cerebellum with a preferential manifestation in children.
Negative regulator in the hedgehog/smoothened signaling pathway (PubMed:10559945, PubMed:10564661, PubMed:10806483, PubMed:12068298, PubMed:12975309, PubMed:15367681, PubMed:22365972, PubMed:24217340, PubMed:24311597, PubMed:27234298, PubMed:28965847). Down-regulates GLI1-mediated transactivation of target genes (PubMed:15367681, PubMed:24217340, PubMed:24311597). Down-regulates GLI2-mediated transactivation of target genes (PubMed:24217340, PubMed:24311597). Part of a corepressor complex that a
CytoplasmNucleus
Medulloblastoma
Malignant, invasive embryonal tumor of the cerebellum with a preferential manifestation in children.
Acts as a receptor for sonic hedgehog (SHH), indian hedgehog (IHH) and desert hedgehog (DHH). Associates with the smoothened protein (SMO) to transduce the hedgehog's proteins signal. Seems to have a tumor suppressor function, as inactivation of this protein is probably a necessary, if not sufficient step for tumorigenesis
Cell membrane
Basal cell nevus syndrome 1
A form of basal cell nevus syndrome, a disease characterized by nevoid basal cell carcinomas and developmental abnormalities such as rib and craniofacial alterations, polydactyly, syndactyly, and spina bifida. In addition, the patients suffer from a multitude of tumors like fibromas of the ovaries and heart, cysts of the skin, jaws and mesentery, as well as medulloblastomas and meningiomas. BCNS1 inheritance is autosomal dominant.
Variantes genéticas (ClinVar)
7,277 variantes patogênicas registradas no ClinVar.
Classificação de variantes (ClinVar)
Distribuição de 6,834 variantes classificadas pelo ClinVar.
Vias biológicas (Reactome)
8 vias biológicas associadas aos genes desta condição.
Diagnóstico
Os sinais que médicos procuram e os exames que confirmam
Tratamento e manejo
Remédios, cuidados de apoio e o que precisa acompanhar
Onde tratar no SUS
Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)
🇧🇷 Atendimento SUS — Síndrome Gorlin
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Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.
Pesquisa ativa
Ensaios clínicos abertos e novidades científicas recentes
Ensaios em destaque
🟢 Recrutando agora
2 pesquisas recrutando participantes. Converse com seu médico sobre a possibilidade de participar.
Outros ensaios clínicos
43 ensaios clínicos encontrados, 3 ativos.
Publicações mais relevantes
A Meier-Gorlin syndrome mutation impairs the loading of the MCM2-7 complex during DNA replication initiation.
Chromatin loading of the hexameric replicative helicase MCM2-7 complex requires coordinated interactions with the origin recognition complex (ORC), CDC6, and CDT1. MCM2-7 not bound to DNA forms a single hexamer (SH) with an open DNA entry gate between MCM2 and MCM5. Two MCM2-7 SHs can be loaded sequentially to form the double hexamer (DH) that encircles the DNA duplex. Activated MCM2-7 then unwinds DNA and initiates DNA replication. Our cryoelectron microscopy analyses show that a fraction of human MCM2-7 without DNA exists as DH. Unexpectedly, we find that the MCM3 winged helix domain (WHD) docks on MCM2 in both DNA-free DH and SH, creating a safety latch across the DNA entry gate to block DNA entry into the central channel. The safety latch can be opened by ORC-CDC6 binding. Perturbing this latch by structure-based or disease-related mutations of MCM3 causes replication defects and DNA damage checkpoint activation. Shortening the MCM3 linker between the helicase domain and WHD alleviates the cell cycle defects of the latch-strengthening mutation. Our findings uncover a regulated step in MCM2-7 loading with implications for human diseases.
The role of a multidisciplinary approach in non-melanoma skin cancer management.
A multidisciplinary team (MDT) is fundamental for properly managing non-melanoma skin cancer (NMSC). Surgery is the first treatment choice for early-stage disease; however, in cases with a high risk of recurrence or when demolitive approaches would not achieve safe margins, radiotherapy (RT) or an MDT approach is required. We retrospectively revised the population evaluated at our weekly MDT meeting, and all patients were discussed. A case series of 130 patients visited from July 2021 to March 2024 was collected. In-person visits were performed. The male/female ratio was 69.5/31.5%. Elderly patients prevailed: the mean age was 79 years (range 29-102 years). Patients affected by Gorlin syndrome were 7, and solid transplant recipients were 4. Among patients, 66 were diagnosed with cutaneous squamous cell carcinoma (SCC) (58%), 52 had basal cell carcinoma (BCC) (40%), and 12 had both SCC and BCC (9.2%). Among patients with SCC, 24 received primary surgery (36.4%), 11 received RT (16.6%), and 25 were candidates for treatment with cemiplimab (37.9%). Six patients (9.1%) were indicated to undertake a dermatological follow-up associated with best supportive care for comorbidities and performance status. Oculo-auriculo-vertebral spectrum (OAVS) is a congenital disorder of craniofacial morphogenesis, first described by ophthalmologist Maurice Goldenhar in 1952, characterized by an association of ophthalmic, auricular, and facial features. Gorlin et al. subsequently added vertebral anomalies to the classification in 1963. The condition is also known as Goldenhar syndrome, facio-auriculo-vertebral syndrome, or Goldenhar-Gorlin syndrome. The term OAVS, originating from "oculoauriculovertebral dysplasia" as described by Cohen et al in 1989, reflects the phenotypic continuum and significant overlap among malformations of structures derived from the first and second branchial arches. OAVS affects the eyes, mouth (lips, tongue, and palate), ears, maxilla, and mandible. Multisystem involvement frequently includes the central nervous system, heart, kidneys, and skeletal system, distinguishing it from isolated hemifacial microsomia. Recent advances in genetics have identified multiple causative genes, transforming our understanding of this clinically heterogeneous condition. Typical phenotypes include microtia, facial asymmetry, and epibulbar dermoid or lipodermoid. The minimum diagnostic criteria proposed by Tasse et al include either isolated microtia or preauricular tags associated with hemifacial microsomia. The management of patients with OAVS requires an interprofessional approach due to the wide variety of abnormalities and varying severity of presentations. This review highlights current understanding of etiology, pathogenesis, clinical presentations, and evidence-based management options, with particular emphasis on ocular features.
Dual PI3K/AKT and CDK4/6 inhibition reveals selective sensitivity in an SHH medulloblastoma stem cell model.
Medulloblastoma (MB) is a brain tumor for which current treatments cause serious side effects and are not curative for all patients, highlighting the need for more effective and brain-protecting therapies. Recently, we combined phosphoinositide 3-kinase (PI3K) inhibitor (BYL719), fibroblast growth factor receptor (FGFR) inhibitor (JNJ-42756493) and cyclin-dependent kinase (CDK)4/6 inhibitor (PD-0332991) in MB cell lines, and discovered synergistic effects. In the current study, we investigate the most efficient therapies in a normal/tumorigenic neural stem cell model. A sonic hedgehog (SHH)-MB model, including a Gorlin syndrome patient neuroepithelial stem cell line (NES) and its tumor derivative (tNES), was used to evaluate single and combined treatments of PI3K, AKT, FGFR, and CDK4/6 inhibitors (BYL719, AZD5363, JNJ-42756493, and PD-0332991, respectively). Effects on viability, cell confluence and apoptosis were tested on NES and tNES cells cultured as 2D monolayers and 3D spheroids. We found that 2D tNES cells were generally more sensitive to the inhibitory effects of both single and combination treatments compared to 2D NES cells. In the 3D setting, all single drugs were more effective against tNES than NES, except for JNJ-42756493, which showed the opposite trend. Drug combinations in 3D cultures generally resulted in synergistic or additive effects on cell viability in NES and tNES. This study illustrates that single and combined administrations of PI3K, FGFR, CDK4/6, and AKT inhibitors in a NES/tNES model have dose-dependent and additive/synergistic anti-MB activity impacting tumor growth. Their effects on tNES cells were generally more pronounced than on NES; however, the difference in proliferative capacity between the cells should be considered.
Identification of a PORCN c.1093C>T (p.Arg365Trp) Variant in a 12-Year-Old Girl With Goltz-Gorlin Syndrome.
We report the first female case of Goltz-Gorlin syndrome with the PORCN c.1093C>T (p.Arg365Trp) variant, previously described only in a male with Klinefelter syndrome. This case expands the known phenotypic and genotypic spectrum of FDH.
[Research advance on the clinical phenotypes and molecular genetic mechanisms of Microcephalic primordial dwarfism].
Primordial dwarfism (PD) refers to a group of monogenic genetic disorders characterized by intrauterine growth restriction (IUGR) and severe, persistent postnatal growth retardation. These diseases have been associated with variants of multiple genes whose products are mainly involved in critical cellular biological processes such as maintenance of genomic stability, DNA damage repair, mRNA splicing regulation, and centrosome function. Variants of such genes can directly impair cell proliferation and developmental potential. With the widespread application of molecular genetic technologies such as high-throughput sequencing, significant progress has been made in the research of PD. This article focuses on the major subtypes of PD, including Seckel syndrome, Microcephalic osteodysplastic primordial dwarfism (MOPD) types I/III, MOPD type II, and Meier-Gorlin syndrome. It has systematically summarized the advances in their clinical phenotypic characteristics, pathogenic genes, and molecular mechanisms, with an aim to deepen the understanding of the essence of growth disorders associated with PD.
Publicações recentes
Bi-allelic WDHD1 variants cause microcephalic primordial dwarfism.
Challenging interpretation of low-level PTCH1 mosaicism in patients with clinically diagnosed Gorlin syndrome: a case series and review of the literature.
The role of a multidisciplinary approach in non-melanoma skin cancer management.
Oculo-Auriculo-Vertebral Spectrum (Goldenhar Syndrome).
Dual PI3K/AKT and CDK4/6 inhibition reveals selective sensitivity in an SHH medulloblastoma stem cell model.
📚 EuropePMC408 artigos no totalmostrando 198
The role of a multidisciplinary approach in non-melanoma skin cancer management.
Dermatology reportsDual PI3K/AKT and CDK4/6 inhibition reveals selective sensitivity in an SHH medulloblastoma stem cell model.
Molecular oncologyA Meier-Gorlin syndrome mutation impairs the loading of the MCM2-7 complex during DNA replication initiation.
Proceedings of the National Academy of Sciences of the United States of AmericaIdentification of a PORCN c.1093C>T (p.Arg365Trp) Variant in a 12-Year-Old Girl With Goltz-Gorlin Syndrome.
Clinical case reports[Research advance on the clinical phenotypes and molecular genetic mechanisms of Microcephalic primordial dwarfism].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical geneticsMolecular diagnosis of rare biallelic CDC45 gene variants causing Meier-Gorlin syndrome-7 using whole exome sequencing.
Human genomicsMeier-Gorlin syndrome due to a recurrent DONSON variant in a Turkish family: first report of thumb aplasia and long-term growth data.
Journal of pediatric endocrinology & metabolism : JPEMAlphaFold3 predictions of novel GLI-SUFU interfaces identify binding-defective SUFU missense variants from medulloblastoma and Gorlin Syndrome patients.
bioRxiv : the preprint server for biologyResection of intracardiac tumors in infants.
Acta chirurgica BelgicaA Presentation of Fungating Nevoid Basal Cell Carcinoma Syndrome.
CureusMolecular impacts of Meier-Gorlin syndrome mutations on human origin licensing.
The Journal of biological chemistryClinical practice guidelines for the management of basal cell carcinoma in Gorlin syndrome.
Journal of the American Academy of DermatologyBasaloid Proliferations in Palmar Lesions of Gorlin Syndrome: A Distinct Entity or Precursor Lesion?
The American Journal of dermatopathologyClinical and Molecular Study of a Gorlin Syndrome Type 1 Case.
Advances in experimental medicine and biologyClinical challenges of cancer predisposition syndromes with pediatric central nervous system tumors: a single-center study.
Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgeryDoes Basal Cell Carcinoma Arise from a Precursor Lesion?
The Journal of investigative dermatologyA case of basal cell nevus syndrome with a SUFU mutation.
Dermatology online journalSynchronous Cardiac Fibroma and Medulloblastoma in Gorlin Syndrome: A Paradigmatic Case and Narrative Review.
Children (Basel, Switzerland)Anesthetic management in a child with Meier-Gorlin syndrome: a case report.
BMC anesthesiologyClinical and genetic findings in 103 individuals in Norway with basal cell naevus syndrome.
The British journal of dermatologyMulticenter Retrospective Case Series on the Real-World Experience With Sonidegib for the Management of Gorlin Syndrome.
The Australasian journal of dermatologyLow-dose oral minoxidil for the management of vismodegib-induced alopecia.
JAAD case reportsA camouflaged carcinoma and it's surgical encounter - A case report.
International journal of surgery case reportsUnexpected molecular mechanism of Orc6-based Meier-Gorlin syndrome: insights from a humanized Drosophila model.
GeneticsCongenital Absence of Bilateral Patella in an Active Military Personnel Case Report.
Journal of orthopaedic case reportsA Novel PTCH1 Non-Canonical Splice Region Variant Associated with Gorlin Syndrome: A Case Report.
Molecular syndromologyClinical Features and PTCH1 Expression in Gorlin-Goltz Syndrome: A Case Report.
Reports (MDPI)Gorlin-Goltz syndrome: Multidisciplinary approach for early diagnosis of rare disease for better patient outcome.
Radiology case reportsSkin Signals: Exploring the Intersection of Cancer Predisposition Syndromes and Dermatological Manifestations.
International journal of molecular sciencesVitiligo-associated protection against basal cell carcinoma: Clinical observations.
JAAD case reportsMutational analysis of the Drosophila CMG helicase reveals relationships among chromosome integrity and the maintenance of spindle and centrosome structure.
GeneticsSubtypes of basal cell carcinomas in adults with basal cell nevus syndrome: A retrospective review.
Journal of the American Academy of DermatologyEight-Year Experience of Hedgehog Pathway Inhibitors at Three Tertiary Referral Centres in the Australian State of Victoria.
The Australasian journal of dermatologyAt the mercy of my condition: a patient perspective on living with Gorlin syndrome.
Clinical and experimental dermatologyDiagnostic Yield of Exome Sequencing for Pregnancies With and Without Fetal Anomalies and for Stillbirth.
Prenatal diagnosisA Case of Sustained Ventricular Tachycardia Secondary to a Cardiac Fibroma in a Patient With Gorlin Syndrome.
CureusWorth the Effort: Lessons for Discovery and Care From an Unusual Case of Gorlin Syndrome.
American journal of medical genetics. Part ANonsyndromic epidermal differentiation disorders: a new classification toward pathogenesis-based therapy.
The British journal of dermatologySyndromic epidermal differentiation disorders: a new classification toward pathogenesis-based therapy.
The British journal of dermatologyEffects of CDC45 mutations on DNA replication and genome stability.
Biochimica et biophysica acta. Molecular cell researchPalmoplantar epidermal differentiation disorders: a new classification toward pathogenesis-based therapy.
The British journal of dermatologyA 12-Year-Old Female With Facial Bumps, Body Pits, and Coiled Scalp Hair.
Pediatric dermatologyDetermining the Relationship Between Cutaneous Keratocysts and Basal Cell Nevus Syndrome.
Journal of cutaneous pathologyEarly onset basal cell carcinoma: Consider Bazex-Dupré-Christol syndrome.
European journal of medical geneticsA Clinical Trial to Determine the Impact of Tumor Size, Histological Subtype, and Vitamin D Status on the Therapeutic Response of Basal Cell Carcinoma to Photodynamic Therapy.
medRxiv : the preprint server for health sciencesPatidegib: a novel, promising treatment for basal cell carcinoma lesions in patients with Gorlin syndrome.
The British journal of dermatologyNevoid basal cell carcinoma syndrome (Gorlin syndrome): a case report.
Journal of medical case reportsA novel homozygous intronic variant in CDT1 that alters splicing causes Meier-Gorlin syndrome, and a review of published mutations and growth hormone treatments.
Orphanet journal of rare diseasesSurgical management of ovarian fibromas in young patients with Gorlin syndrome: a case series and review of the literature.
F&S reportsClinicopathological and molecular insights into odontogenic tumors associated with syndromes: A comprehensive review.
World journal of experimental medicineMetastatic basal cell carcinomas in Gorlin syndrome-A case series and literature review.
The Australasian journal of dermatologyClinical Challenges in Diagnosing Primordial Dwarfism: Insights from a MOPD II Case Study.
Medicina (Kaunas, Lithuania)Analysis of Germline and Somatic Mutation in Patients With Developmental Odontogenic Cysts Using Targeted Gene Panel.
Journal of oral pathology & medicine : official publication of the International Association of Oral Pathologists and the American Academy of Oral PathologyTopical application of the Hedgehog inhibitor patidegib in patients with Gorlin syndrome: a phase II trial.
The British journal of dermatologyUse of Anti-PD1 Blockade After Hedgehog Inhibitors or as First-Line Therapy for Gorlin Syndrome.
JAMA dermatologyRe-evaluation of the concept of basaloid follicular hamartoma associated with naevoid basal cell carcinoma syndrome: a morphological, immunohistochemical and molecular study.
PathologyExploration of the causative gene in a case of multiple nevoid basal cell carcinoma: A case report.
Rare tumorsBrain morphological analysis in mice with hyperactivation of the hedgehog signaling pathway.
Frontiers in neuroscienceClinicopathological and molecular spectrum of patients with germline SUFU mutations: A case series.
Journal of cutaneous pathologyPhenotypes, Genetics, and Estimated Prevalence of Focal Dermal Hypoplasia (Goltz Syndrome): A Single-Center Report.
Pediatric dermatologyProteome-scale characterisation of motif-based interactome rewiring by disease mutations.
Molecular systems biologyIntrauterine growth in chromatinopathies: A long road for better understanding and for improving clinical management.
Birth defects researchDeveloping expert consensus for the use of hedgehog inhibitors in basal cell nevus syndrome.
Archives of dermatological researchOral smoothened inhibitors for Gorlin syndrome: A clinical review.
Journal of the American Academy of DermatologyMeier-Gorlin syndrome type 7: a rare cause of primordial dwarfism: two new cases and literature review.
Clinical dysmorphologyGorlin Syndrome-Associated Basal Cell Carcinomas Treated with Vismodegib or Sonidegib: A Retrospective Study.
CancersGermline PTCH1: c.361_362insAlu alteration identified by comprehensive exome and RNA sequencing in a patient with Gorlin syndrome.
American journal of medical genetics. Part AFurther Expanding the Mutational Spectrum of Gorlin Syndrome in Three Unrelated Families.
Molecular syndromologyA Long-Term Follow-Up of a Patient with a Novel PORCN Variant and Additional Clinical Features.
Molecular syndromologySkin cancer-associated genodermatoses in skin of color patients: a review.
Archives of dermatological researchFunctional studies in yeast confirm the pathogenicity of a new GINS3 Meier-Gorlin syndrome variant.
Clinical geneticsClinical vs. molecular diagnosis of Gorlin syndrome: relevance of diagnostic criteria depends on the age of the patients.
Clinical and experimental dermatologyAssessment of Mammalian Target of Rapamycin Pathway Activation in Basal Cell Carcinoma as a New Therapeutic Approach.
The American Journal of dermatopathologyPERIOCULAR HIGH RISK BCCS AFTER ADDITIONAL/PARALLEL INTAKE OF TORASEMIDE, MOXONIDINE AND MIRABEGRON: IMPORTANT LINKS TO SKIN CANCER RELATED (PHOTO-) NITROSOGENESIS IN THE CONTEXT OF PHARMACO-ONCOGENESIS.
Georgian medical newsA second hotspot for pathogenic exon-skipping variants in CDC45.
European journal of human genetics : EJHGGorlin Syndrome: A Comprehensive Evaluation of Skin Findings.
Turkish archives of pediatricsPostmortem 7T MRI in Goltz-Gorlin Syndrome: Insights into fetal anomalies beyond conventional imaging techniques.
European journal of radiologyDigital pathology-based artificial intelligence models for differential diagnosis and prognosis of sporadic odontogenic keratocysts.
International journal of oral sciencePediatric odontogenic keratocyst and early diagnosis of Gorlin syndrome: Clinicopathological aids.
The Saudi dental journalDentofacial manifestations of a Paediatric patient with Goltz-Gorlin Syndrome.
BMJ case reportsGorlin-Like Phenotype in a Young Girl With a De Novo PTCH2 Variant Mutation of Uncertain Significance.
The American Journal of dermatopathologyDefining the progeria phenome.
AgingMedulloblastoma and other neoplasms in patients with heterozygous germline SUFU variants: A scoping review.
American journal of medical genetics. Part AThe Origin Recognition Complex: From Origin Selection to Replication Licensing in Yeast and Humans.
BiologyGenetics of Cardiac Tumours: A Narrative Review.
Heart, lung & circulationDONSON: Slding in 2 the limelight.
DNA repairAcquisition of Drug Resistance in Basal Cell Nevus Syndrome Tumors through Basal to Squamous Cell Carcinoma Transition.
The Journal of investigative dermatologyHedgehog Inhibitors Beyond Clinical Complete Response in Basal Cell Carcinoma: Should I Stop or Should I Go?
The oncologistPhotodynamic Therapy in Treating a Subset of Basal Cell Carcinoma: Strengths, Shortcomings, Comparisons with Surgical Modalities, and Potential Role as Adjunctive Therapy.
American journal of clinical dermatologyExploring the Changing Diagnostic Criteria of Gorlin-Goltz Syndrome: A Case Report.
Oncology (Williston Park, N.Y.)Loss-of-function of zebrafish cdt1 causes retarded body growth and underdeveloped gonads resembling human Meier-Gorlin syndrome.
Journal of Zhejiang University. Science. BAn Institutional Experience of a Tertiary Referral Center in Surgically Managing Patients With Gorlin Syndrome.
Dermatologic surgery : official publication for American Society for Dermatologic Surgery [et al.]Bilateral ovarian fibromas as the sole manifestation of Gorlin syndrome in a 22-year-old woman: a case report and literature review.
Diagnostic pathologySustained Suppression of Gorlin Syndrome-Associated Basal Cell Carcinomas with Vismodegib or Sonidegib: A Case Series.
Current oncology (Toronto, Ont.)Case Report: Papillary thyroid carcinoma in Goltz-Gorlin syndrome.
Frontiers in endocrinologyTolerance of sonidegib after intolerance of vismodegib-Experience in two patients with nevoid basal cell carcinoma syndrome (Gorlin syndrome).
Skin health and diseaseDONSON is required for CMG helicase assembly in the mammalian cell cycle.
EMBO reportsA novel de novo canonical splice site mutation in the PTCH1 gene in a male patient with mild psychomotor retardation and autistic traits: a case report.
Human genome variation[Genetic analysis of a child with Meier-Gorlin syndrome due to a variant of ORC6 gene].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical geneticsDONSON facilitates Cdc45 and GINS chromatin association and is essential for DNA replication initiation.
Nucleic acids researchHedgehog-Related Mutation Causes Bone Malformations with or without Hereditary Gene Mutations.
International journal of molecular sciencesIncidence and Prevalence of 73 Different Genodermatoses: A Nationwide Study in Sweden.
Acta dermato-venereologicaEuropean consensus-based interdisciplinary guideline for diagnosis and treatment of basal cell carcinoma-update 2023.
European journal of cancer (Oxford, England : 1990)Gorlin Syndrome and Cowden Syndrome.
The Keio journal of medicineWhole-Exome Sequencing Identified Two Novel Pathogenic Mutations in the PTCH1 Gene in BCNS.
Current issues in molecular biologyBrain and/or Spinal Cord Tumors Accompanied with Other Diseases or Syndromes.
Advances in experimental medicine and biologyIsolated frontosphenoidal craniosynostosis: An argument for genetic testing.
American journal of medical genetics. Part ADe novo MCM6 variants in neurodevelopmental disorders: a recognizable phenotype related to zinc binding residues.
Human geneticsFine Wine or Stale Bread: The Aging Emergency Physician.
Annals of emergency medicineA Novel Method to Reconstruct the Upper and Lower Jaws Using 3D-Custom-Made Titanium Implants.
The Journal of craniofacial surgerySurveillance of a large cardiac fibroma in a patient with Gorlin syndrome.
BMJ case reportsAn Easily Missed But Life-Threatening Diagnosis: A Case Report of Gorlin Syndrome.
The American journal of case reportsUnderstanding Nevoid Basal Cell Carcinoma Syndrome (Gorlin Syndrome): A Case Report.
CureusSonidegib as a Locally Advanced Basal Cell Carcinoma Therapy in Real-life Clinical Setting: A National Multicentre Study.
Actas dermo-sifiliograficasThe expanding genetic and clinical landscape associated with Meier-Gorlin syndrome.
European journal of human genetics : EJHGPerspectives on the implications of carrying putative pathogenic variants in the medulloblastoma predisposition genes ELP1 and GPR161.
Familial cancerModeling human cancer predisposition syndromes using CRISPR/Cas9 in human cell line models.
Genes, chromosomes & cancerA case of Gorlin syndrome like phenotype with multiple infundibulocystic basal cell carcinomas in a moniliform blepharosis arrangement.
JAAD case reportsAssociation of Meier-Gorlin and microcephalic osteodysplastic primordial dwarfism type II clinical features in an individual with CDK5RAP2 primary microcephaly.
European journal of medical geneticsSUFU-associated Gorlin syndrome: Expanding the spectrum between classic nevoid basal cell carcinoma syndrome and multiple hereditary infundibulocystic basal cell carcinoma.
The Australasian journal of dermatologyCardiac Fibroma Presenting With Left Bundle Branch Block in an Adult With Gorlin Syndrome.
Texas Heart Institute journalImaging of Bifid Fourth Rib Presenting as a Chest Wall Mass in an Infant.
Texas Heart Institute journalA novel biallelic CRIPT variant in a patient with short stature, microcephaly, and distinctive facial features.
American journal of medical genetics. Part ACharacterization of intractable diarrhea resulting from vismodegib treatment for basal cell nevus syndrome.
JAAD case reportsDefining patient-centered research priorities in pediatric dermatology.
Pediatric dermatologyPediatric Cutaneous Oncology: Genodermatoses and Cancer Syndromes.
Dermatologic clinicsMolecular Mechanisms and Targeted Therapies of Advanced Basal Cell Carcinoma.
International journal of molecular sciencesA 10-year follow-up on the chemopreventive role of photodynamic therapy in a Gorlin syndrome patient.
The Australasian journal of dermatologyEarly-onset basal cell carcinoma; wide case series at a single tertiary center in middle Anatolia.
Northern clinics of IstanbulUtility of optical coherence tomography in basal cell naevus syndrome: A case report.
The Australasian journal of dermatologyGorlin Syndrome Associated With a Solitary Circumscribed Retinal Astrocytic Proliferation in a Pediatric Patient.
Ophthalmic surgery, lasers & imaging retinaPredictive factors of response to vismodegib: a French study of 61 patients with multiple or locally advanced basal cell carcinoma.
European journal of dermatology : EJDNervous system (NS) Tumors in Cancer Predisposition Syndromes.
Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeuticsClinical Impact of Cardiac Fibromas.
The American journal of cardiologyPhotodynamic therapy in pediatric age: Current applications and future trends.
Frontiers in pharmacologyMeier-Gorlin Syndrome: Clinical Misdiagnosis, Genetic Testing and Functional Analysis of ORC6 Mutations and the Development of a Prenatal Test.
International journal of molecular sciencesAdvances in Management and Therapeutics of Cutaneous Basal Cell Carcinoma.
CancersPTCH1 mutant small cell glioblastoma in a patient with Gorlin syndrome: A case report.
Oncology lettersPatient and caregiver perspectives on delayed childhood Gorlin syndrome diagnoses.
Pediatric dermatologyOvarian tumors and genetic predisposition.
Ceska gynekologieMultidisciplinary approach to Gorlin-Goltz syndrome: from diagnosis to surgical treatment of jawbones.
Maxillofacial plastic and reconstructive surgeryGorlin syndrome - Case report.
Journal of dental sciencesCase report of bilateral ovarian fibromas associated with de novo germline variants in PTCH1 and SMARCA4.
Molecular genetics & genomic medicineBasal Cell Carcinoma and Hedgehog Pathway Inhibitors: Focus on Immune Response.
Frontiers in medicineOvarian fibroma as a novel indicator for burden of basal cell carcinoma in women with Gorlin syndrome: a retrospective cross-sectional analysis of the Gorlin syndrome national patient registry.
International journal of women's dermatologyExperience with sonidegib in patients with advanced basal cell carcinoma: case reports.
Drugs in contextHypomorphic GINS3 variants alter DNA replication and cause Meier-Gorlin syndrome.
JCI insightPediatric synchronous multifocal and disseminated cerebrospinal classic medulloblastoma revealed by bilateral decreased visual acuity: a case report.
Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgeryAn investigation of metabolic disturbances, including urinary stone disease, hypothyroidism, and osteoporosis in basal cell nevus syndrome.
Pediatric dermatologyMultidisciplinary neurocutaneous syndrome clinics: a systematic review and institutional experience.
Neurosurgical focusUpdate on Hedgehog Pathway Inhibitor Therapy for Patients with Basal Cell Naevus Syndrome or High-frequency Basal Cell Carcinoma.
Acta dermato-venereologicaDevelopment of a targeted gene panel for the diagnosis of Gorlin syndrome.
International journal of oral and maxillofacial surgeryLeiomyomatosis in an Infant With a SUFU Splice Site Variant: Case Report.
Journal of pediatric hematology/oncologyGorlin Syndrome: Assessing Genotype-Phenotype Correlations and Analysis of Early Clinical Characteristics as Risk Factors for Disease Severity.
Journal of clinical oncology : official journal of the American Society of Clinical OncologyNevoid basal cell carcinoma syndrome with anophthalmia: a case report.
Hua xi kou qiang yi xue za zhi = Huaxi kouqiang yixue zazhi = West China journal of stomatologyUpdate from the 5th Edition of the World Health Organization Classification of Head and Neck Tumors: Familial Tumor Syndromes.
Head and neck pathologyMicrocephalic primordial dwarfism with predominant Meier-Gorlin phenotype, ichthyosis, and multiple joint deformities-Further expansion of DONSON Cell Cycle-opathy phenotypic spectrum.
American journal of medical genetics. Part AMeier-Gorlin syndrome with prenatal ultrasound findings and successful growth hormone therapy: Six years follow-up of a rare case.
Radiology case reportsTopical hedgehog inhibitors for basal cell carcinoma: how far away are we?
Expert opinion on pharmacotherapyHairy patches as early dermatological signs of Gorlin syndrome in a patient with a novel PTCH1 genetic variant.
The Journal of dermatologyGorlin Syndrome: Sequential Digital Dermoscopy of Palpebral Basal Cell Carcinomas in a Patient Treated with Vismodegib.
Dermatology practical & conceptualNovel uses of laser therapy in Goltz syndrome.
Dermatologic therapyNovel Compound Heterozygous Variants in the CDC6 Gene in a Russian Patient with Meier-Gorlin Syndrome.
The application of clinical geneticsMeningothelial Hamartoma of the Scalp in a Child With Gorlin Syndrome.
The American Journal of dermatopathologyCancer-Predisposition Genetic Analysis in Children with Brain Tumors Treated at a Single Institution in Japan.
OncologyAngioma-serpiginosum-like and hyperkeratotic lesions in a patient with Goltz syndrome.
Journal of cutaneous pathologyBilateral ovarian fibromas in a 15-year-old primary amenorrhea patient: a case report.
Radiology case reportsCalcified Ovarian Fibromas Complicated with Basal Cell Nevus Syndrome.
Gynecology and minimally invasive therapyDefining the Spectrum, Treatment and Outcome of Patients With Genetically Confirmed Gorlin Syndrome From the HIT-MED Cohort.
Frontiers in oncologyEvaluation of Hedgehog Pathway Inhibition on Nevoid Basal Cell Carcinoma Syndrome Fibroblasts and Basal Cell Carcinoma-Associated Fibroblasts: Are Vismodegib and Sonidegib Useful to Target Cancer-Prone Fibroblasts?
CancersPediatric basal cell carcinoma burden and management preferences in Gorlin syndrome: A survey study.
JAAD internationalHow to manage patients with Gorlin syndrome.
The British journal of dermatologyTumor Syndromes: Neurosurgical Evaluation and Management.
Neurosurgery clinics of North AmericaNeurosurgical Considerations of Neurocutaneous Syndromes.
Neurosurgery clinics of North AmericaNovel alterations in IFT172 and KIFAP3 may induce basal cell carcinoma.
Orphanet journal of rare diseasesNevoid basal cell carcinoma syndrome: a case report and literature review.
Ophthalmic geneticsBifid rib with fused vertebrae - A rare abnormality of the skeletal system: A case report.
International journal of surgery case reportsPresence of circulating tumor cells in a patient with multiple invasive basal cell carcinoma - a case report.
Acta chirurgiae plasticaeBiallelic GINS2 variant p.(Arg114Leu) causes Meier-Gorlin syndrome with craniosynostosis.
Journal of medical geneticsDental and orthodontic follow-up in nevoid basal cell carcinoma syndrome patient with odontogenic keratocystic tumors.
Journal of stomatology, oral and maxillofacial surgeryPTCH2 is not a strong candidate gene for gorlin syndrome predisposition.
Familial cancerCardiac fibroma with cardiac arrest: a rare clinical presentation of Gorlin syndrome in an 8-month-old infant.
BMJ case reportsThe molecular coupling between substrate recognition and ATP turnover in a AAA+ hexameric helicase loader.
eLifePrenatal diagnosis of Meier-Gorlin syndrome 7: a case presentation.
BMC pregnancy and childbirthGorlin syndrome: A rare case report.
Journal of oral and maxillofacial pathology : JOMFPMicrodeletion of 9q22.3: A patient with minimal deletion size associated with a severe phenotype.
American journal of medical genetics. Part ABasal cell nevus syndrome with excessive basal cell carcinomas.
Archives of craniofacial surgeryDifferences in RNA and microRNA Expression Between PTCH1- and SUFU-mutated Medulloblastoma.
Cancer genomics & proteomicsCurrent recommendations for cancer surveillance in Gorlin syndrome: a report from the SIOPE host genome working group (SIOPE HGWG).
Familial cancerMultiple basal cell carcinomas in Gorlin Syndrome treated with pulsed dye laser.
Journal of cosmetic and laser therapy : official publication of the European Society for Laser DermatologyCurrent update on the molecular genetics and management of hereditary ovarian cancers: a primer for radiologists.
Abdominal radiology (New York)A Novel Case of Gorlin Syndrome Mosaicism Involving an SMO Gene Mutation: Clinical, Histological and Molecular Analysis of Basaloid Tumours.
Acta dermato-venereologicaConcurrent basal cell carcinoma and tarsal epithelial cyst as a presenting sign of Gorlin syndrome.
Orbit (Amsterdam, Netherlands)MCM complex members MCM3 and MCM7 are associated with a phenotypic spectrum from Meier-Gorlin syndrome to lipodystrophy and adrenal insufficiency.
European journal of human genetics : EJHGA synonymous variant in a non-canonical exon of CDC45 disrupts splicing in two affected sibs with Meier-Gorlin syndrome with craniosynostosis.
European journal of medical geneticsDe Novo PORCN and ZIC2 Mutations in a Highly Consanguineous Family.
International journal of molecular sciencesCongenital Diseases of DNA Replication: Clinical Phenotypes and Molecular Mechanisms.
International journal of molecular sciencesAn incidental finding of intraocular choristoma in an enucleated microphthalmic globe: A histopathologic case report.
International journal of surgery case reportsAssociações
Organizações que acompanham esta doença — pra ter apoio e orientação
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Comunidades
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Referências e fontes
Bases de dados externas citadas neste artigo
Publicações científicas
Artigos indexados no PubMed ligados a esta doença no grafo RarasNet — título, periódico e PMID direto da fonte, sem intermediação de IA.
- A Meier-Gorlin syndrome mutation impairs the loading of the MCM2-7 complex during DNA replication initiation.Proceedings of the National Academy of Sciences of the United States of America· 2026· PMID 41719335mais citado
- The role of a multidisciplinary approach in non-melanoma skin cancer management.
- Dual PI3K/AKT and CDK4/6 inhibition reveals selective sensitivity in an SHH medulloblastoma stem cell model.
- Identification of a PORCN c.1093C>T (p.Arg365Trp) Variant in a 12-Year-Old Girl With Goltz-Gorlin Syndrome.
- [Research advance on the clinical phenotypes and molecular genetic mechanisms of Microcephalic primordial dwarfism].Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics· 2026· PMID 41621849mais citado
- Bi-allelic WDHD1 variants cause microcephalic primordial dwarfism.
- Challenging interpretation of low-level PTCH1 mosaicism in patients with clinically diagnosed Gorlin syndrome: a case series and review of the literature.
- Oculo-Auriculo-Vertebral Spectrum (Goldenhar Syndrome).
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:377(Orphanet)
- MONDO:0007187(MONDO)
- GARD:7166(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Q1536720(Wikidata)
Dados compilados pelo RarasNet a partir de fontes abertas (Orphanet, OMIM, MONDO, PubMed/EuropePMC, ClinicalTrials.gov, DATASUS, PCDT/MS). Este conteúdo é informativo e não substitui avaliação médica.
Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar
