Raras
Buscar doenças, sintomas, genes...
Síndrome Gorlin
ORPHA:377CID-10 · C44.9CID-11 · LD2D.4DOENÇA RARA

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.

Mantido por Agente Raras·Colaborar como especialista →

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.

Pesquisas ativas
3 ensaios
43 total registrados no ClinicalTrials.gov
Publicações científicas
808 artigos
Último publicado: 2026 Apr 9

Escala de raridade

CLASSIFICAÇÃO ORPHANET · BRASIL 2024
1-9 / 100 000
Ultra-rara
<1/50k
Muito rara
1/20k
Rara
1/10k
Pouco freq.
1/5k
Incomum
1/2k
Prevalência
2.0
Europe
Início
Adolescent
+ adult
🏥
SUS: Sem cobertura SUSScore: 0%
CID-10: C44.9
Você se identifica com essa condição?
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Entender a doença

Do básico ao detalhe, leia no seu ritmo

Preparando trilha educativa...

Sinais e sintomas

O que aparece no corpo e com que frequência cada sintoma acontece

Partes do corpo afetadas

🦴
Ossos e articulações
19 sintomas
😀
Face
10 sintomas
🧠
Neurológico
6 sintomas
👁️
Olhos
4 sintomas
🧬
Pele e cabelo
3 sintomas
❤️
Coração
2 sintomas

+ 28 sintomas em outras categorias

Características mais comuns

90%prev.
Fóveas palmares
Muito frequente (99-80%)
90%prev.
Calcificação cerebral
Muito frequente (99-80%)
90%prev.
Nevo melanocítico
Muito frequente (99-80%)
90%prev.
Fóveas plantares
Muito frequente (99-80%)
90%prev.
Neoplasia
Muito frequente (99-80%)
55%prev.
Morfologia anormal do pescoço
Frequente (79-30%)
75sintomas
Muito frequente (5)
Frequente (14)
Ocasional (24)
Muito raro (2)
Sem dados (30)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 75 características clínicas mais associadas, ordenadas por frequência.

Fóveas palmaresPalmar pits
Muito frequente (99-80%)90%
Calcificação cerebralCerebral calcification
Muito frequente (99-80%)90%
Nevo melanocíticoMelanocytic nevus
Muito frequente (99-80%)90%
Fóveas plantaresPlantar pits
Muito frequente (99-80%)90%
NeoplasiaNeoplasm
Muito frequente (99-80%)90%

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa1desde 2026
Total histórico808PubMed
Últimos 10 anos200publicações
Pico202248 papers
Linha do tempo
2026Hoje · 2026🧪 1977Primeiro ensaio clínico📈 2022Ano de pico
Publicações por ano (últimos 10 anos)

Encontrou um erro ou informação desatualizada? Sugira uma correção →

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.

PTCH2Protein patched homolog 2Disease-causing germline mutation(s) inTolerante
FUNÇÃO

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)

LOCALIZAÇÃO

Membrane

VIAS BIOLÓGICAS (1)
Class B/2 (Secretin family receptors)
MECANISMO DE DOENÇA

Medulloblastoma

Malignant, invasive embryonal tumor of the cerebellum with a preferential manifestation in children.

EXPRESSÃO TECIDUAL(Ubíquo)
Testículo
50.1 TPM
Ovário
41.7 TPM
Nervo tibial
32.2 TPM
Cerebelo
23.6 TPM
Cérebro - Hemisfério cerebelar
20.7 TPM
OUTRAS DOENÇAS (4)
medulloblastomabasal cell carcinoma, susceptibility to, 1commissural facial cleftnevoid basal cell carcinoma syndrome
HGNC:9586UniProt:Q9Y6C5
SUFUSuppressor of fused homologDisease-causing germline mutation(s) (loss of function) inAltamente restrito
FUNÇÃO

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

LOCALIZAÇÃO

CytoplasmNucleus

VIAS BIOLÓGICAS (4)
GLI3 is processed to GLI3R by the proteasomeHedgehog 'off' stateDegradation of GLI1 by the proteasomeDegradation of GLI2 by the proteasome
MECANISMO DE DOENÇA

Medulloblastoma

Malignant, invasive embryonal tumor of the cerebellum with a preferential manifestation in children.

EXPRESSÃO TECIDUAL(Ubíquo)
Skin Sun Exposed Lower leg
19.1 TPM
Testículo
17.1 TPM
Skin Not Sun Exposed Suprapubic
16.1 TPM
Nervo tibial
15.3 TPM
Útero
14.5 TPM
OUTRAS DOENÇAS (11)
Joubert syndrome 32basal cell nevus syndrome 2familial multiple meningiomamedulloblastoma with extensive nodularity
HGNC:16466UniProt:Q9UMX1
PTCH1Protein patched homolog 1Disease-causing germline mutation(s) (loss of function) inAltamente restrito
FUNÇÃO

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

LOCALIZAÇÃO

Cell membrane

VIAS BIOLÓGICAS (4)
Hedgehog 'on' stateActivation of SMOLigand-receptor interactionsHedgehog 'off' state
MECANISMO DE DOENÇA

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.

EXPRESSÃO TECIDUAL(Ubíquo)
Cérebro - Hemisfério cerebelar
35.1 TPM
Cerebelo
34.9 TPM
Nervo tibial
33.6 TPM
Testículo
17.2 TPM
Bladder
9.1 TPM
OUTRAS DOENÇAS (11)
basal cell carcinoma, susceptibility to, 1holoprosencephaly 7basal cell nevus syndrome 1obsolete septopreoptic holoprosencephaly
HGNC:9585UniProt:Q13635

Variantes genéticas (ClinVar)

7,277 variantes patogênicas registradas no ClinVar.

🧬 PTCH2: NM_003738.5(PTCH2):c.2524A>G (p.Arg842Gly) ()
🧬 PTCH2: NM_003738.5(PTCH2):c.87C>A (p.Ser29Arg) ()
🧬 PTCH2: NM_003738.5(PTCH2):c.522G>A (p.Glu174=) ()
🧬 PTCH2: NM_003738.5(PTCH2):c.2192_2193delinsAA (p.Leu731Gln) ()
🧬 PTCH2: NM_003738.5(PTCH2):c.1600G>A (p.Val534Met) ()
Ver todas no ClinVar

Classificação de variantes (ClinVar)

Distribuição de 6,834 variantes classificadas pelo ClinVar.

4100
2734
VUS (60.0%)
Benigna (40.0%)
VARIANTES MAIS SIGNIFICATIVAS
PTCH1: NM_000264.5(PTCH1):c.922G>A (p.Ala308Thr) [Uncertain significance]
PTCH1: NM_000264.5(PTCH1):c.1504G>A (p.Val502Ile) [Uncertain significance]
PTCH1: NM_000264.5(PTCH1):c.4300G>A (p.Asp1434Asn) [Uncertain significance]
PTCH2: NM_003738.5(PTCH2):c.2192_2193delinsAA (p.Leu731Gln) [Uncertain significance]
LOC100507346: NM_000264.5(PTCH1):c.1745T>C (p.Val582Ala) [Uncertain significance]

Diagnóstico

Os sinais que médicos procuram e os exames que confirmam

Carregando...

Tratamento e manejo

Remédios, cuidados de apoio e o que precisa acompanhar

Pipeline de tratamentos
Pipeline regulatório — de medicamentos já aprovados a drogas em pesquisa exploratória.
3Fase 32
2Fase 25
·Pré-clínico3
Medicamentos catalogadosEnsaios clínicos· 0 medicamentos · 10 ensaios
Carregando informações de tratamento...

Onde tratar no SUS

Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)

🇧🇷 Atendimento SUS — Síndrome Gorlin

🗺️

Selecione um estado ou use sua localização para ver resultados.

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

🟢 Recrutando agora

2 pesquisas recrutando participantes. Converse com seu médico sobre a possibilidade de participar.

Outros ensaios clínicos

43 ensaios clínicos encontrados, 3 ativos.

Distribuição por fase
Ver todos no ClinicalTrials.gov
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Publicações mais relevantes

Timeline de publicações
408 papers (10 anos)
#1

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 America2026 Feb 24

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.

#2

The role of a multidisciplinary approach in non-melanoma skin cancer management.

Dermatology reports2026 Feb 23

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.

#3

Dual PI3K/AKT and CDK4/6 inhibition reveals selective sensitivity in an SHH medulloblastoma stem cell model.

Molecular oncology2026 Feb 24

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.

#4

Identification of a PORCN c.1093C>T (p.Arg365Trp) Variant in a 12-Year-Old Girl With Goltz-Gorlin Syndrome.

Clinical case reports2026 Feb

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.

#5

[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 genetics2026 Jan 10

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

Ver todas no PubMed

📚 EuropePMC408 artigos no totalmostrando 198

2026

The role of a multidisciplinary approach in non-melanoma skin cancer management.

Dermatology reports
2026

Dual PI3K/AKT and CDK4/6 inhibition reveals selective sensitivity in an SHH medulloblastoma stem cell model.

Molecular oncology
2026

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

Identification of a PORCN c.1093C>T (p.Arg365Trp) Variant in a 12-Year-Old Girl With Goltz-Gorlin Syndrome.

Clinical case reports
2026

[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

Molecular diagnosis of rare biallelic CDC45 gene variants causing Meier-Gorlin syndrome-7 using whole exome sequencing.

Human genomics
2026

Meier-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 &amp; metabolism : JPEM
2026

AlphaFold3 predictions of novel GLI-SUFU interfaces identify binding-defective SUFU missense variants from medulloblastoma and Gorlin Syndrome patients.

bioRxiv : the preprint server for biology
2026

Resection of intracardiac tumors in infants.

Acta chirurgica Belgica
2025

A Presentation of Fungating Nevoid Basal Cell Carcinoma Syndrome.

Cureus
2026

Molecular impacts of Meier-Gorlin syndrome mutations on human origin licensing.

The Journal of biological chemistry
2026

Clinical practice guidelines for the management of basal cell carcinoma in Gorlin syndrome.

Journal of the American Academy of Dermatology
2025

Basaloid Proliferations in Palmar Lesions of Gorlin Syndrome: A Distinct Entity or Precursor Lesion?

The American Journal of dermatopathology
2026

Clinical and Molecular Study of a Gorlin Syndrome Type 1 Case.

Advances in experimental medicine and biology
2025

Clinical 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 Neurosurgery
2026

Does Basal Cell Carcinoma Arise from a Precursor Lesion?

The Journal of investigative dermatology
2025

A case of basal cell nevus syndrome with a SUFU mutation.

Dermatology online journal
2025

Synchronous Cardiac Fibroma and Medulloblastoma in Gorlin Syndrome: A Paradigmatic Case and Narrative Review.

Children (Basel, Switzerland)
2025

Anesthetic management in a child with Meier-Gorlin syndrome: a case report.

BMC anesthesiology
2026

Clinical and genetic findings in 103 individuals in Norway with basal cell naevus syndrome.

The British journal of dermatology
2025

Multicenter Retrospective Case Series on the Real-World Experience With Sonidegib for the Management of Gorlin Syndrome.

The Australasian journal of dermatology
2025

Low-dose oral minoxidil for the management of vismodegib-induced alopecia.

JAAD case reports
2025

A camouflaged carcinoma and it's surgical encounter - A case report.

International journal of surgery case reports
2025

Unexpected molecular mechanism of Orc6-based Meier-Gorlin syndrome: insights from a humanized Drosophila model.

Genetics
2025

Congenital Absence of Bilateral Patella in an Active Military Personnel Case Report.

Journal of orthopaedic case reports
2025

A Novel PTCH1 Non-Canonical Splice Region Variant Associated with Gorlin Syndrome: A Case Report.

Molecular syndromology
2025

Clinical Features and PTCH1 Expression in Gorlin-Goltz Syndrome: A Case Report.

Reports (MDPI)
2025

Gorlin-Goltz syndrome: Multidisciplinary approach for early diagnosis of rare disease for better patient outcome.

Radiology case reports
2025

Skin Signals: Exploring the Intersection of Cancer Predisposition Syndromes and Dermatological Manifestations.

International journal of molecular sciences
2025

Vitiligo-associated protection against basal cell carcinoma: Clinical observations.

JAAD case reports
2025

Mutational analysis of the Drosophila CMG helicase reveals relationships among chromosome integrity and the maintenance of spindle and centrosome structure.

Genetics
2025

Subtypes of basal cell carcinomas in adults with basal cell nevus syndrome: A retrospective review.

Journal of the American Academy of Dermatology
2025

Eight-Year Experience of Hedgehog Pathway Inhibitors at Three Tertiary Referral Centres in the Australian State of Victoria.

The Australasian journal of dermatology
2025

At the mercy of my condition: a patient perspective on living with Gorlin syndrome.

Clinical and experimental dermatology
2025

Diagnostic Yield of Exome Sequencing for Pregnancies With and Without Fetal Anomalies and for Stillbirth.

Prenatal diagnosis
2025

A Case of Sustained Ventricular Tachycardia Secondary to a Cardiac Fibroma in a Patient With Gorlin Syndrome.

Cureus
2025

Worth the Effort: Lessons for Discovery and Care From an Unusual Case of Gorlin Syndrome.

American journal of medical genetics. Part A
2025

Nonsyndromic epidermal differentiation disorders: a new classification toward pathogenesis-based therapy.

The British journal of dermatology
2025

Syndromic epidermal differentiation disorders: a new classification toward pathogenesis-based therapy.

The British journal of dermatology
2025

Effects of CDC45 mutations on DNA replication and genome stability.

Biochimica et biophysica acta. Molecular cell research
2025

Palmoplantar epidermal differentiation disorders: a new classification toward pathogenesis-based therapy.

The British journal of dermatology
2025

A 12-Year-Old Female With Facial Bumps, Body Pits, and Coiled Scalp Hair.

Pediatric dermatology
2025

Determining the Relationship Between Cutaneous Keratocysts and Basal Cell Nevus Syndrome.

Journal of cutaneous pathology
2025

Early onset basal cell carcinoma: Consider Bazex-Dupré-Christol syndrome.

European journal of medical genetics
2025

A 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 sciences
2025

Patidegib: a novel, promising treatment for basal cell carcinoma lesions in patients with Gorlin syndrome.

The British journal of dermatology
2025

Nevoid basal cell carcinoma syndrome (Gorlin syndrome): a case report.

Journal of medical case reports
2024

A 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 diseases
2024

Surgical management of ovarian fibromas in young patients with Gorlin syndrome: a case series and review of the literature.

F&amp;S reports
2024

Clinicopathological and molecular insights into odontogenic tumors associated with syndromes: A comprehensive review.

World journal of experimental medicine
2025

Metastatic basal cell carcinomas in Gorlin syndrome-A case series and literature review.

The Australasian journal of dermatology
2024

Clinical Challenges in Diagnosing Primordial Dwarfism: Insights from a MOPD II Case Study.

Medicina (Kaunas, Lithuania)
2025

Analysis of Germline and Somatic Mutation in Patients With Developmental Odontogenic Cysts Using Targeted Gene Panel.

Journal of oral pathology &amp; medicine : official publication of the International Association of Oral Pathologists and the American Academy of Oral Pathology
2025

Topical application of the Hedgehog inhibitor patidegib in patients with Gorlin syndrome: a phase II trial.

The British journal of dermatology
2025

Use of Anti-PD1 Blockade After Hedgehog Inhibitors or as First-Line Therapy for Gorlin Syndrome.

JAMA dermatology
2025

Re-evaluation of the concept of basaloid follicular hamartoma associated with naevoid basal cell carcinoma syndrome: a morphological, immunohistochemical and molecular study.

Pathology
2024

Exploration of the causative gene in a case of multiple nevoid basal cell carcinoma: A case report.

Rare tumors
2024

Brain morphological analysis in mice with hyperactivation of the hedgehog signaling pathway.

Frontiers in neuroscience
2024

Clinicopathological and molecular spectrum of patients with germline SUFU mutations: A case series.

Journal of cutaneous pathology
2024

Phenotypes, Genetics, and Estimated Prevalence of Focal Dermal Hypoplasia (Goltz Syndrome): A Single-Center Report.

Pediatric dermatology
2024

Proteome-scale characterisation of motif-based interactome rewiring by disease mutations.

Molecular systems biology
2024

Intrauterine growth in chromatinopathies: A long road for better understanding and for improving clinical management.

Birth defects research
2024

Developing expert consensus for the use of hedgehog inhibitors in basal cell nevus syndrome.

Archives of dermatological research
2024

Oral smoothened inhibitors for Gorlin syndrome: A clinical review.

Journal of the American Academy of Dermatology
2024

Meier-Gorlin syndrome type 7: a rare cause of primordial dwarfism: two new cases and literature review.

Clinical dysmorphology
2024

Gorlin Syndrome-Associated Basal Cell Carcinomas Treated with Vismodegib or Sonidegib: A Retrospective Study.

Cancers
2024

Germline PTCH1: c.361_362insAlu alteration identified by comprehensive exome and RNA sequencing in a patient with Gorlin syndrome.

American journal of medical genetics. Part A
2024

Further Expanding the Mutational Spectrum of Gorlin Syndrome in Three Unrelated Families.

Molecular syndromology
2024

A Long-Term Follow-Up of a Patient with a Novel PORCN Variant and Additional Clinical Features.

Molecular syndromology
2024

Skin cancer-associated genodermatoses in skin of color patients: a review.

Archives of dermatological research
2024

Functional studies in yeast confirm the pathogenicity of a new GINS3 Meier-Gorlin syndrome variant.

Clinical genetics
2025

Clinical vs. molecular diagnosis of Gorlin syndrome: relevance of diagnostic criteria depends on the age of the patients.

Clinical and experimental dermatology
2024

Assessment of Mammalian Target of Rapamycin Pathway Activation in Basal Cell Carcinoma as a New Therapeutic Approach.

The American Journal of dermatopathology
2024

PERIOCULAR 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 news
2024

A second hotspot for pathogenic exon-skipping variants in CDC45.

European journal of human genetics : EJHG
2024

Gorlin Syndrome: A Comprehensive Evaluation of Skin Findings.

Turkish archives of pediatrics
2024

Postmortem 7T MRI in Goltz-Gorlin Syndrome: Insights into fetal anomalies beyond conventional imaging techniques.

European journal of radiology
2024

Digital pathology-based artificial intelligence models for differential diagnosis and prognosis of sporadic odontogenic keratocysts.

International journal of oral science
2024

Pediatric odontogenic keratocyst and early diagnosis of Gorlin syndrome: Clinicopathological aids.

The Saudi dental journal
2024

Dentofacial manifestations of a Paediatric patient with Goltz-Gorlin Syndrome.

BMJ case reports
2024

Gorlin-Like Phenotype in a Young Girl With a De Novo PTCH2 Variant Mutation of Uncertain Significance.

The American Journal of dermatopathology
2024

Defining the progeria phenome.

Aging
2024

Medulloblastoma and other neoplasms in patients with heterozygous germline SUFU variants: A scoping review.

American journal of medical genetics. Part A
2023

The Origin Recognition Complex: From Origin Selection to Replication Licensing in Yeast and Humans.

Biology
2024

Genetics of Cardiac Tumours: A Narrative Review.

Heart, lung &amp; circulation
2024

DONSON: Slding in 2 the limelight.

DNA repair
2024

Acquisition of Drug Resistance in Basal Cell Nevus Syndrome Tumors through Basal to Squamous Cell Carcinoma Transition.

The Journal of investigative dermatology
2024

Hedgehog Inhibitors Beyond Clinical Complete Response in Basal Cell Carcinoma: Should I Stop or Should I Go?

The oncologist
2024

Photodynamic 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 dermatology
2023

Exploring the Changing Diagnostic Criteria of Gorlin-Goltz Syndrome: A Case Report.

Oncology (Williston Park, N.Y.)
2023

Loss-of-function of zebrafish cdt1 causes retarded body growth and underdeveloped gonads resembling human Meier-Gorlin syndrome.

Journal of Zhejiang University. Science. B
2023

An 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.]
2023

Bilateral ovarian fibromas as the sole manifestation of Gorlin syndrome in a 22-year-old woman: a case report and literature review.

Diagnostic pathology
2023

Sustained Suppression of Gorlin Syndrome-Associated Basal Cell Carcinomas with Vismodegib or Sonidegib: A Case Series.

Current oncology (Toronto, Ont.)
2023

Case Report: Papillary thyroid carcinoma in Goltz-Gorlin syndrome.

Frontiers in endocrinology
2023

Tolerance of sonidegib after intolerance of vismodegib-Experience in two patients with nevoid basal cell carcinoma syndrome (Gorlin syndrome).

Skin health and disease
2023

DONSON is required for CMG helicase assembly in the mammalian cell cycle.

EMBO reports
2023

A 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
2023

[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 genetics
2023

DONSON facilitates Cdc45 and GINS chromatin association and is essential for DNA replication initiation.

Nucleic acids research
2023

Hedgehog-Related Mutation Causes Bone Malformations with or without Hereditary Gene Mutations.

International journal of molecular sciences
2023

Incidence and Prevalence of 73 Different Genodermatoses: A Nationwide Study in Sweden.

Acta dermato-venereologica
2023

European consensus-based interdisciplinary guideline for diagnosis and treatment of basal cell carcinoma-update 2023.

European journal of cancer (Oxford, England : 1990)
2025

Gorlin Syndrome and Cowden Syndrome.

The Keio journal of medicine
2023

Whole-Exome Sequencing Identified Two Novel Pathogenic Mutations in the PTCH1 Gene in BCNS.

Current issues in molecular biology
2023

Brain and/or Spinal Cord Tumors Accompanied with Other Diseases or Syndromes.

Advances in experimental medicine and biology
2023

Isolated frontosphenoidal craniosynostosis: An argument for genetic testing.

American journal of medical genetics. Part A
2023

De novo MCM6 variants in neurodevelopmental disorders: a recognizable phenotype related to zinc binding residues.

Human genetics
2023

Fine Wine or Stale Bread: The Aging Emergency Physician.

Annals of emergency medicine
2023

A Novel Method to Reconstruct the Upper and Lower Jaws Using 3D-Custom-Made Titanium Implants.

The Journal of craniofacial surgery
2023

Surveillance of a large cardiac fibroma in a patient with Gorlin syndrome.

BMJ case reports
2023

An Easily Missed But Life-Threatening Diagnosis: A Case Report of Gorlin Syndrome.

The American journal of case reports
2023

Understanding Nevoid Basal Cell Carcinoma Syndrome (Gorlin Syndrome): A Case Report.

Cureus
2023

Sonidegib as a Locally Advanced Basal Cell Carcinoma Therapy in Real-life Clinical Setting: A National Multicentre Study.

Actas dermo-sifiliograficas
2023

The expanding genetic and clinical landscape associated with Meier-Gorlin syndrome.

European journal of human genetics : EJHG
2023

Perspectives on the implications of carrying putative pathogenic variants in the medulloblastoma predisposition genes ELP1 and GPR161.

Familial cancer
2023

Modeling human cancer predisposition syndromes using CRISPR/Cas9 in human cell line models.

Genes, chromosomes &amp; cancer
2023

A case of Gorlin syndrome like phenotype with multiple infundibulocystic basal cell carcinomas in a moniliform blepharosis arrangement.

JAAD case reports
2023

Association of Meier-Gorlin and microcephalic osteodysplastic primordial dwarfism type II clinical features in an individual with CDK5RAP2 primary microcephaly.

European journal of medical genetics
2023

SUFU-associated Gorlin syndrome: Expanding the spectrum between classic nevoid basal cell carcinoma syndrome and multiple hereditary infundibulocystic basal cell carcinoma.

The Australasian journal of dermatology
2023

Cardiac Fibroma Presenting With Left Bundle Branch Block in an Adult With Gorlin Syndrome.

Texas Heart Institute journal
2023

Imaging of Bifid Fourth Rib Presenting as a Chest Wall Mass in an Infant.

Texas Heart Institute journal
2023

A novel biallelic CRIPT variant in a patient with short stature, microcephaly, and distinctive facial features.

American journal of medical genetics. Part A
2023

Characterization of intractable diarrhea resulting from vismodegib treatment for basal cell nevus syndrome.

JAAD case reports
2023

Defining patient-centered research priorities in pediatric dermatology.

Pediatric dermatology
2023

Pediatric Cutaneous Oncology: Genodermatoses and Cancer Syndromes.

Dermatologic clinics
2022

Molecular Mechanisms and Targeted Therapies of Advanced Basal Cell Carcinoma.

International journal of molecular sciences
2022

A 10-year follow-up on the chemopreventive role of photodynamic therapy in a Gorlin syndrome patient.

The Australasian journal of dermatology
2022

Early-onset basal cell carcinoma; wide case series at a single tertiary center in middle Anatolia.

Northern clinics of Istanbul
2022

Utility of optical coherence tomography in basal cell naevus syndrome: A case report.

The Australasian journal of dermatology
2022

Gorlin Syndrome Associated With a Solitary Circumscribed Retinal Astrocytic Proliferation in a Pediatric Patient.

Ophthalmic surgery, lasers &amp; imaging retina
2022

Predictive factors of response to vismodegib: a French study of 61 patients with multiple or locally advanced basal cell carcinoma.

European journal of dermatology : EJD
2022

Nervous system (NS) Tumors in Cancer Predisposition Syndromes.

Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics
2022

Clinical Impact of Cardiac Fibromas.

The American journal of cardiology
2022

Photodynamic therapy in pediatric age: Current applications and future trends.

Frontiers in pharmacology
2022

Meier-Gorlin Syndrome: Clinical Misdiagnosis, Genetic Testing and Functional Analysis of ORC6 Mutations and the Development of a Prenatal Test.

International journal of molecular sciences
2022

Advances in Management and Therapeutics of Cutaneous Basal Cell Carcinoma.

Cancers
2022

PTCH1 mutant small cell glioblastoma in a patient with Gorlin syndrome: A case report.

Oncology letters
2022

Patient and caregiver perspectives on delayed childhood Gorlin syndrome diagnoses.

Pediatric dermatology
2022

Ovarian tumors and genetic predisposition.

Ceska gynekologie
2022

Multidisciplinary approach to Gorlin-Goltz syndrome: from diagnosis to surgical treatment of jawbones.

Maxillofacial plastic and reconstructive surgery
2022

Gorlin syndrome - Case report.

Journal of dental sciences
2022

Case report of bilateral ovarian fibromas associated with de novo germline variants in PTCH1 and SMARCA4.

Molecular genetics &amp; genomic medicine
2022

Basal Cell Carcinoma and Hedgehog Pathway Inhibitors: Focus on Immune Response.

Frontiers in medicine
2022

Ovarian 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 dermatology
2022

Experience with sonidegib in patients with advanced basal cell carcinoma: case reports.

Drugs in context
2022

Hypomorphic GINS3 variants alter DNA replication and cause Meier-Gorlin syndrome.

JCI insight
2022

Pediatric 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 Neurosurgery
2022

An investigation of metabolic disturbances, including urinary stone disease, hypothyroidism, and osteoporosis in basal cell nevus syndrome.

Pediatric dermatology
2022

Multidisciplinary neurocutaneous syndrome clinics: a systematic review and institutional experience.

Neurosurgical focus
2022

Update on Hedgehog Pathway Inhibitor Therapy for Patients with Basal Cell Naevus Syndrome or High-frequency Basal Cell Carcinoma.

Acta dermato-venereologica
2022

Development of a targeted gene panel for the diagnosis of Gorlin syndrome.

International journal of oral and maxillofacial surgery
2022

Leiomyomatosis in an Infant With a SUFU Splice Site Variant: Case Report.

Journal of pediatric hematology/oncology
2022

Gorlin 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 Oncology
2022

Nevoid 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 stomatology
2022

Update from the 5th Edition of the World Health Organization Classification of Head and Neck Tumors: Familial Tumor Syndromes.

Head and neck pathology
2022

Microcephalic 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 A
2022

Meier-Gorlin syndrome with prenatal ultrasound findings and successful growth hormone therapy: Six years follow-up of a rare case.

Radiology case reports
2022

Topical hedgehog inhibitors for basal cell carcinoma: how far away are we?

Expert opinion on pharmacotherapy
2022

Hairy patches as early dermatological signs of Gorlin syndrome in a patient with a novel PTCH1 genetic variant.

The Journal of dermatology
2022

Gorlin Syndrome: Sequential Digital Dermoscopy of Palpebral Basal Cell Carcinomas in a Patient Treated with Vismodegib.

Dermatology practical &amp; conceptual
2022

Novel uses of laser therapy in Goltz syndrome.

Dermatologic therapy
2022

Novel Compound Heterozygous Variants in the CDC6 Gene in a Russian Patient with Meier-Gorlin Syndrome.

The application of clinical genetics
2022

Meningothelial Hamartoma of the Scalp in a Child With Gorlin Syndrome.

The American Journal of dermatopathology
2022

Cancer-Predisposition Genetic Analysis in Children with Brain Tumors Treated at a Single Institution in Japan.

Oncology
2022

Angioma-serpiginosum-like and hyperkeratotic lesions in a patient with Goltz syndrome.

Journal of cutaneous pathology
2022

Bilateral ovarian fibromas in a 15-year-old primary amenorrhea patient: a case report.

Radiology case reports
2021

Calcified Ovarian Fibromas Complicated with Basal Cell Nevus Syndrome.

Gynecology and minimally invasive therapy
2021

Defining the Spectrum, Treatment and Outcome of Patients With Genetically Confirmed Gorlin Syndrome From the HIT-MED Cohort.

Frontiers in oncology
2021

Evaluation 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?

Cancers
2021

Pediatric basal cell carcinoma burden and management preferences in Gorlin syndrome: A survey study.

JAAD international
2022

How to manage patients with Gorlin syndrome.

The British journal of dermatology
2022

Tumor Syndromes: Neurosurgical Evaluation and Management.

Neurosurgery clinics of North America
2022

Neurosurgical Considerations of Neurocutaneous Syndromes.

Neurosurgery clinics of North America
2021

Novel alterations in IFT172 and KIFAP3 may induce basal cell carcinoma.

Orphanet journal of rare diseases
2022

Nevoid basal cell carcinoma syndrome: a case report and literature review.

Ophthalmic genetics
2021

Bifid rib with fused vertebrae - A rare abnormality of the skeletal system: A case report.

International journal of surgery case reports
2021

Presence of circulating tumor cells in a patient with multiple invasive basal cell carcinoma - a case report.

Acta chirurgiae plasticae
2022

Biallelic GINS2 variant p.(Arg114Leu) causes Meier-Gorlin syndrome with craniosynostosis.

Journal of medical genetics
2022

Dental and orthodontic follow-up in nevoid basal cell carcinoma syndrome patient with odontogenic keratocystic tumors.

Journal of stomatology, oral and maxillofacial surgery
2022

PTCH2 is not a strong candidate gene for gorlin syndrome predisposition.

Familial cancer
2021

Cardiac fibroma with cardiac arrest: a rare clinical presentation of Gorlin syndrome in an 8-month-old infant.

BMJ case reports
2021

The molecular coupling between substrate recognition and ATP turnover in a AAA+ hexameric helicase loader.

eLife
2021

Prenatal diagnosis of Meier-Gorlin syndrome 7: a case presentation.

BMC pregnancy and childbirth
2020

Gorlin syndrome: A rare case report.

Journal of oral and maxillofacial pathology : JOMFP
2021

Microdeletion of 9q22.3: A patient with minimal deletion size associated with a severe phenotype.

American journal of medical genetics. Part A
2021

Basal cell nevus syndrome with excessive basal cell carcinomas.

Archives of craniofacial surgery
2021

Differences in RNA and microRNA Expression Between PTCH1- and SUFU-mutated Medulloblastoma.

Cancer genomics &amp; proteomics
2021

Current recommendations for cancer surveillance in Gorlin syndrome: a report from the SIOPE host genome working group (SIOPE HGWG).

Familial cancer
2020

Multiple 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 Dermatology
2021

Current update on the molecular genetics and management of hereditary ovarian cancers: a primer for radiologists.

Abdominal radiology (New York)
2021

A Novel Case of Gorlin Syndrome Mosaicism Involving an SMO Gene Mutation: Clinical, Histological and Molecular Analysis of Basaloid Tumours.

Acta dermato-venereologica
2023

Concurrent basal cell carcinoma and tarsal epithelial cyst as a presenting sign of Gorlin syndrome.

Orbit (Amsterdam, Netherlands)
2021

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 : EJHG
2021

A 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 genetics
2021

De Novo PORCN and ZIC2 Mutations in a Highly Consanguineous Family.

International journal of molecular sciences
2021

Congenital Diseases of DNA Replication: Clinical Phenotypes and Molecular Mechanisms.

International journal of molecular sciences
2021

An incidental finding of intraocular choristoma in an enucleated microphthalmic globe: A histopathologic case report.

International journal of surgery case reports
Ver todos os 408 no EuropePMC

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Doenças relacionadas

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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.

  1. 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
  2. The role of a multidisciplinary approach in non-melanoma skin cancer management.
    Dermatology reports· 2026· PMID 41755620mais citado
  3. Dual PI3K/AKT and CDK4/6 inhibition reveals selective sensitivity in an SHH medulloblastoma stem cell model.
    Molecular oncology· 2026· PMID 41734992mais citado
  4. Identification of a PORCN c.1093C&gt;T (p.Arg365Trp) Variant in a 12-Year-Old Girl With Goltz-Gorlin Syndrome.
    Clinical case reports· 2026· PMID 41641168mais citado
  5. [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
  6. Bi-allelic WDHD1 variants cause microcephalic primordial dwarfism.
    Am J Hum Genet· 2026· PMID 41962535recente
  7. Challenging interpretation of low-level PTCH1 mosaicism in patients with clinically diagnosed Gorlin syndrome: a case series and review of the literature.
    Hered Cancer Clin Pract· 2026· PMID 41888819recente
  8. Oculo-Auriculo-Vertebral Spectrum (Goldenhar Syndrome).
    · 2026· PMID 35015423recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:377(Orphanet)
  2. MONDO:0007187(MONDO)
  3. GARD:7166(GARD (NIH))
  4. Variantes catalogadas(ClinVar)
  5. Busca completa no PubMed(PubMed)
  6. 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

Síndrome Gorlin
Compêndio · Raras BR

Síndrome Gorlin

ORPHA:377 · MONDO:0007187
Prevalência
1-9 / 100 000
Herança
Autosomal dominant
CID-10
C44.9 · Neoplasia maligna da pele, não especificada
CID-11
Ensaios
3 ativos
Início
Adolescent, Adult
Prevalência
2.0 (Europe)
MedGen
UMLS
C0004779
EuropePMC
Wikidata
Papers 10a
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