Colágeno Tipo II Alfa 1 , também conhecido como COL2A1, é um gene humano que providencia instruções para a produção da cadeia pro-alfa1(II) de colágeno tipo II.
Introdução
O que você precisa saber de cara
Síndrome de Stickler tipo 1 é uma doença autossômica dominante causada por mutações no gene COL2A1. Manifesta-se com úvula bífida, fissura palatina, pectus excavatum, estatura alta desproporcional, problemas oculares (miopia, descolamento de retina, catarata) e, em alguns casos, deficiência intelectual.
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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
+ 11 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 53 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
1 gene identificado com associação a esta condição.
Type II collagen is specific for cartilaginous tissues. It is essential for the normal embryonic development of the skeleton, for linear growth and for the ability of cartilage to resist compressive forces
Secreted, extracellular space, extracellular matrix
Spondyloepiphyseal dysplasia congenital type
Disorder characterized by disproportionate short stature and pleiotropic involvement of the skeletal and ocular systems.
Variantes genéticas (ClinVar)
1,449 variantes patogênicas registradas no ClinVar.
Classificação de variantes (ClinVar)
Distribuição de 320 variantes classificadas pelo ClinVar.
Vias biológicas (Reactome)
13 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 de Stickler tipo 1
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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
3 pesquisas recrutando participantes. Converse com seu médico sobre a possibilidade de participar.
Outros ensaios clínicos
6 ensaios clínicos encontrados, 4 ativos.
Publicações mais relevantes
Prenatal Molecular Diagnosis of COL2A1-Associated Stickler Syndrome: Genotype-Phenotype Correlation in a Resource-Limited Healthcare Setting.
Stickler syndrome is a monogenic connective tissue disorder primarily caused by pathogenic variants in collagen-related genes, most commonly COL2A1. Prenatal diagnosis remains challenging, particularly in healthcare systems with limited access to molecular genetic testing. We report a prenatal case of suspected craniofacial anomaly detected on second-trimester ultrasound. Fetal DNA obtained by amniocentesis underwent next-generation sequencing. Parental testing was performed to assess inheritance. It was confirmed that autosomal dominant Stickler syndrome type I (ORPHA:90653) was caused by a heterozygous pathogenic frameshift variant in COL2A1 (c.3137del) that was inherited from the mother and identified in the fetus. Micrognathia was identified during prenatal ultrasound, and postnatal evaluation revealed characteristics that were consistent with Pierre Robin sequence and connective tissue involvement. The molecular discoveries elucidated the observed phenotype and facilitated multidisciplinary perinatal management. This case underscores the indispensable function of molecular diagnostics in the prenatal identification of monogenic disorders, including Stickler syndrome, in cases where conventional karyotyping is inadequate. Targeted clinical surveillance and family counseling are facilitated by early genetic confirmation. The report also emphasizes the necessity of incorporating molecular diagnostics into routine prenatal care for rare genetic diseases and the systemic limitations in access to genomic testing. Although the identified variant has been previously reported, this case highlights the clinical and diagnostic value of prenatal molecular confirmation in a resource-limited healthcare setting.
Comprehensive in silico analysis of genetic landscape and pathways involved in Stickler syndrome.
Stickler syndrome is a collection of hereditary conditions that impact connective tissue, mainly collagen, and can cause a variety of symptoms, such as joint and bone abnormalities, hearing loss, and visual impairments. Previous studies suggest that mutations in the collagen-encoding genes are a primary cause of SS. These mutations can be inherited from parents to offspring and may vary significantly in terms of severity and symptoms. Besides these mutations, the complex genetic maze underlying SS remains poorly understood, limiting the development of targeted therapeutic and biomarker options. In this study we aimed to identify key genes and molecular pathways potentially involved in SS using bioinformatics approaches, and to explore putative therapeutic directions. In our text mining analysis, we identified 24 distinct genes associated with SS in Homo sapiens, out of which 22 were chosen as candidate genes for enrichment analysis, based on their Gene Ontology (GO) annotations and participation in pertinent biological pathways. Cytoscape-based construction of the protein-protein interaction network revealed a single functional module comprising 22 nodes and 46 edges, from which nine hub genes were identified. Enrichment analysis demonstrated that these genes were predominantly involved in extracellular matrix organization, collagen fibril organization, skeletal system development, and extracellular structural organization, all of which play a critical role in the pathogenesis of SS. Furthermore, drug-gene interaction analysis suggested six of the nine hub genes may be linked to FDA-approved compounds. Our results provide a systematic framework for prioritizing genes and pathways which may pave the way for future studies aimed at biomarker discovery and therapeutic exploration in SS.
Three New Cases of Autosomal Recessive Stickler Syndrome due to Biallelic Variants in the LOXL3 Gene.
Stickler syndrome (SS) is clinically and genetically heterogeneous. Autosomal recessive Stickler syndrome (ARSS) is characterized by sensorineural hearing loss, myopia, retinal degeneration, vitreous anomalies, and epiphyseal dysplasia. It may also include midfacial hypoplasia, cleft palate, and skeletal manifestations. Currently, only 40 ARSS cases have been described, and just 4 are linked to pathogenic variants in the LOXL3 gene. A 20-year-old woman was referred to Medical Genetics due to Pierre Robin sequence, myopia, hearing loss, and distinct features. She was evaluated in early childhood with her sisters but was discharged without a specific genetic diagnosis. Polyhydramnios was detected in prenatal ultrasounds. Delivery occurred at 35 weeks. At birth, Pierre Robin sequence was evident, and she was admitted due to apnea. Complementary tests included karyotype, FISH 22q11, and screening for associated anomalies (cardiology, ophthalmology, ABR, and abdominal and cranial ultrasounds), all of which were normal. She had delayed speech development. She presents high myopia and bilateral conductive hearing loss, as well as nonspecific joint pain. She has two sisters with overlapping phenotypes. Both had cleft palate repair (one also with Pierre Robin sequence) and high-degree myopia. The first had a ventricular septal defect that spontaneously closed at age 5, and the second has conductive hearing loss. The physical examination highlights: microcephaly (head circumference < p1, -2.5 SD), downward-slanting palpebral fissures, midfacial and nasal ala hypoplasia, flat nasal bridge, elongated and flat philtrum, high-arched palate, absent uvula, joint hypermobility, shortening of third-fifth metacarpals and metatarsals, wide feet, and bilateral hallux valgus. Targeted sequencing of SS-associated genes revealed a likely pathogenic variant c.1735C>T and a variant of uncertain significance c.956G>A in the LOXL3 gene. Affected sisters carry both variants; both parents are healthy carriers. We report three new cases of SS due to previously undescribed biallelic variants in the LOXL3 gene. The clinical features are similar to those observed in other SS patients; however, digital anomalies and microcephaly have not been previously reported in patients with LOXL3 variants, thus expanding the phenotypic spectrum. This case highlights the importance of re-evaluating patients in light of ongoing advances in genetic diagnostics.
Early-Onset Ocular Presentation in Stickler Syndrome Type 1 Due to a COL2A1 Frameshift Variant.
BACKGROUND Stickler syndrome is a genetically heterogeneous connective tissue disorder caused by mutations in collagen genes (COL2A1, COL11A1, COL11A2, COL9A1, and COL9A2). It is characterized by a distinctive craniofacial appearance, high myopia, vitreoretinal degeneration, hearing loss, and early-onset arthritis. Type 1, the most common autosomal-dominant form, results from COL2A1 variants and is strongly associated with ocular complications, including high myopia, vitreous degeneration, and retinal detachment. Early recognition of systemic and ocular findings is essential for timely management and genetic counseling. CASE REPORT An 8-year-old Saudi girl presented to the emergency department with sudden deterioration of vision in the right eye. External examination revealed midfacial hypoplasia. Ophthalmologic evaluations, including best-corrected visual acuity measurement, fundus photography, optical coherence tomography, and genetic testing, were performed. Rhegmatogenous retinal detachment was identified and surgically managed. Revision surgery was performed; at 3 years post-revision, best-corrected visual acuity in the right eye had improved to 20/30. The family history included childhood retinal detachment in the patient's father. Clinical exome sequencing identified a novel heterozygous COL2A1 frameshift variant, c.3642delT (p.Gly1215Alafs*12), that introduced a premature stop codon; Sanger sequencing confirmation and segregation analysis were consistent with pathogenicity. CONCLUSIONS This report describes a previously undocumented COL2A1 frameshift variant causing Stickler syndrome type 1. The truncating mutation may be associated with the early-onset, ocular-predominant presentation observed in the present case. This variant expands the known COL2A1 mutational spectrum and underscores the importance of molecular testing for accurate diagnosis and family counseling in pediatric collagenopathies.
Genotype-Phenotype Correlations of COL2A1 and COL11A1 Patients.
To describe and compare the ophthalmologic and extraophthalmologic features of patients with Stickler syndrome because of pathogenic variants in COL2A1 and COL11A1. Retrospective cross-sectional study nested in a multicentric cohort study. Records of patients with a confirmed molecular diagnosis of Stickler syndrome followed up in the ophthalmology department at Necker-Enfants Malades and Cochin University hospitals (Paris) between 2016 and 2024 were retrospectively reviewed. Demographic data, clinical findings from ophthalmologic examination, and extraophthalmologic features were recorded. Patients with an incomplete file, lack of genetic evidence despite a compatible clinical phenotype, and those presenting with rare variants were excluded. Among 110 patients with confirmed Stickler syndrome, 90 (82%) had a COL2A1 variant and 20 (18%) a COL11A1 variant. The median age at last follow-up was 24.4 years (IQR 0.9-77.6), and the median follow-up duration was 10.8 years (IQR 4.2-27.3). Retinal detachment occurred in 50% of patients with COL2A1 variants (45/90) and 45% of those with COL11A1 variants (9/20), with no statistically significant difference between groups (P = .81). Twenty-four patients (22%) had a bilateral retinal detachment with a median time for a retinal detachment of the fellow eye of 3.0 (IQR 0-25.2) years. The patients with COL11A1 variants were significantly different from those with COL2A1 variants in terms of deafness frequency (50% [10/20] vs 13% [12/90]; P = .005; 95% CI 13.7%, 59.7%), axial lengths (28.9 ± 3.2 mm vs 26.3 ± 2.3 mm; P < .001; 95% CI +1.20, +4.02), age at retinal detachment onset (9.8 [IQR 5.3-19.7] years vs 13.3 [IQR 0.5-66] years; P = .006; 95% CI -12.44, -2.19), and median time to retinal detachment in the fellow eye (2.0 [IQR 0.2-3] years vs 4.5 [IQR 0-25.2] years; P = .009; 95% CI -7.99, -1.30). The study highlights phenotypic difference between COL2A1- and COL11A1-related Stickler syndrome, with COL11A1 variants potentially associated with more severe ocular phenotype. Such genotype-phenotype correlations may contribute to refining patient management and guiding prophylactic interventions. These findings could support individualized follow-up strategies; however, confirmation in larger cohorts is warranted.
Publicações recentes
Early-Onset Ocular Presentation in Stickler Syndrome Type 1 Due to a COL2A1 Frameshift Variant.
🥉 Relato de casoAxial length, myopia progression, and myopic maculopathy in Stickler syndrome.
Characteristics of Hearing Loss in Patients with COL2A1 Gene Variants (Sticker Syndrome Type 1).
Type II Collagen Disorders Overview.
A Novel COL2A1 Gene Pathogenic Variant in a Turkish Family With Ocular Stickler Syndrome.
📚 EuropePMC355 artigos no totalmostrando 153
Prenatal Molecular Diagnosis of COL2A1-Associated Stickler Syndrome: Genotype-Phenotype Correlation in a Resource-Limited Healthcare Setting.
International journal of molecular sciencesComprehensive in silico analysis of genetic landscape and pathways involved in Stickler syndrome.
PloS oneEarly-Onset Ocular Presentation in Stickler Syndrome Type 1 Due to a COL2A1 Frameshift Variant.
The American journal of case reportsAxial length, myopia progression, and myopic maculopathy in Stickler syndrome.
Acta ophthalmologicaThree New Cases of Autosomal Recessive Stickler Syndrome due to Biallelic Variants in the LOXL3 Gene.
Clinical geneticsGenotype-Phenotype Correlations of COL2A1 and COL11A1 Patients.
American journal of ophthalmologyPsychosocial aspects, chronic pain, fatigue and quality of life in individuals with Stickler syndrome: a scoping review and a cross-sectional questionnaire study.
Disability and rehabilitationRelative Risk of Retinal Detachment in COL2A1 Compared with COL11A1 Stickler Syndrome: An Individual Patient Data Meta-Analysis.
Ophthalmology. Retina[Clinical phenotype and genotypic analysis of a four-generation Chinese pedigree affected with Stickler syndrome and a literature review].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical geneticsCharacteristics of Hearing Loss in Patients with COL2A1 Gene Variants (Sticker Syndrome Type 1).
Indian journal of otolaryngology and head and neck surgery : official publication of the Association of Otolaryngologists of IndiaDistal Tibial Slipped Epiphysis in Stickler Syndrome: A Case Report.
JBJS case connector[Clinical characteristics and surgical outcomes of pediatric retinal detachment associated with Stickler syndrome].
[Zhonghua yan ke za zhi] Chinese journal of ophthalmologyA Single Institution Comparison of Speech Outcomes Following Palatoplasty in Stickler Syndrome.
Annals of plastic surgeryPaediatric glaucoma in Stickler syndromes: a comprehensive review of prevalence, comorbidities and outcomes.
BMJ open ophthalmologyLaser prophylaxis for retinal detachment in Stickler syndrome: A systematic review and meta-analysis.
Acta ophthalmologicaMyopia progression in children with Stickler syndrome: a longitudinal cohort study.
Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and StrabismusStickler syndrome: associated musculoskeletal manifestations and first population-based incidence.
Journal of pediatric orthopedics. Part BThe oral and maxillofacial manifestations of Stickler syndrome: A systematic review.
Journal of stomatology, oral and maxillofacial surgeryOphthalmic Manifestations in a Diverse Pediatric Population with Type I and Type II Stickler Syndrome.
Ophthalmology. RetinaRhegmatogenous Retinal Detachment Secondary to Type I Stickler Syndrome: Diagnosis, Treatment and Long-Term Outcomes.
GenesElevated intraocular pressure in a child with Stickler syndrome after scleral buckle surgery for retinal detachment.
Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and StrabismusRecurrent retinal detachment in Stickler Syndrome.
Eye (London, England)Retinal detachment in Type IX collagen recessive Stickler syndrome.
Eye (London, England)Pathobiology of the crystalline lens in Stickler syndrome.
Progress in retinal and eye researchNovel LOXL3-associated stickler syndrome-like phenotype: a case report.
Ophthalmic geneticsA Novel COL2A1 Gene Pathogenic Variant in a Turkish Family With Ocular Stickler Syndrome.
Journal of pediatric ophthalmology and strabismusPeripapillary Hyperreflective Ovoid Mass-Like Structures in Stickler Syndrome.
Ophthalmology. RetinaUnraveling the genetic collagen connection: clinical and therapeutic insights on genetic connective tissue disorders.
Advances in rheumatology (London, England)Utilization of Anti-obesity Medications After Bariatric Surgery: Analysis of a Large National Database.
Obesity surgery[Spontaneously reattached bilateral retinal detachment in Stickler syndrome].
Journal francais d'ophtalmologieOutcomes of rhegmatogenous retinal detachment surgery in patients with Stickler syndrome.
Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle OphthalmologieMicrophthalmia and congenital cataract in two patients with Stickler syndrome type II: a case report.
Ophthalmic geneticsAnesthetic Management of a Cesarean Section for Preeclampsia in a Parturient With Stickler Syndrome: A Case Report.
CureusClinical and genetic risk factors underlying severe consequence identified in 75 families with unilateral high myopia.
Journal of translational medicineMultiocular defect in the Old English Sheepdog: A canine form of Stickler syndrome type II associated with a missense variant in the collagen-type gene COL11A1.
PloS oneExome sequencing-aided precise diagnosis of four families with type I Stickler syndrome.
Molecular genetics & genomic medicineMultidisciplinary approach to inherited causes of dual sensory impairment.
Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle OphthalmologieCharacteristics of a Three-Generation Family with Stickler Syndrome Type I Carrying Two Different COL2A1 Mutations.
GenesUse of vitreous phenotype as a key clinical marker to identify Ocular-only Stickler syndrome in a family with Marfan syndrome.
European journal of ophthalmologyCambridge Prophylactic Protocol, Retinal Detachment, and Stickler Syndrome.
The New England journal of medicineLegg-Calve-Perthes' disease: an opportunity to prevent blindness?
Archives of disease in childhoodRetinal Detachment Prophylaxis for Patients With Stickler Syndrome: A Survey of Pediatric Retinal Specialist Treatment Preferences.
Ophthalmic surgery, lasers & imaging retinaLEPREL1 -RELATED GIANT RETINAL TEAR DETACHMENTS MIMIC THE PHENOTYPE OF OCULAR STICKLER SYNDROME.
Retina (Philadelphia, Pa.)Window of Susceptibility to Acute Otitis Media Infection.
PediatricsProgressive degeneration of the retina in Loxl3 mutant mouse model of Stickler syndrome.
Developmental biologyLong-term anatomical and functional outcomes of surgical treatment of retinal complications in children and adolescents with Stickler syndrome between 2004 and 2021.
Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle OphthalmologieSudden Refusal to Walk in a Child with Stickler Syndrome.
Pediatrics in reviewThe Incidence of Velopharyngeal Insufficiency in Stickler Syndrome.
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial AssociationSyndromes associated with Robin sequence: a national prospective cohort study.
Archives of disease in childhoodLASER PROPHYLAXIS IN STICKLER SYNDROME: The Manchester Protocol.
Retina (Philadelphia, Pa.)Hearing Loss in Stickler Syndrome: An Update.
GenesRetinal Detachments in Stickler Syndrome.
Ophthalmic surgery, lasers & imaging retinaAssociation of EFEMP1 with juvenile-onset open angle glaucoma in a patient with concomitant COL11A1-related Stickler syndrome.
Ophthalmic geneticsPrevention of Blindness in Stickler Syndrome.
GenesAutosomal Recessive Stickler Syndrome.
GenesPhacolytic Glaucoma in an Adult with Stickler Syndrome.
Ophthalmology. Glaucoma[Ultrasonographic manifestation and genetic analysis of a fetus with Stickler syndrome].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical geneticsGenetic testing in four Indian families with suspected Stickler syndrome.
Indian journal of ophthalmologyDominant Stickler Syndrome.
GenesSevere foveal hypoplasia and macular degeneration in Stickler syndrome caused by missense mutation in COL2A1 gene.
Ophthalmic geneticsPreventing Retinal Detachment in Patients with Stickler Syndrome: The Effects of Preemptive Laser Photocoagulation.
Ophthalmology. RetinaIdentification of three novel homozygous variants in COL9A3 causing autosomal recessive Stickler syndrome.
Orphanet journal of rare diseasesA Novel missense mutation of COL2A1 gene in a large family with stickler syndrome type I.
Journal of cellular and molecular medicineRisk and Prevention of Retinal Detachments in Patients with Stickler Syndrome.
Ophthalmic surgery, lasers & imaging retinaLaser Prophylaxis in Patients with Stickler Syndrome.
Ophthalmology. RetinaGenetic Characteristics and Phenotype of Korean Patients with Stickler Syndrome: A Korean Multicenter Analysis Report No. 1.
GenesStickler syndrome - lessons from a national cohort.
Eye (London, England)THE PROPHYLAXIS OF FELLOW-EYE RETINAL DETACHMENT IN STICKLER SYNDROME: A RETROSPECTIVE SERIES.
Retina (Philadelphia, Pa.)Hypoplasic Vitreous in Stickler Syndrome.
JAMA ophthalmologyCase report of the first molecular diagnosis of Stickler syndrome with a pathogenic COL2A1 variant in a Mongolia family.
Molecular genetics & genomic medicinePleiotropy of a Stickler syndrome genotype.
European journal of ophthalmologyCleft palate morphology, genetic etiology, and risk of mortality in infants with Robin sequence.
American journal of medical genetics. Part AHearing Outcomes in Stickler Syndrome: Variation Due to COL2A1 and COL11A1.
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial AssociationIncidence of mandibular distraction osteogenesis in Stickler Syndrome: Variation due to COL2A1 and COL11A1.
International journal of pediatric otorhinolaryngologyFAMILIAL EXUDATIVE VITREOTINOPATHY-LIKE FEATURES IN STICKLER TYPE IV ASSOCIATED WITH NOVEL VARIANTS IN COL9A1.
Retinal cases & brief reportsGenetic testing results of children suspected to have Stickler syndrome type collagenopathy after ocular examination.
Molecular genetics & genomic medicineChallenging Diagnosis of Stickler Syndrome in a Patient with Premature Osteoarthritis: A Case Report.
JBJS case connectorA novel de novo mutation in COL2A1 gene associated with fetal skeletal dysplasia.
Taiwanese journal of obstetrics & gynecologyGeneration and characterization of human induced pluripotent stem cells line JLUEYEi001-A from a 45 year old female with Stickler syndrome.
Stem cell researchClinical and genetic characterization of autosomal recessive stickler syndrome caused by novel compound heterozygous mutations in the COL9A3 gene.
Molecular genetics & genomic medicineChoroidal and peripapillary changes in high myopic eyes with Stickler syndrome.
BMC ophthalmologyProgressive Visual Loss Without Retinal Detachment in Stickler Syndrome: An Uncommon and Novel Presentation.
Turkish journal of ophthalmologyAutosomal recessive Stickler syndrome associated with homozygous mutations in the COL9A2 gene.
Ophthalmic geneticsSurgical Management of Velopharyngeal Insufficiency Due to Unilateral Oropharyngeal Agenesis in a Patient With Stickler Syndrome.
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial AssociationBasedow-Graves' disease in a pediatric patient with Sticlker syndrome, a new endocrine finding to improve personalized treatment.
Italian journal of pediatricsLong-Term Follow-Up of Retinal Detachment Repair in Patients With Stickler Syndrome.
Ophthalmic surgery, lasers & imaging retinaAuditory dysfunction in type 2 Stickler Syndrome.
European archives of oto-rhino-laryngology : official journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck SurgeryDistinguishing Marshall from Stickler syndrome: a clinical and genetic challenge.
Clinical dysmorphologyMutation Spectrum and De Novo Mutation Analysis in Stickler Syndrome Patients with High Myopia or Retinal Detachment.
GenesULTRA-WIDE FIELD FUNDUS AUTOFLUORESCENCE IMAGING OF EYES WITH STICKLER SYNDROME.
Retina (Philadelphia, Pa.)Case Series of Stickler Syndrome Presenting With Acute Angle Closure.
Journal of glaucomaInherited and de novo biallelic pathogenic variants in COL11A1 result in type 2 Stickler syndrome with severe hearing loss.
Molecular genetics & genomic medicineVariable clinical expression of Stickler Syndrome: A case report of a novel COL11A1 mutation.
Molecular genetics & genomic medicineSurgical management in a severe OSA patient diagnosed with Stickler syndrome.
Auris, nasus, larynxPregnancy management in a patient with stickler syndrome.
Molecular genetics & genomic medicineExpanding the phenotype spectrum associated with pathogenic variants in the COL2A1 and COL11A1 genes.
Annals of human geneticsStickler Syndrome Genotype (COL2A1 mutation) with Retinitis Pigmentosa Phenotype.
Ophthalmology. RetinaOcular complications and prophylactic strategies in Stickler syndrome: a systematic literature review.
Ophthalmic geneticsA novel deep intronic COL2A1 mutation in a family with early-onset high myopia/ocular-only Stickler syndrome.
Ophthalmic & physiological optics : the journal of the British College of Ophthalmic Opticians (Optometrists)Analysis of Etiologic Factors in Pediatric Rhegmatogenous Retinal Detachment With Genetic Testing.
American journal of ophthalmologyMutation Spectrum of Stickler Syndrome Type I and Genotype-phenotype Analysis in East Asian Population: a systematic review.
BMC medical geneticsAssociated syndromes in patients with Pierre Robin Sequence.
International journal of pediatric otorhinolaryngologyOrofacial Manifestations of Stickler Syndrome: An Analysis of Speech Outcome and Facial Growth After Cleft Palate Repair.
Annals of plastic surgeryStickler Syndrome: Airway Complications in a Case Series of 502 Patients.
Anesthesia and analgesiaElectroretinograms of eyes with Stickler syndrome.
Documenta ophthalmologica. Advances in ophthalmologyNext-generation sequencing-aided precise diagnosis of Stickler syndrome type I.
Acta ophthalmologicaLOXL3 Function Beyond Amino Oxidase and Role in Pathologies, Including Cancer.
International journal of molecular sciencesStickler syndrome: exploring prophylaxis for retinal detachment.
Current opinion in ophthalmologyPathogenic variants in PLOD3 result in a Stickler syndrome-like connective tissue disorder with vascular complications.
Journal of medical geneticsHomozygous Type IX collagen variants (COL9A1, COL9A2, and COL9A3) causing recessive Stickler syndrome-Expanding the phenotype.
American journal of medical genetics. Part ABrittle cornea syndrome: Disease-causing mutations in ZNF469 and two novel variants identified in a patient followed for 26 years.
Biomedical papers of the Medical Faculty of the University Palacky, Olomouc, CzechoslovakiaBilateral Retinal Detachment in a Pediatric Patient.
The Journal of emergency medicineStickler syndrome: a possible presentation of Pierre Robin sequence.
BMJ case reportsHeritable disorders of connective tissue: Description of a data repository and initial cohort characterization.
American journal of medical genetics. Part AMarshall and stickler syndrome in one family.
Ceska a slovenska oftalmologie : casopis Ceske oftalmologicke spolecnosti a Slovenske oftalmologicke spolecnostiBone morphogenetic protein 4 (BMP4) loss-of-function variant associated with autosomal dominant Stickler syndrome and renal dysplasia.
European journal of human genetics : EJHGPathogenic gene screening in 91 Chinese patients with short stature of unknown etiology with a targeted next-generation sequencing panel.
BMC medical geneticsAutosomal recessive Stickler syndrome resulting from a COL9A3 mutation.
American journal of medical genetics. Part ALOXL3 novel mutation causing a rare form of autosomal recessive Stickler syndrome.
Clinical geneticsContribution of three-dimensional ultrasound and three-dimensional helical computed tomography to prenatal diagnosis of Stickler syndrome.
Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and GynecologyPhenotypic characterization of patients with early-onset high myopia due to mutations in COL2A1 or COL11A1: Why not Stickler syndrome?
Molecular visionClinical diagnosis of Larsen syndrome, Stickler syndrome and Loeys-Dietz syndrome in a 19-year old male: a case report.
BMC medical geneticsThe uncommon occurrence of two common inherited disorders in a single patient: a mini case series.
Ophthalmic geneticsRetinal detachment and infantile-onset glaucoma in Stickler syndrome associated with known and novel COL2A1 mutations.
Ophthalmic geneticsTargeted next‑generation sequencing identifies two novel COL2A1 gene mutations in Stickler syndrome with bilateral retinal detachment.
International journal of molecular medicineStickler syndrome in children: a radiological review.
Clinical radiology[Association of macular coloboma and Pierre Robin sequence; could it be Stickler syndrome?].
Journal francais d'ophtalmologieGenetic variant of Stickler's syndrome.
Archivos de la Sociedad Espanola de OftalmologiaA novel mutation in the COL2A1 gene in a patient with Stickler syndrome type 1: a case report and review of the literature.
Journal of medical case reportsType I membranous anomaly in Stickler syndrome.
Ophthalmic geneticsEndoplasmic Reticulum Stress and Unfolded Protein Response in Cartilage Pathophysiology; Contributing Factors to Apoptosis and Osteoarthritis.
International journal of molecular sciencesFoveal Hypoplasia in Patients with Stickler Syndrome.
OphthalmologyOsteoporosis in Stickler syndrome. A new family case with bone histology study.
Morphologie : bulletin de l'Association des anatomistesReduced penetrance in a large Caucasian pedigree with Stickler syndrome.
Ophthalmic geneticsRetinal Detachment in a Combined Case of Stickler Syndrome and X-Linked Retinoschisis.
Ophthalmic surgery, lasers & imaging retinaStickler Syndrome Type 1 with Short Stature and Atypical Ocular Manifestations.
Case reports in pediatricsMutation survey and genotype-phenotype analysis of COL2A1 and COL11A1 genes in 16 Chinese patients with Stickler syndrome.
Molecular visionAssociated systemic and ocular disorders in patients with congenital unilateral cataracts: the Infant Aphakia Treatment Study experience.
Eye (London, England)Cephalometrics in Stickler syndrome: Objectification of the typical facial appearance.
Journal of cranio-maxillo-facial surgery : official publication of the European Association for Cranio-Maxillo-Facial SurgeryAuditory phenotype in Stickler syndrome: results of audiometric analysis in 20 patients.
European archives of oto-rhino-laryngology : official journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck SurgeryTwo Likely Pathogenic Variants of COL2A1 in Unrelated Korean Patients With Ocular-Only Variants of Stickler Syndrome: The First Molecular Diagnosis in Korea.
Annals of laboratory medicineThe expanding spectrum of COL2A1 gene variants IN 136 patients with a skeletal dysplasia phenotype.
European journal of human genetics : EJHGUse of External Distractors and the Role of Imaging Prior to Mandibular Distraction in Infants With Isolated Pierre Robin Sequence and Stickler Syndrome.
JAMA facial plastic surgeryWhen flexibility is not necessarily a virtue: a review of hypermobility syndromes and chronic or recurrent musculoskeletal pain in children.
Pediatric rheumatology online journalGiant premacular bursa: a novel finding of the posterior vitreous in two patients with Stickler syndrome type 1 revealed by swept-source optical coherence tomography.
Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle OphthalmologieArthritis in Stickler syndrome: Inflammatory or degenerative?
International journal of rheumatic diseasesEtiology and pathogenesis of robin sequence in a large Dutch cohort.
American journal of medical genetics. Part APerioperative management of 19 infants undergoing glossopexy (tongue-lip adhesion) procedure: a retrospective study.
Paediatric anaesthesiaStickler syndrome. Epidemiology of retinal detachment.
Archivos de la Sociedad Espanola de OftalmologiaStickler syndrome associated with epilepsy: report of three cases.
European journal of pediatricsNon-ocular Stickler syndrome with a novel mutation in COL11A2 diagnosed by massively parallel sequencing in Japanese hearing loss patients.
The Annals of otology, rhinology, and laryngologyLOXL3, encoding lysyl oxidase-like 3, is mutated in a family with autosomal recessive Stickler syndrome.
Human geneticsA 360° giant retinal tear in Stickler syndrome.
JAMA ophthalmologyAssociações
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Ainda não existe comunidade no Raras para Síndrome de Stickler tipo 1
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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.
- Prenatal Molecular Diagnosis of COL2A1-Associated Stickler Syndrome: Genotype-Phenotype Correlation in a Resource-Limited Healthcare Setting.
- Comprehensive in silico analysis of genetic landscape and pathways involved in Stickler syndrome.
- Three New Cases of Autosomal Recessive Stickler Syndrome due to Biallelic Variants in the LOXL3 Gene.
- Early-Onset Ocular Presentation in Stickler Syndrome Type 1 Due to a COL2A1 Frameshift Variant.
- Genotype-Phenotype Correlations of COL2A1 and COL11A1 Patients.
- Axial length, myopia progression, and myopic maculopathy in Stickler syndrome.
- Characteristics of Hearing Loss in Patients with COL2A1 Gene Variants (Sticker Syndrome Type 1).
- Type II Collagen Disorders Overview.
- A Novel COL2A1 Gene Pathogenic Variant in a Turkish Family With Ocular Stickler Syndrome.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:90653(Orphanet)
- OMIM OMIM:108300(OMIM)
- MONDO:0007160(MONDO)
- GARD:5018(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Q55345651(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
