Esta síndrome é caracterizada pela associação de déficit intelectual, catarata congênita e hipogonadismo hipogonadotrófico.
Introdução
O que você precisa saber de cara
Esta síndrome é caracterizada pela associação de déficit intelectual, catarata congênita e hipogonadismo hipogonadotrófico.
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
Encontrou um erro ou informação desatualizada? Sugira uma correção →
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
+ 21 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 83 características clínicas mais associadas, ordenadas por frequência.
Linha do tempo da pesquisa
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
2 genes identificados com associação a esta condição. Padrão de herança: Autosomal recessive.
Catalytic subunit of the Rab3 GTPase-activating (Rab3GAP) complex composed of RAB3GAP1 and RAB3GAP2, which accelerates the otherwise slow GTP hydrolysis catalyzed by Rab proteins (PubMed:9030515, PubMed:10859313, PubMed:39779760). Has GTPase-activating protein (GAP) activity towards various Rab3 subfamily members (RAB3A, RAB3B, RAB3C and RAB3D), RAB5A and RAB43 (PubMed:10859313, PubMed:9030515, PubMed:39779760). Additionally, it has guanine nucleotide exchange factor (GEF) activity towards RAB18
CytoplasmEndoplasmic reticulumGolgi apparatus, cis-Golgi network
Warburg micro syndrome 1
A rare, autosomal recessive syndrome characterized by microcephaly, microphthalmia, microcornia, congenital cataracts, optic atrophy, cortical dysplasia, in particular corpus callosum hypoplasia, severe intellectual disability, spastic diplegia, and hypogonadism.
Regulatory subunit of the Rab3 GTPase-activating (Rab3GAP) complex composed of RAB3GAP1 and RAB3GAP2, which accelerates the otherwise slow GTP hydrolysis catalyzed by Rab proteins (PubMed:9733780, PubMed:39779760). The complex has GTPase-activating protein (GAP) activity towards various Rab3 subfamily members (RAB3A, RAB3B, RAB3C and RAB3D), RAB5A and RAB43, and has guanine nucleotide exchange factor (GEF) activity towards RAB18 (PubMed:9733780, PubMed:39779760, PubMed:24891604). The Rab3GAP com
CytoplasmEndoplasmic reticulum
Martsolf syndrome 1
An autosomal recessive disease characterized by congenital cataracts, intellectual disability, and hypogonadism.
Variantes genéticas (ClinVar)
272 variantes patogênicas registradas no ClinVar.
Vias biológicas (Reactome)
2 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 catarata-transtorno do desenvolvimento intelectual-hipogonadismo
Centros de Referência SUS
13 centros habilitados pelo SUS para Síndrome de catarata-transtorno do desenvolvimento intelectual-hipogonadismo
Centros para Síndrome de catarata-transtorno do desenvolvimento intelectual-hipogonadismo
Detalhes dos centros
Hospital Infantil Albert Sabin
R. Tertuliano Sales, 544 - Vila União, Fortaleza - CE, 60410-794 · CNES 2407876
Serviço de Referência
Hospital de Apoio de Brasília (HAB)
AENW 3 Lote A Setor Noroeste - Plano Piloto, Brasília - DF, 70684-831 · CNES 0010456
Serviço de Referência
Hospital Estadual Infantil e Maternidade Alzir Bernardino Alves (HIABA)
Av. Min. Salgado Filho, 918 - Soteco, Vila Velha - ES, 29106-010 · CNES 6631207
Serviço de Referência
Hospital das Clínicas da UFMG
Av. Prof. Alfredo Balena, 110 - Santa Efigênia, Belo Horizonte - MG, 30130-100 · CNES 2280167
Serviço de Referência
Hospital Universitário João de Barros Barreto
R. dos Mundurucus, 4487 - Guamá, Belém - PA, 66073-000 · CNES 2337878
Serviço de Referência
Instituto de Medicina Integral Prof. Fernando Figueira (IMIP)
R. dos Coelhos, 300 - Boa Vista, Recife - PE, 50070-902 · CNES 0000647
Serviço de Referência
Hospital Pequeno Príncipe
R. Des. Motta, 1070 - Água Verde, Curitiba - PR, 80250-060 · CNES 3143805
Serviço de Referência
Hospital de Clínicas da UFPR
R. Gen. Carneiro, 181 - Alto da Glória, Curitiba - PR, 80060-900 · CNES 2364980
Serviço de Referência
Instituto Nacional de Saúde da Mulher, da Criança e do Adolescente Fernandes Figueira (IFF/Fiocruz)
Av. Rui Barbosa, 716 - Flamengo, Rio de Janeiro - RJ, 22250-020 · CNES 2269988
Serviço de Referência
Hospital de Clínicas de Porto Alegre (HCPA)
Rua Ramiro Barcelos, 2350 Bloco A - Av. Protásio Alves, 211 - Bloco B e C - Santa Cecília, Porto Alegre - RS, 90035-903 · CNES 2237601
Serviço de Referência
Hospital das Clínicas da FMUSP
R. Dr. Ovídio Pires de Campos, 225 - Cerqueira César, São Paulo - SP, 05403-010 · CNES 2077485
Serviço de Referência
Hospital de Clínicas da UNICAMP
R. Vital Brasil, 251 - Cidade Universitária, Campinas - SP, 13083-888 · CNES 2748223
Serviço de Referência
Hospital de Clínicas de Ribeirão Preto (HCRP-USP)
R. Ten. Catão Roxo, 3900 - Vila Monte Alegre, Ribeirão Preto - SP, 14015-010 · CNES 2082187
Serviço de Referência
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
1 pesquisa recrutando participantes. Converse com seu médico sobre a possibilidade de participar.
Outros ensaios clínicos
Publicações mais relevantes
Mostrando amostra de 200 publicações de um total de 7.533
Pediatric COVID-19 in Korea: Lessons and Strategies for Future Disease-X Preparedness.
A experiência da Coreia do Sul com a COVID-19 pediátrica demonstrou que, embora muitas crianças tenham sido infetadas (especialmente na onda Omicron), os casos graves foram raros. O país implementou rapidamente estratégias focadas nas crianças, como vigilância para síndrome inflamatória multissistémica, isolamento domiciliar para casos leves, acompanhamento de pais em hospitais e uma política de vacinação voluntária com foco inicial em grupos de risco. Essas ações sublinham a importância de desenvolver abordagens pediátricas específicas para futuras pandemias, considerando a saúde, o bem-estar e a educação das crianças.
🇧🇷 traduzidoLessons From the Coronavirus Disease 2019 Pandemic: Implications for Antimicrobial Stewardship for COVID-19 Management.
A pandemia de COVID-19 resultou em um uso excessivo e frequentemente desnecessário de antibióticos, mesmo com baixas taxas de coinfecção bacteriana, exacerbando a ameaça da resistência antimicrobiana (RAM). Para médicos e pacientes, é crucial adotar uma gestão mais rigorosa de antimicrobianos, utilizando diagnósticos precisos para evitar o uso indevido de antibióticos. A vacinação contra a COVID-19 também é importante, pois indiretamente reduz a necessidade de antibióticos e a RAM ao diminuir a incidência de doenças graves e infecções bacterianas secundárias.
🇧🇷 traduzidoSequential sequencing reveals the architecture and complexity of genomic variants in patients with Alport syndrome.
Primeiramente, é importante notar que o título e o resumo fornecidos são sobre a **Síndrome de Alport**, e não sobre a Síndrome de Catarata-Deficiência Intelectual-Hipogonadismo. Com base no resumo da Síndrome de Alport: Este estudo demonstra que o uso de sequenciamento genético avançado (além do padrão) é essencial para um diagnóstico mais completo e preciso da Síndrome de Alport, identificando variantes genéticas complexas e "escondidas" que não seriam detectadas de outra forma. Isso significa que pacientes e médicos agora têm ferramentas mais robustas para diagnosticar a doença em quase todos os casos, incluindo mutações não codificantes ou estruturais antes negligenciadas. Em última análise, essa abordagem aprimora significativamente o entendimento genético da Síndrome de Alport e pode servir de modelo para o diagnóstico de outras doenças hereditárias.
🇧🇷 traduzidoAntibiotics in the first week of life are not associated with functional gastrointestinal disorders at 9-12 years of age.
Este estudo tranquiliza pais e médicos ao indicar que o uso de antibióticos na primeira semana de vida **não está associado** ao desenvolvimento de distúrbios gastrointestinais funcionais (DGIFs) em crianças na idade escolar (9-12 anos). Da mesma forma, cólicas infantis também não se mostraram um fator preditor para esses distúrbios. No entanto, o estudo revelou que crianças com alergias alimentares são **significativamente mais propensas** a apresentar síndromes de dor abdominal funcional.
🇧🇷 traduzidoTyrosine Hydroxylase Deficiency Impairs TH Axonal Transport, Brain Function, and Neuronal Plasticity.
A Deficiência de Tirosina Hidroxilase (THD) é uma doença genética rara que causa distonia e parkinsonismo infantil, resultante de uma produção insuficiente de dopamina. Este estudo revela que o problema central não é a morte neuronal, mas sim um transporte defeituoso da enzima tirosina hidroxilase dentro dos neurônios, o que leva a baixos níveis de dopamina e desequilíbrios em circuitos cerebrais cruciais. A boa notícia para pacientes e médicos é que o cérebro desenvolve mecanismos compensatórios (plasticidade neuronal) e, crucialmente, não há degeneração dos neurônios, o que impacta positivamente o entendimento do prognóstico e o desenvolvimento de novas estratégias terapêuticas.
🇧🇷 traduzidoPublicações recentes
Abduction-Release Sign in Heavy Eye Syndrome.
Anti-GQ1b-Positive Miller Fisher Syndrome Following Pfizer Bivalent COVID-19 Vaccination.
A review of chronic enterocolitis of rhesus macaques (Macaca mulatta) and potential as a naturally occurring model for post-infectious irritable bowel syndrome.
Ophthalmic manifestations and management of Traboulsi syndrome in three children of a Saudi family.
Potential mechanisms of the glucocorticoid withdrawal syndrome.
📚 EuropePMCmostrando 194
Improved Outcomes with Total Contact Cast After non-Ischemic Mixed Diabetic Foot Attack with Necrotizing Fasciitis and Compartment Syndrome: A Clinical Evaluation.
The international journal of lower extremity woundsOn the Origin of the Brain Semi-Heavy Water Deuterium MR Signal Following Administration of Deuterated Metabolic Substrate: A Cautionary Tale.
Magnetic resonance in medicineEngineering Resatorvid-Loaded Sub-Microgels of Epigallocatechin-3-gallate/Hyaluronic Acid to Treat Acute Lung Injury.
Advanced healthcare materialsMicrobiome-derived signaling molecules and the brain-gut axis: emerging mechanisms and clinical implications.
Current opinion in endocrinology, diabetes, and obesityHyper-oncotic albumin administration reduces mortality in acute Respiratory Distress Syndrome compared to crystalloid: a systematic review and meta-analysis.
Annals of medicinePediatric COVID-19 in Korea: Lessons and Strategies for Future Disease-X Preparedness.
Journal of Korean medical scienceLessons From the Coronavirus Disease 2019 Pandemic: Implications for Antimicrobial Stewardship for COVID-19 Management.
Journal of Korean medical scienceClinical and genetic basis of congenital gonadotropin deficiency.
Human reproduction openSerum Sickness After Cosmetic Botulinum Toxin Type A Injections.
Aesthetic surgery journal. Open forumElevated fecal calprotectin values appear more common following esophagogastric than colon surgery.
Journal of surgical case reportsBuilding the Optometry Workforce in Somalia: A Strategic Approach to Preventing Avoidable Blindness and Expanding Access to Vision Care.
Clinical optometryA Cost Analysis of Carpal Tunnel Procedures Performed in an Office Procedure Room Versus a Hospital Operating Room in a Rural Midwest Health System.
Plastic surgery (Oakville, Ont.)Sudden Cardiac Arrest in Proximal Femur Fracture: The Role of Admission Blood Parameters.
CureusEffects of GLP-1 Receptor Agonists vs Metformin in Polycystic Ovary Syndrome: A Systematic Review and Meta-Analysis.
CureusExtracorporeal Carbon Dioxide Removal (ECCO₂R) as a Bridge to Extracorporeal Membrane Oxygenation (ECMO) in Severe H1N1-Associated Acute Respiratory Distress Syndrome (ARDS) in Morbid Obesity: A Case From a Resource-Limited Hospital.
CureusBeyond Common Arrhythmias: Discovering Brugada Syndrome in a Patient With Nonspecific Symptoms.
CureusPremature Coronary Artery Disease and Familial Dyslipidemia in Patients Presenting With Acute Coronary Syndrome: A Tertiary Cardiac Center Registry.
CureusEffect of Lee Silverman Voice Treatment-BIG Intervention Versus Balance Training via Tele-rehabilitation on Balance and Functional Mobility Among Community-Dwelling Elderly: A Comparative Study.
CureusAnalysis of Laparoscopic and Transvaginal Ovarian Drilling on Polycystic Ovarian Syndrome: A Narrative Review of Outcomes.
CureusFamily-Based Interpretation of a Prenatally Detected 15q11.2 Duplication.
CureusFulminant Acute Chest Syndrome and Multiorgan Failure in Sickle Cell Disease With Chronic Hepatic Vasculopathy: A Fatal Synergy.
CureusSleep-Related Hypoventilation in a Patient With Ehlers-Danlos Syndrome.
CureusRespiratory Syncytial Virus Infection Triggering a Pulmonary Hypertensive Crisis in a Boy With Prader-Willi Syndrome-Associated Sleep-Disordered Breathing.
CureusHybrid Common Femoral Vein Endophlebectomy and Iliac Vein Stenting Versus Femoro-Femoral Venous Bypass for Management of Chronic Iliofemoral Venous Occlusion.
Journal of endovascular therapy : an official journal of the International Society of Endovascular SpecialistsPearson Syndrome: Diagnostic Challenges and a Case of Successful Haploidentical Hematopoietic Stem Cell Transplantation.
Pediatric blood & cancerComments on "The diagnostic potential of urinary volatile organic compounds for colorectal neoplasia in Lynch syndrome-A prospective longitudinal study".
International journal of cancer18F-Choline PET/CT Localization in a 20-Year Experience of Re-Operative Parathyroidectomy.
World journal of surgeryAssessing the sensitivity and the clinical impact of the 2023 ACR/EULAR classification criteria in Obstetric Antiphospholid Syndrome: findings from a multicenter Italian cohort with a long-term follow-up.
Arthritis care & researchEpileptiform patterns in electroencephalography and clinical myoclonic seizures predict unfavorable outcomes in patients after cardiac arrest: a meta-analysis protocol.
Systematic reviewsOxidative stress and the therapeutic potential of dietary antioxidants in polycystic ovary syndrome: a narrative review.
Journal of ovarian researchNorwood procedure with left coronary artery reimplantation for hypoplastic left heart syndrome combined with Anomalous left coronary artery from the right pulmonary artery: a case report.
General thoracic and cardiovascular surgery casesMultistage orthodontic-implantology-prosthetic treatment of a patient diagnosed with hypohidrosis ectodermal dysplasia syndrome with EDAR mutation: a case report.
BMC oral healthSyndromic surveillance systems to detect outbreaks of gastroenteritis in high-income countries: a scoping review.
BMC public healthPulmonary hemorrhage as an early clue: an integrated clinical-imaging-genetic diagnostic insight for vascular Ehlers-Danlos syndrome.
Orphanet journal of rare diseasesComparison of clinical, pathological and genomic characteristics between Lynch and non-Lynch patients with MMRd endometrial carcinoma.
BMC cancerAntenatal corticosteroid administration-to-delivery intervals and neonatal outcomes in late preterm labor: a historical cohort study.
BMC pregnancy and childbirthCraniocervical instability after inadvertent neck hyperextension in Ehlers-Danlos syndrome: a retrospective case series and literature review.
BMC neurologyReal-world data on toxic anterior segment syndrome.
Journal of cataract and refractive surgeryAppendiceal Goblet Cell Adenocarcinoma With Mismatch Repair Deficiency and Microsatellite Instability-High Status: A Novel Molecular Signature Guiding Immuno-Oncology Strategy.
Pathology internationalIntegrated single-cell and bulk transcriptomic analysis identifies epithelial cell-related biomarkers and immune subtypes in focal segmental glomerulosclerosis.
International urology and nephrologyMoral Injury in the DSM-5-TR: Syndrome Spectrum vs. Categorical Disorder.
Journal of religion and healthExon skipping to treat Rett syndrome.
Nature reviews. Drug discoveryDose-dependent effects of Alveofact with and without steroids on neutrophil extracellular traps in neonatal respiratory distress syndrome.
Pediatric researchEnhanced P-TEFb activity compromises dentate gyrus neurogenesis in mice.
The EMBO journalDevelopment of metabolic syndrome by increasingly fructose-enriched water in Wistar rats.
Journal of molecular histologyOverexpression of the TGF-β target CCN2 in megakaryocytes: a common feature of MDS with mutated SF3B1 : Uncovering novelinsights into the bone marrow microenvironment in MDS.
Virchows Archiv : an international journal of pathologyDeciphering the mechanisms underlying the dual-target inhibition of carbohydrate-digesting and neurodegenerative enzymes by Syzygium aromaticum (L.) Merr. & L.M. via molecular docking and dynamics simulations.
Scientific reportsEarly levothyroxine sodium administration and clinical outcomes in patients with sepsis: a MIMIC-IV database analysis.
Scientific reportsSequential sequencing reveals the architecture and complexity of genomic variants in patients with Alport syndrome.
Nature communicationsA cross-sectional analysis of metabolic syndrome and melanoma-specific risk in the US NHANES.
Journal of biomedical researchAntibiotics in the first week of life are not associated with functional gastrointestinal disorders at 9-12 years of age.
Journal of pediatric gastroenterology and nutritionTyrosine Hydroxylase Deficiency Impairs TH Axonal Transport, Brain Function, and Neuronal Plasticity.
Journal of inherited metabolic diseaseEpidemiology, Comorbidities, and Healthcare Costs of Prader-Willi Syndrome in South Korea Using the Korean National Health Insurance Service Database.
Journal of obesity & metabolic syndromeGenetic background and management outcomes in primary bilateral macronodular adrenal hyperplasia: Implications for diagnosis and treatment-A retrospective cohort study.
The Journal of international medical researchMechanisms and management of acute coronary syndromes.
European heart journalAnaesthetic management of a paediatric patient with Goldenhar syndrome for oral rehabilitation and palatoplasty.
BMJ case reportsSecond allogeneic stem cell transplantation for XMEN disease.
BMJ case reportsGenetically confirmed Dubin-Johnson syndrome presenting as long-standing isolated conjugated hyperbilirubinaemia.
BMJ case reportsASPH-related ectopia lentis revisited: genetic variability, clinical diversity, and evolving therapeutic approaches.
Ophthalmic geneticsComplete genetic and epigenetic architecture of D4Z4 macrosatellites in FSHD, BAMS, and reference cohorts with D4Z4End2End.
Genome researchA WHO global research priority agenda for wasting and nutritional oedema in infants and children under 5 years.
BMJ global healthClinical Diversity in Currarino Syndrome: Insights From Monozygotic Twins and a Single-Center Retrospective Study.
Congenital anomaliesVEXAS syndrome in adults: A narrative review of genomic pathogenesis, multisystem phenotypes, diagnostic algorithms, and emerging therapeutic strategies.
Autoimmunity reviewsNeuromelioidosis Causing Rapidly Progressing Neurological Syndromes Mimicking Stroke and Demyelination: Insights from a Case Series.
Travel medicine and infectious diseaseThree new ent-pimarane diterpenoids from Siegesbeckia pubescens and their anti-vascular endothelial injury activity.
FitoterapiaClinical and Biochemical Characteristics of Girls with Polycystic Ovary Syndrome presenting with Amenorrhea.
Journal of pediatric and adolescent gynecologySafety, Efficacy, and Outcomes of the Modified Rotational Atherectomy Approach: A Real-World Single-Center Experience.
Indian heart journalArtificial Intelligence Applications in COVID-19-Associated Coagulopathy: Lessons Learned.
Seminars in thrombosis and hemostasisAuthor Correction to: "Assessment of hormone measurement methods in girls with premature adrenarche, polycystic ovary syndrome, and non-classical congenital adrenal hyperplasia." [Turk J Pediatr 2025; 67: 692-699.].
The Turkish journal of pediatricsPerspectives on "Assessment of hormone measurement methods in girls with premature adrenarche, polycystic ovary syndrome, and non-classical congenital adrenal hyperplasia".
The Turkish journal of pediatricsExploring the link between adenovirus infection and Guillain-Barré syndrome in children: a case-based analysis.
The Turkish journal of pediatricsNeuroblastoma-associated opsoclonus-myoclonus-ataxia syndrome: an important yet overlooked diagnosis in pediatric ataxia.
The Turkish journal of pediatricsPrognostic significance of serum apelin-13 and galectin-3 concentrations as potential indicators of severity and mortality in pediatric acute respiratory distress syndrome.
The Turkish journal of pediatricsFront-line systemic treatment outcomes in POEMS syndrome.
British journal of haematologyTruly elevated PTH or Ulysses syndrome?
Endocrinology, diabetes & metabolism case reportsEfficacy of JAK1/2 inhibitors in AGS genes-related interferonopathies: A multicenter retrospective observational study with treated vs untreated comparison.
Molecular genetics and metabolismBertolotti joint-related cyst: illustrative case.
Journal of neurosurgery. Case lessonsImprovement in spinopelvic parameters after laminectomy and complete factectomies above prior fusion facilitated by posterior arthroplasty: illustrative case.
Journal of neurosurgery. Case lessonsA Dissecting Pulmonary Aneurysm Complicating Eisenmenger Syndrome.
European heart journal. Cardiovascular ImagingTau pathology in epilepsy: emerging mechanisms and translational opportunities.
Brain : a journal of neurologyMalignant peripheral nerve sheath tumors arising in SMARCB1-associated schwannomatosis: illustrative cases.
Journal of neurosurgery. Case lessonsTargeted repair of a refractory ventral cerebrospinal fluid leak identified by dynamic computed tomography myelography: illustrative case.
Journal of neurosurgery. Case lessonsAcute declines in kidney function with thiazide plus loop diuretics vs loop diuretics alone in acute decompensated heart failure.
Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal AssociationWhen KDIGO Meets Frailty: Rethinking CKD Targets in Adults Aged 80 Years and Older.
American journal of nephrologyGrowth Guidance Surgery: Factors Associated With Complications.
SpineRespiratory syncytial virus - from discovery to vaccines.
Journal of medical microbiologyCost-utility and budget impact analyses of significant fibrosis detection in individuals with metabolic syndrome or obesity in Thailand.
PloS oneTime to initiate trophic feeding and predictors among preterm neonates admitted at General Hospitals in Tigray, 2025.
PloS oneThe effect of dumping syndrome severity on health-related quality of life among bariatric surgery patients in Saudi Arabia.
PloS oneA Lip Fixation Device Facilitates Labial Salivary Gland Biopsy for Sjögren's Disease.
Journal of visualized experiments : JoVELong COVID in children and adolescents: Incidence and clinical characteristics in Buenos Aires, 2021-2023.
Archivos argentinos de pediatriaAdjuvant camrelizumab for hepatocellular carcinoma patients with high risk of recurrence after curative hepatectomy: a retrospective multicenter study.
European journal of gastroenterology & hepatologyMucus Fishing Syndrome: Case Series and a Narrative Review of Literature.
Ophthalmology and therapyGuillain-Barré syndrome mimicking inflammatory myopathy with hyperCKemia and muscle MRI findings: a case report.
Acta neurologica BelgicaPatients' and family members' experiences with cascade testing for Lynch syndrome in the USA: a qualitative interview study.
Journal of community geneticsLinggui Yangyuan Paste for Male Infertility with Shen (Kidney) Deficiency and Blood Stasis Syndrome: A Multicenter, Double-Blind, Double-Dummy, Randomized Controlled Trial.
Chinese journal of integrative medicineUrsolic acid, a pentacyclic triterpene from Ochrosia elliptica Labill leaves and its role in the management of polycystic ovary syndrome (PCOS).
InflammopharmacologyRelationship between culprit lesion high-risk plaque features and adverse cardiovascular outcome at two years follow-up in patients with acute coronary syndrome. Insights from the OPTICO-ACS study.
The international journal of cardiovascular imagingMHC class II and PLA2R investigating the epitope presentation deficits driving antibody production in membranous nephropathy.
International urology and nephrologyPerfluorohexyloctane eye drops in treating dry eye disease associated with meibomian gland dysfunction: a post hoc analysis by baseline severity.
International ophthalmologyGenetic testing for hereditary breast and ovarian cancer in the Murcian population using a comprehensive NGS panel.
Familial cancerMyeloid dermatosis with features of sweet syndrome and leukemia cutis: a case report.
Annals of hematologyGATA2 Deficiency Syndrome: A Case Series and Literature Review.
Journal of clinical immunologyShort-term lesion-level impact of extensive LDL-C reduction with statins and PCSK9 inhibitors: a pre-specified subgroup analysis of the randomized FITTER trial.
Clinical research in cardiology : official journal of the German Cardiac SocietySilent complexity: a rare combination of polysplenia, cleft palate, retroaortic renal vein, and dorsal pancreatic agenesis.
Pediatric radiologySurviving Sepsis Campaign International Guidelines for the Management of Sepsis and Septic Shock in Children 2026.
Intensive care medicineA Retrospective Analysis of Dengue-associated Hemophagocytic Lymphohistiocytosis in a Dengue-endemic Country.
The Pediatric infectious disease journalImpact of Prematurity on Metabolic Maturation.
Journal of proteome researchHipE Study-Hip Embolization for Pain Control in Hip Osteoarthritis and Greater Trochanteric Pain Syndrome: 12 Months Follow-Up.
Cardiovascular and interventional radiologyAn unusual case of Kabuki Syndrome with retinal ischaemia and neovascular glaucoma.
European journal of ophthalmologyFrom patients to partners: Evaluating a co-designed website for congenital hypogonadotropic hypogonadism.
Endocrine connectionsDopamine agonist withdrawal syndrome - what do we really know?
Neurologia i neurochirurgia polskaFirst Case of Laparoscopic Cholecystectomy in a Patient with Situs Inversus Totalis in Ethiopia.
Journal of laparoendoscopic & advanced surgical techniques. Part AOptic Atrophy in Wolfram Syndrome Type 1: A Retrospective Analysis of Visual Outcomes and Biomarker Correlates.
Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology SocietyMalignant Catatonia and Neuroleptic Malignant Syndrome Overlap in the Emergency Department: Diagnostic Challenges and Psychopharmacology Considerations.
Journal of clinical psychopharmacologyComparing people with persisting post-concussion symptoms from an emergency department-based research sample with patients in a clinical rehabilitation sample: an explorative, retrospective analysis.
Journal of rehabilitation medicineMultifunctional ACE2-nanobody fusion design for pan-specific neutralization and cardiovascular protection in SARS coronavirus infection.
Antimicrobial agents and chemotherapyPediatric Myasthenia Gravis.
International ophthalmology clinicsUpdate on Congenital Cranial Dysinnervation Disorders (CCDDs).
International ophthalmology clinicsCongenital Optic Nerve Anomalies and Associated Systemic Conditions.
International ophthalmology clinicsTailored Charles' Procedure and Vascularized Lymph Node Transfer for Advanced Stage Klippel-Trenaunay Syndrome.
Acta chirurgica BelgicaMultimodal Functional Imaging in Tumor-induced Osteomalacia: 68Ga-DOTATATE, 18F-FDG, and 68Ga-FAPI PET/CT Findings.
Molecular imaging and radionuclide therapyBEACH domain-containing proteins: emerging roles in hematopoiesis and immune homeostasis.
Current opinion in hematologyOvarian Hormones Moderate Systolic Hypertension in Female Eln Haploinsufficient Mice.
American journal of physiology. Renal physiologyExecutive Summary: Surviving Sepsis Campaign International Guidelines for the Management of Sepsis and Septic Shock in Children 2026.
Pediatric critical care medicine : a journal of the Society of Critical Care Medicine and the World Federation of Pediatric Intensive and Critical Care SocietiesTherapeutic dissociation of CGRP-targeted treatments in migraine and complex regional pain syndrome.
Cephalalgia : an international journal of headacheDissociation Between Metabolic Improvements and Mitochondrial Transcriptional Changes Following Exercise Training in Women with Polycystic Ovary Syndrome.
American journal of physiology. Endocrinology and metabolismFirst Generation Proteolysis Targeting Chimeras (PROTACs) for the Treatment of Progeria.
Advanced science (Weinheim, Baden-Wurttemberg, Germany)A More Precise Description of the AKT2-Related Hypoinsulinemic Hypoglycemia and Overgrowth Syndrome Phenotype, Formerly Described Under the MORFAN Acronym.
American journal of medical genetics. Part AExtracellular vesicle miR-93-5p cargo regulates glomerular endothelial cell damage in Alport syndrome.
JCI insightPsychosocial issues of neonatal screening in the context of its major expansion: a scoping review.
Frontiers in psychologyExploratory observational study with Two-year outcomes of early in-hospital evolocumab in acute coronary syndrome patients undergoing coronary artery bypass grafting.
Frontiers in cardiovascular medicineA cohort study in Southern Xinjiang, China, 2018-2023 on the association of metabolic syndrome components and their interactions with cardiovascular disease risk.
Frontiers in cardiovascular medicineExpert consensus on acupuncture for diabetic foot.
American journal of clinical and experimental immunologyTraining and Integration of Eat, Sleep, Console Model for Infants and Families at an Urban Academic Health Center.
MedEdPORTAL : the journal of teaching and learning resourcesUpadacitinib for the Treatment of Systemic Immune Co-Morbidity in One Case: Alopecia Areata, Vitiligo, Ankylosing Spondylitis, and Allergic Rhinitis-Asthma - Multifaceted Control.
Clinical, cosmetic and investigational dermatologyIncomplete Ascher's Syndrome Misdiagnosed as Eczema: A Case Report.
Clinical, cosmetic and investigational dermatologyUnilateral orbital surgical emphysema following laparoscopic hiatal hernia repair and Nissen fundoplication: a case report.
Frontiers in surgeryUnexpected detection of clear cell sarcoma of soft tissue during single-channel endoscopic carpal tunnel release for recurrent carpal tunnel syndrome: a case report with literature review.
Frontiers in surgeryCellular signatures of immune dysregulation in inborn errors of immunity: development of a quantitative immune balance score.
Frontiers in immunologyGenetic determinants of arterial thrombosis in primary antiphospholipid syndrome: a systematic review.
Frontiers in immunologyThe transcription factor ZNF683 marks an exhaustion-like GZMB+CD8+ T cell in sepsis.
Frontiers in immunologyCase Report: Dual response to efgartigimod in myasthenia gravis and comorbid autoimmune disorders: a case series.
Frontiers in immunologyLactylation modification - a bridge between sepsis and macrophage metabolic reprogramming.
Frontiers in immunologyCase Report: Differential diagnosis and clinical management of isolated prolonged activated partial thromboplastin time.
Frontiers in immunologyReal-world safety profile of T-cell engagers: evidence from multi-database analysis with CAR-T comparisons.
Frontiers in immunologySpatial transcriptomic profiling identifies lacrimal-gland-epithelial cell-driven mechanisms underlying autoimmunity in Sjögren's disease.
Frontiers in immunologyRNA sequencing-derived gene co-expression and drug-gene interaction analysis reveal STAT1 as a potential therapeutic target in thrombotic antiphospholipid syndrome.
Frontiers in immunologyCell-type specificity of Tim-3 in respiratory diseases: from mechanisms to clinical translation.
Frontiers in immunologyPreoperative Considerations for Uterine Fibroid Removal in Patients With Mayer-Rokitansky-Küster-Hauser Syndrome and Klippel-Feil Syndrome: A Case Report.
CureusDevelopment of Carbon Dioxide Embolism During Partial Amniotic Carbon Dioxide Insufflation for Fetoscopic Laser Photocoagulation: A Case Report.
CureusPertussis-SARS-CoV-2 Co-infection in Infants at Mohammed VI University Hospital, Marrakech, Morocco.
CureusWhen Foot Drop Tells a Bigger Story: POEMS (Polyneuropathy, Organomegaly, Endocrinopathy, Monoclonal Plasma Cell Disorder, and Skin Changes) Syndrome Revealed by Femoral Plasmacytoma.
CureusChemotherapy and the Skin: Understanding Dermatologic Side Effects.
CureusOgilvie Syndrome: A Therapeutic Challenge.
CureusAtypical Polyneuropathy, Organomegaly, Endocrinopathy, Monoclonal Protein, and Skin Changes (POEMS) Syndrome.
CureusHypokalemic Periodic Paralysis: A Case Report of Acute Flaccid Quadriparesis Mimicking Guillain-Barré Syndrome.
CureusVaricella-Zoster Virus Infection in an Immunocompromised Patient With Seizure-Like Activity and Septic Shock: A Case Report.
CureusSurgical Risk Following Carpal Tunnel Release in Non-cirrhotic Non-alcoholic Fatty Liver Disease Versus Non-alcoholic Cirrhosis: A Propensity-Matched Analysis.
CureusExtracapillary Proliferation Superimposed on Primary Membranous Glomerulonephritis: A Case Report.
CureusLipodystrophies in Clinical Practice: A Case Series From a Local Health Unit in Portugal.
CureusSpatial and temporal dispersion of ventricular repolarization in pediatric patients with congenital long QT syndrome.
HeartRhythm case reportsUnique repolarization response after spontaneous nonsustained ventricular tachycardia.
HeartRhythm case reportsClinical Findings, Antibody Panel and Pathology of Patients with Inflammatory Myopathies in Isfahan Province, Iran.
Advanced biomedical researchSustained Lung Inflation in Preterm Infants with Signs of Respiratory Distress: A Randomized Controlled Trial.
Advanced biomedical researchEfficacy of Shenqi Eleven-Flavor Granules combined with electrothermal warm acupuncture in patients with "firm but not lasting" erectile dysfunction characterized by spleen-kidney deficiency: a single-center retrospective analysis.
American journal of translational researchIndependent predictors of long-term pulmonary function recovery in patients with acute respiratory distress syndrome: a meta-analysis.
American journal of translational researchTrousseau's syndrome with cerebral infarction as the first manifestation.
American journal of translational researchA gradient boosting machine model for predicting prognosis in patients with acute respiratory distress syndrome.
American journal of translational researchImpact of pediatric gastrointestinal disorders on learning and cognitive development in schoolchildren.
Annals of gastroenterologyConsensus statements of the Hellenic Autoimmune Liver Diseases Study Group on the diagnosis and current management of primary biliary cholangitis.
Annals of gastroenterologyBDNF genetic variants modulate the impact of childhood trauma on symptom dimensions in first-episode schizophrenia.
Frontiers in psychiatryLifestyle and Complementary Approaches to Polycystic Ovary Syndrome During Perimenopause and Menopause A Scoping Review.
American journal of lifestyle medicineSynergistic effects of combined breathing training and aerobic exercise on cardiopulmonary function in chronic heart failure: a systematic review and meta-analysis.
PeerJRestless legs syndrome and sleep quality in children with migraine and tension-type headache.
PeerJIliofemoral Venous Occlusion Due to Previous Intravenous Drug Abuse Crossed by Sharp Recanalization Technique With Endovascular Stenting: A Case Report.
Journal of the Society for Cardiovascular Angiography & InterventionsLipid Goal Achievement With Statins Among Statin-Naïve Indian Patients Undergoing Percutaneous Coronary Intervention.
Journal of the Society for Cardiovascular Angiography & InterventionsLate reconstruction of missed compartment syndrome after tibial plateau fixation surgery: A case report with 6 years of follow-up.
Orthopedic reviewsBouveret's syndrome complicated by iatrogenic esophageal perforation after endoscopic gallstone retrieval: a case report.
Journal of surgical case reportsDyskerin dysfunction in cancer development: from telomere dysregulation to immune deficiency.
American journal of cancer researchOvarian Sertoli-Leydig cell tumors with somatic DICER1 mutations: a clinicopathologic study of 15 cases.
American journal of cancer researchBrugada Syndrome Unmasked by Fever: A Rare Cause of ST-Segment Elevation.
Journal of acute medicinePneumomediastinum and Subcutaneous Emphysema as Initial Presentations of Pneumocystis Jirovecii Pneumonia in a Newly Diagnosed HIV-Infected Patient: A Case Report.
Journal of acute medicineClinical Characteristics and Factors Associated With Critical Illness and Mortality in Patients Hospitalized With COVID-19: A Retrospective Cohort Study in Taiwan.
Journal of acute medicineDiagnosis of Polycystic Ovary Syndrome With Predictive Modeling of Select Clinical Features.
O&G openPhysiologic Markers of Mortality in Acute Valve Syndrome: An Ischemic Physiology Score Stratifies Patient Risk.
Structural heart : the journal of the Heart TeamCandidate Genes for Non-Syndromic Pediatric Cataracts.
Clinical ophthalmology (Auckland, N.Z.)Lower fat-free mass is independently linked to restless legs syndrome in men: a cross-sectional PSG-BIA study.
Frontiers in neurologyGallbladder mucinous cystic neoplasm: Diagnostic challenges and multimodality imaging correlation.
Radiology case reportsArterial thoracic outlet syndrome due to a first-rib anomaly causing brachial artery embolic occlusion: a case report.
Radiology case reportsObstructive hydrocephalus secondary to an anterior mesencephalic cavernous malformation with familial cerebral cavernous malformation syndrome: A case report.
Radiology case reportsPelvic pain and a missing kidney: Unveiling OHVIRA syndrome with a tubo-ovarian abscess.
Radiology case reportsThe Hidden Perils of Allopurinol: A Systematic Review of Allopurinol-Induced DRESS (Drug Reaction With Eosinophilia and Systemic Symptoms) Syndrome.
CureusImplantable cardioverter-defibrillator utilization in coronary artery spasm: A case series of cardiac arrest survivors and a patient with typical angiography.
American heart journal plus : cardiology research and practiceAssociações
Organizações que acompanham esta doença — pra ter apoio e orientação
Ainda não temos associações cadastradas para Síndrome de catarata-transtorno do desenvolvimento intelectual-hipogonadismo.
É de uma associação que acompanha esta doença? Fale com a gente →
Comunidades
Grupos ativos de quem convive com esta doença aqui no Raras
Ainda não existe comunidade no Raras para Síndrome de catarata-transtorno do desenvolvimento intelectual-hipogonadismo
Pacientes, familiares e cuidadores se organizam em comunidades pra compartilhar experiências, fazer perguntas e se apoiar. Você pode ser o primeiro.
Tire suas dúvidas
Perguntas, dicas e experiências compartilhadas aqui na página
Participe da discussão
Faça login para postar dúvidas, compartilhar experiências e interagir com especialistas.
Fazer loginDoenças relacionadas
Doenças com sintomas parecidos — ajudam quem ainda está buscando diagnóstico
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.
- Pediatric COVID-19 in Korea: Lessons and Strategies for Future Disease-X Preparedness.
- Lessons From the Coronavirus Disease 2019 Pandemic: Implications for Antimicrobial Stewardship for COVID-19 Management.
- Sequential sequencing reveals the architecture and complexity of genomic variants in patients with Alport syndrome.
- Antibiotics in the first week of life are not associated with functional gastrointestinal disorders at 9-12 years of age.
- Tyrosine Hydroxylase Deficiency Impairs TH Axonal Transport, Brain Function, and Neuronal Plasticity.
- Abduction-Release Sign in Heavy Eye Syndrome.
- Anti-GQ1b-Positive Miller Fisher Syndrome Following Pfizer Bivalent COVID-19 Vaccination.
- A review of chronic enterocolitis of rhesus macaques (Macaca mulatta) and potential as a naturally occurring model for post-infectious irritable bowel syndrome.
- Ophthalmic manifestations and management of Traboulsi syndrome in three children of a Saudi family.
- Potential mechanisms of the glucocorticoid withdrawal syndrome.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:1387(Orphanet)
- OMIM OMIM:212720(OMIM)
- MONDO:8000008(MONDO)
- GARD:3406(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Q22965511(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
