Doença genética sistêmica ou reumatológica rara caracterizada por anomalias cutâneas de início infantil (como cicatrização retardada de feridas com cicatrizes atróficas e alopecia leve com cabelos secos e quebradiços), degeneração do bastão da retina com cegueira noturna, miopatia degenerativa com fraqueza muscular, mialgia e cãibras, osteoartrite, frouxidão articular, prolapso de órgãos internos, síndrome do rim flutuante, síndrome de má absorção e hipotireoidismo. Foi relatado que o fenótipo é mais grave em mulheres do que em homens. Este é um caso de uso n-de-1 em que apenas um paciente ou família foi descrito com esse transtorno.
Introdução
O que você precisa saber de cara
Doença genética sistêmica ou reumatológica rara caracterizada por anomalias cutâneas de início infantil (como cicatrização retardada de feridas com cicatrizes atróficas e alopecia leve com cabelos secos e quebradiços), degeneração do bastão da retina com cegueira noturna, miopatia degenerativa com fraqueza muscular, mialgia e cãibras, osteoartrite, frouxidão articular, prolapso de órgãos internos, síndrome do rim flutuante, síndrome de má absorção e hipotireoidismo. Foi relatado que o fenótipo é mais grave em mulheres do que em homens. Este é um caso de uso n-de-1 em que apenas um paciente ou família foi descrito com esse transtorno.
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
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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
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. Padrão de herança: Autosomal dominant.
Binding to cells via a high affinity receptor, laminin is thought to mediate the attachment, migration and organization of cells into tissues during embryonic development by interacting with other extracellular matrix components. Plays a role in the regulation of skeletogenesis, through a mechanism that involves integrin-mediated signaling and PTK2B/PYK2 (PubMed:33242826)
Secreted, extracellular space, extracellular matrix, basement membrane
Nephrotic syndrome 26
A form of nephrotic syndrome, a renal disease clinically characterized by severe proteinuria, resulting in complications such as hypoalbuminemia, hyperlipidemia and edema. Kidney biopsies show non-specific histologic changes such as focal segmental glomerulosclerosis and diffuse mesangial proliferation. Some affected individuals have an inherited steroid-resistant form that progresses to end-stage renal failure. NPHS26 is an autosomal recessive form characterized by onset of proteinuria in the first months or years of life. Some patients respond to steroids, whereas others show steroid resistance and progression to end-stage renal disease.
Variantes genéticas (ClinVar)
131 variantes patogênicas registradas no ClinVar.
Classificação de variantes (ClinVar)
Distribuição de 1 variantes classificadas pelo ClinVar.
Vias biológicas (Reactome)
9 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 multissistêmica LAMA5-relacionada
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
Pesquisa e ensaios clínicos
Nenhum ensaio clínico registrado para esta condição.
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Twin research and human genetics : the official journal of the International Society for Twin Studies[Neonatal-onset multisystem inflammatory disease in a neonate caused by a de novoNLRP3 variant].
Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatricsEvaluated the immune efficacy of a bivalent inactivated vaccine against post-weaning multisystemic wasting syndrome and mycoplasmal pneumonia of swine.
Research in veterinary scienceClinical and Molecular Characterization of Five Additional Individuals With SATB2-Associated Syndrome in Guangxi.
Biochemical geneticsGastrointestinal Symptoms in Kawasaki Disease and Multisystem Inflammatory Syndrome in Children.
Pediatric cardiologyInternational Clinical Evidence-based Guideline for Kleefstra Syndrome.
Genetics in medicine : official journal of the American College of Medical GeneticsShared autonomic phenotype of long COVID and myalgic encephalomyelitis/chronic fatigue syndrome.
PloS onePeripheral Signatures of Multidimensional Pathology in Symptomatic and Asymptomatic Creutzfeldt-Jakob Disease.
CNS neuroscience & therapeuticsA novel variant in SIAH1 associated with autosomal dominant Buratti-Harel syndrome.
Frontiers in neuroscienceRisk factors for sacrococcygeal pilonidal sinus: a systematic review and meta-analysis supplemented by genetic causal assessment.
Frontiers in surgeryExpanding the Genotype-Phenotype Correlation of Marden-Walker Syndrome due to PIEZO2 Gene Variants: A Case Report From Brazil.
American journal of medical genetics. Part ADistinguishing Leptospirosis from Other Causes of Acute Encephalitis Syndrome: Clinical Insights.
Annals of African medicineKawasaki Disease Versus Multisystem Inflammatory Syndrome in Children: Exploring the Complexities of Pediatric Cardiac Inflammatory Disorders.
Sage open pediatricsCase Report: Low cardiac output syndrome with multisystem complications following total repair of tetralogy of fallot.
Frontiers in pediatricsMultisystem Comorbidities Associated With Orofacial Dysfunction in the Appalachian Region: A Retrospective Analysis.
Plastic and reconstructive surgery. Global openNeuraltherapeutic Medicine in Post-Acute COVID-19 Vaccination Syndrome (PACVS): A Critical Review with a Case Report.
Restorative neurology and neuroscienceFrailty in Focus: A Scoping Review of Frailty Instruments from the Kidney Disease Aging Research Collaborative.
Clinical journal of the American Society of Nephrology : CJASNCowden Syndrome in Childhood: Gastrointestinal Involvement in a Multisystem Genetic Disorder-A Case Report.
Reports (MDPI)TAVI-in-TAVI in a patient with morquio syndrome: a case report.
European heart journal. Case reportsJoint association of cumulative workplace environmental exposures and shift work with long-term work-limiting health conditions: a prospective cohort study from the UK Biobank.
BMJ public healthThe effectiveness and acceptability of face-to-face rehabilitation for patients with Long Covid who were not hospitalised with their acute infection: a mixed-methods study comprising a randomised controlled trial (RCT) with embedded qualitative component.
TrialsHemiconvulsion-Hemiplegia-Epilepsy Syndrome Associated with SARS-CoV-2 Infection and a Heterozygous IRF3 Variant in a 10-month-old Girl: A Case Report.
NeuropediatricsPrevalence of Bodily Distress Syndrome and Prediction of Patient Outcomes: Cohort Study of 3762 Individuals With Persistent Pain.
European journal of pain (London, England)The Hepato-Cardio-Renal Axis in Cirrhosis: Hemodynamic and Mechanistic Insights, Diagnostic Biomarkers, and Expanding Therapeutic Horizons.
Discoveries (Craiova, Romania)Case Report: genotype-phenotype correlations in FLNA mutations: insights from a case of multisystem dysfunction.
Frontiers in geneticsAcute Soft Head Syndrome: A Case Report in Kuwait and a Clinical Framework for Management.
CureusRetinal Degeneration and Visual Outcomes in Patients With Bardet-Biedl Syndrome: Genotypic Influences From a Caribbean Cohort.
CureusAssociations between cardiovascular-kidney-metabolic syndrome staging and risks of all-cause and cardiovascular mortality: a systematic review and meta-analysis.
American journal of preventive cardiologyDrug Reaction With Eosinophilia and Systemic Symptoms (DRESS Syndrome) Manifesting With Pseudolymphoma Multisystemic Organ Involvement.
Clinical case reportsDiagnosis of Dual c- and p-ANCA Vasculitis Following SARS-CoV-2 Infection: A Case Report.
The American journal of case reportsClinical Manifestations and Genetic Insights Into Congenital Myasthenic Syndrome-22 in Pediatric Patients.
Pediatric neurologyImpaired function of Vγ9Vδ2 T cells in frail elderly.
Immunity & ageing : I & AMulti-omics profiling reveals CKM syndrome severity as a gradient risk factor for cancer: A prospective cohort study.
Metabolism: clinical and experimentalMultiple Endocrine Neoplasia Type 1 Presenting as Recurrent Overt Gastrointestinal Bleeding and Ulceration: A Diagnostic Challenge.
CureusUnraveling cardiac anomalies in pediatric neurofibromatosis type 1: insights and implications.
European journal of pediatricsClinical and Genotypic Spectrum of Twinkle-Related Disorders: Insights From a Multinational Cohort Study.
NeurologyPractical Interpretation of Bone Scintigraphy: Metastases, Fractures, and Beyond.
Radiographics : a review publication of the Radiological Society of North America, IncOrbital inflammation in VEXAS syndrome.
The British journal of ophthalmologyAssociações
Organizações que acompanham esta doença — pra ter apoio e orientação
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Comunidades
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Referências e fontes
Bases de dados externas citadas neste artigo
Publicações científicas
Artigos indexados no PubMed ligados a esta doença no grafo RarasNet — título, periódico e PMID direto da fonte, sem intermediação de IA.
- Pediatric COVID-19 in Korea: Lessons and Strategies for Future Disease-X Preparedness.
- MASLD as a systemic metabolic disease: expanding the scope of cardiovascular-kidney-metabolic (CKM) syndrome.
- Modeling Williams syndrome from a neurodevelopmental perspective: recent advances, model-based translational insights and future directions.
- Clinical, Neuroimaging and Video Electroencephalography Findings in Children With Congenital Zika Syndrome: An Analysis From a Neurorehabilitation Centre.International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience· 2026· PMID 41839214mais citado
- Case Report: Compound heterozygous mutations in the IDUA gene causing mucopolysaccharidosis type I with uterine developmental abnormality.
- Genomic newborn screening as a paradigm shift in rare disease management, with emphasis on endocrine conditions.
- De Novo RRAS2 Pathogenic Variant in a Fetus With Bilateral Radial Ray and Multisystem Anomalies.
- Case Report: a 28-year-old female patient presented with recurrent fevers and episodes of shock due to ZBTB24 pathogenic variant.
- Diagnostic genetic testing indications and findings in type II, IX and XI collagenopathies.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:521450(Orphanet)
- MONDO:0033856(MONDO)
- GARD:22146(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
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