Raras
Buscar doenças, sintomas, genes...
Síndrome multissistêmica LAMA5-relacionada
ORPHA:521450CID-10 · M79.8CID-11 · FB56.6DOENÇA RARA

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.

Mantido por Agente Raras·Colaborar como especialista →

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

CLASSIFICAÇÃO ORPHANET · BRASIL 2024
<1 / 1 000 000
Ultra-rara
<1/50k
Muito rara
1/20k
Rara
1/10k
Pouco freq.
1/5k
Incomum
1/2k
Prevalência
0.0
Worldwide
Casos conhecidos
11
pacientes catalogados
Início
Infancy
+ neonatal
🏥
SUS: Sem cobertura SUSScore: 0%
CID-10: M79.8
Você se identifica com essa condição?
O Raras está aqui pra te apoiar — com ou sem diagnóstico

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

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa1
Últimos 10 anos200publicações
Pico2026176 papers
Linha do tempo
2025Hoje · 2026
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

1 gene identificado com associação a esta condição. Padrão de herança: Autosomal dominant.

LAMA5Laminin subunit alpha-5Disease-causing germline mutation(s) inTolerante
FUNÇÃO

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)

LOCALIZAÇÃO

Secreted, extracellular space, extracellular matrix, basement membrane

VIAS BIOLÓGICAS (9)
MET activates PTK2 signalingDevelopmental Lineage of Pancreatic Ductal CellsAttachment of bacteria to epithelial cellsLaminin interactionsNon-integrin membrane-ECM interactions
MECANISMO DE DOENÇA

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.

EXPRESSÃO TECIDUAL(Ubíquo)
Cólon sigmoide
175.2 TPM
Artéria tibial
171.8 TPM
Cerebelo
127.8 TPM
Artéria coronária
127.2 TPM
Pulmão
125.9 TPM
OUTRAS DOENÇAS (4)
nephrotic syndrome, IIa 26bent bone dysplasia syndrome 2LAMA5-related multisystemic syndromefamilial idiopathic steroid-resistant nephrotic syndrome
HGNC:6485UniProt:O15230

Variantes genéticas (ClinVar)

131 variantes patogênicas registradas no ClinVar.

🧬 LAMA5: NM_005560.6(LAMA5):c.2093G>A (p.Cys698Tyr) ()
🧬 LAMA5: NM_005560.6(LAMA5):c.3559G>T (p.Val1187Phe) ()
🧬 LAMA5: NM_005560.6(LAMA5):c.8792G>A (p.Arg2931His) ()
🧬 LAMA5: NM_005560.6(LAMA5):c.6010G>A (p.Glu2004Lys) ()
🧬 LAMA5: NM_005560.6(LAMA5):c.2341_2342del (p.Arg781fs) ()
Ver todas no ClinVar

Classificação de variantes (ClinVar)

Distribuição de 1 variantes classificadas pelo ClinVar.

1
VUS (100.0%)
VARIANTES MAIS SIGNIFICATIVAS
LAMA5: NM_005560.6(LAMA5):c.616C>T (p.Arg206Cys) [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

Carregando informações de tratamento...

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.

🧪 Está conduzindo uma pesquisa?
Divulgue para pacientes e familiares que acompanham esta doença.
Divulgar pesquisa →

Publicações mais relevantes

Timeline de publicações
0 papers (10 anos)
#1

Pediatric COVID-19 in Korea: Lessons and Strategies for Future Disease-X Preparedness.

Journal of Korean medical science2026 Mar 23

O artigo científico fornecido é sobre a experiência da Coreia do Sul com a COVID-19 pediátrica e não sobre a síndrome multissistêmica relacionada à LAMA5. Com base no resumo *dado*, os pontos mais relevantes para pacientes e médicos são: A experiência da Coreia do Sul com a COVID-19 pediátrica revelou que, embora as crianças tivessem muitas infeções (especialmente na onda Omicron), as formas graves da doença eram raras. Para pacientes e médicos, as lições incluem a adaptação da vigilância para síndromes inflamatórias pediátricas (como o PIMS), a permissão de isolamento domiciliar para casos leves e o acompanhamento de cuidadores em hospitais. A vacinação foi introduzida progressivamente, e a Coreia demonstrou a importância de estratégias pediátricas específicas para a saúde, incluindo comunicação de risco e protocolos adaptados para futuras pandemias.

🇧🇷 traduzido
#2

MASLD as a systemic metabolic disease: expanding the scope of cardiovascular-kidney-metabolic (CKM) syndrome.

Science China. Life sciences2026 Mar 16

A Doença Hepática Gordurosa Associada à Disfunção Metabólica (MASLD) é uma condição hepática muito comum que impacta todo o corpo, elevando significativamente o risco de problemas cardiovasculares e renais devido a mecanismos metabólicos compartilhados. Este artigo aponta que a MASLD é frequentemente ignorada em contextos cardiológicos e nefrológicos e não está formalmente incluída na síndrome cardiovascular-renal-metabólica (CKM) atual. Para pacientes e médicos, o estudo propõe integrar a MASLD num modelo mais abrangente (cardiovascular-renal-hepático-metabólico ou CKLM). Isso permitiria uma identificação precoce através de exames simples, um cuidado multidisciplinar coordenado e o uso de terapias com benefícios comprovados para múltiplos órgãos, como certas novas medicações, visando melhorar os resultados clínicos e abordar a multimorbidade.

🇧🇷 traduzido
#3

Modeling Williams syndrome from a neurodevelopmental perspective: recent advances, model-based translational insights and future directions.

World journal of pediatrics : WJP2026 Mar 17

A Síndrome de Williams é uma doença genética que causa anomalias cardiovasculares, características faciais distintas e déficits neurodesenvolvimentais como hipersociabilidade e comprometimento cognitivo. Apesar de ainda não existirem terapias causativas, modelos animais e organoides cerebrais estão avançando a compreensão dos mecanismos subjacentes à doença. Contudo, abordagens diagnósticas e terapêuticas eficazes ainda não estão disponíveis, e a pesquisa contínua é crucial para o desenvolvimento de futuros tratamentos baseados nesses mecanismos.

🇧🇷 traduzido
#4

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 Neuroscience2026 Apr

Este estudo detalha que crianças com Síndrome Congênita do Zika (SCZ) apresentam problemas multisistêmicos graves, como epilepsia, incontinência, dificuldades de alimentação e irritabilidade, além de anomalias cerebrais significativas, incluindo redução do volume cerebral e depósitos de cálcio. Para pacientes e médicos, essas descobertas indicam que as crianças com SCZ enfrentarão limitações substanciais no desenvolvimento diário, motor e sociocognitivo, exigindo um acompanhamento e reabilitação abrangentes.

🇧🇷 traduzido
#5

Case Report: Compound heterozygous mutations in the IDUA gene causing mucopolysaccharidosis type I with uterine developmental abnormality.

Frontiers in pediatrics2026

Este artigo descreve um caso de Mucopolissacaridose tipo I (MPS I), uma doença genética rara causada por mutações no gene IDUA, que leva ao acúmulo de substâncias e afeta múltiplos sistemas do corpo. O relato foca numa paciente com a forma atenuada da doença (MPS I-S) que, além das alterações esqueléticas típicas, apresentou uma anomalia no desenvolvimento uterino. Embora a relação direta entre MPS I e problemas uterinos ainda não esteja comprovada, este caso sugere uma possível associação com anomalias no sistema reprodutor, ampliando o espectro de manifestações clínicas e alertando médicos e pacientes sobre o envolvimento multissistêmico da doença.

🇧🇷 traduzido

Publicações recentes

Ver todas no PubMed

📚 EuropePMCmostrando 198

2026

Pediatric COVID-19 in Korea: Lessons and Strategies for Future Disease-X Preparedness.

Journal of Korean medical science
2026

Fulminant Acute Chest Syndrome and Multiorgan Failure in Sickle Cell Disease With Chronic Hepatic Vasculopathy: A Fatal Synergy.

Cureus
2026

Respiratory Syncytial Virus Infection Triggering a Pulmonary Hypertensive Crisis in a Boy With Prader-Willi Syndrome-Associated Sleep-Disordered Breathing.

Cureus
2026

VEXAS syndrome in adults: A narrative review of genomic pathogenesis, multisystem phenotypes, diagnostic algorithms, and emerging therapeutic strategies.

Autoimmunity reviews
2026

Efficacy of JAK1/2 inhibitors in AGS genes-related interferonopathies: A multicenter retrospective observational study with treated vs untreated comparison.

Molecular genetics and metabolism
2026

When Foot Drop Tells a Bigger Story: POEMS (Polyneuropathy, Organomegaly, Endocrinopathy, Monoclonal Plasma Cell Disorder, and Skin Changes) Syndrome Revealed by Femoral Plasmacytoma.

Cureus
2026

Lipodystrophies in Clinical Practice: A Case Series From a Local Health Unit in Portugal.

Cureus
2026

Role of Growth Hormone and Insulin-Like Growth Factor-1 in Modulating Disease Severity in Children with COVID-19 and Multisystem Inflammatory Syndrome.

Infection and drug resistance
2026

Hypertrophic Cardiomyopathy as a Key Feature of MRAS-Related Noonan Syndrome: New Case and Comprehensive Literature Review.

Prenatal diagnosis
2026

Genomic newborn screening as a paradigm shift in rare disease management, with emphasis on endocrine conditions.

Annales d'endocrinologie
2026

De Novo RRAS2 Pathogenic Variant in a Fetus With Bilateral Radial Ray and Multisystem Anomalies.

Prenatal diagnosis
2026

Case Report: a 28-year-old female patient presented with recurrent fevers and episodes of shock due to ZBTB24 pathogenic variant.

Frontiers in immunology
2026

Diagnostic genetic testing indications and findings in type II, IX and XI collagenopathies.

Journal of medical genetics
2026

MASLD as a systemic metabolic disease: expanding the scope of cardiovascular-kidney-metabolic (CKM) syndrome.

Science China. Life sciences
2026

Psychiatric comorbidity in DiGeorge association: Suicidal ideation and bipolar disorder.

Journal of mood and anxiety disorders
2026

Fat Embolization Syndrome in Sickle Cell Disease: A Case Report.

Cureus
2026

Case Report: Transient severe T cell lymphopenia in a patient with Cornelia de Lange Syndrome captured by TREC screening.

Frontiers in immunology
2026

Checkerboard Hyperkeratosis With Apoptotic Keratinocytes as Features of Mechanic's Hands and Review of the Literature.

The American Journal of dermatopathology
2025

Beyond the basics: exploring non-conventional treatment for fatigue in post-acute COVID-19 syndrome.

La Tunisie medicale
2026

Papilledema and Pseudopapilledema in Alagille Syndrome: A Case Report.

Neuro-ophthalmology (Aeolus Press)
2026

Calcium supplementation for prevention of pre-eclampsia in high-risk women: study protocol for a randomised triple-blind placebo-controlled trial (CaPE).

Trials
2026

Modeling Williams syndrome from a neurodevelopmental perspective: recent advances, model-based translational insights and future directions.

World journal of pediatrics : WJP
2025

[Kawasaki Disease and Pediatric Multisystem Inflammatory Syndrome in the Aftermath of the Pandemic].

Andes pediatrica : revista Chilena de pediatria
2026

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

Case Report: Compound heterozygous mutations in the IDUA gene causing mucopolysaccharidosis type I with uterine developmental abnormality.

Frontiers in pediatrics
2026

Prognostic models of multisystem inflammatory syndrome severity according to resource availability in healthcare facilities in Ukraine.

Frontiers in pediatrics
2026

Atypical typhoid fever with pancytopenia, electrolyte imbalance, cholestatic hepatitis, and pleural effusion in an adolescent: a case report.

International journal of surgery case reports
2026

Therapy for Myhre Syndrome: Goals, Misconceptions, and Current Agents.

American journal of medical genetics. Part C, Seminars in medical genetics
2026

[Cockayne syndrome: peculiarities of clinical manifestations and algorithm of observation in childhood].

Problemy endokrinologii
2026

Clinical-genetic features of the TBCE-related spectrum disorders: A focus on the childhood-onset neurodegenerative phenotype.

Molecular genetics and metabolism
2026

Bardet-Biedl syndrome in two sibling pairs: a case series.

Journal of medical case reports
2026

Clinical Presentation and Diagnostic Challenges of Congenital Thoracoabdominal Wall Defects in Dogs: Insights from a Case Series and Literature Synthesis.

Animals : an open access journal from MDPI
2026

Minimal correlation but complementary diagnostic utility for plasma cell-free RNA and proteins.

Communications medicine
2026

Prevalence and influence of cardiovascular kidney metabolic syndrome on outcomes after transcatheter aortic valve implantation.

European journal of heart failure
2026

Motor Neuronopathy With Widespread Fasciculations in MCM3AP-Related Disorder: Clinical and Muscle MRI Insights.

Journal of the peripheral nervous system : JPNS
2026

Expanding the Clinical Spectrum of Bardet-Biedl Syndrome: Chronic Liver Disease in an Adult Patient.

Cureus
2026

[Construction and application of theoretical system for dynamic evolution of blood stasis syndrome in non-traumatic osteonecrosis of femoral head: from static characteristics to dynamic laws].

Zhongguo Zhong yao za zhi = Zhongguo zhongyao zazhi = China journal of Chinese materia medica
2026

A variant in RESF1 is associated with Addison's disease and multiple autoimmune syndrome in young Nova Scotia Duck Tolling Retrievers.

Scientific reports
2025

[Advance in research on MIRAGE syndrome].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
2026

A rare case report of familial glucocorticoid deficiency type 4 (GCCD4) with dilated cardiomyopathy: a 3-year follow-up study.

Translational pediatrics
2026

Dyskeratosis Congenita: Clinical Phenotype and Genetic Features in a Sibling Pair.

Clinical, cosmetic and investigational dermatology
2026

Study of association between serum anti-Müllerian hormone, glucose intolerance, and metabolic syndrome in women with polycystic ovarian syndrome: A comparative study.

International journal of gynaecology and obstetrics: the official organ of the International Federation of Gynaecology and Obstetrics
2026

Bridging Population Patterns and Individual Prediction: Framework for Prospective Multimorbidity Study.

JMIR medical informatics
2026

Physical Therapy Students' Perspective of Treating Patients with Post-Acute COVID-19 Syndrome as a Member of a Student-led Interprofessional Care Team.

Journal of allied health
2026

Multi-site microbiota crosstalk in the postmenopausal: from dysbiosis mechanisms to precision interventions.

Frontiers in microbiology
2026

Adult-Onset Diabetes and Liver Fibrosis as Diagnostic Clues to Alström Syndrome: A Case Report.

Cureus
2026

Mice humanized by syntenic replacement with full-length NLRP3 disease-associated variants model the clinical cryopyrinopathy continuum.

JCI insight
2026

Resolution of Long COVID and myalgic encephalomyelitis/chronic fatigue syndrome symptoms following kanshoho, a low-pressure muscle relaxation technique: A case report.

Explore (New York, N.Y.)
2026

Two Cases of Successful Kidney Transplantation From a 39-Year-Old Male Deceased Donor With Marfan Syndrome: A Case Series.

The American journal of case reports
2026

Commentary on multisystem inflammatory syndrome in children with tailored therapy and six-month outcome.

Pediatric research
2026

Marfan Before Marfan? Iconodiagnostic Analysis of a Possible Marfan Spectrum Phenotype in an Etruscan Sculpture.

Clinical genetics
2026

Pipeline-optimized machine learning for chronic fatigue syndrome diagnosis: A lightweight, interpretable model using blood biochemical and metabolomic data.

Computational biology and chemistry
2026

Case report: the unusual association of Kartagener's syndrome and systemic lupus erythematosus.

Annals of medicine and surgery (2012)
2026

The Early Visual System in Schizophrenia.

Annual review of vision science
2026

Kawasaki disease vs. MIS-C in a child with congenital coronary artery anomaly: a case report.

Frontiers in pediatrics
2026

[Features of premorbid status in patients with Rett syndrome].

Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova
2026

Treatment of Brain Abscess in Patient with Eisenmenger Syndrome.

Journal of Korean Neurosurgical Society
2026

Superior mesenteric artery syndrome in a 26-year-old male presenting as acute pancreatitis and portal venous gas: a case report and review of the literature.

Journal of medical case reports
2026

Long COVID Myocarditis: Incidence, Mechanisms, Clinical Implications, and Management.

Cardiology in review
2026

Myhre Syndrome Presenting With Congenital Proximal Radioulnar Synostosis: A Case Report.

Cureus
2026

Unraveling the Complexities of Kartagener's Syndrome: A Case of Bronchiectasis, Isolated Dextrocardia, and Primary Ciliary Dyskinesia in an Adult With Chronic Respiratory Symptoms.

Clinical case reports
2026

Bardet-Biedl Syndrome in India: Genotypic Spectrum and Clinical Features From a Single-Centre Cohort.

Clinical endocrinology
2026

Patient-derived TWNK variants recapitulate multisystem Perrault syndrome pathology in a mouse model.

Mitochondrion
2026

Impacts of Alagille syndrome on sleep of patients and their caregivers.

Sleep medicine
2026

Trends, burden, and outcomes of hypoglycemia hospitalizations in older adults: a territory-wide study in Hong Kong, 2012-2021.

Archives of gerontology and geriatrics
2026

Digital Medicine in the Management of Heart Failure: From Reactive Care to Predictive, Pathophysiology-Driven Strategies.

Healthcare (Basel, Switzerland)
2026

From Respiratory Pathogen to Systemic Threat: Rethinking Mycoplasma pneumoniae Infections.

Microorganisms
2026

Activity and Damage Indices for Sjögren's Disease.

Journal of clinical medicine
2026

Peripartum Depression as a Heart-Brain-Endocrine-Immune Syndrome: Neuroendocrine, Cardiovascular, and Inflammatory Pathways Underlying Maternal Vulnerability.

Life (Basel, Switzerland)
2026

Systematic Examination of Gene Expression and Proteomic Evidence Across Tissues Supports the Role of Mitochondrial Dysregulation in ME/CFS.

International journal of molecular sciences
2026

Application of Prenatal Whole Exome Sequencing for Congenital Heart Anomalies.

International journal of molecular sciences
2026

Multi-System Genetic Architecture of Hypermobile Ehlers-Danlos Syndrome: Integrating Machine Learning with Subject-Level Genomic Analysis.

Genes
2026

Adaptive and Behavioral Phenotype in Pediatric 22q11.2 Deletion Syndrome: Characterizing a High-Risk Neurogenetic Copy Number Variant.

Genes
2026

Differentiating Multisystem Inflammatory Syndrome in Children (MIS-C) from Acute COVID-19 Using Biomarkers: Toward a Practical Clinical Scoring Model.

Biomedicines
2026

One-Hour Post-Load Glucose Is Associated with Multisystem Complications in People Living with Obesity.

Biomolecules
2026

Ocular Symptoms as a Marker of Dysautonomia in Long-COVID Patients: A Cross-Sectional Analysis.

Brain sciences
2026

Development of a Predictive Model for Cardiac Dysfunction in MIS-C Patients Utilizing Laboratory Biomarkers.

Children (Basel, Switzerland)
2026

Incidence of COVID-19-Associated Hospitalization by Vaccination Status in Children and Adolescents During Omicron-Dominant Period in Japan: The VENUS Study.

Children (Basel, Switzerland)
2026

Possibilities and Limitations of Prenatal Diagnosis of Rare Imprinting Syndromes: Prader-Willi Syndrome.

Children (Basel, Switzerland)
2026

Cowden Syndrome: Imaging Review and Cancer Surveillance.

Radiographics : a review publication of the Radiological Society of North America, Inc
2026

Multimodality Approach to Coronary Ischemic Testing in Pediatric Patients: A Scientific Statement From the American Heart Association.

Journal of the American Heart Association
2026

'What Do People With Long Covid Want From Healthcare Services?' A Qualitative Exploration From Lived Experience.

Health expectations : an international journal of public participation in health care and health policy
2026

Post-COVID Syndrome in Patients With Comorbid Hypertension or Diabetes: A Narrative Review of Long-Term Outcomes.

Cureus
2026

Rotator Cuff Impingement Damages the Organelles of Tenocytes, Resulting in Excessive Tenocyte Apoptosis and Tendinopathy.

The American journal of sports medicine
2026

Phenotype-associated microvascular differences in pediatric Behçet's disease revealed by nailfold videocapillaroscopy.

European journal of pediatrics
2026

Genetic and Clinical Characteristics of Chromosome 15q11-q13 Duplication Syndrome in Chinese Children.

American journal of medical genetics. Part A
2026

A Systematic Review of Erdheim-Chester Disease and IgG4-Related Disease: Building a Diagnostic Framework for the Rheumatologist.

Journal of clinical rheumatology : practical reports on rheumatic &amp; musculoskeletal diseases
2026

Immune Dysregulation, Polyendocrinopathy and Enteropathy X-Linked Syndrome with Neonatal Onset: A Case Report.

Acta medica portuguesa
2025

Giant ascending aortic aneurysm in a 2-year-old child with Kabuki syndrome: A rare cardiovascular pathology and successful surgical repair.

Annals of pediatric cardiology
2026

Post-MIS-C cardiovascular outcomes: a systematic review.

European journal of pediatrics
2026

Clinical manifestations and management of prune-belly syndrome: A 20-year single center experience.

Journal of pediatric urology
2026

Childhood Obesity: A Multisystem Challenge Linking Hypertension, NAFLD, and Sleep Apnea.

Medical sciences (Basel, Switzerland)
2026

Clinico-Etiological Study of Purpura Fulminans: Experience from a Tertiary-Care Children Hospital.

Indian dermatology online journal
2025

Factors Associated With PICU Admission In Children With Multisystem Inflammatory Syndrome (MIS-C): An Observational Cohort Study.

La Tunisie medicale
2026

Comparison of presentation, treatment and follow-up outcomes in first and second wave cohorts of multisystem inflammatory syndrome in children.

Frontiers in pediatrics
2026

Hemophagocytic Lymphohistiocytosis Secondary to Extrapulmonary Tuberculosis in an HIV Patient: A Case Report.

Cureus
2025

Case Report: Nephrocalcinosis from pancreatic hypoplasia in HNF1B disease: a multigenerational expression with genetic confirmation in the youngest generation.

Frontiers in medicine
2026

Long-term Oral Management for 2q37 Deletion Syndrome Patient.

The Bulletin of Tokyo Dental College
2026

The 22q11.2 deletion syndrome: Genetic mechanisms, clinical manifestations, and therapeutic strategies.

Clinica chimica acta; international journal of clinical chemistry
2026

Clinical and genetic characteristics of a large cohort of children with Alagille syndrome: identification of 57 new variants in the JAG1 gene.

Journal of human genetics
2026

Multisystem involvement with ischemic complications in a child with STEC-HUS: a case of gangrene.

Pediatric nephrology (Berlin, Germany)
2026

Early eculizumab treatment improves renal outcomes in pediatric lupus nephritis with thrombotic microangiopathy.

Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association
2026

Routine Fundoscopy Uncovering Wolfram Syndrome in a Diabetic Patient: A Case Report.

Cureus
2026

Twins With Pathogenic RNF113A Variant Presenting With Testicular Regression Syndrome.

JCEM case reports
2026

Adult-Onset Still's Disease(AOSD) With Features Suggestive of Macrophages Activation Syndrome in Young Female: A Rare Case Report From Nepal.

Clinical case reports
2026

Genetic Insights into Circulating Complement Proteins in Myalgic Encephalomyelitis/Chronic Fatigue Syndrome: A Potential Inflammatory Subgroup.

International journal of molecular sciences
2026

Assessing Seroprevalence and Infection Dynamics of Oncogenic Gammaherpesviruses in South African Paediatric Patients Presenting with Inflammatory Conditions.

International journal of molecular sciences
2026

MELAS Syndrome Presenting with Hypertrophic Cardiomyopathy and Advanced Heart Failure: A Multisystem Diagnostic Challenge.

Journal of clinical medicine
2026

Determinants of Health-Related Quality of Life in Women with Turner Syndrome: The Role of Comorbidities, Hormonal Therapy and Depressive Symptoms.

Journal of clinical medicine
2026

Review of Cutaneous Manifestations in Myhre Syndrome With Histopathological Analyses and Genotype-Phenotype Correlation.

American journal of medical genetics. Part C, Seminars in medical genetics
2026

NOD2-Related Multisystem Inflammatory Disorders and Recent Advances.

Current rheumatology reports
2026

Exploring the Interplay Between Micronutrients and Cytokine Storm in Children with Multisystem Inflammatory Syndrome: 'A Potential Mechanical Insight'.

Indian journal of clinical biochemistry : IJCB
2026

Hives in autonomic disorders: a cutaneous marker of a distinct symptom phenotype.

Annals of medicine
2026

Management of an infant with prune belly syndrome under caudal anaesthesia undergoing laparoscopic surgery.

BMJ case reports
2026

Screening for Maternally Inherited Diabetes and Deafness in Large Cohorts of Hearing Impaired and Diabetic Patients.

Ear and hearing
2026

The lasting burden of gender discrimination in medicine: lifelong multisystem consequences of Rathke's pouch resection in Williams syndrome.

International journal of surgery (London, England)
2026

Smooth Muscle Dysfunction Drives Cerebrovascular Reserve Failure and End-Organ Brain Injury.

bioRxiv : the preprint server for biology
2026

Unraveling the Mechanistic Spectrum of Myhre Syndrome: SMAD4 Signaling Disruption, Skeletal Phenotypes, and Translational Innovation.

American journal of medical genetics. Part C, Seminars in medical genetics
2026

Associated factors and assessment of clinical symptoms including fatigue, insomnia, and gastrointestinal discomfort of chronic fatigue syndrome: a cross-sectional case-control study.

Journal of translational medicine
2026

Preterm Finnish-type congenital nephrotic syndrome (NPHS1 variant) with multisystem involvement and TORCH coinfection.

BMJ case reports
2026

Shared TCR Vβ21.3+ T cell immunological signature between MIS-A and MIS-C.

Journal of human immunity
2026

Heart Stress, Frailty and Mortality Risk in two prospective cohorts.

medRxiv : the preprint server for health sciences
2026

ROSAH syndrome lacking splenomegaly and complete anhidrosis.

BMJ case reports
2026

Vogt-Koyanagi-Harada disease under the lens: Insights from multimodal ocular imaging.

Progress in retinal and eye research
2026

Bardet-Biedl Syndrome in Four Siblings: Clinical and Genetic Insights From a Rare Familial Cluster.

AACE endocrinology and diabetes
2025

Intestinal barrier compromise, viral persistence, and immune dysregulation converge on neurological sequelae in Long COVID.

Frontiers in aging neuroscience
2026

The role of genetics and molecular mechanisms in early onset scoliosis.

Journal of clinical orthopaedics and trauma
2025

Alteration of hippocampal parvalbumin interneurons underlies memory impairment in rat model of Parkinson's disease.

Frontiers in behavioral neuroscience
2026

Juvenile systemic sclerosis.

Best practice &amp; research. Clinical rheumatology
2026

Clinically validated assay for rapid determination of type I and type II interferon activity in systemic inflammatory diseases.

The Journal of allergy and clinical immunology
2026

Syndrome of the Month: Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia Type 2.

American journal of medical genetics. Part A
2026

Perioperative Management of a Pediatric Patient With Koolen-de Vries Syndrome Presenting for Posterior Spinal Fusion.

Journal of medical cases
2026

Markedly Low Prevalence of Fatty Liver Despite Obesity in Prader-Willi Syndrome: A Search for Protective Genetic Markers.

Journal of clinical and experimental hepatology
2026

Multiorgan involvement with cardiac, renal and skeletal manifestations following inhalation of compressed air: A case report.

Medicine international
2025

Subacute thyroiditis after COVID-19 - Clinical, laboratory and ultrasound aspects.

Journal of family medicine and primary care
2026

ReNU Syndrome due to a de novo RNU4-2 Variant as a Novel Genetic Cause of Proteinuria.

Kidney medicine
2026

Macrophage Activation Syndrome-Associated Proteins and Enhanced Interferon-γ Responsiveness in the Plasma Proteome of Patients With Multisystem Inflammatory Syndrome in Children in a Pretreatment Replication Single-Center Cohort.

ACR open rheumatology
2026

Behçet's Disease: A Comprehensive Overview of Symptoms, Pathology, Genetics, and Treatment.

Journal of mother and child
2026

Hospitalization outcomes and laboratory correlations in pediatric MIS-C patients: a retrospective cross-sectional study in Tehran, Iran.

BMC pediatrics
2026

POEMS syndrome: a neuromuscular perspective.

Journal of neurology, neurosurgery, and psychiatry
2026

Polycystic ovary syndrome (PCOS): current insights, emerging therapeutics, and future treatment strategies.

Inflammopharmacology
2025

Neutrophil Extracellular Traps in Pediatric Infections: A Systematic Review.

Current issues in molecular biology
2026

Outcomes of kidney transplantation in three patients with single large-scale mitochondrial DNA deletion syndromes.

Molecular genetics and metabolism
2026

Aortic graft invasion into duodenum as an atypical pathergy phenomenon in vascular Behçet's disease.

Modern rheumatology case reports
2025

Eosinophilic granulomatosis with polyangiitis related giant coronary aneurysm leading to acute myocardial infarction: a case report.

European heart journal. Case reports
2026

Clinical Features of Systemic Amyloidosis: A Scoping Review.

Blood advances
2025

Multisystem Complications in Postpartum-Onset Evans Syndrome: A Case Report.

Cureus
2026

Metabolic Dysfunction at the Core: Revisiting the Overlap of Cardiovascular, Renal, Hepatic, and Endocrine Disorders.

Life (Basel, Switzerland)
2026

Prenatal Diagnosis of Peters-Plus Syndrome: A Case Report.

Life (Basel, Switzerland)
2026

Sarcopenia as a Multisystem Disorder-Connections with Neural and Cardiovascular Systems-A Related PRISMA Systematic Literature Review.

Life (Basel, Switzerland)
2026

A Comprehensive Patient-Centric Analysis of Disease Burden, Treatment Challenges, and Unmet Needs in Behçet's Disease: Insights from a Large Cohort Study.

Medicina (Kaunas, Lithuania)
2026

State-of-the-Art Research and New Pharmacological Perspectives on Renal Involvement in Duchenne Muscular Dystrophy: A Narrative Review.

Biomedicines
2025

A Systematic Review Illustrates the Expanding Clinical and Molecular Landscape of Helsmoortel-Van der Aa Syndrome.

Brain sciences
2026

The Role of Imaging Techniques in the Evaluation of Extraglandular Manifestations in Patients with Sjögren's Syndrome.

Diagnostics (Basel, Switzerland)
2026

Early administration of neutralizing monoclonal antibodies and post-acute sequelae of COVID-19.

International journal of infectious diseases : IJID : official publication of the International Society for Infectious Diseases
2026

Australian Paediatric Surveillance Unit (APSU) Annual Surveillance Report 2024.

Communicable diseases intelligence (2018)
2025

Delayed Clinical Diagnosis of Alström Syndrome in a Resource-Limited Setting: A Case Report From Rural Pakistan.

Cureus
2026

Tuberculosis Masquerading as Behcet's Disease-Pseudo Bechet's Syndrome: A Case-Based Review of Literature.

Respirology case reports
2025

Whipple's Disease, a Rare Cause of Constrictive Myopericarditis and Right-Sided Heart Failure.

Cureus
2025

Gender Bias and Diagnostic Delays in Young Women: A Narrative Review.

Cureus
2026

Reared-Apart Twins From the Philippines: New Views of Lingering Questions/Twin Research Reviews: Twin Discordance for Multisystem Inflammatory Syndrome; IVF Twins and Hearing Impairment; Writing Styles of MZ Twins; Update on Twins with Feingold Syndrome/Human Interest: Conjoined Twin Girls Born in Sri Lanka, Conjoined Twin Boys Born in Papua, New Guinea, Update on Conjoined Twins Abby and Brittany Hensel, Twin Sentenced for Criminal Activities, and Correct Identification of an Identical Twin Culprit by DNA Sequencing.

Twin research and human genetics : the official journal of the International Society for Twin Studies
2026

[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 pediatrics
2026

Evaluated the immune efficacy of a bivalent inactivated vaccine against post-weaning multisystemic wasting syndrome and mycoplasmal pneumonia of swine.

Research in veterinary science
2026

Clinical and Molecular Characterization of Five Additional Individuals With SATB2-Associated Syndrome in Guangxi.

Biochemical genetics
2026

Gastrointestinal Symptoms in Kawasaki Disease and Multisystem Inflammatory Syndrome in Children.

Pediatric cardiology
2026

International Clinical Evidence-based Guideline for Kleefstra Syndrome.

Genetics in medicine : official journal of the American College of Medical Genetics
2026

Shared autonomic phenotype of long COVID and myalgic encephalomyelitis/chronic fatigue syndrome.

PloS one
2026

Peripheral Signatures of Multidimensional Pathology in Symptomatic and Asymptomatic Creutzfeldt-Jakob Disease.

CNS neuroscience &amp; therapeutics
2025

A novel variant in SIAH1 associated with autosomal dominant Buratti-Harel syndrome.

Frontiers in neuroscience
2025

Risk factors for sacrococcygeal pilonidal sinus: a systematic review and meta-analysis supplemented by genetic causal assessment.

Frontiers in surgery
2026

Expanding the Genotype-Phenotype Correlation of Marden-Walker Syndrome due to PIEZO2 Gene Variants: A Case Report From Brazil.

American journal of medical genetics. Part A
2026

Distinguishing Leptospirosis from Other Causes of Acute Encephalitis Syndrome: Clinical Insights.

Annals of African medicine
2026

Kawasaki Disease Versus Multisystem Inflammatory Syndrome in Children: Exploring the Complexities of Pediatric Cardiac Inflammatory Disorders.

Sage open pediatrics
2025

Case Report: Low cardiac output syndrome with multisystem complications following total repair of tetralogy of fallot.

Frontiers in pediatrics
2026

Multisystem Comorbidities Associated With Orofacial Dysfunction in the Appalachian Region: A Retrospective Analysis.

Plastic and reconstructive surgery. Global open
2026

Neuraltherapeutic Medicine in Post-Acute COVID-19 Vaccination Syndrome (PACVS): A Critical Review with a Case Report.

Restorative neurology and neuroscience
2026

Frailty in Focus: A Scoping Review of Frailty Instruments from the Kidney Disease Aging Research Collaborative.

Clinical journal of the American Society of Nephrology : CJASN
2026

Cowden Syndrome in Childhood: Gastrointestinal Involvement in a Multisystem Genetic Disorder-A Case Report.

Reports (MDPI)
2026

TAVI-in-TAVI in a patient with morquio syndrome: a case report.

European heart journal. Case reports
2026

Joint 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 health
2026

The 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.

Trials
2026

Hemiconvulsion-Hemiplegia-Epilepsy Syndrome Associated with SARS-CoV-2 Infection and a Heterozygous IRF3 Variant in a 10-month-old Girl: A Case Report.

Neuropediatrics
2026

Prevalence of Bodily Distress Syndrome and Prediction of Patient Outcomes: Cohort Study of 3762 Individuals With Persistent Pain.

European journal of pain (London, England)
2025

The Hepato-Cardio-Renal Axis in Cirrhosis: Hemodynamic and Mechanistic Insights, Diagnostic Biomarkers, and Expanding Therapeutic Horizons.

Discoveries (Craiova, Romania)
2025

Case Report: genotype-phenotype correlations in FLNA mutations: insights from a case of multisystem dysfunction.

Frontiers in genetics
2025

Acute Soft Head Syndrome: A Case Report in Kuwait and a Clinical Framework for Management.

Cureus
2025

Retinal Degeneration and Visual Outcomes in Patients With Bardet-Biedl Syndrome: Genotypic Influences From a Caribbean Cohort.

Cureus
2026

Associations between cardiovascular-kidney-metabolic syndrome staging and risks of all-cause and cardiovascular mortality: a systematic review and meta-analysis.

American journal of preventive cardiology
2026

Drug Reaction With Eosinophilia and Systemic Symptoms (DRESS Syndrome) Manifesting With Pseudolymphoma Multisystemic Organ Involvement.

Clinical case reports
2026

Diagnosis of Dual c- and p-ANCA Vasculitis Following SARS-CoV-2 Infection: A Case Report.

The American journal of case reports
2026

Clinical Manifestations and Genetic Insights Into Congenital Myasthenic Syndrome-22 in Pediatric Patients.

Pediatric neurology
2026

Impaired function of Vγ9Vδ2 T cells in frail elderly.

Immunity &amp; ageing : I &amp; A
2026

Multi-omics profiling reveals CKM syndrome severity as a gradient risk factor for cancer: A prospective cohort study.

Metabolism: clinical and experimental
2025

Multiple Endocrine Neoplasia Type 1 Presenting as Recurrent Overt Gastrointestinal Bleeding and Ulceration: A Diagnostic Challenge.

Cureus
2026

Unraveling cardiac anomalies in pediatric neurofibromatosis type 1: insights and implications.

European journal of pediatrics
2026

Clinical and Genotypic Spectrum of Twinkle-Related Disorders: Insights From a Multinational Cohort Study.

Neurology
2026

Practical Interpretation of Bone Scintigraphy: Metastases, Fractures, and Beyond.

Radiographics : a review publication of the Radiological Society of North America, Inc
2026

Orbital inflammation in VEXAS syndrome.

The British journal of ophthalmology

Associações

Organizações que acompanham esta doença — pra ter apoio e orientação

Ainda não temos associações cadastradas para Síndrome multissistêmica LAMA5-relacionada.

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 multissistêmica LAMA5-relacionada

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 login

Doenças relacionadas

Doenças com sintomas parecidos — ajudam quem ainda está buscando diagnóstico

Ainda não achamos doenças com sintomas parecidos o suficiente.

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. Pediatric COVID-19 in Korea: Lessons and Strategies for Future Disease-X Preparedness.
    Journal of Korean medical science· 2026· PMID 41873445mais citado
  2. MASLD as a systemic metabolic disease: expanding the scope of cardiovascular-kidney-metabolic (CKM) syndrome.
    Science China. Life sciences· 2026· PMID 41854965mais citado
  3. Modeling Williams syndrome from a neurodevelopmental perspective: recent advances, model-based translational insights and future directions.
    World journal of pediatrics : WJP· 2026· PMID 41845159mais citado
  4. 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
  5. Case Report: Compound heterozygous mutations in the IDUA gene causing mucopolysaccharidosis type I with uterine developmental abnormality.
    Frontiers in pediatrics· 2026· PMID 41837196mais citado
  6. Genomic newborn screening as a paradigm shift in rare disease management, with emphasis on endocrine conditions.
    Ann Endocrinol (Paris)· 2026· PMID 41864333recente
  7. De Novo RRAS2 Pathogenic Variant in a Fetus With Bilateral Radial Ray and Multisystem Anomalies.
    Prenat Diagn· 2026· PMID 41862422recente
  8. Case Report: a 28-year-old female patient presented with recurrent fevers and episodes of shock due to ZBTB24 pathogenic variant.
    Front Immunol· 2026· PMID 41859080recente
  9. Diagnostic genetic testing indications and findings in type II, IX and XI collagenopathies.
    J Med Genet· 2026· PMID 41856555recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:521450(Orphanet)
  2. MONDO:0033856(MONDO)
  3. GARD:22146(GARD (NIH))
  4. Variantes catalogadas(ClinVar)
  5. 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

Compêndio · Raras BR

Síndrome multissistêmica LAMA5-relacionada

ORPHA:521450 · MONDO:0033856
Prevalência
<1 / 1 000 000
Casos
11 casos conhecidos
Herança
Autosomal dominant
CID-10
M79.8 · Outros transtornos especificados dos tecidos moles
CID-11
Início
Infancy, Neonatal
Prevalência
0.0 (Worldwide)
MedGen
UMLS
C5681442
DiscussaoAtiva

Nenhuma novidade ainda. O agente esta monitorando.

0membros
0novidades