Raras
Buscar doenças, sintomas, genes...
Síndrome de hiperCKemia-mialgia-rabdomiólise assintomática
ORPHA:689021CID-10 · G71.8DOENÇA RARA
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Introdução

O que você precisa saber de cara

📋

Doença genética rara associada a mutações no gene ANO5, caracterizada por níveis elevados de CK muscular (hiperCKemia) e mialgia, com episódios assintomáticos de rabdomiólise. Pode apresentar fraqueza muscular progressiva.

🏥
SUS: Cobertura mínimaScore: 15%
CID-10: G71.8
🇧🇷Dados SUS / DATASUS
PROCEDIMENTOS SIGTAP (2)
0202010694
Sequenciamento completo do exoma (WES)genetic_test
0301070040
Atendimento em reabilitação — doenças rarasrehabilitation
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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
Pico2026179 papers
Linha do tempo
2025Hoje · 2026
Publicações por ano (últimos 10 anos)

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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.

Autosomal recessive
ANO5Anoctamin-5Disease-causing germline mutation(s) inTolerante
FUNÇÃO

Plays a role in plasma membrane repair in a process involving annexins (PubMed:33496727). Does not exhibit calcium-activated chloride channel (CaCC) activity

LOCALIZAÇÃO

Endoplasmic reticulum membraneCell membrane

VIAS BIOLÓGICAS (2)
Induction of Cell-Cell FusionStimuli-sensing channels
MECANISMO DE DOENÇA

Gnathodiaphyseal dysplasia

Rare skeletal syndrome characterized by bone fragility, sclerosis of tubular bones, and cemento-osseous lesions of the jawbone. Patients experience frequent bone fractures caused by trivial accidents in childhood; however the fractures heal normally without bone deformity. The jaw lesions replace the tooth-bearing segments of the maxilla and mandible with fibrous connective tissues, including various amounts of cementum-like calcified mass, sometimes causing facial deformities. Patients also have a propensity for jaw infection and often suffer from purulent osteomyelitis-like symptoms, such as swelling of and pus discharge from the gums, mobility of the teeth, insufficient healing after tooth extraction and exposure of the lesions into the oral cavity.

OUTRAS DOENÇAS (6)
autosomal recessive limb-girdle muscular dystrophy type 2Lgnathodiaphyseal dysplasiaautosomal recessive limb-girdle muscular dystrophyMiyoshi muscular dystrophy 3
HGNC:27337UniProt:Q75V66

Variantes genéticas (ClinVar)

321 variantes patogênicas registradas no ClinVar.

🧬 ANO5: NM_213599.3(ANO5):c.261del (p.Asp88fs) ()
🧬 ANO5: NM_213599.3(ANO5):c.2427C>G (p.Tyr809Ter) ()
🧬 ANO5: NM_213599.3(ANO5):c.271A>T (p.Lys91Ter) ()
🧬 ANO5: NM_213599.3(ANO5):c.2586_2596del (p.Ile865fs) ()
🧬 ANO5: NM_213599.3(ANO5):c.1059C>A (p.Cys353Ter) ()
Ver todas no ClinVar

Vias biológicas (Reactome)

2 vias biológicas associadas aos genes desta condição.

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 de hiperCKemia-mialgia-rabdomiólise assintomática

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Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.

Pesquisa ativa

Ensaios clínicos abertos e novidades científicas recentes

Pesquisa e ensaios clínicos

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Publicações mais relevantes

Timeline de publicações
0 papers (10 anos)
#1

Consensus statements of the Hellenic Autoimmune Liver Diseases Study Group on the diagnosis and current management of primary biliary cholangitis.

Annals of gastroenterology2026

Primary biliary cholangitis (PBC) is an autoimmune epithelitis of small intrahepatic bile ducts that affects predominately females, and is characterized by chronic cholestasis, circulating PBC-related autoantibodies, and progressive disease at the histological level. Key manifestations include pruritus, fatigue, hyperpigmentation, dry-gland syndrome, xanthelasmas and frequent concurrent extrahepatic autoimmune diseases, although approximately half the patients are nowadays completely asymptomatic at diagnosis. The current Consensus Statements of the Hellenic Autoimmune Liver Diseases Study Group aim to provide updated and practical statements to clinicians for PBC diagnosis and management. The presence of antimitochondrial antibodies is a key diagnostic marker for PBC. PBC-specific antinuclear antibodies (anti-gp210 and anti-sp100) also bear diagnostic and prognostic significance. Following diagnosis, this document provides guidance on the comprehensive assessment and risk stratification of patients, using demographic factors, clinical and biochemical laboratory findings, liver autoimmune serology and fibrosis stage. After 6-12 months of therapy with first-line treatment (13-15 mg/kg/day ursodeoxycholic acid [UDCA]), a new risk-stratification procedure should be performed, based on the assessment of biochemical response using a continuous scoring system (either GLOBE or UK-PBC score). In non-responders, add-on treatment to UDCA with a second-line agent, a proliferator-activated receptor agonist (PPAR), either elafibranor (PPARα/δ agonist) or seladelpar (PPARδ agonist), is recommended. The treatment target-also known as deep response-should aim to achieve bilirubin within the normal range, specifically at values <0.6× upper limit of normal, along with normalization of alkaline phosphatase. The disease-associated major symptoms (pruritus, fatigue and cognitive dysfunction) should also be promptly recognized and managed in a holistic manner, as they negatively affect the patient's health-related quality of life.

#2

Respiratory syndromic disease study in Shanghai community population.

BMJ open2026 Mar 18

This prospective community-based cohort study (Acute Respiratory Infection Epidemiological Characteristics Assessment Study (ARI-ECAS)) aims to systematically monitor acute respiratory infection (ARI) incidence, characterise multiple pathogen coinfection patterns and explore microbial landscape dynamics in Shanghai's general population. By integrating syndromic surveillance, molecular diagnostics and metagenomic sequencing, the study seeks to enhance understanding of ARI epidemiology, seasonal variation and host-pathogen interactions to inform predictive modelling and optimise public health interventions in high-density urban environments. The study enrolled 15 199 permanent residents from all 16 districts of Shanghai, with baseline oropharyngeal swab samples across five representative districts (Xuhui, Jing'an, Jiading, Songjiang and Fengxian). Inclusion criteria required residency ≥6 months and consent for weekly follow-ups. Exclusion criteria addressed mobility limitations (planned relocation >6 months) and recent ARI history. Participants provided demographic, behavioural and clinical data via the Shanghai Health Cloud platform, with baseline and symptomatic-phase biological samples collected for analysis. During the initial 8-month surveillance period (May 2024-January 2025), the ARI-ECAS cohort demonstrated critical insights into the epidemiology of acute respiratory infections in Shanghai's urban communities. Among 15 199 participants, 10.96% reported symptomatic episodes, of whom 21.43% experienced recurrent infections. Pathogen detection using targeted next-generation sequencing (tNGS) identified microbial aetiologies in 53.52% of symptomatic cases, revealing a high prevalence of coinfections: 27.96% involved dual pathogens, while 33.01% showed polymicrobial interactions (≥3 pathogens). Notably, 85.09% of symptomatic episodes were self-managed, underscoring a low healthcare-seeking rate (14.91%) consistent with patterns observed in urban China during postpandemic transitions. The current phase of data collection will conclude in June 2025; however, syndromic surveillance and tNGS protocols will be sustained to capture multiyear seasonal transmission patterns. To enhance comparative rigour, future protocols will aim to collect samples from participants during asymptomatic periods in the subsequent year to serve as seasonal baseline controls. Building on this foundation, the study will integrate contact behaviour and mobility surveys to quantify parameters critical for understanding pathogen transmission dynamics (eg, household contacts and public transportation usage). Furthermore, pathogen detection and metagenomic data will be combined with transcriptomic and metabolomic profiling in selected cases to model multipathogen interaction networks and delineate host immune response pathways, thereby advancing mechanistic insights into polymicrobial cocirculation.

#3

Defective RNA Polymerase III sensing of mitochondrial DNA in pulmonary epithelial cells impairs type I IFN immunity to SARS-CoV-2.

Proceedings of the National Academy of Sciences of the United States of America2026 Mar 24

The clinical spectrum of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection ranges from asymptomatic cases to critical COVID-19 pneumonia. To investigate the role of host genetics in susceptibility to critical COVID-19 and identify pathophysiological mechanisms and pathways, we analyzed whole-exome and whole-genome sequencing data from the COVID Human Genetic Effort. We identified 10 rare, monoallelic predicted loss-of-function variants in 18 patients in POLR3A and POLR3C encoding two subunits of RNA polymerase III (POL III), a nuclear multisubunit enzyme, which has been implicated in cytosolic DNA sensing. These variants were deleterious for expression of full-length POLR3A and POLR3C proteins. We demonstrate that human pulmonary A549-hACE2 cells with reduced POLR3A or POLR3C expression exhibit impaired type I IFN responses to transfected mitochondrial DNA (mtDNA) or SARS-CoV-2 infection, together with increased viral replication. Mechanistically, we show that SARS-CoV-2 induces cellular mtDNA release via oligomerization of the mitochondrial voltage-dependent anion channel under virus-induced oxidative stress, enabling POL III-mtDNA interaction. These findings establish POL III as a sensor of endogenous mtDNA released during viral infection and indicate that autosomal dominant POL III haploinsufficiency may predispose individuals to critical COVID-19.

#4

[Clinical and genetic characteristics of 15 pediatric cases of long QT syndrome type 2 caused by KCNH2 variants].

Zhonghua er ke za zhi = Chinese journal of pediatrics2026 Mar 14

Objective: To investigate the clinical features and genotype-phenotype correlation in pediatric patients with long QT syndrome type 2 (LQTS2) caused by KCNH2 variants. Methods: A retrospective cohort study. Fifteen children with KCNH2 variants admitted to Beijing Children's Hospital, Capital Medical University, from May 2020 to August 2025 were included. Clinical data, electrocardiogram (ECG) findings, and genetic test results were collected. Variant pathogenicity was classified according to the American College of Medical Genetics and Genomics (ACMG) guidelines. The genotype-phenotype correlation was analyzed. Based on the location of protein functional domain, patients were divided into a pore-domain group and a non-pore-domain group. Differences in ECG parameters were compared between the two groups. Independent sample t-test was used for inter-group comparison. Results: The cohort included 10 males and 5 females, with the age of 9.5 (5.3, 11.9) years. Eleven patients presented with syncope as the initial symptom, while 4 cases were asymptomatic. Among the symptomatic cases, triggers included exercise/emotional stress (7 cases), awakening (2 cases), infection (1 case), and no obvious trigger (1 case). Fourteen children exhibited prolonged correct QT interval (QTc) on resting ECG, measuring 502 (490, 548) ms. Seven cases exhibited characteristic LQTS2 T-wave changes, and 8 children had concomitant arrhythmias, including 3 cases with torsades de pointes. All 15 children carried heterozygous KCNH2 variants (13 missense, 1 nonsense and 1 frameshift). Among these, 5 variants were located in the pore domain (e.g. P-loop/H5, S5), and 10 cases in non-pore domains (e.g. N-terminus, C-terminus). All pore-domain variants were classified as pathogenic according to ACMG criteria, and the QTc in this group was significantly longer than that in the non-pore-domain group ((548±32) vs. (498±45) ms, t=2.33, P<0.05). Three children in the pore-domain group experienced torsades de pointes. The non-pore-domain group showed greater clinical heterogeneity, with 5 variants classified as of uncertain significance. After the administration of beta-blockers therapy, syncope did not recur in 14 cases, while 1 case with a pore-domain variant continued to experience syncopal episodes. Conclusions: The clinical phenotype of children with KCNH2 variants is closely associated with the affected functional domain. Patients with pore-domain variants exhibit more pronounced QTc prolongation and a higher risk of malignant arrhythmias. Genotype-phenotype analysis provides important insights for clinical risk stratification, treatment selection and prognosis assessment. 目的: 探讨儿童KCNH2基因变异所致2型长QT综合征(LQTS)的临床特点及基因型-表型分析。 方法: 回顾性队列研究。选择2020年5月至2025年8月首都医科大学附属北京儿童医院收治的15例KCNH2基因变异2型LQTS患儿为研究对象,收集临床资料、心电图数据及基因检测结果,参照美国医学遗传学与基因组学学会(ACMG)指南进行变异致病性评级,分析基因型与表型的关联性,根据变异所在蛋白功能域分为孔域变异组与非孔域变异组,比较两组间心电图参数的差异,组间比较采用独立样本t检验。 结果: 15例患儿中男10例、女5例,年龄9.5(5.3,11.9)岁。11例以晕厥为首发症状、4例无症状。晕厥患儿中7例由运动或情绪激动诱发,2例在唤醒中发作,1例感染后诱发,1例无明显诱因;14例患儿静息心电图校正QT间期延长,为502(490,548)ms,7例伴2型LQTS特征性T波改变,8例合并心律失常(含尖端扭转型室性心动过速3例)。15例患儿均为KCNH2基因杂合变异(错义变异13例、无义变异1例、移码变异1例),其中5例变异位于孔域(P-loop/H5、S5 等),10例位于非孔域(N-末端、C-末端等)。孔域变异变异组ACMG指南评级均为致病变异,其校正QT间期长于非孔域变异组[(548±32)比(498±45)ms,t=2.33,P<0.05],其中3例发生尖端扭转型室性心动过速;非孔域变异组临床表现异质性大,其中5例为意义不明变异。14例接受β受体阻滞剂治疗后未再发晕厥,1例孔域变异患儿治疗后仍有晕厥发作。 结论: KCNH2基因变异患儿的临床表型与变异所在功能域密切相关,孔域变异者校正QT间期延长更显著、恶性心律失常风险更高;基因型-表型关联分析可为临床风险分层、治疗方案选择及预后评估提供重要参考。.

#5

Guideline-based diagnosis and management of congenital platelet function disorders: Current insights and future directions.

Blood reviews2026 Mar 11

Congenital platelet function disorders constitute a heterogeneous group of rare, genetic conditions classified according to the affected platelet component or functionality. Sixty entities have been identified, caused by defects in around seventy-five different genes. Clinical manifestations vary, ranging from asymptomatic to life-threatening. Patients typically present with spontaneous mucocutaneous hemorrhage, but syndromic conditions and malignancy risk are sometimes associated with inherited platelet function disorders. Early and accurate diagnosis, and long-term follow-up of the affected individuals by a multidisciplinary team of experts is crucial. Guidelines on laboratory testing have been developed. The initial approach consists of a comprehensive personal and family history and thorough examination. Diagnostic workup includes complete blood count, peripheral blood smear, light-transmission aggregometry, flow cytometry, electron microscopy, and genetic analysis. Stepwise diagnostic algorithms have been suggested, optimizing the diagnosis and care of patients presenting with clinical symptoms typical for congenital platelet function disorders. Further advancement and wider access to more recent diagnostic technologies are key to providing optimal personalized management and therapy. The future will entail earlier application of genomics, diagnostic tools enhanced by artificial intelligence, international collaborative networks and streamlined diagnostic models.

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Consensus statements of the Hellenic Autoimmune Liver Diseases Study Group on the diagnosis and current management of primary biliary cholangitis.

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Brugada Syndrome Unmasked by Fever: A Rare Cause of ST-Segment Elevation.

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Safety and efficacy of a novel traction balloon technique for guide-extension advancement in complex coronary interventions: a case series.

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Respiratory syndromic disease study in Shanghai community population.

BMJ open
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Physical therapy in sport : official journal of the Association of Chartered Physiotherapists in Sports Medicine
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Extreme Late Presentation of Marfan Aortopathy: Clinical, Surgical, and Decision-Making Challenges.

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Autologous fat grafting in a case of Parry-Romberg syndrome: a case report.

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Optimal deployment of gonorrhoea point-of-care tests: modelling the potential impact of diagnostic confirmation testing and screening strategies across five priority populations in Kenya.

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Defective RNA Polymerase III sensing of mitochondrial DNA in pulmonary epithelial cells impairs type I IFN immunity to SARS-CoV-2.

Proceedings of the National Academy of Sciences of the United States of America
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Type III abdominal cocoon syndrome presenting as mechanical small bowel obstruction: a rare pediatric case report.

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Cureus
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Nodular Pulmonary Amyloidosis Associated With Sjögren's Syndrome.

Cureus
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[Clinical and genetic characteristics of 15 pediatric cases of long QT syndrome type 2 caused by KCNH2 variants].

Zhonghua er ke za zhi = Chinese journal of pediatrics
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Redefining Hematology Referral Thresholds for Eosinophilia.

European journal of haematology
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Guideline-based diagnosis and management of congenital platelet function disorders: Current insights and future directions.

Blood reviews
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The Importance of Molecular Testing in the Diagnosis of Genetic Syndromes with Chronic Kidney Disease: Genotype-Phenotype Correlations.

International journal of molecular sciences
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Preeclampsia: Contemporary Concepts in Pathophysiology, Risk Stratification, Prevention and Monitoring.

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Evaluation of locomotive syndrome in patients with ossification of the posterior longitudinal ligament at cervical spine presenting mild symptoms.

Journal of orthopaedic science : official journal of the Japanese Orthopaedic Association
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Multivalvular Cardiac Involvement from Giant Hepatic Metastases of an Ileal Neuroendocrine Tumor.

Cureus
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[Guidelines for the diagnosis and treatment of obstructive sleep apnea in adults (2025)].

Zhonghua jie he he hu xi za zhi = Zhonghua jiehe he huxi zazhi = Chinese journal of tuberculosis and respiratory diseases
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Thyrotropin Controversy in Subclinical Thyroid Disorders.

The Journal of the Association of Physicians of India
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The Lethal Symbiont: Exploring the Pathophysiology of Cancer.

Physiological reviews
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The C3 p.Ile1157Thr mutation associated with atypical hemolytic uremic syndrome, particularly in Japan, does not lead to disease development in several mouse models.

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Shiga Toxin-Producing Escherichia coli Outbreak in Canadian Daycare Centers.

JAMA network open
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Case report: minimally invasive management of two major complications of colonic perforation and pseudoaneurysm formation following nephrostomy tube placement.

The Canadian journal of urology
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Association of tertiary lymphoid structures and benign lymphoepithelial lesions in NIH-category IV prostatitis: pathophysiological correlations.

The Canadian journal of urology
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Congenital Symptomatic Scaphoid-Trapezium Coalition in a Pediatric Patient With VACTERL Association.

Journal of hand surgery global online
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Cryoglobulinemia, monoclonal and mixed cryoglobulinemia syndromes, cryoglobulinemic vasculitis: a proposal for comprehensive nomenclature and definition.

Frontiers in immunology
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Right-Sided Aortic Arch Presenting as Chronic Cough in a 50-Year-Old Patient With DiGeorge Syndrome: A Report of a Rare Case.

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Using Orbital Atherectomy in ST-Elevation Myocardial Infarction: A Case Report From a Nonsurgical Centre.

Case reports in cardiology
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BMPR2 Splice-Site Variant in a Patient With Pulmonary Arteriovenous Malformation and Delayed-Onset Pulmonary Arterial Hypertension: A Case Report and Mechanistic Phenocopy Hypothesis.

American journal of medical genetics. Part A
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Repetitive post-tonsillectomy hemorrhage subsequently diagnosed as lupus anticoagulant-associated coagulopathy in a child.

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Risk Stratification in the Short-QT Syndrome: Findings From a Pooled Analysis.

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Serological and faecal markers of irritable bowel syndrome: a systematic review and meta-analysis.

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mTOR signaling pathway in primary Sjögren's syndrome: Pathogenesis and potential therapeutic targets (Review).

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A SCN1A missense variant (c.4522T>A, p.(Tyr1508Asn) associated with genetic epilepsy with febrile seizures plus: clinical phenotype and genetic analysis of a Chinese pedigree.

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Horns, nails, and leaky kidneys: A rare case of congenital nephrotic syndrome.

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Indian National Association for Study of the Liver Guidance Document on Difficult to Treat Autoimmune Hepatitis.

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A Sporadic Juvenile Gastric Polyp: An Endoscopic Rarity.

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Genome-wide DNA methylation profiling in COVID-19 positive patients reveals alterations in pathways linked to neurological dysfunction.

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Transesophageal Electrophysiological Study in Children Under 12 Years of Age with Asymptomatic Wolff-Parkinson-White Syndrome.

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European heart journal. Case reports
2026

A Rare Case of Concurrent SNRPB Mutation and 22q11.2 Microduplication in a Child With Cerebro-Costo-Mandibular Syndrome.

Case reports in genetics
2026

Association of SARS-CoV-2 infection with long-lasting increase in circulating IL-32 levels.

Frontiers in immunology
2026

Left Ventricular Pericardial Strangulation: A Diagnostic Challenge in Acute Coronary Syndrome.

Methodist DeBakey cardiovascular journal
2026

No significant association between Helicobacter pylori infection and Barrett's esophagus: results from a large screening cohort in Central Europe.

Scandinavian journal of gastroenterology
2026

Moyamoya Vasculopathy and Atypical Moyamoya-like Patterns: Insights into Diagnosis and Therapeutic Implications.

NeuroSci
2026

A review of reported bushmaster (Lachesis spp.) bites in the Americas.

Toxicon : official journal of the International Society on Toxinology
2026

Basal inferoseptal longitudinal strain deformation may indicate early cardiac involvement in wild-type carpal ATTR.

ESC heart failure
2026

Variable Expressivity in Type 2 Familial Partial Lipodystrophy Related to a Pathogenic LMNA Variant R482: Maternal Transmission to Non-Identical Twins.

The application of clinical genetics
2026

PCI Challenges in Congenital Pericardial Agenesis.

JACC. Case reports
2026

Lower limb biomechanics in femoroacetabular impingement syndrome, asymptomatic cam morphology, and controls during bilateral and single-leg squatting.

Gait &amp; posture
2026

The Impact of Advanced Surface Moisturizing Technologies on Contact Lens Comfort in Digital Platform Users.

Turkish journal of ophthalmology
2026

Experiences of self-identification, diagnosis and support for adults seeking a recognition of tic disorders in the United Kingdom.

Primary health care research &amp; development
2026

Multimodal management of hormonal and oncological progression in PTHrP-secreting pancreatic neuroendocrine tumours.

Endocrine oncology (Bristol, England)
2026

ACR Appropriateness Criteria® Nonthrombotic Iliac Vein Lesion.

Journal of the American College of Radiology : JACR
2026

A Prospective Study of Individuals at Risk of Multiple Sclerosis Informs the Design of Primary Prevention Studies.

Annals of clinical and translational neurology
2026

Purple Urine Bag Syndrome as a Visual Trigger for Overtreatment: A Case Report and Aggregated Literature Analysis.

Cureus
2026

Asymptomatic testing compared with standard care of the care home staff in shaping care home COVID-19 testing policy: the VIVALDI-CT pragmatic cluster RCT (VIVALDI-CT).

Health and social care delivery research
2025

Brugada syndrome risk scores: what we've learned and what's next.

Frontiers in cardiovascular medicine
2026

Hereditary diffuse gastric cancer: between underdiagnosis and overtreatment: a case series.

Frontiers in surgery
2026

A rare upstream regulatory region mutation in APC presenting as classical familial adenomatous polyposis: A case report and literature review.

Experimental and therapeutic medicine
2026

Ryanodine receptor 2 mutations in catecholaminergic polymorphic ventricular tachycardia: From molecular mechanisms to precision medicine.

World journal of cardiology
2026

B-cell maturation antigen-Targeted T-cell Engager Therapy Combined with B-cell Depletion for Treatment of Refractory HLA Sensitization.

Kidney international
2026

RNA-sequencing reveals ECM-remodeling and tumorigenesis in Pacific mackerel with Puffy Snout Syndrome.

Fish &amp; shellfish immunology
2026

Neonatal Behçet's syndrome: a case report and literature review.

Reumatismo
2026

Wide variations in the alpha angle reporting of the hip in asymptomatic individuals-a systematic review.

Journal of hip preservation surgery
2026

Primary Biliary Cholangitis Pathogenesis: A Pathophysiology-Based Narrative Review.

International journal of molecular sciences
2026

Meesmann Corneal Dystrophy with Epithelial Basement Membrane Abnormalities: Clinical and Genetic Analysis of Two Families with Novel and Known Mutations in KRT3 and KRT12.

International journal of molecular sciences
2026

The Role of Nut Sensitization in Pru p 3-Sensitized Patients: A XGBoost and Generalized Linear Model Application.

International journal of molecular sciences
2026

Clinical and Imaging Features of Aortic Penetrating Atherosclerotic Ulcers: A Systematic Review and Meta-Analysis.

Journal of clinical medicine
2026

Left Ventricular Noncompaction Syndrome.

Cardiology in review
2026

Perinatal arterial ischemic stroke (PAIS) and neonatal cerebral sinovenous thrombosis (CSVT) in the preterm neonate: a systematic review.

Pediatric research
2026

Successful long-term results (> 5 years) of superselective transarterial chemoembolization in symptomatic/enlarging liver hemangiomas: a paradigm shift at a hepatopancreatobiliary surgery unit.

Frontiers in medicine
2026

Extra-anatomic bypass for aortic obstruction below the renal arteries with bilateral iliac artery occlusion treatment: a case report.

Annals of medicine and surgery (2012)
2026

Increased Arrhythmia Risk in Long COVID: A Systematic Review and Meta-Analysis.

Journal of arrhythmia
2026

Semicircular canal aplasia: radiologic spectrum and clinical correlations on computed tomography and magnetic resonance imaging.

Diagnostic and interventional radiology (Ankara, Turkey)
2026

Onset of Ocular Abnormalities in Children with Hearing Loss.

Ophthalmology
2026

Isolated Pulmonary Light Chain Deposition Disease.

European journal of case reports in internal medicine
2026

Pentalogy of Cantrell: Comprehensive Multimodal Imaging Evaluation in an Adult With Ectopia Cordis.

JACC. Case reports
2026

REM Sleep-Associated Asystole.

JACC. Case reports
2026

Vulvar Necrosis Following Uterine Artery Embolisation for Uterine Fibroid Treatment: A Case Report and Literature Review.

Cureus
2026

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

Ear and hearing
2026

Paediatric colchicine poisoning in the UK: a 10-year retrospective case series from the National Poisons Information Service.

Archives of disease in childhood
2026

Serum S100A8 as a potential biomarker for diagnosis of antiphospholipid syndrome and risk stratification among aPL carriers.

Lupus science &amp; medicine
2026

Inpatient initiation of tuberculosis preventive therapy with 1 month of isoniazid and rifapentine for adults with advanced HIV disease and cryptococcal meningitis (IMPROVE): a non-inferiority, randomised controlled trial.

The lancet. HIV
2026

Evaluation of Strongyloides stercoralis Ss-IR Recombinant Antigen Using a Bead-Based Immunoassay.

The American journal of tropical medicine and hygiene
2026

Acute cyclosporine overdose in a child with nephrotic syndrome: a case report and literature review.

Frontiers in pediatrics
2026

Optic nerve and susceptibility imaging at asymptomatic stage of multiple sclerosis: impact and predictive value.

Brain communications
2026

Human Intestinal Spirochetosis as a Cause of Chronic Diarrhea in an Immunocompetent Patient: A Case Report.

Cureus
2026

Exploring the pathogenicity and genotype-phenotype correlation of 16p13.11 microduplication: a report of two cases.

Translational pediatrics
2026

Coronal Clival Cleft: Estimated Prevalence and Clinical Associations in a Pediatric Cohort.

AJNR. American journal of neuroradiology
2025

Feasibility and impact of Lynch syndrome genetic testing in newly diagnosed colorectal cancer patients: a multicenter observational study in Greece.

ESMO gastrointestinal oncology
2025

[Genetic re-analysis of a Chinese pedigree affected with Hypertrophic cardiomyopathy due to a heterozygous truncating variant of ALPK3 gene and literature review].

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

Clinical application of dynamic visual acuity for detection of eye diseases: a scoping review protocol.

BMJ open
2026

Epidemiology and genomic features of MERS coronavirus in Africa: a systematic and meta-analysis review.

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

[Application of molecularly imprinted polymers-based sensors for determination of acute coronary syndrome biomarkers].

Se pu = Chinese journal of chromatography
2026

Cerebral Calcification and Treatment-Resistant Seizures: A Rare Syndromic Presentation of Pseudohypoparathyroidism-A Case Report.

AACE endocrinology and diabetes
2026

[A case of cryptogenic stroke with platypnea-orthodeoxia syndrome and paroxysmal atrial fibrillation].

Rinsho shinkeigaku = Clinical neurology
2026

[Chinese expert consensus on the diagnosis and treatment of Becker muscular dystrophy].

Zhonghua nei ke za zhi
2025

Sacral Tarlov cysts and spontaneous persistent genital arousal: 2 unrecognized and underappreciated health conditions with an uncertain relationship.

AJOG global reports
2026

Expanding the Genetic Landscape of ATXN2 Variants: Insights From a Biallelic Trinucleotide Repeat Expansion in an Acadian Family.

Neurology. Genetics
2026

High-risk atherosclerotic plaque features, covert brain infarcts, and cognitive performance: a cross-sectional analysis of the carotid artery multi-modality imaging prognostic study.

European journal of preventive cardiology
2026

Is Carbon Monoxide Poisoning a Potential Trigger for Spontaneous Coronary Artery Dissection? A Case Report and Review of the Literature.

Turk Kardiyoloji Dernegi arsivi : Turk Kardiyoloji Derneginin yayin organidir
2026

Literature review of leukoencephalopathy with calcifications and cysts and a case report.

Frontiers in neuroscience
2025

Severe Recurrent Gastrointestinal Bleeding and Diagnostic Dilemmas in Zollinger-Ellison Syndrome: A Case Report.

GE Portuguese journal of gastroenterology
2026

Vasoproliferative-Like Retinal Tumors Associated With Retinal Vasculitis in Behçet's Syndrome: Two Case Reports and Literature Review.

Ocular immunology and inflammation
2026

Prospective observational study of magnetic resonance imaging in anti-CD19 CAR T-cell-associated neurotoxicity.

Journal of neurology
2026

Non-Functional Paraganglioma of the Urinary Bladder: A Rare Cause of Bladder Tumor.

IJU case reports
2025

A novel heterozygous WFS1 variant of uncertain significance in a patient with early-onset diabetes: a case report.

Frontiers in endocrinology
2026

Alterations in CSF Amyloid-β and Tau Biomarkers in Former College and Professional American Football Players: Findings from the DIAGNOSE CTE Research Project.

Journal of neurotrauma
2026

Environmental risk factors and conversion to multiple sclerosis in subjects with radiologically isolated syndrome: a case-control study.

Journal of neurology
2026

The clinical significance of the Mediterranean fever gene MEFV variants in Castleman disease.

Communications medicine
2026

46,XY Gonadal Dysgenesis Due to NR0B1 Duplication: A Systematic Review.

Clinical endocrinology
2026

Pancreatic Mucinous Cystic Neoplasms Following GLP-1 Receptor Agonists Use: A Report of Two Cases with Literature Review.

Journal of gastrointestinal cancer
2026

Asymptomatic Asystolic Carotid Sinus Hypersensitivity Predicts Asystolic Events During ILR Monitoring in Reflex Syncope Patients.

JACC. Clinical electrophysiology
2026

Sustained Transmural Drainage with Plastic Stents After LAMS Removal in Disconnected Pancreatic Duct Syndrome: Evidence from a Systematic Review and Meta-Analysis.

Revista espanola de enfermedades digestivas
2026

Liver Lipodystrophy in Barraquer-Simons Syndrome: How Much Should We Worry About?

Life (Basel, Switzerland)
2025

Postnatally Acquired Neonatal CMV Infection in Preterm Infants: From a Case Series to a Narrative Review of the Literature.

Children (Basel, Switzerland)
2026

Thickening of Dorsal Foot Nerves: A Frequent Sonographic Finding in Asymptomatic Volunteers, Potentially Leading to False Positive Results.

Diagnostics (Basel, Switzerland)
2026

Association of nephrolithiasis history with adverse outcomes in cardiovascular-kidney-metabolic syndrome.

Renal failure
2026

Deficits in dynamic stability revealed by the Y-Balance test in middle-aged and elderly adults with patellofemoral pain.

Journal of orthopaedic surgery and research
2026

Atrioventricular area difference assessed by exercise cardiovascular magnetic resonance shows impaired diastolic filling in patients with heart failure.

Journal of applied physiology (Bethesda, Md. : 1985)
2026

Risk factors analysis for small bowel polyp recurrence in children with Peutz-Jeghers syndrome: A retrospective cohort study.

Journal of pediatric gastroenterology and nutrition
2026

Pathological diagnosis and therapeutic management of hereditary leiomyomatosis and renal cell carcinoma syndrome-associated renal cell carcinoma.

International cancer conference journal
2026

Paramagnetic Rim Lesions and Development of Clinical MS in Radiologically Isolated Syndrome.

JAMA neurology
2025

S100 Protein and Interleukin Biomarkers Among COVID-19 Subjects With and Without Pneumonia: A Systematic Review and Meta-Analysis.

British journal of biomedical science
2025

Case Report: A case of heart failure recovery after non-ischemic cardiomyopathy following chimeric antigen receptor T-cell therapy.

Frontiers in cardiovascular medicine
2025

Long Segment Coarctation of the Abdominal Aorta in a 12-Year-Old Patient: A Case Report.

Cureus
2025

Severe left ventricular dilatation and mitral regurgitation secondary to ALCAPA in childhood: a case report.

Archivos peruanos de cardiologia y cirugia cardiovascular
2026

Pectoralis minor tenotomy in the treatment of painful shoulder syndromes associated with scapular dyskinesis.

Journal of shoulder and elbow surgery
2026

Standing anterior pelvic tilt is correlated with the proximal femur shape of individuals with cam morphology.

Clinical biomechanics (Bristol, Avon)
2026

Coronavirus disease 19 death among infants with complications of severe acute malnutrition, Kenema district, Sierra Leone, June 2020: a case series.

Journal of medical case reports
2026

Absenteeism related to respiratory infections among healthcare personnel in hospitals in Greece from 2020-2021 to 2024-2025.

Vaccine
2026

Severe Hypocalcemia in Hungry Bone Syndrome After Parathyroid Surgery: A Case Study and Review.

The American journal of case reports
2025

[Asymptomatic ventricular pre-excitation].

La Revue du praticien
2026

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

CNS neuroscience &amp; therapeutics
2025

Preoperative Botulinum Toxin for Complex Diaphragmatic Paralysis: A Case Series.

Journal of abdominal wall surgery : JAWS
2025

Contrasting immune responses in COVID-19: insights from healthcare workers and infected patients on plasmablast, pDC, and NK cell dynamics.

Frontiers in immunology
2026

Brugada Syndrome: New Implications for Heterozygous Carriers of the Pathogenic SCN5A c.689T>C(p.Ile230Thr) Variant.

American journal of medical genetics. Part A
2026

CD40-CD40L inhibition attenuates platelet-neutrophil interaction and neutrophil extracellular trap release in primary antiphospholipid syndrome.

Annals of the rheumatic diseases
2026

Immune evasion and pathogenesis of henipaviruses.

Current opinion in virology
2025

Postinfectious Syndromes and Long-Term Sequelae after Giardia Infections.

Emerging infectious diseases
2026

People With Marfan Syndrome Utilize an Ankle Dominant Strategy to Perform the Sit-to-Stand Task.

Journal of applied biomechanics
2025

Salivary cortisol in long COVID: a marker of broader stress system and circadian rhythm dysregulation.

Frontiers in cellular and infection microbiology
2026

Estimation of white spot syndrome virus severity grades dynamics in whiteleg shrimp (Penaeus vannamei) during the disease transition process.

Journal of invertebrate pathology
2026

Lymphoid malignancy and clonality in the POT1-mediated long telomere syndrome.

Blood
2026

Annular Pancreas Presenting with Intermittent Duodenal Obstruction in Early Childhood: A Diagnostic Masquerade.

Reports (MDPI)
2026

Exercise stress test unmasking a Brugada pattern in a survivor of cardiac arrest: a case report.

European heart journal. Case reports
2025

Prevalence of Metabolic Dysfunction-Associated Steatotic Liver Disease Among Overweight and Obese Patients With Type 2 Diabetes Mellitus.

Cureus
2026

Unraveling the Genetic Mysteries of Müllerian Anomalies: Research Approaches and Clinical Significance.

Clinical genetics
2026

Pinch-off syndrome leading to catheter fracture: a rare complication of central venous port systems, a case report.

BJR case reports
2025

Cardiac metastasis of urothelial carcinoma mimicking ST-elevation myocardial infarction.

Klinicka onkologie : casopis Ceske a Slovenske onkologicke spolecnosti
2026

Assessment of impact of low-flow state on long-term outcome in multiethnic population using cardiac magnetic resonance.

American journal of physiology. Heart and circulatory physiology

Associações

Organizações que acompanham esta doença — pra ter apoio e orientação

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Comunidades

Grupos ativos de quem convive com esta doença aqui no Raras

Ainda não existe comunidade no Raras para Síndrome de hiperCKemia-mialgia-rabdomiólise assintomática

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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. Consensus statements of the Hellenic Autoimmune Liver Diseases Study Group on the diagnosis and current management of primary biliary cholangitis.
    Annals of gastroenterology· 2026· PMID 41868880mais citado
  2. Respiratory syndromic disease study in Shanghai community population.
    BMJ open· 2026· PMID 41857851mais citado
  3. Defective RNA Polymerase III sensing of mitochondrial DNA in pulmonary epithelial cells impairs type I IFN immunity to SARS-CoV-2.
    Proceedings of the National Academy of Sciences of the United States of America· 2026· PMID 41838921mais citado
  4. [Clinical and genetic characteristics of 15 pediatric cases of long QT syndrome type 2 caused by KCNH2 variants].
    Zhonghua er ke za zhi = Chinese journal of pediatrics· 2026· PMID 41834208mais citado
  5. Guideline-based diagnosis and management of congenital platelet function disorders: Current insights and future directions.
    Blood reviews· 2026· PMID 41832129mais citado
  6. The STING HAQ haplotype and clinical non-penetrance in COPA syndrome.
    J Exp Med· 2026· PMID 41805977recente
  7. Cryoglobulinemia, monoclonal and mixed cryoglobulinemia syndromes, cryoglobulinemic vasculitis: a proposal for comprehensive nomenclature and definition.
    Front Immunol· 2026· PMID 41798958recente
  8. Severe Hypocalcemia in Hungry Bone Syndrome After Parathyroid Surgery: A Case Study and Review.
    Am J Case Rep· 2026· PMID 41575910recente
  9. Postinfectious Syndromes and Long-Term Sequelae after Giardia Infections.
    Emerg Infect Dis· 2025· PMID 41570191recente
  10. Cannabis Use Patterns and Blood Profiles in Adolescent Cannabinoid Hyperemesis Syndrome.
    Pediatr Emerg Care· 2026· PMID 41088881recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:689021(Orphanet)
  2. MONDO:0975918(MONDO)
  3. Variantes catalogadas(ClinVar)
  4. 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 de hiperCKemia-mialgia-rabdomiólise assintomática

ORPHA:689021 · MONDO:0975918
CID-10
G71.8 · Outros transtornos primários dos músculos
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