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Síndrome de microftalmia-atrofia cerebral
ORPHA:77299CID-10 · Q11.2CID-11 · LD21.0OMIM 611222DOENÇA RARA

A síndrome de microftalmia-atrofia cerebral (MOBA) é uma doença neurodegenerativa genética rara caracterizada por microftalmia congênita, olhos fundos, cegueira, microcefalia, deficiência intelectual grave, espasticidade progressiva e convulsões. O desenvolvimento psicomotor é normal nos primeiros 6-8 meses de vida e depois disso diminui rápida e continuamente. A ressonância magnética cerebral revela alterações degenerativas progressivas e extensas, especialmente atrofia do córtex, cerebelo, tronco cerebral e corpo caloso, com perda completa da substância branca cerebral.

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Introdução

O que você precisa saber de cara

📋

A síndrome de microftalmia-atrofia cerebral (MOBA) é uma doença neurodegenerativa genética rara caracterizada por microftalmia congênita, olhos fundos, cegueira, microcefalia, deficiência intelectual grave, espasticidade progressiva e convulsões. O desenvolvimento psicomotor é normal nos primeiros 6-8 meses de vida e depois disso diminui rápida e continuamente. A ressonância magnética cerebral revela alterações degenerativas progressivas e extensas, especialmente atrofia do córtex, cerebelo, tronco cerebral e corpo caloso, com perda completa da substância branca cerebral.

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
3
pacientes catalogados
Início
Neonatal
🏥
SUS: Cobertura mínimaScore: 15%
CID-10: Q11.2
🇧🇷Dados SUS / DATASUS
PROCEDIMENTOS SIGTAP (5)
0202010503
Cariótipo — bandas G, Q ou Rgenetic_test
0202010600
Pesquisa de microdeleções/microduplicações por FISHlab_test
0202010694
Sequenciamento completo do exoma (WES)rehabilitation
0202010260
Dosagem de alfa-fetoproteína
0301070040
Atendimento em reabilitação — doenças raras
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Sinais e sintomas

O que aparece no corpo e com que frequência cada sintoma acontece

Partes do corpo afetadas

🧠
Neurológico
11 sintomas
🫃
Digestivo
1 sintomas
👁️
Olhos
1 sintomas

+ 7 sintomas em outras categorias

Características mais comuns

90%prev.
Microftalmia bilateral
Muito frequente (99-80%)
90%prev.
Cegueira
Muito frequente (99-80%)
55%prev.
Espasticidade
Frequente (79-30%)
55%prev.
Atrofia/Degeneração afetando o tronco cerebral
Frequente (79-30%)
55%prev.
Choro inapropriado
Frequente (79-30%)
55%prev.
Regressão do desenvolvimento
Frequente (79-30%)
20sintomas
Muito frequente (2)
Frequente (11)
Ocasional (7)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 20 características clínicas mais associadas, ordenadas por frequência.

Microftalmia bilateralBilateral microphthalmos
Muito frequente (99-80%)90%
CegueiraBlindness
Muito frequente (99-80%)90%
EspasticidadeSpasticity
Frequente (79-30%)55%
Atrofia/Degeneração afetando o tronco cerebralAtrophy/Degeneration affecting the brainstem
Frequente (79-30%)55%
Choro inapropriadoInappropriate crying
Frequente (79-30%)55%

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa1desde 2026
Últimos 10 anos200publicações
Pico2026192 papers
Linha do tempo
2026Hoje · 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

🧬

Nenhum gene associado encontrado

Os dados genéticos desta condição ainda estão sendo catalogados.

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 microftalmia-atrofia cerebral

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Selecione um estado ou use sua localização para ver resultados.

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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

Znhit3 regulates p53/p21 signaling and governs cerebellar granule cell development.

Cell death and differentiation2026 Mar 19

Mutations in ZNHIT3 are strongly associated with progressive encephalopathy with edema, hypsarrhythmia and optic atrophy (PEHO syndrome), characterized by severe cerebellar atrophy and profound intellectual disability; however, their role in cerebellar development remains unknown. By developing spatiotemporally-regulated conditional Znhit3 knockout mice, we discovered that Znhit3 is essential for granule cell progenitor survival, proliferation, differentiation, and migration. Knockout of Znhit3 caused loss of granule cell progenitors due to apoptosis, premature cell-cycle exit, and migration arrest and resulted in progressive anterior-lobe atrophy and motor deficits. The granule cell progenitor-autonomous defects secondarily impaired Purkinje cell alignment, dendritic maturation, and synaptic organization. Transcriptomic analyses revealed activation of the p53/p21 pathway, rRNA processing defects, and nucleolar stress. Genetic or pharmacologic inhibition of p53/p21 signaling rescued granule cell progenitor development and restored cerebellar architecture in the Znhit3-knockout mice. Thus, ZNHIT3 is a critical regulator of ribosome biogenesis and cerebellar growth, suggesting nucleolar stress-p53/p21 signaling as a potential therapeutic target in ZNHIT3-related disorders.

#2

Local Translation in Glial Cells of the Brain.

Annual review of cell and developmental biology2026 Mar 16

Local protein synthesis is a conserved mechanism that allows cells with intricate architectures to perform compartment-specific functions. By translating messenger RNAs (mRNAs) at distinct subcellular locations, cells can respond swiftly and precisely to localized stimuli. This strategy is crucial in neurons, whose long processes extend far from the cell body. Disruptions in neuronal local translation have been implicated in neurological disorders, including fragile X syndrome, amyotrophic lateral sclerosis, and spinal muscular atrophy. While much of the spotlight has been on neurons, glial cells-microglia, astrocytes, oligodendrocytes, and radial glia-are increasingly recognized for their own dynamic use of local translation. These support cells exhibit asymmetric mRNA localization, suggesting that local protein synthesis plays key roles in their diverse functions. This review explores the emerging landscape of local translation in glial cells and examines how this finely tuned process contributes to both normal brain function and the development of neurological disease.

#3

High-Fat Diet Anticipates Age-Related Sarcopenia Through Increased Oxidative Stress and Inflammation.

British journal of biomedical science2026

Ageing, a physiological process, and obesity, a pathological condition, are both associated with several metabolic alterations including energy imbalance, altered body composition, chronic low-grade inflammation, lipotoxicity, glucotoxicity, insulin resistance and mitochondrial dysfunctions. During ageing mitochondrial capacity declines and oxidative stress increases. However, the biphasic model of age-associated mitochondrial functions indicates that, before the ageing-associated decrease in mitochondrial respiration, this parameter increases in the transition from young adult to middle-aged, with a concomitant mild increase in ROS production that stimulates an antioxidant response, limiting the ageing-associated damages. Ageing-associated body composition changes can lead to sarcopenia, one of the most debilitating dysfunctions in the elderly. The sarcopenia is a known geriatric syndrome characterized by the loss of muscle mass and strength and mitochondria dysfunctions. These alterations of the disease can be exacerbated by obesity. Here, in an experimental animal model of diet-induced obesity, we evaluated the time-course changes in body composition, inflammatory and oxidative stress parameters, mitochondrial functions and antioxidant responses. Male Wistar rats at 60 days of age were divided into two experimental groups: the first group received a standard diet; the second group received a high-fat diet (HFD). The animals from both groups were fed with the appropriate diet for 1, 3, 6, 12, or 24 weeks (n = 6 for each group and time point). At each time point, the animals were sacrificed and dissected to obtain the organs and tissues needed for analysis. Our results clearly showed the contribution of high-fat diet in anticipating and worsening the metabolic and inflammatory alterations associated with age, in particular, highlighting the role of mitochondria in attempting the regulation of physiological alterations typical of aging. In the HFD group the antioxidant defences fail their job because of the additional inflammation and oxidative stress due to the diet. HFD is related to decreased animals' activity. Thus, cannot be excluded that the reduced physical activity may contribute, at least in part, to the impaired mitochondrial functions in the skeletal muscle of HFD rats. Altogether, our results clearly highlighted the contribution of HFD in anticipating and worsening the metabolic and inflammatory alterations associated with aging, including sarcopenia.

#4

A Novel Phenotypic Presentation of Absence Seizures in a 15-Month-Old with PIGK-Related GPI Biosynthesis Disorder: A Case Report.

Case reports in neurology2026

PIGK-related glycosylphosphatidylinositol (GPI) biosynthesis disorder is an extremely rare neurodevelopmental condition, with only 12 cases described to date. It is caused by biallelic mutations in the PIGK gene, which encodes a catalytic subunit of the GPI transamidase complex. This enzyme facilitates the attachment of GPI anchors to proteins crucial for cellular signaling and development. Eight of the 12 described cases were reported to have seizures, but the electroclinical characteristics are not well defined. We report a 15-month-old female who presented with global developmental delay, hypotonia, oral dysphagia, nystagmus, and cerebellar atrophy on MRI. Abnormal movements occurred at 10 months of age with intermittent, brief right arm tremors initially presumed to be benign myoclonus of infancy. However, subsequent 24-h video EEG revealed classic 3-Hz generalized spike-and-wave discharges with clinical correlates of behavioral arrest previously unrecognized, confirming a diagnosis of absence seizures - a feature not previously reported in the literature for PIGK-related disorders. Whole exome sequencing confirmed biallelic PIGK pathogenic variants. To our knowledge, this is the first reported case of typical absence seizures with 3-Hz generalized spike-and-wave discharges in a very young patient with confirmed PIGK mutation. Our report expands the known electroclinical phenotype of GPI-anchor deficiencies, suggesting the need to screen for subtle generalized epilepsy syndromes like absence, among affected infants. This case highlights a novel EEG phenotype in PIGK-related GPI biosynthesis disorder underscoring the relevance of early EEG evaluation in infants with this extremely uncommon neurogenetic disorder.

#5

Chronological Diagnostic Algorithm Predicting Neuropathology in Parkinsonism.

Annals of neurology2026 Mar 14

Pre-mortem diagnosis of parkinsonism is often challenging due to atypical presentations, overlapping syndromes, and co-pathologies. This study aimed to develop a machine learning-based algorithm predicting neuropathology in parkinsonism using chronological clinical presentations, which has previously been underexplored. Clinical information was automatically abstracted from medical records of the Mayo Clinic Brain Bank using fine-tuned Generative Pre-trained Transformer 4 models. Patients who developed parkinsonism within 3 years of disease onset were included. Six machine learning models were trained with age, sex, family history, and 197 clinical presentations paired with onset information to predict neuropathologic diagnoses, including co-pathologies. Among 7,825 donors, 949 met inclusion criteria, representing 9 neuropathologic categories: Lewy body disease (LBD; n = 128), LBD with Alzheimer's disease (AD; n = 136), progressive supranuclear palsy (PSP; n = 303), PSP with AD (n = 56), PSP with LBD (n = 27), multiple system atrophy (MSA; n = 120), corticobasal degeneration (CBD; n = 99), AD (n = 43), and frontotemporal lobar degeneration (FTLD; n = 37). The CatBoost algorithm achieved an area under the receiver operating characteristic curve of 0.83 across the 9 diagnostic categories at 3 years after onset. Important predictors included age at onset, restricted eye movement, and tremor. The model remained robust to incomplete data, requiring only 23 of 200 parameters for reliable predictions with an area under the curve of 0.80. The algorithm was implemented into a user-friendly program providing diagnostic probabilities with visualizations of parameter contributions. This neuropathology-confirmed diagnostic algorithm provides a cost-effective and interpretable screening tool for parkinsonism, bridging biomarker testing and molecular-targeted therapies. ANN NEUROL 2026.

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Nutrients
2026

Pteridium aquilinum (L.) Kuhn-A Review of Its Toxicology, Pharmacology, and Phytochemistry.

Plants (Basel, Switzerland)
2026

FSTIV score is essential for clinical management and predicts outcome of idiopathic membranous nephropathy.

BMC nephrology
2026

Outcomes of endoscopic transcapsular iliopsoas tenotomy for snapping hip syndrome: Minimum 10-year follow-up.

Journal of experimental orthopaedics
2026

Management of Pathological Dental Attrition in Prader-Willi Syndrome: A Case Report Using the Personalized Radboud Strategy.

Special care in dentistry : official publication of the American Association of Hospital Dentists, the Academy of Dentistry for the Handicapped, and the American Society for Geriatric Dentistry
2026

Imaging the hidden player: Choroid plexus enlargement in multiple sclerosis.

Autoimmunity reviews
2026

cN1A Antibody-Positive Inclusion Body Myositis Following Seminoma Manifesting With Slowly Progressive Paraparesis: A Case Report.

Cureus
2026

Glomerular Transcriptome Analysis Reveals Endothelial Disturbances in Patients With Idiopathic Nephrotic Syndrome.

Kidney medicine
2026

Early onset scoliosis in syndromic and neuromuscular disorders: A multidisciplinary approach.

Journal of clinical orthopaedics and trauma
2026

The triglyceride-glucose index as an independent associate of severe tubulointerstitial fibrosis and a predictor of renal survival in IgA nephropathy.

Frontiers in endocrinology
2026

Current Neuroimaging Modalities to Distinguish Parkinson's Disease from its Mimics: Imaging Features and Implications for Clinical Practice.

The neuroradiology journal
2026

Successful Treatment of Multifocal Demyelinating Sensory-Motor Neuropathy (Lewis-Sumner Syndrome) With Rituximab: A Case Report.

The American journal of case reports
2026

Fever and syndrome of inappropriate antidiuretic hormone secretion in a patient with multiple system atrophy after treatment with duloxetine.

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology
2026

Tropical sprue: a narrative review of a neglected malabsorption syndrome.

Gut pathogens
2026

Combination of 0.09% cyclosporine and intense pulsed light (IPL) therapy for the treatment of dry eye disease in symptomatic contact lens wearers: study protocol for a sham-controlled randomized clinical trial.

Trials
2026

Continuous subcutaneous apomorphine infusion to improve comfort in advanced degenerative Parkinsonian syndrome patients: a retrospective descriptive study in a home-based setting.

Parkinsonism &amp; related disorders
2026

Neurological Consequences of Infantile Vitamin B12 Deficiency - A Prospective Cohort Study.

Pediatric neurology
2026

MSTO1-related mitochondrial myopathy and ataxia syndrome: Case series and literature review.

Neuromuscular disorders : NMD
2026

Simultaneous perfusion and dopaminergic imaging using dual-isotope CZT SPECT/CT in dementia with Lewy bodies.

EJNMMI research
2026

Endocrinological aspects of sarcopenic obesity.

Annals of medicine
2026

CSF1R-related leukoencephalopathy presenting with early apathy, hypoactivity, and cognitive flattening: a case report of a diagnostic challenge.

Frontiers in human neuroscience
2026

Revisiting pathologic myopia: imaging evidence of an inflammatory component in the pathogenesis of myopic degeneration.

Frontiers in medicine
2026

Systematic analysis of homozygous autosomal copy number losses in exomes improves diagnostic yield and uncovers ultra-rare recessive disorders.

medRxiv : the preprint server for health sciences
2026

[Ocular manifestations of Malan syndrome: a case report].

[Zhonghua yan ke za zhi] Chinese journal of ophthalmology
2026

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

Progress in retinal and eye research
2026

Status Epilepticus in Children With Hemophagocytic Lymphohistiocytosis: Literature Review.

Journal of child neurology
2026

An Apparently Isolated Optic Neuropathy Associated with Biallelic Variants in SLC25A46 Gene Encoding the Mitochondrial Ugo1-Like Protein.

Neuro-ophthalmology (Aeolus Press)
2026

Neuro-Ophthalmic Manifestations of Suprasellar Pilomyxoid Astrocytoma.

Neuro-ophthalmology (Aeolus Press)
2026

The role of toll-like receptor 7 signaling in mice infected by severe fever with thrombocytopenia syndrome virus.

Scientific reports
2026

Physical performance transition and the risk of adverse health outcomes among community-dwelling older adults with or without fatigue.

Scientific reports
2026

Largely Distinct Post-Translational Modifications Differentiate Skeletal Muscle Wasting Caused by Cancer, Dexamethasone and Aging.

Journal of cachexia, sarcopenia and muscle
2026

Minimally Invasive Endoscopic Palmaris Longus Abductorplasty for Severe Carpal Tunnel Syndrome and Thenar Muscle Paralysis Reconstruction.

Plastic and reconstructive surgery. Global open
2026

A notable case of primary progressive freezing of gait associated with parietal cortical atrophy.

BMC neurology
2026

Neuroimaging of tic disorders.

Handbook of clinical neurology
2026

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

Neurology. Genetics
2026

Distinct alterations of adiponectin, fibroblast growth factor 21 (FGF-21), and insulin-like growth factor binding protein 2 (IGFBP-2) link dysmetabolism with cognitive decline across the Alzheimer's disease spectrum.

Alzheimer's &amp; dementia : the journal of the Alzheimer's Association
2026

Clinical, Radiological and Molecular Genetic Findings in Six New Cases with Rothmund-Thomson Syndrome: Evidence for a Founder RECQL4 Variant.

Klinische Padiatrie
2026

Mixed Nonfluent/Agrammatic Primary Progressive Aphasia and Behavioral Variant Frontotemporal Dementia: A Case Report From Tanzania.

Alzheimer disease and associated disorders
2026

Effects of branched-chain amino acids on iron deficiency-induced muscle atrophy.

Biochemistry and biophysics reports
2026

A Case of Late Radiation-Induced Enteritis with Enterolith Caused Enterocutaneous Fistula.

Surgical case reports
2026

Association of mild cognitive impairment and obesity-metabolic status in middle-aged and elderly adults: a nationwide prospective cohort study.

Journal of neurology
2026

Gulf War Illness: Neurological Impacts, Pathophysiological Insights, and Therapeutic Prospects.

Molecular neurobiology
2026

Iatrogenic botulism: a risk for botulinum toxin's medical use?

Journal of neural transmission (Vienna, Austria : 1996)
2026

Gray matter atrophy and structural connectivity in Posterior Cortical Atrophy: A voxel-based meta-analysis.

Neuroscience and biobehavioral reviews
2026

Aesthetically relevant symptoms of menopause transition: Impact and approach to management.

Clinics in dermatology
2026

Polygenic risk score for lower limb skeletal muscle mass and its interaction with protein and vitamin D intake in older adults.

Nutrition (Burbank, Los Angeles County, Calif.)
2026

Sleep in children with spinal muscular atrophy and their caregivers: Exploring sleep problems and the need for care.

Research in developmental disabilities
2026

Stem cell therapy in thin endometrium and Asherman's syndrome: a systematic review and meta-analysis.

European journal of obstetrics, gynecology, and reproductive biology
2026

Histopathological evaluation in post-mortem renal biopsies of patients with COVID-19 and comorbidities: a case-control study.

Sao Paulo medical journal = Revista paulista de medicina
2025

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

Frontiers in endocrinology
2026

Autosplenectomy in a Patient With Autoimmune Polyglandular Syndrome Type 2 (APS-2).

Case reports in endocrinology
2025

Severe Unilateral Iliopsoas Atrophy After Dysplastic Hip Arthroplasty Leading to Recurrent L4/L5 Disc Degeneration: A Report of a Biomechanical Case.

Cureus
2026

Chest muscle area, spleen density, CD4 + T%, and C4 to predict the development of interstitial lung disease in patients with Sjögren's syndrome: a clinical prediction model.

Clinical rheumatology
2026

[Diagnosis and prevention of sarcopenic obesity should be emphasized].

Zhonghua yi xue za zhi
2026

Percutaneous endoscopic gastrostomy in atypical parkinsonian syndromes: survival and aspiration outcomes from a retrospective international cohort.

The New Zealand medical journal
2026

[XVII Post-ECTRIMS Meeting: Review of the New Developments Presented at the 2024 ECTRIMS Congress (I)].

Revista de neurologia
2026

Perforated solitary mid-rectal diverticulum diagnosed with colonoscopy: a case report and literature review.

Journal of surgical case reports
2026

Molecular hydrogen therapy in musculoskeletal conditions: An evidence-based review and critical analysis.

World journal of orthopedics
2026

Parsonage-Turner syndrome: current perspectives on etiology, diagnosis, and management.

Clinics in shoulder and elbow
2026

The Clinical Impact of Sarcopenia and Delirium in Hospitalized Elderly Patients: An Analysis Using Muscle Ultrasound.

Journal of cachexia, sarcopenia and muscle
2026

Microbes and ageing beyond the gut: the oral microbiome and frailty, sarcopenia and neurocognitive disorders in the elderly - a scoping review protocol.

BMJ open
2026

Distinct thalamic functional connectivity and volume patterns across focal epilepsies in children: A multimodal neuroimaging study.

Epilepsia
2025

Suprascapular nerve entrapment syndrome caused by a spinoglenoid notch cyst with a concomitant giant lipoma: a case report.

Frontiers in surgery
2025

Post-radiation levator ani atrophy is associated with worse Low Anterior Resection Syndrome score after nonoperative management for locally advanced rectal cancer: a potential MRI biomarker.

Frontiers in oncology
2025

Effect of Baduanjin exercise on sarcopenia in older adult patients: a multicenter, randomized controlled trial.

Frontiers in public health
2025

Efficacy and safety of adjunctive Chinese herbal decoction in treating Helicobacter pylori-positive chronic atrophic gastritis: a real-world retrospective study.

Frontiers in medicine
2026

High Prevalence of Probable Sarcopenia and Its Associations with Nutrition, Cognitive, and Physical Function in Hospitalized Patients with Alzheimer's Clinical Syndrome: A Cross-Sectional Study.

Nutrients
2026

Hereditary Ataxias: From Pathogenesis and Clinical Features to Neuroimaging, Fluid, and Digital Biomarkers-A Scoping Review.

International journal of molecular sciences
2026

Retinal Thickness Profiles in Parkinsonian Syndromes: Discerning Parkinson's Disease, Multiple System Atrophy, and Progressive Supranuclear Palsy via Optical Coherence Tomography.

Biomedicines
2026

Clinical Phenotypes and Prognosis of Anti-mGluR1 Encephalitis: A Single-Center Case Series and Comprehensive Literature Review.

Diagnostics (Basel, Switzerland)
2026

Pigmentary Retinopathy in Alagille Syndrome: Fundus Findings in a Two-Year-Old Boy.

Diagnostics (Basel, Switzerland)
2026

Tongue atrophy following unexplained nausea, vomiting, and hiccups.

European journal of internal medicine
2026

[Pathology of the digestive system organs in post-COVID syndrome according to autopsy data from 2021-2024].

Arkhiv patologii
2026

Intravaginal dehydroepiandrosterone for the treatment of vulvovaginal atrophy: a systematic review and meta-analysis.

Menopause (New York, N.Y.)
2026

Research Progress on the Intervention of Traditional Chinese Medicine Monomers on Signaling Pathways Related to Sarcopenia and Osteoporosis.

Current protein &amp; peptide science
2026

Paediatric caecal volvulus, a rare presentation of african degenerative leiomyopathy - a case report.

International journal of colorectal disease
2026

Potential role of MRI to optimize clinical trial design for progressive supranuclear palsy and corticobasal degeneration.

The journal of prevention of Alzheimer's disease
2026

Association between osteosarcopenia and frailty in older adults: a systematic review and meta-analysis.

BMC geriatrics
2026

[Clinical and histological evaluation of fractional CO2 laser treatment for genitourinary syndrome of menopause].

Gynecologie, obstetrique, fertilite &amp; senologie
2025

Structural brain MRI abnormalities in SCN1A-, SCN2A-, SCN3A-, and SCN8A-related epilepsies: a cohort study.

Frontiers in neurology
2026

Reverse End-to-Side Abductor Digiti Minimi-to-Recurrent Motor Branch Nerve Transfer for Severe Carpal Tunnel Syndrome: Report of Three Cases.

Microsurgery
2025

Case Report: management of refractory glaucoma secondary to Sturge-Weber syndrome associated with ocular melanocytosis.

Frontiers in medicine
2026

Puerarin-loaded injectable hydrogel mitigates skeletal muscle wasting in colorectal cancer cachexia by targeting inflammatory signaling and improving protein homeostasis.

Materials today. Bio
2026

Allgrove syndrome with early neurodegeneration in a child: A case report from Syria.

Medicine
2026

Multiple Mitochondrial Dysfunction Syndrome Caused by IBA57 Gene Mutation: A Case Report and Literature Review.

Molecular genetics &amp; genomic medicine
2026

Identification of Sarcopenic Obesity by Fat-to-Muscle Ratio in Older Adults: A Cohort Study.

Journal of cachexia, sarcopenia and muscle
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

Reduction in mucosal phosphorylated STAT3 under therapy with JAK inhibitor in STAT3 gain of function mutation - a case study.

Virchows Archiv : an international journal of pathology
2026

Automated item-level measures of verbal fluency in semantic and logopenic primary progressive aphasia.

Alzheimer's &amp; dementia : the journal of the Alzheimer's Association
2026

Early-Excitation Segment Atrophy (EESA) Syndrome: Linking Electrical Dyssynchrony to Regional Myocardial Atrophy.

Pacing and clinical electrophysiology : PACE
2026

Diagnostic clues in patients with clinical malabsorption and pathological small intestinal villous atrophy: Immune-mediated type and beyond.

World journal of gastroenterology
2026

Psychological Resilience Measured by the Brief Resilience Scale and Its Association With Rapid Geriatric Assessment Domains and Hospital Stay in Older Adults.

Psychogeriatrics : the official journal of the Japanese Psychogeriatric Society
2026

The role of early immunotherapy in rasmussen's encephalitis.

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology

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Doenças relacionadas

Doenças com sintomas parecidos — ajudam quem ainda está buscando diagnóstico

Referências e fontes

Bases de dados externas citadas neste artigo

Publicações científicas

Artigos indexados no PubMed ligados a esta doença no grafo RarasNet — título, periódico e PMID direto da fonte, sem intermediação de IA.

  1. Znhit3 regulates p53/p21 signaling and governs cerebellar granule cell development.
    Cell death and differentiation· 2026· PMID 41857137mais citado
  2. Local Translation in Glial Cells of the Brain.
    Annual review of cell and developmental biology· 2026· PMID 41838432mais citado
  3. High-Fat Diet Anticipates Age-Related Sarcopenia Through Increased Oxidative Stress and Inflammation.
    British journal of biomedical science· 2026· PMID 41836333mais citado
  4. A Novel Phenotypic Presentation of Absence Seizures in a 15-Month-Old with PIGK-Related GPI Biosynthesis Disorder: A Case Report.
    Case reports in neurology· 2026· PMID 41836309mais citado
  5. Chronological Diagnostic Algorithm Predicting Neuropathology in Parkinsonism.
    Annals of neurology· 2026· PMID 41830446mais citado
  6. Short-term outcomes and tolerability of a hyaluronic acid-based vaginal gel in the management of genitourinary syndrome of menopause: a retrospective observational study.
    Gynecol Endocrinol· 2026· PMID 41837853recente
  7. Vaginal pixel CO2 laser versus topical use of promestriene for genitourinary syndrome of menopause.
    Rev Bras Ginecol Obstet· 2026· PMID 41815932recente
  8. Effectiveness of radiofrequency therapy combined with pelvic floor muscle training in breast cancer survivors with genitourinary syndrome of menopause: a study protocol.
    Eur J Obstet Gynecol Reprod Biol· 2026· PMID 41707475recente
  9. Biallelic TTBK1 variant causes a severe syndromic neurodevelopmental disorder: clinical and genetic insights from two siblings.
    J Med Genet· 2026· PMID 41545183recente
  10. CORTICOBASAL SYNDROME PRESENTING AS A PROGRESSIVE HEMIPARETIC SYNDROME: A CASE REPORT.
    Georgian Med News· 2025· PMID 41511121recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:77299(Orphanet)
  2. OMIM OMIM:611222(OMIM)
  3. MONDO:0012638(MONDO)
  4. GARD:9292(GARD (NIH))
  5. Busca completa no PubMed(PubMed)
  6. Q55345817(Wikidata)

Dados compilados pelo RarasNet a partir de fontes abertas (Orphanet, OMIM, MONDO, PubMed/EuropePMC, ClinicalTrials.gov, DATASUS, PCDT/MS). Este conteúdo é informativo e não substitui avaliação médica.

Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar

Síndrome de microftalmia-atrofia cerebral
Compêndio · Raras BR

Síndrome de microftalmia-atrofia cerebral

ORPHA:77299 · MONDO:0012638
Prevalência
<1 / 1 000 000
Casos
3 casos conhecidos
Herança
Autosomal recessive
CID-10
Q11.2 · Microftalmia
CID-11
Início
Neonatal
Prevalência
0.0 (Worldwide)
MedGen
UMLS
C1970013
Wikidata
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