Raras
Buscar doenças, sintomas, genes...
Síndrome de tremor essencial progressivo-perturbação da linguagem-dismorfia facial-perturbação do desenvolvimento intelectual-perturbação comportamental
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Introdução

O que você precisa saber de cara

📋

Síndrome rara com tremor essencial progressivo, distúrbios da fala e comportamentais, dismorfia facial, deficiência intelectual e atraso no desenvolvimento. Herança autossômica recessiva associada ao gene SLC6A17.

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
5
pacientes catalogados
Início
Adolescent
+ adult
🏥
SUS: Cobertura mínimaScore: 25%
Triagem neonatal (Fase 5)Centros em: ES, PR, RS, PA, PE +5CID-10: F78.1
Você se identifica com essa condição?
O Raras está aqui pra te apoiar — com ou sem diagnóstico

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Entender a doença

Do básico ao detalhe, leia no seu ritmo

Preparando trilha educativa...

Sinais e sintomas

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

Partes do corpo afetadas

🧠
Neurológico
10 sintomas
😀
Face
4 sintomas
🫘
Rins
2 sintomas
👁️
Olhos
1 sintomas
📏
Crescimento
1 sintomas

+ 21 sintomas em outras categorias

Características mais comuns

100%prev.
Filtro longo
Frequente (79-30%)
100%prev.
Atraso global do desenvolvimento
Frequente (79-30%)
100%prev.
Fissura palpebral estreita
Frequente (79-30%)
100%prev.
Macrotia
Frequente (79-30%)
100%prev.
Deficiência intelectual, grave
Frequente (79-30%)
100%prev.
Tremor na mão
Frequente (79-30%)
39sintomas
Muito frequente (13)
Frequente (17)
Ocasional (5)
Muito raro (3)
Sem dados (1)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 39 características clínicas mais associadas, ordenadas por frequência.

Filtro longoLong philtrum
Frequente (79-30%)100%
Atraso global do desenvolvimentoGlobal developmental delay
Frequente (79-30%)100%
Fissura palpebral estreitaNarrow palpebral fissure
Frequente (79-30%)100%
Macrotia
Frequente (79-30%)100%
Deficiência intelectual, graveIntellectual disability, severe
Frequente (79-30%)100%

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa1desde 2026
Últimos 10 anos200publicações
Pico202584 papers
Linha do tempo
2026Hoje · 2026📈 2025Ano de pico
Publicações por ano (últimos 10 anos)

Triagem neonatal (Teste do Pezinho)

👶
Teste: qPCR para deleção de SMN1 em sangue seco
Fase 5 do PNTNpending
Incidência no Brasil: 1:10.000

A triagem neonatal permite diagnóstico precoce e início imediato do tratamento.

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 recessive.

SLC6A17Sodium-dependent neutral amino acid transporter SLC6A17Disease-causing germline mutation(s) inAltamente restrito
FUNÇÃO

Synaptic vesicle transporter with apparent selectivity for neutral amino acids. The transport is sodium-coupled but chloride-independent, likely driven by the proton electrochemical gradient generated by vacuolar H(+)-ATPase in an overall electrogenic mechanism. May contribute to the synaptic uptake of neurotransmitter precursors in a process coupled in part to vesicle exocytosis

LOCALIZAÇÃO

Cytoplasmic vesicle, secretory vesicle, synaptic vesicle membranePostsynapsePresynapse

MECANISMO DE DOENÇA

Intellectual developmental disorder, autosomal recessive 48

A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRT48 patients show moderate to severe intellectual disability and additional features including progressive tremor, speech impairment, and sometimes behavioral problems.

EXPRESSÃO TECIDUAL(Tecido-específico)
Brain Frontal Cortex BA9
88.5 TPM
Cerebelo
84.1 TPM
Córtex cerebral
80.5 TPM
Cérebro - Hemisfério cerebelar
73.4 TPM
Pituitária
53.6 TPM
INTERAÇÕES PROTEICAS (3)
OUTRAS DOENÇAS (1)
progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome
HGNC:31399UniProt:Q9H1V8

Variantes genéticas (ClinVar)

20 variantes patogênicas registradas no ClinVar.

🧬 SLC6A17: NM_001010898.4(SLC6A17):c.*1121C>G ()
🧬 SLC6A17: GRCh37/hg19 1p13.3-13.1(chr1:110066946-116672408)x1 ()
🧬 SLC6A17: GRCh37/hg19 1p13.3-13.2(chr1:109483388-112293512)x1 ()
🧬 SLC6A17: NC_000001.10:g.(?_108679275)_(111674176_?)del ()
🧬 SLC6A17: GRCh37/hg19 1p21.3-13.2(chr1:95046805-114714931) ()
Ver todas no ClinVar

Classificação de variantes (ClinVar)

Distribuição de 23 variantes classificadas pelo ClinVar.

1
15
7
Patogênica (4.3%)
VUS (65.2%)
Benigna (30.4%)
VARIANTES MAIS SIGNIFICATIVAS
SLC6A17: NM_001010898.4(SLC6A17):c.286+10A>G [Conflicting classifications of pathogenicity]
SLC6A17: NM_001010898.4(SLC6A17):c.784G>A (p.Val262Met) [Uncertain significance]
SLC6A17: NM_001010898.4(SLC6A17):c.1129T>C (p.Tyr377His) [Uncertain significance]
SLC6A17: NM_001010898.4(SLC6A17):c.895C>T (p.Arg299Trp) [Uncertain significance]
SLC6A17: NM_001010898.4(SLC6A17):c.374G>A (p.Arg125His) [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 de tremor essencial progressivo-perturbação da linguagem-dismorfia facial-perturbação do desenvolvimento intelectual-perturbação comportamental

Centros de Referência SUS

13 centros habilitados pelo SUS para Síndrome de tremor essencial progressivo-perturbação da linguagem-dismorfia facial-perturbação do desenvolvimento intelectual-perturbação comportamental

Centros para Síndrome de tremor essencial progressivo-perturbação da linguagem-dismorfia facial-perturbação do desenvolvimento intelectual-perturbação comportamental

Detalhes dos centros

Hospital Infantil Albert Sabin

R. Tertuliano Sales, 544 - Vila União, Fortaleza - CE, 60410-794 · CNES 2407876

Serviço de Referência

Rota
Anomalias CongênitasDeficiência Intelectual

Hospital de Apoio de Brasília (HAB)

AENW 3 Lote A Setor Noroeste - Plano Piloto, Brasília - DF, 70684-831 · CNES 0010456

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital Estadual Infantil e Maternidade Alzir Bernardino Alves (HIABA)

Av. Min. Salgado Filho, 918 - Soteco, Vila Velha - ES, 29106-010 · CNES 6631207

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital das Clínicas da UFMG

Av. Prof. Alfredo Balena, 110 - Santa Efigênia, Belo Horizonte - MG, 30130-100 · CNES 2280167

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital Universitário João de Barros Barreto

R. dos Mundurucus, 4487 - Guamá, Belém - PA, 66073-000 · CNES 2337878

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Instituto de Medicina Integral Prof. Fernando Figueira (IMIP)

R. dos Coelhos, 300 - Boa Vista, Recife - PE, 50070-902 · CNES 0000647

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital Pequeno Príncipe

R. Des. Motta, 1070 - Água Verde, Curitiba - PR, 80250-060 · CNES 3143805

Serviço de Referência

Rota
Anomalias CongênitasDeficiência Intelectual

Hospital de Clínicas da UFPR

R. Gen. Carneiro, 181 - Alto da Glória, Curitiba - PR, 80060-900 · CNES 2364980

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Instituto Nacional de Saúde da Mulher, da Criança e do Adolescente Fernandes Figueira (IFF/Fiocruz)

Av. Rui Barbosa, 716 - Flamengo, Rio de Janeiro - RJ, 22250-020 · CNES 2269988

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital de Clínicas de Porto Alegre (HCPA)

Rua Ramiro Barcelos, 2350 Bloco A - Av. Protásio Alves, 211 - Bloco B e C - Santa Cecília, Porto Alegre - RS, 90035-903 · CNES 2237601

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital das Clínicas da FMUSP

R. Dr. Ovídio Pires de Campos, 225 - Cerqueira César, São Paulo - SP, 05403-010 · CNES 2077485

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital de Clínicas da UNICAMP

R. Vital Brasil, 251 - Cidade Universitária, Campinas - SP, 13083-888 · CNES 2748223

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital de Clínicas de Ribeirão Preto (HCRP-USP)

R. Ten. Catão Roxo, 3900 - Vila Monte Alegre, Ribeirão Preto - SP, 14015-010 · CNES 2082187

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual
Sobre os centros SUS: Estes centros são habilitados pelo Ministério da Saúde como Serviços de Referência em Doenças Raras ou Serviços de Atenção Especializada. O atendimento é pelo SUS, com encaminhamento da rede de atenção básica.

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

Pesquisa ativa

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Publicações mais relevantes

🥉Melhor nível de evidência: Relato de caso
Timeline de publicações
0 papers (10 anos)
#1

Baseline IPSS-M vs Pretransplant Risk Downstaging as Prognostic Determinants in MDS Undergoing Allogeneic Transplantation.

Blood advances2026 Jan 26

Risk stratification in myelodysplastic syndromes (MDS) is essential for clinical decision-making, yet the optimal approach to estimate risk for patients undergoing allogeneic stem cell transplantation (alloHSCT) remains uncertain. Whether dynamic changes in risk between diagnosis and post-hypomethylating agent (HMA) therapy improve prognostic accuracy beyond baseline evaluation has not been established. We retrospectively studied 176 HMA-treated patients who underwent alloHSCT, applying the Molecular International Prognostic Scoring System (IPSS-M) at both diagnosis and pre-transplant. The primary endpoint was 4-year progression-free survival (PFS). Overall, dynamic assessment did not improve prognostic performance compared with baseline evaluation. For 4-year PFS, C-indices at diagnosis versus at alloHSCT were 0.6406 versus 0.6377 (p=0.82). Patients with worsening risk after HMA experienced notably inferior outcomes, while those with apparent improvement fared no better than patients with unchanged risk (4-year PFS: 50%, 50%, and 31% for improved, unchanged, and worsening risk, respectively). Apparent IPSS-M improvement before alloHSCT yielded no gains in survival and no reduction in relapse relative to unchanged risk, a pattern consistent among TP53 wild-type patients. Moreover, clearance of TP53 mutations following HMA therapy did not translate into improved post-transplant outcomes. In summary, dynamic reassessment with IPSS-M prior to alloHSCT offers no prognostic advantage over baseline evaluation at diagnosis in HMA-treated MDS patients. Accordingly, risk reduction should not be regarded as a therapeutic goal or trial endpoint, whereas risk progression constitutes an adverse marker that may inform incorporation of post-transplant maintenance strategies or intensified conditioning regimens to improve survival.

#2

Intrapartum recognition and management of fetal inflammation.

European journal of pediatrics2026 Jan 15

Intra-amniotic inflammation and infection are common intrapartum conditions at term and represent a major cause of fetal and neonatal morbidity independent of hypoxia. These conditions trigger the fetal inflammatory response syndrome (FIRS), characterized by systemic cytokine activation, cardiovascular dysfunction, impaired thermoregulation, and neuroinflammation, which substantially increase the risk of early-onset neonatal sepsis, encephalopathy, and long-term neurological injury. The coexistence of inflammation and intrapartum hypoxic stress markedly amplifies fetal brain vulnerability. During labor, fetal inflammation is associated with specific cardiotocographic patterns that may precede metabolic acidemia. Early signs include unexplained fetal tachycardia or a progressive rise in baseline heart rate, often without preceding decelerations. With progression, loss of accelerations, abnormalities of baseline variability-including increased, reduced, or atypical sinusoidal patterns-and absence of sleep-wake cycling become evident. Decelerations may develop secondary to inflammation-related placental dysfunction, altered umbilical blood flow, and abnormal uterine contractility.  Prompt recognition of these intrapartum features allows early intervention through maternal temperature control, antibiotic therapy, and timely delivery when indicated. Early identification and management of fetal inflammation are essential to mitigate inflammation-mediated neonatal morbidity and adverse neurological outcomes. • Intra-amniotic inflammation and infection during labor are common at term and are major contributors to fetal and neonatal morbidity. • Traditional intrapartum cardiotocography (CTG) interpretation is primarily focused on detecting hypoxia-related fetal compromise and may fail to recognize non-hypoxic inflammatory insults. • Fetal exposure to intra-amniotic inflammation during labor can be identified antenatally through specific intrapartum cardiotocographic patterns, even in the absence of maternal clinical signs of infection. • The recognition of CTG features suggestive of fetal inflammation provides an opportunity for earlier intrapartum intervention, with potential to reduce neonatal sepsis, encephalopathy, and long-term neurological injury.

#3

The RNA exosome maintains cellular RNA homeostasis by controlling transcript abundance in the brain.

Cell reports2026 Jan 27

Intracellular ribonucleases (RNases) are essential for maintaining accurate RNA levels. Inherited mutations in genes encoding ubiquitous RNases are associated with human diseases, primarily affecting the nervous system. Recessive mutations in genes encoding the evolutionarily conserved RNA exosome, an RNase complex, cause syndromic neurodevelopmental disorders, such as pontocerebellar hypoplasia type 1b (PCH1b), characterized by progressive neurodegeneration. Here, we establish a CRISPR-Cas9-engineered Drosophila model of PCH1b to investigate the cell-type-specific post-transcriptional regulatory functions of the RNA exosome complex in vivo. Pathogenic variants in Rrp40, a subunit of the complex, disrupt RNA exosome activity, leading to widespread transcriptomic dysregulation in brain-enriched cell populations, including defective rRNA processing. These molecular defects coincide with progressive neurodegeneration and behavioral impairments that track with allele severity. Our findings provide a cell-type-resolved view of RNA exosome function in a fully developed animal brain and underscore the critical role of RNA surveillance in safeguarding transcriptome homeostasis and neuronal integrity.

#4

Utility of Locus Coeruleus Signal Intensity on High-resolution T1-weighted MR Imaging with Magnetization Transfer for Differentiating Parkinson's Disease from Atypical Parkinsonism.

Magnetic resonance in medical sciences : MRMS : an official journal of Japan Society of Magnetic Resonance in Medicine2026 Feb 26

This study aimed to evaluate the diagnostic utility of locus coeruleus (LC) signal intensity on high-resolution T1-weighted imaging with magnetization transfer (T1WI with MT) for distinguishing Parkinson's disease (PD) from a broad range of atypical parkinsonism (AP) subtypes, including early-stage cases. We retrospectively analyzed T1WI with MT data from 214 participants, including patients with PD (n = 125), corticobasal syndrome (CBS, n = 12), multiple system atrophy (MSA, n = 16), progressive supranuclear palsy (PSP, n = 19), essential tremor (n = 17), vascular parkinsonism (n = 4), drug-induced parkinsonism (DIP, n = 7), and healthy subjects (HS, n = 14). Circular ROIs were placed on the LC and substantia nigra pars compacta to calculate contrast ratios (CRs). Conventional MRI findings of AP, focusing on characteristic regional atrophy patterns, were also evaluated. Diagnostic performance was assessed using receiver operating characteristic (ROC) analysis. A subanalysis was performed for early-stage cases (within 2 years of onset). Three independent neuroradiologists evaluated T1WI with MT, and interobserver agreement was assessed using intraclass correlation coefficients (ICC). The LC-CR was significantly lower in PD than in HS (P < 0.01) and all AP subtypes except DIP (P = 0.37). ROC analysis revealed that LC-CR had the highest diagnostic accuracy for differentiating PD from AP (area under the curve [AUC] = 0.83, sensitivity = 67%, specificity = 90%). In early-stage cases, LC-CR maintained high specificity (98%) with an AUC of 0.80. The diagnostic utility of LC-CR was comparable or superior to conventional MRI findings in distinguishing PD from CBS, MSA, and PSP. Interobserver agreement for LC-CR measurements was good, with an ICC of 0.87 (95% confidence interval: 0.85-0.89). LC-CR measured on T1WI with MT serves as a reliable imaging biomarker for differentiating PD from various forms of AP, even in early disease stages.

#5

The 9th International RASopathies Symposium.

American journal of medical genetics. Part A2026 Mar 16

The RASopathies are a group of congenital disorders with overlapping clinical manifestations that are caused by pathogenic germline or early somatic variants that result in the hyperactivation of the RAS/mitogen-activated protein kinase (MAPK) signaling pathway. Given the heterogeneous clinical presentations of these disorders that involve abnormalities across multiple organ systems, multidisciplinary clinical management and progress in scientific research are essential for optimal patient diagnosis and care. The 9th International RASopathies Symposium, a biennial meeting, was organized by the patient advocacy group RASopathies Network and showcased recent discoveries, case studies, and advances in preclinical research. Participants, who included scientists, clinicians, industry representatives, patients, and family advocates, explored knowledge gaps, innovative clinical approaches, and lived experiences of individuals with a RASopathy. Sessions centered around organ systems were introduced with a patient perspective to highlight the burden of disease, continued with presentations from established and early-career investigators. Overall, the RASopathies Symposia serve as a catalyst for sustained community collaboration focused on enhancing patient health and accelerating the translation of discoveries into effective treatments.

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Baseline IPSS-M vs Pretransplant Risk Downstaging as Prognostic Determinants in MDS Undergoing Allogeneic Transplantation.

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EClinicalMedicine
2025

Rapid Electroclinical Evolution in HECW2-Related Developmental and Epileptic Encephalopathy: Report of a Likely Splicing Variant With Familial Transmission.

International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience
2025

Reclassification of Seronegative Rheumatoid Arthritis as Anti-PL-12 Antisynthetase Syndrome with Interstitial Lung Disease and Joint Involvement-Case Report.

Reports (MDPI)
2026

Serious Illness Conversation in the Care of Atypical Parkinsonian Disorders: A Practical Guide for Neurology Clinicians.

Movement disorders clinical practice
2025

[Molecular Pathogenesis, Genetic Profiles, and Therapeutic Strategies for NF2-Related Schwannomatosis].

No shinkei geka. Neurological surgery
2026

Bibliometric Mapping of Neovagina Creation Research: Trends, Themes, and Global Collaborations.

International urogynecology journal
2025

Malignant catatonia in an adolescent with pogo transposable element derived with zinc finger domain (POGZ) gene mutation: case report.

BJPsych open
2025

Papillary endolymphatic sac tumor: Case report with clinical study and therapeutic management.

International journal of surgery case reports
2025

Shrinking Lung Syndrome as an Early Manifestation of Systemic Lupus Erythematosus: A Case Report With Literature Review.

Respirology case reports
2025

Case Report: Diagnostic assessment, developmental trajectory and treatment approaches in a case of a complex neurodevelopmental syndrome associated with non- synonymous variants in MECP2 (p. R133C) and GABBR1.

Frontiers in pediatrics
2025

Echoes of change: lung ultrasound revolutionizing neonatal and pediatric respiratory care.

Pediatric radiology
2025

Lesional Markers and Precursors of Melanoma.

Dermatologic clinics
2025

Role of Neuroimaging in Cancer-Treatment Neurotoxicity.

AJR. American journal of roentgenology
2025

Seroprevalence of Immunoglobulin G against measles and rubella over a 12-year period (2009-2021) in Kilifi, Kenya and the impact of the Measles-Rubella (MR) vaccine campaign of 2016.

Vaccine
2025

Reduced locomotor activity in an ovarian-intact rat model of PCOS induced by mild exposure to dihydrotestosterone.

The Journal of endocrinology
2025

Cultural and Molecular Factors Predisposed to Non-Alcoholic Fatty Liver Disease and Type 2 Diabetes Mellitus.

Nutrients
2025

Metabolic dysfunction-associated steatotic liver disease: A story of muscle and mass.

World journal of gastroenterology
2025

Challenging the STEMI paradigm: The case of total coronary occlusion in non-STEMI presentations.

The American journal of emergency medicine
2025

Metabolic Syndrome Evolution and Cardio-Kidney-Metabolic Multimorbidity: Implications for Targeted Prevention.

JACC. Advances
2025

Sports-related Hip Injuries.

Seminars in musculoskeletal radiology
2025

Comprehending toll-like receptors: pivotal element in the pathogenesis of sepsis and its complications.

Frontiers in immunology
2025

Computational prediction of deleterious nonsynonymous SNPs in the CTNS gene: implications for cystinosis.

BMC genomic data
2025

Global, regional, and national impact of Down syndrome on child and adolescent mortality from 1980 to 2021, with projections to 2050: a cross-sectional study.

Frontiers in public health
2025

Knowledge, attitude, and practice of neurologists toward primary progressive aphasia in Indonesia.

Journal of Alzheimer's disease : JAD
2025

Diagnostic Musculoskeletal Ultrasound in the Evaluation of the Median Nerve.

International journal of sports physical therapy
2025

Upregulation of NR2A in Glutamatergic VTA Neurons Contributes to Chronic Visceral Pain in Male Mice.

Neuroscience bulletin
2025

Correlation Between COVID-19 Recovery, Executive Function Decline, and Emotional State.

Psychology research and behavior management
2025

Multidisciplinary collaborative guidance on the assessment and treatment of patients with Long COVID: A compendium statement.

PM &amp; R : the journal of injury, function, and rehabilitation
2025

Characterization of Indolent Chronic Myelomonocytic Leukemia Phenotypes and Dynamic Features of Disease Progression.

Clinical lymphoma, myeloma &amp; leukemia
2025

Bilateral Hearing Loss in Primary Ciliary Dyskinesia: A Study of Conductive and Sensorineural Mechanisms from Pediatric and Adult Cases.

The journal of international advanced otology
2025

Follicle-stimulating hormone promotes EndMT in endothelial cells by upregulating ALKBH5 expression.

Cellular &amp; molecular biology letters
2025

Intranasal NAP (Davunetide): Neuroprotection and circadian rhythmicity.

Advanced drug delivery reviews
2025

Cerebrospinal fluid and blood neurofilament light chain in Parkinson's disease and atypical parkinsonian syndromes: a systematic review and Bayesian network meta-analysis.

Journal of neurology
2025

Genetic factors and management strategies in aortic health: a literature review of inherited aortopathy.

Annals of medicine and surgery (2012)
2025

Modifiable risk factors associated with the risk of developing Parkinson's disease: a critical review.

Arquivos de neuro-psiquiatria
2025

Dysregulation of MicroRNA Biogenesis Machinery in Nervous System Diseases.

The European journal of neuroscience
2025

Unraveling the Roles of UBE3A in Neurodevelopment and Neurodegeneration.

International journal of molecular sciences
2025

Concurrent validity in language and motor domains on the Vineland-3 and Mullen Scales of Early Learning in young children with Down syndrome.

Research in developmental disabilities
2025

Deciphering the molecular mechanism of post-acute sequelae of COVID-19 through comorbidity network analysis.

Chaos (Woodbury, N.Y.)
2025

Advanced Imaging and Occupational History in the Diagnosis of Bird Fancier's Lung: A Case Report.

Cureus
2025

IgG4-RD-Associated Mikulicz Syndrome Without Classic Systemic Involvement-A Case Report.

Journal of clinical medicine
2025

Predicting survival rate by plasma biomarkers and clinical variables in syndromes associated with frontotemporal lobar degeneration.

Alzheimer's &amp; dementia : the journal of the Alzheimer's Association
2025

Pediatric Granulomatosis With Polyangiitis: A Case Report Compared to a Case Review in the Last 10 Years.

Cureus
2025

Revisiting the boundaries of different altered accents profiles.

Cortex; a journal devoted to the study of the nervous system and behavior
2025

Elucidating the Role of the T Cell Receptor Repertoire in Myelodysplastic Neoplasms and Acute Myeloid Leukemia.

Diseases (Basel, Switzerland)
2025

Roadmap to advance therapeutics for SYNGAP1-related disorder: a patient organization perspective from SynGAP Research Fund.

Therapeutic advances in rare disease
2025

An Uncommon Presentation of Guillain-Barré Syndrome With Lhermitte Sign.

Cureus
2025

The importance of peripheral populations in the face of novel environmental change.

Proceedings. Biological sciences
2024

THE FAM53C/DYRK1A axis regulates the G1/S transition of the cell cycle.

bioRxiv : the preprint server for biology
2024

Severe Myocardial Bridging-Induced Total Occlusion of the Left Anterior Descending (LAD) Artery Mimicking Wellens' Syndrome: A Case Report.

Cureus
2024

Pain chronification risk assessment: advanced phenotyping and scoring for prediction and treatments tailored to individualized patient profile.

The EPMA journal
2024

Unveiling the intricacies of irritable bowel syndrome.

World journal of gastroenterology
2024

Application of Forced Oscillation Technique in Assessing Pulmonary Fibrosis in Hermansky-Pudlak Syndrome.

Advances in respiratory medicine
2025

Multiple Keratoacanthomas Associated with Genetic Syndromes: Narrative Review and Proposal of a Diagnostic Algorithm.

American journal of clinical dermatology
2024

Efficacy of Nigella sativa seed oil against psychophysical stress induced irritable bowel syndrome and anxiety-like symptoms in Wistar rats.

Psychopharmacology
2025

Intersection of Sleep Disorders and Parkinson Disease: Unveiling the Bidirectional Relationship.

Movement disorders clinical practice
2024

WDR45 variants as a major cause for a clinically variable intellectual disability syndrome from early infancy in females.

Journal of medical genetics
2024

The Current and Novel Imaging Modalities for Ocular Vasculitis in Behcet's Disease: A Review.

Cureus
2024

The epigenetic modification of DNA methylation in neurological diseases.

Frontiers in immunology
2024

The role of cytokines from salivary gland epithelial cells in the immunopathology of Sjögren's syndrome.

Frontiers in immunology
2024

Dementia: Common Syndromes and Modifiable Risk and Protective Factors.

Neurologic clinics
2025

Epg5 links proteotoxic stress due to defective autophagic clearance and epileptogenesis in Drosophila and Vici syndrome patients.

Autophagy
2024

Involvement of extracellular vesicle microRNA clusters in developing healthy and Rett syndrome brain organoids.

Cellular and molecular life sciences : CMLS
2024

Serotonin syndrome caused by escitalopram in Parkinson's disease psychosis: a case report.

BMC geriatrics
2024

Association between Inflammation and New-Onset Atrial Fibrillation in Acute Coronary Syndromes.

Journal of clinical medicine
2024

Rett Syndrome: The Emerging Landscape of Treatment Strategies.

CNS drugs
2024

Clinical characteristics of Japanese patients with corticobasal degeneration.

Journal of the neurological sciences
2024

Body fluid multiomics in 3PM-guided ischemic stroke management: health risk assessment, targeted protection against health-to-disease transition, and cost-effective personalized approach are envisaged.

The EPMA journal
2024

Predictors of Care Home Admission and Survival Rate in Patients With Syndromes Associated With Frontotemporal Lobar Degeneration in Europe.

Neurology
2024

Progress towards understanding risk factor mechanisms in the development of autism spectrum disorders.

Biochemical Society transactions
2024

Dynamic patterns of COVID stress syndrome among university students during an outbreak: a time-series network analysis.

Psychology &amp; health
2024

Behavioral and histological analyses of the mouse Bassoon p.P3882A mutation corresponding to the human BSN p.P3866A mutation.

Frontiers in neuroscience
2024

Maternal and Newborn Outcomes of SARS-CoV-2/COVID-19 and Pregnancy: Parallels and Contrasts with Human Immunodeficiency Virus/Acquired Immunodeficiency Syndrome.

Medical research archives
2024

Patterns of brain volume and metabolism predict clinical features in the progressive supranuclear palsy spectrum.

Brain communications
2024

Primer on fibroblast growth factor 7 (FGF 7).

Differentiation; research in biological diversity
2024

The Importance of Long-term Partner Observation in Cognitive Evaluation: A Very Early Creutzfeldt-Jakob Disease in a Patient with Mild Cognitive Impairment.

Current Alzheimer research
2024

Challenges in diagnosis of calcaneal fractures: an examination using the WIDI SIM platform.

Emergency radiology
2024

The Assessment of the Nutritional Status among the Young-Old and Old-Old Population with Alimentary-Dependent Diseases.

Medicina (Kaunas, Lithuania)
2024

Progressive supranuclear palsy: Neuropathology, clinical presentation, diagnostic challenges, management, and emerging therapies.

Disease-a-month : DM
2024

Hemodynamics During Development and Postnatal Life.

Advances in experimental medicine and biology
2024

Fetal hemoglobin induction in azacytidine responders enlightens methylation patterns related to blast clearance in higher-risk MDS and CMML.

Clinical epigenetics
2024

Diabetic cheiroarthropathy in uncontrolled type 2 diabetes with positive anti-nuclear antibodies: a case report from Sudan.

Annals of medicine and surgery (2012)
2024

The Elevated Inflammatory Status of Neutrophils Is Related to In-Hospital Complications in Patients with Acute Coronary Syndrome and Has Important Prognosis Value for Diabetic Patients.

International journal of molecular sciences
2024

French guidelines for the diagnosis and management of Tourette syndrome.

Revue neurologique
2024

Human immunodeficiency virus-associated dementia complex with positive 14-3-3 protein in cerebrospinal fluid: A case report.

World journal of clinical cases
2024

[Cortico-basal syndrome and cortico-basal degeneration: From the clinical diagnosis to the lesional substrate for an adapted care].

Geriatrie et psychologie neuropsychiatrie du vieillissement
2024

BPI-GNN: Interpretable brain network-based psychiatric diagnosis and subtyping.

NeuroImage
2024

The bidirectional relationship of depression and disturbances in B cell homeostasis: Double trouble.

Progress in neuro-psychopharmacology &amp; biological psychiatry
2024

Clinical characteristics of patients with connective tissue disease-related interstitial lung disease: a retrospective analysis.

Clinical rheumatology
2024

Role of Cognitive Frailty in Older Adults With Cardiovascular Disease.

Journal of the American Heart Association
2023

Psychopharmacology of smoking cessation medications: focus on patients with mental health disorders.

International review of psychiatry (Abingdon, England)
2024

Longitudinal Genotype-Phenotype (Vineland Questionnaire) Characterization of 15 ADNP Syndrome Cases Highlights Mutated Protein Length and Structural Characteristics Correlation with Communicative Abilities Accentuated in Males.

Journal of molecular neuroscience : MN
2023

Expanding the Clinical Spectrum of UBTF-Related Neurodevelopmental Disorder.

Neurology. Genetics
2024

Clinical evaluation of a patient participation assessment system for upper extremity rehabilitation exercises.

Medical &amp; biological engineering &amp; computing
2024

IgG4-related lymphadenopathy.

Seminars in diagnostic pathology
2023

Targeting Key Inflammatory Mechanisms Underlying Heart Failure: A Comprehensive Review.

International journal of molecular sciences
2024

Characteristics of patients with initial diagnosis of systemic lupus erythematosus in emergency department and their outcomes: a retrospective single-center study.

Clinical rheumatology
2024

Identification of key gene expression associated with quality of life after recovery from COVID-19.

Medical &amp; biological engineering &amp; computing
2024

FXTAS Neuropathology Includes Widespread Reactive Astrogliosis and White Matter Specific Astrocyte Degeneration.

Annals of neurology
2023

Histone methylation mediated by NSD1 is required for the establishment and maintenance of neuronal identities.

Cell reports
2023

Navigating the transition of care in patients with inborn errors of immunity: a single-center's descriptive experience.

Frontiers in immunology
2023

Clinical correlates of "pure" essential tremor: the TITAN study.

Frontiers in neurology
2023

Neurological Insights into Sleep Disorders in Parkinson's Disease.

Brain sciences
2023

Identification of Potential Prognosticators for Sepsis through Expression Analysis of Transcriptomic Data from Sepsis Survivors and Nonsurvivors.

Acta medica Philippina
2023

Dietary Implications of the Bidirectional Relationship between the Gut Microflora and Inflammatory Diseases with Special Emphasis on Irritable Bowel Disease: Current and Future Perspective.

Nutrients
2023

Undetectable=Untransmittable=Universal Access (U=U=U): transforming a foundational, community-led HIV/AIDS health informational advocacy campaign into a global HIV/AIDS health equity strategy and policy priority.

Sexual health
2023

Orchestrated regulation of immune inflammation with cell therapy in pediatric acute liver injury.

Frontiers in immunology
2023

Generation and Characterization of a Zebrafish Model for ADGRV1-Associated Retinal Dysfunction Using CRISPR/Cas9 Genome Editing Technology.

Cells
2023

Metabolic alterations upon SARS-CoV-2 infection and potential therapeutic targets against coronavirus infection.

Signal transduction and targeted therapy
2023

Longitudinal Investigation of Auditory Dynamic Range Deficits in Early Psychosis and its Relationship to Negative Symptoms.

Schizophrenia bulletin
2023

Stable Gastric Pentadecapeptide BPC 157 May Recover Brain-Gut Axis and Gut-Brain Axis Function.

Pharmaceuticals (Basel, Switzerland)
2023

Down syndrome and Alzheimer's disease: A scoping review of functional performance and fall risk.

Alzheimer's &amp; dementia (New York, N. Y.)
2023

Hearing Loss Related to Gene Mutations in Distal Renal Tubular Acidosis.

Audiology &amp; neuro-otology
2023

Membrane excitability of nucleus accumbens neurons gates the incubation of cocaine craving.

Neuropsychopharmacology : official publication of the American College of Neuropsychopharmacology
2023

Temporal pattern of humoral immune response in mild cases of COVID-19.

World journal of biological chemistry
2023

Specific miRNAs are associated with human cancer cachexia in an organ-specific manner.

Journal of cachexia, sarcopenia and muscle
2023

TET2-mediated upregulation of 5-hydroxymethylcytosine in LRRC39 promoter promotes Th1 response in association with downregulated Treg response in Vogt-Koyanagi-Harada disease.

Clinical immunology (Orlando, Fla.)
2023

Patient with McCune albright syndrome: Case report and 10 Years of follow-up imaging examination.

Journal of clinical and experimental dentistry
2022

HIV epidemic in Mizoram, India: A rapid review to inform future responses.

The Indian journal of medical research
2023

Clinico-histopathological review of 255 patients who underwent parotidectomy for pleomorphic adenoma: a 10-year retrospective study-a proposal for an optimal diagnostic and therapeutic algorithm for patients with recurrent pleomorphic adenoma.

European archives of oto-rhino-laryngology : official journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery
2023

The Quest for Neurodegenerative Disease Treatment-Focusing on Alzheimer's Disease Personalised Diets.

Current issues in molecular biology
2023

Analysis of bulk RNA-seq data from sepsis patients reveals sepsis-associated lncRNAs and targeted cell death-related genes contributing to immune microenvironment regulation.

Frontiers in immunology
2023

Fulminant Susac syndrome-a rare cause of coma: The history of the fatal course in a young man.

SAGE open medical case reports
2023

Differential diagnosis of familial adult myoclonic epilepsy.

Epilepsia
2023

Bayesian sequential approach to monitor COVID-19 variants through positivity rate from wastewater.

medRxiv : the preprint server for health sciences
2023

Identification of the molecular mechanism of insulin-like growth factor-1 (IGF-1): a promising therapeutic target for neurodegenerative diseases associated with metabolic syndrome.

Cell &amp; bioscience
2023

Mapping behavioural, cognitive and affective transdiagnostic dimensions in frontotemporal dementia.

Brain communications
2022

Overview of therapeutic options for epilepsy.

Archives de pediatrie : organe officiel de la Societe francaise de pediatrie
2022

Childhood Neurologic Conditions: Movement Disorders.

FP essentials
2023

Microbiome-gut-brain dysfunction in prodromal and symptomatic Lewy body diseases.

Journal of neurology
2022

Advantages and Disadvantages of Using St. John's Wort as a Treatment for Depression.

Cureus
2022

Spotlight on liver macrophages for halting injury and progression in nonalcoholic fatty liver disease.

Expert opinion on therapeutic targets
2022

Neurobehavioral deficits and a progressive ictogenesis in the tetrodotoxin model of epileptic spasms.

Epilepsia
2022

Natural Food for Sarcopenia: A Narrative Review.

The Malaysian journal of medical sciences : MJMS
2022

Promising use of immune cell-derived exosomes in the treatment of SARS-CoV-2 infections.

Clinical and translational medicine
2022

Behavioral and molecular effects of Ubtf knockout and knockdown in mice.

Brain research
2022

Essential and Non-Essential Amino Acids in Dogs at Different Stages of Chronic Kidney Disease.

Veterinary sciences
2022

Bi-allelic loss-of-function variants in PPFIBP1 cause a neurodevelopmental disorder with microcephaly, epilepsy, and periventricular calcifications.

American journal of human genetics

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Doenças relacionadas

Doenças com sintomas parecidos — ajudam quem ainda está buscando diagnóstico

Ordenadas pelo número de sintomas em comum.

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. Baseline IPSS-M vs Pretransplant Risk Downstaging as Prognostic Determinants in MDS Undergoing Allogeneic Transplantation.
    Blood advances· 2026· PMID 41587470mais citado
  2. Intrapartum recognition and management of fetal inflammation.
    European journal of pediatrics· 2026· PMID 41540173mais citado
  3. The RNA exosome maintains cellular RNA homeostasis by controlling transcript abundance in the brain.
    Cell reports· 2026· PMID 41417727mais citado
  4. Utility of Locus Coeruleus Signal Intensity on High-resolution T1-weighted MR Imaging with Magnetization Transfer for Differentiating Parkinson's Disease from Atypical Parkinsonism.
    Magnetic resonance in medical sciences : MRMS : an official journal of Japan Society of Magnetic Resonance in Medicine· 2026· PMID 41184000mais citado
  5. The 9th International RASopathies Symposium.
    American journal of medical genetics. Part A· 2026· PMID 41834696mais citado
  6. Mast cell mediators in hereditary angioedema.
    Orphanet J Rare Dis· 2026· PMID 41832580recente
  7. Prenatal Molecular Diagnosis of COL2A1-Associated Stickler Syndrome: Genotype-Phenotype Correlation in a Resource-Limited Healthcare Setting.
    Int J Mol Sci· 2026· PMID 41828453recente
  8. Platelet gene signatures detecting pulmonary artery stenosis in patients with pulmonary hypertension.
    Orphanet J Rare Dis· 2026· PMID 41827036recente
  9. The global impact of imiglucerase therapy in children with Gaucher disease types 1 and 3: a real-world analysis from the International Collaborative Gaucher Group Gaucher Registry.
    Orphanet J Rare Dis· 2026· PMID 41821052recente
  10. Monogenic lupus with SLC7A7 mutations: a retrospective study from a Chinese center.
    Orphanet J Rare Dis· 2026· PMID 41821046recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:457212(Orphanet)
  2. OMIM OMIM:616269(OMIM)
  3. MONDO:0014559(MONDO)
  4. GARD:17798(GARD (NIH))
  5. Variantes catalogadas(ClinVar)
  6. Busca completa no PubMed(PubMed)
  7. Q55784884(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

Compêndio · Raras BR

Síndrome de tremor essencial progressivo-perturbação da linguagem-dismorfia facial-perturbação do desenvolvimento intelectual-perturbação comportamental

ORPHA:457212 · MONDO:0014559
🇧🇷 Brasil SUS
Triagem
qPCR para deleção de SMN1 em sangue seco
PNTN
Fase 5
Incidência BR
1:10.000
Geral
Prevalência
<1 / 1 000 000
Casos
5 casos conhecidos
Herança
Autosomal recessive
CID-10
F78.1 · Outro retardo mental - comprometimento significativo do comportamento, requerendo vigilância ou tratamento
Início
Adolescent, Adult
Prevalência
0.0 (Worldwide)
MedGen
UMLS
C4225395
Wikidata
Evidência
🥉 Relato de caso
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