É uma doença rara causada por uma falha grave no controle automático da respiração feito pelo cérebro e também por um mau funcionamento do sistema nervoso autônomo (aquele que comanda funções que não controlamos, como a própria respiração). Estima-se que afete 1 em cada 200.000 nascidos vivos. Uma alteração (mutação) no gene PHOX-2B é encontrada em 90% dos pacientes. Em 16% dos casos, a doença está associada à doença de Hirschsprung. Apesar da alta taxa de mortalidade e da necessidade de ventilação mecânica por toda a vida, o resultado a longo prazo para pacientes com CCHS pode melhorar muito com um acompanhamento médico coordenado e feito por várias especialidades.
Introdução
O que você precisa saber de cara
É uma doença rara causada por uma falha grave no controle automático da respiração feito pelo cérebro e também por um mau funcionamento do sistema nervoso autônomo (aquele que comanda funções que não controlamos, como a própria respiração). Estima-se que afete 1 em cada 200.000 nascidos vivos. Uma alteração (mutação) no gene PHOX-2B é encontrada em 90% dos pacientes. Em 16% dos casos, a doença está associada à doença de Hirschsprung. Apesar da alta taxa de mortalidade e da necessidade de ventilação mecânica por toda a vida, o resultado a longo prazo para pacientes com CCHS pode melhorar muito com um acompanhamento médico coordenado e feito por várias especialidades.
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 15 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 30 características clínicas mais associadas, ordenadas por frequência.
Linha do tempo da pesquisa
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Genética e causas
O que está alterado no DNA e como passa nas famílias
Genes associados
6 genes identificados com associação a esta condição. Padrão de herança: Autosomal dominant, Not applicable.
Myosins are actin-based motor molecules with ATPase activity. Unconventional myosins serve in intracellular movements. Their highly divergent tails are presumed to bind to membranous compartments, which would be moved relative to actin filaments (By similarity)
Central hypoventilation syndrome, congenital, 2, and autonomic dysfunction
An autosomal recessive form of congenital central hypoventilation syndrome, a rare disorder characterized by abnormal control of respiration in the absence of neuromuscular, lung or cardiac disease, or an identifiable brainstem lesion. CCHS2 is characterized by shallow breathing and apneic spells apparent in the neonatal period. Some patients have other features of autonomic dysfunction, including bladder dysfunction, sinus bradycardia, and temperature dysregulation.
Transcription factor required for the development of GABAergic interneurons in the dorsal horn of the spinal cord and migration and further development of hypaxial muscle precursor cells for limb muscles, diaphragm and hypoglossal cord
Nucleus
Central hypoventilation syndrome, congenital, 3
A form of congenital central hypoventilation syndrome, a rare disorder characterized by abnormal control of respiration in the absence of neuromuscular, lung or cardiac disease, or an identifiable brainstem lesion. CCHS3 is an autosomal recessive, neonatal form characterized by slow and shallow breathing due to a deficiency in autonomic control of respiration. Affected individuals present with respiratory insufficiency and absence of the hypercapnic reflex that stimulates breathing. Additional features include gastrointestinal problems, poor heat tolerance and paroxysmal hypertension.
Involved in the development of several major noradrenergic neuron populations, including the locus coeruleus. Transcription factor which could determine a neurotransmitter phenotype in vertebrates. Enhances second-messenger-mediated activation of the dopamine beta-hydrolase and c-fos promoters, and of several enhancers including cAMP-response element and serum-response element
Nucleus
Central hypoventilation syndrome, congenital, 1
An autosomal dominant form of congenital central hypoventilation syndrome, a rare disorder characterized by abnormal control of respiration in the absence of neuromuscular or lung disease, or an identifiable brain stem lesion. A deficiency in autonomic control of respiration results in inadequate or negligible ventilatory and arousal responses to hypercapnia and hypoxemia.
Important signaling molecule that activates signaling cascades downstream of NTRK2 (PubMed:11152678). During development, promotes the survival and differentiation of selected neuronal populations of the peripheral and central nervous systems. Participates in axonal growth, pathfinding and in the modulation of dendritic growth and morphology. Major regulator of synaptic transmission and plasticity at adult synapses in many regions of the CNS. The versatility of BDNF is emphasized by its contribu
Secreted
Endothelins are endothelium-derived vasoconstrictor peptides
Secreted
Hirschsprung disease 4
A disorder of neural crest development characterized by absence of enteric ganglia along a variable length of the intestine. It is the most common cause of congenital intestinal obstruction. Early symptoms range from complete acute neonatal obstruction, characterized by vomiting, abdominal distention and failure to pass stool, to chronic constipation in the older child.
Neurotrophic factor that enhances survival and morphological differentiation of dopaminergic neurons and increases their high-affinity dopamine uptake (PubMed:8493557). Acts by binding to its coreceptor, GFRA1, leading to autophosphorylation and activation of the RET receptor (PubMed:10829012, PubMed:25242331, PubMed:31535977). Involved in the development of the neural crest (PubMed:15242795)
Secreted
Hirschsprung disease 3
A disorder of neural crest development characterized by absence of enteric ganglia along a variable length of the intestine. It is the most common cause of congenital intestinal obstruction. Early symptoms range from complete acute neonatal obstruction, characterized by vomiting, abdominal distention and failure to pass stool, to chronic constipation in the older child.
Variantes genéticas (ClinVar)
113 variantes patogênicas registradas no ClinVar.
Classificação de variantes (ClinVar)
Distribuição de 1 variantes classificadas pelo ClinVar.
Vias biológicas (Reactome)
20 vias biológicas associadas aos genes desta condição.
Diagnóstico
Os sinais que médicos procuram e os exames que confirmam
Tratamento e manejo
Remédios, cuidados de apoio e o que precisa acompanhar
Onde tratar no SUS
Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)
🇧🇷 Atendimento SUS — Síndrome de hipoventilação central congênita
Centros de Referência SUS
24 centros habilitados pelo SUS para Síndrome de hipoventilação central congênita
Centros para Síndrome de hipoventilação central congênita
Detalhes dos centros
Hospital Universitário Prof. Edgard Santos (HUPES)
R. Dr. Augusto Viana, s/n - Canela, Salvador - BA, 40110-060 · CNES 0003808
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Hospital Infantil Albert Sabin
R. Tertuliano Sales, 544 - Vila União, Fortaleza - CE, 60410-794 · CNES 2407876
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Hospital de Apoio de Brasília (HAB)
AENW 3 Lote A Setor Noroeste - Plano Piloto, Brasília - DF, 70684-831 · CNES 0010456
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Hospital Estadual Infantil e Maternidade Alzir Bernardino Alves (HIABA)
Av. Min. Salgado Filho, 918 - Soteco, Vila Velha - ES, 29106-010 · CNES 6631207
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Hospital das Clínicas da UFG
Rua 235 QD. 68 Lote Área, Nº 285, s/nº - Setor Leste Universitário, Goiânia - GO, 74605-050 · CNES 2338424
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Hospital Universitário da UFJF
R. Catulo Breviglieri, Bairro - s/n - Santa Catarina, Juiz de Fora - MG, 36036-110 · CNES 2297442
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Hospital das Clínicas da UFMG
Av. Prof. Alfredo Balena, 110 - Santa Efigênia, Belo Horizonte - MG, 30130-100 · CNES 2280167
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Hospital Universitário Julio Müller (HUJM)
R. Luis Philippe Pereira Leite, s/n - Alvorada, Cuiabá - MT, 78048-902 · CNES 2726092
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Hospital Universitário João de Barros Barreto
R. dos Mundurucus, 4487 - Guamá, Belém - PA, 66073-000 · CNES 2337878
Serviço de Referência
Hospital Universitário Lauro Wanderley (HULW)
R. Tabeliao Estanislau Eloy, 585 - Castelo Branco, João Pessoa - PB, 58050-585 · CNES 0002470
Atenção Especializada
Instituto de Medicina Integral Prof. Fernando Figueira (IMIP)
R. dos Coelhos, 300 - Boa Vista, Recife - PE, 50070-902 · CNES 0000647
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Hospital Pequeno Príncipe
R. Des. Motta, 1070 - Água Verde, Curitiba - PR, 80250-060 · CNES 3143805
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Hospital Universitário Regional de Maringá (HUM)
Av. Mandacaru, 1590 - Parque das Laranjeiras, Maringá - PR, 87083-240 · CNES 2216108
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Hospital de Clínicas da UFPR
R. Gen. Carneiro, 181 - Alto da Glória, Curitiba - PR, 80060-900 · CNES 2364980
Serviço de Referência
Hospital Universitário Pedro Ernesto (HUPE-UERJ)
Blvd. 28 de Setembro, 77 - Vila Isabel, Rio de Janeiro - RJ, 20551-030 · CNES 2280221
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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
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Hospital São Lucas da PUCRS
Av. Ipiranga, 6690 - Jardim Botânico, Porto Alegre - RS, 90610-000 · CNES 2232928
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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
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Hospital Universitário da UFSC (HU-UFSC)
R. Profa. Maria Flora Pausewang - Trindade, Florianópolis - SC, 88036-800 · CNES 2560356
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Hospital das Clínicas da FMUSP
R. Dr. Ovídio Pires de Campos, 225 - Cerqueira César, São Paulo - SP, 05403-010 · CNES 2077485
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Hospital de Base de São José do Rio Preto
Av. Brg. Faria Lima, 5544 - Vila Sao Jose, São José do Rio Preto - SP, 15090-000 · CNES 2079798
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Hospital de Clínicas da UNICAMP
R. Vital Brasil, 251 - Cidade Universitária, Campinas - SP, 13083-888 · CNES 2748223
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Hospital de Clínicas de Ribeirão Preto (HCRP-USP)
R. Ten. Catão Roxo, 3900 - Vila Monte Alegre, Ribeirão Preto - SP, 14015-010 · CNES 2082187
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UNIFESP / Hospital São Paulo
R. Napoleão de Barros, 715 - Vila Clementino, São Paulo - SP, 04024-002 · CNES 2688689
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Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.
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Publicações mais relevantes
Generation of iPSC lines (UMILi032-A, UMILi033-A, UMILi034-A, UMILi035-A, UMILi036-A) from five Congenital Central Hypoventilation Syndrome patients carrying different poly-alanine expansion mutations in the PHOX2B gene.
Congenital Central Hypoventilation Syndrome (CCHS) is a rare, life-threatening genetic disorder of the autonomic nervous system characterized by alveolar hypoventilation and generalized dysautonomia. CCHS is caused by heterozygous PHOX2B mutations, predominantly polyalanine repeat expansion (95% of cases) and, less frequently, frameshift mutations (5%). To address the lack of disease models, we generated five human induced pluripotent stem cell (hiPSC) lines derived from patients carrying +5Ala, +6Ala and +11Ala expansion mutations. These hiPSC lines exhibited undifferentiated hPSC phenotype, pluripotency, normal karyotype, and retention of the pathogenic genotype, providing a reliable in vitro platform for elucidating CCHS molecular mechanisms and disease pathogenesis.
Hirschsprung Disease on Fetal Autopsy Leading to the Diagnosis of Congenital Central Hypoventilation Syndrome in a Stillborn Fetus.
Hirschsprung disease (HD) can be associated with congenital central hypoventilation syndrome (CCHS). CCHS is mostly due to PHOX2B pathogenic variants. First report of HD on fetal autopsy leading to CCHS diagnosis. Highlights the role of fetal autopsy in stillborn babies, to guide genetic investigation and refine genetic counseling.
Sex Differences in the Effects of Etonogestrel on Respiratory Recovery in an In Vivo Rat Model of Central Chemoreflex Impairment.
Rhythmic breathing movements driven by the brainstem rely on chemosensory inputs to homeostatically adjust motor output to the prevailing metabolic demand. The central CO2 chemoreflex is a critical component of this neural circuitry, as defects in these sensors cause hypoventilation syndromes, which are typically difficult to manage pharmacologically. Progesterone has long been known to stimulate breathing in both sexes, and remarkably the progestinic metabolite, etonogestrel (ETO), enhances CO2 chemosensitivity in animal models and female patients affected by congenital central hypoventilation syndrome. However, ETO's mechanisms and sites of action remain unknown, and the experimental use of synthetic progestins has been met with mixed respiratory outcomes. In our recent work, we demonstrated that chronic ETO treatment improved the CO2 chemoreflex in female rats in which < 80% of chemoreceptor neurons comprising the retrotrapezoid nucleus (RTN) were eliminated. Since the progesterone receptor is widely expressed in both the male and female brain, we investigated whether ETO-induced CO2 chemoreflex recovery can be replicated in male rats in which RTN neurons are partially eliminated by the use of substance P-saporin toxin. Our results confirm dose-dependent impairment of the CO2 chemoreflex in both sexes following chemoreceptor lesion and corroborate the findings that ETO treatment restores ventilation in female rats with moderate-sized lesions. Interestingly, female respiratory recovery was associated with increased expression of the pH-sensing genes Gpr4 and Task2 in the RTN. In contrast, male rats failed to show significant recovery with ETO treatment, suggesting a sex-specific mechanism through which ETO promotes CO2 chemoreflex recovery.
Recognition of a Critical Functional Domain and Improved PHOX2B Missense Variant Interpretation by Utilization of In Silico Prediction Tools.
Pathogenic heterozygous variants in PHOX2B are associated with congenital central hypoventilation syndrome (CCHS), which is characterized by autonomic nervous system dysregulation severely affecting respiratory control. The interpretation of PHOX2B missense variation is challenging due to their rarity and the lack of available functional evidence. Consequently, most PHOX2B missense variants are classified as variants of uncertain significance (VUSs), complicating the timely diagnosis and clinical management of the condition. To generate an improved model for assessments of PHOX2B missense variants, a methodology was derived to evaluate all PHOX2B missense variants in the literature and public/private databases according to a consensus classification framework and assigned pathogenicity classifications. Pathogenicity prediction scores from the in silico prediction tools CADD, REVEL, BayesDel, and AlphaMissense were obtained for all variants. A weighted logistic regression in a multiple imputation framework was performed to assess the strength of evidence supporting application of ACMG/AMP guidelines' PP3/BP4 criteria. CADD, REVEL, and BayesDel meet the predictive strengths for PP3/BP4 recommended by the Clinical Genome Resource (ClinGen). Based on their areas under the curve and low proportions of variants with indeterminate pathogenicity predictions, BayesDel and REVEL were the strongest predictive tools and should be utilized for routine PHOX2B missense variant assessment with this study's calculated score thresholds for PP3/BP4 strength levels. Furthermore, the positional distribution of pathogenic and benign variants was analyzed to assess potential hotspots or critical functional domains in PHOX2B, and pathogenic variants were found to cluster in the homeodomain. The enrichment of pathogenic variation was substantiated by the prediction tools, supporting the use of the PM1 criterion for variants in the homeodomain. This calibration of existing computational prediction tools for PHOX2B missense variant classification and recognition of the homeodomain variants will enable fewer VUS classifications in favor of conclusive results, aiding in these individuals' care.
Heart Rate Variability: Longitudinal Cardioautonomic Physiomarker in Congenital Central Hypoventilation Syndrome.
Congenital Central Hypoventilation Syndrome (CCHS) is caused by PHOX2B gene variants, resulting in highly variable cardiac autonomic dysregulation, including abrupt sinus pauses and risk of sudden unexpected death. The relationship between age, PHOX2B genotype, and cardiac autonomic dysfunction remains unknown, and CCHS-related physiomarkers are lacking. To assess the impact of age and genotype-severity on longitudinal heart rate variability (HRV), a non-invasive measure of cardiovascular autonomic function, in CCHS. Longitudinal HRV measures were calculated from continuous overnight electrocardiography during polysomnography during clinical evaluation with provided artificial ventilation. PHOX2B variants were divided into moderate and severe groupings based on clinical, cellular, and in-silico PHOX2B data. Linear mixed-effects models were used to examine demographic and clinical differences in HRV by age and PHOX2B variant grouping. 226 overnight recordings from 52 unique individuals with CCHS were included. PHOX2B variant severity was associated with decreased vagal tone, baroreflex activity, and total HRV. Increasing age was associated with reduced parasympathetic and baroreflex activity with increased sympathetic dominance. Our findings suggest parasympathetic withdrawal with advancing age in CCHS and, potentially in response, increasing sympathetic contribution to cardiac autonomic control. Reduced baroreflex sensitivity with age, potentially due to cumulative physiological stress, may contribute to this sympathetic dominance, offering insight into the heightened cardiovascular risk observed clinically with age. This novel relationship between PHOX2B variant severity, age and HRV suggests that HRV may be a sensitive, easy-to-obtain physiomarker of CCHS phenotype severity and progression, providing an opportunity to predict and anticipate increasing cardioautonomic dysregulation and risk in CCHS.
Publicações recentes
International Congenital Central Hypoventilation Syndrome (CCHS) Registry: Analysis of Patient-Reported Symptoms by PHOX2B Variant.
PHOX2B Tyr14Ter Mutation Might Be Associated with Sustained Diurnal Hypertension: Case Report and Review of the Literature.
Sex Differences in the Effects of Etonogestrel on Respiratory Recovery in an In Vivo Rat Model of Central Chemoreflex Impairment.
Recognition of a Critical Functional Domain and Improved PHOX2B Missense Variant Interpretation by Utilization of In Silico Prediction Tools.
Heart Rate Variability: Longitudinal Cardioautonomic Physiomarker in Congenital Central Hypoventilation Syndrome.
📚 EuropePMC420 artigos no totalmostrando 197
Sex Differences in the Effects of Etonogestrel on Respiratory Recovery in an In Vivo Rat Model of Central Chemoreflex Impairment.
Acta physiologica (Oxford, England)Recognition of a Critical Functional Domain and Improved PHOX2B Missense Variant Interpretation by Utilization of In Silico Prediction Tools.
Human mutationHeart Rate Variability: Longitudinal Cardioautonomic Physiomarker in Congenital Central Hypoventilation Syndrome.
Annals of the American Thoracic SocietyLong-term non-invasive ventilation in children with central nervous system disorders: A systematic review and meta-analysis.
Paediatric respiratory reviewsTransjugular Leadless Pacemaker Implantation in an Adolescent With Central Hypoventilation Syndrome: A Case Report.
Pacing and clinical electrophysiology : PACERegulation of PHOX2B gene expression by the long non-coding natural antisense RNA PHOX2B-AS1.
The FEBS journalPaired-Like Homeobox 2B (PHOX2B) Mutation and the Hidden Endocrine Puzzle: Hyperinsulinism in Congenital Central Hypoventilation Syndrome.
CureusGeneration of iPSC lines (UMILi032-A, UMILi033-A, UMILi034-A, UMILi035-A, UMILi036-A) from five Congenital Central Hypoventilation Syndrome patients carrying different poly-alanine expansion mutations in the PHOX2B gene.
Stem cell researchVentilatory Complexity Persists in Phox2b Mutant Mice Lacking the Retrotrapezoid Nucleus/Parafacial Respiratory Group (RTN/pFRG) and in Humans With Congenital Central Hypoventilation Syndrome.
The Journal of comparative neurologyHirschsprung Disease on Fetal Autopsy Leading to the Diagnosis of Congenital Central Hypoventilation Syndrome in a Stillborn Fetus.
Clinical geneticsPHOX2B deletion in congenital central hypoventilation syndrome: is this sufficient for pathogenesis?
Journal of human geneticsA Rare Co-Occurrence of Gastric Heterotopia and Autonomic Nervous System Dysfunction: An Attempt to Explain If There Is a Need to Explore Possible Syndromic Link.
Journal of medical casesNovel Pulmonary Manifestations in Pediatric Late-Onset Congenital Central Hypoventilation Syndrome: A Case Series of PHOX2B-Associated Pulmonary Hypertension and Pulmonary Alveolar Hemorrhage.
Pediatric pulmonologyThe PHOX2B c.428A>G missense variant affects post-transcriptional regulation and may explain the absence of neural crest-derived tumors in congenital central hypoventilation syndrome.
Frontiers in physiologyHomozygous DBX1 Nonsense Variant in a Case of Atypical Congenital Central Hypoventilation.
Neurology. GeneticsCesarean delivery with low-dose combined spinal epidural in a patient with congenital central hypoventilation syndrome: a case report.
International journal of obstetric anesthesiaRespiratory events and sleep structure of children suffering from congenital central hypoventilation syndrome under assisted ventilation: a cross-sectional descriptive study.
Sleep & breathing = Schlaf & AtmungEarly Findings on the Effectiveness of Novel Awakening Stimuli for Patients with Congenital Central Hypoventilation Syndrome.
Sensors (Basel, Switzerland)Current Status and Challenges of Diaphragm Pacing in Japan: A Systematic Review of Case Reports.
CureusReliability of Composite Autonomic Symptom Score (COMPASS)-31 in Congenital Central Hypoventilation Syndrome.
Pediatric pulmonologyA familial case of congenital central hypoventilation syndrome due to a combination of polyalanine repeat mutation and novel nonpolyalanine repeat mutation.
Journal of clinical sleep medicine : JCSM : official publication of the American Academy of Sleep MedicineCongenital Central Hypoventilation Syndrome (CCHS): Patient Quality of Life and Caregiver Burden.
Pediatric pulmonologyImages: Atypical resolution of sleep-related hypoventilation in congenital central hypoventilation syndrome.
Journal of clinical sleep medicine : JCSM : official publication of the American Academy of Sleep MedicineParasympathetic Modulation is Correlated With Baroreflex Sensitivity and Orthostatic Pressor Response in Childhood.
American journal of hypertensionPHOX2B -associated Congenital Central Hypoventilation Syndrome Revealed Upon Treatment With Dinutuximab-beta.
Journal of pediatric hematology/oncologyChromosomal localization of PHOX2B during M-phase is disrupted in disease-associated mutants.
Development, growth & differentiation[Ondine syndrome: myth meets reality].
MedicinaEuropean central hypoventilation syndrome consortium description of congenital central hypoventilation syndrome neonatal onset.
European journal of pediatricsAssessment of Phrenic Nerve Pacers in a Patient With Congenital Central Hypoventilation Syndrome.
Pediatric pulmonologyRecognition of Hyperinsulinaemic Hypoglycaemia in Infants with Congenital Central Hypoventilation Syndrome.
Hormone research in paediatricsIdentification of a histone deacetylase inhibitor as a therapeutic candidate for congenital central hypoventilation syndrome.
Molecular therapy. Nucleic acidsA new nonsense pathogenic variant in exon 1 of PHOX2B leads to the diagnosis of congenital central hypoventilation syndrome with intra-familial variability.
Archives de pediatrie : organe officiel de la Societe francaise de pediatrieEarly diagnosis of congenital central hypoventilation syndrome.
Pediatrics international : official journal of the Japan Pediatric SocietyCongenital Central Hypoventilation Syndrome: A Case Report.
CureusEducation program for caregivers in congenital central hypoventilation syndrome: Initiation and experience families.
Pediatric pulmonology[Congenital Central Hypoventilation Syndrome: neonatal diagnosis and management].
Andes pediatrica : revista Chilena de pediatriaCongenital Central Hypoventilation Syndrome and Disorders of Control of Ventilation.
Clinics in chest medicineAutism spectrum disorder in young patients with congenital central hypoventilation syndrome: role of the autonomic nervous system dysfunction.
Orphanet journal of rare diseasesMaxillary Hypoplasia and Non-Invasive Ventilation: Literature Review and Proposed New Treatment Protocol.
Children (Basel, Switzerland)Genetic identification of medullary neurons underlying congenital hypoventilation.
Science advancesStructural characterization of PHOX2B and its DNA interaction shed light on the molecular basis of the +7Ala variant pathogenicity in CCHS.
Chemical scienceNeuroblastoma Predisposition and Surveillance-An Update from the 2023 AACR Childhood Cancer Predisposition Workshop.
Clinical cancer research : an official journal of the American Association for Cancer ResearchDyspnea in young subjects with congenital central hypoventilation syndrome.
Pediatric researchCongenital central hypoventilation syndrome in korea: 20 years of clinical observation and evaluation of the ventilation strategy in a single center.
European journal of pediatricsKnockdown of PHOX2B in the retrotrapezoid nucleus reduces the central CO2 chemoreflex in rats.
eLifeClinical and Genetic Correlation in Neurocristopathies: Bridging a Precision Medicine Gap.
Journal of clinical medicineCongenital Central Hypoventilation Syndrome: The Singularity of A Successful Case.
Acta medica portuguesaTracheostomy and inpatient outcomes among children with congenital central hypoventilation syndrome: A kids' inpatient database study.
Pediatric pulmonologyAirway obstruction in two children with congenital central hypoventilation syndrome and review of the literature.
Archives de pediatrie : organe officiel de la Societe francaise de pediatrieThe Influence of Neurotrophins on the Brain-Lung Axis: Conception, Pregnancy, and Neonatal Period.
Current issues in molecular biologyRecurrence of CCHS-associated PHOX2B Poly-Alanine expansion variant due to paternal mosaicism.
GenePHOX2B: a diagnostic cornerstone in neurocristopathies and neuroblastomas.
Journal of clinical pathologyPulmonary hypertension in an adult patient with congenital central hypoventilation syndrome: a case report.
European heart journal. Case reportsAlternative low-populated conformations prompt phase transitions in polyalanine repeat expansions.
Nature communicationsAn unusual ophthalmologic finding in a patient with congenital central hypoventilation syndrome.
European journal of ophthalmologyDefective exercise-related expiratory muscle recruitment in patients with PHOX2B mutations: A clue to neural determinants of the congenital central hypoventilation syndrome.
PulmonologyElevated transaminases in congenital central hypoventilation syndrome.
ERJ open researchMonitoring of physiologic features and treatment aspects of children on home invasive mechanical ventilation.
Pediatric pulmonologyRevolutionizing congenital central hypoventilation syndrome screening: the potential of machine learning approaches.
Pediatric researchHigher baseline heart rate variability in CCHS patients with progestin-associated recovery of hypercapnic ventilatory response.
Respiratory researchFurther description of two individuals with de novo p.(Glu127Lys) missense variant in the ASCL1 gene.
Clinical geneticsComputer-aided diagnostic screen for Congenital Central Hypoventilation Syndrome with facial phenotype.
Pediatric researchDisease-associated polyalanine expansion mutations impair UBA6-dependent ubiquitination.
The EMBO journal[Study of GCN repeats of PHOX2B gene among individuals from southwest China and diagnosis of two patients with Congenital central hypoventilation syndrome].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics[Research advances on late-onset congenital central hypoventilation syndrome].
Zhonghua er ke za zhi = Chinese journal of pediatricsEffect of Facemask in Congenital Central Hypoventilation Syndrome.
Respiration; international review of thoracic diseasesCharacteristics and outcomes in children with congenital central hypoventilation syndrome on long-term mechanical ventilation in the Netherlands.
European journal of pediatricsLater Onset Congenital Central Hypoventilation Syndrome.
The Medical clinics of North AmericaCarotid Body Dysfunction and Mechanisms of Disease.
Advances in anatomy, embryology, and cell biologyImages: Atypical presentation of congenital central hypoventilation syndrome in an infant with central and obstructive sleep apnea.
Journal of clinical sleep medicine : JCSM : official publication of the American Academy of Sleep MedicineVolume assured pressure support mode use for non-invasive ventilation in pediatrics.
Pediatric pulmonologyCongenital central hypoventilation syndrome in Chinese population: Analysis of three new cases and review of the literature.
Molecular genetics & genomic medicineMultidisciplinary approach to congenital central hypoventilation syndrome during pregnancy: case report.
AJOG global reportsCongenital central hypoventilation syndrome in children: a Hong Kong perspective.
Hong Kong medical journal = Xianggang yi xue za zhi[Two children with late-onset congenital central hypoventilation syndrome].
Lin chuang er bi yan hou tou jing wai ke za zhi = Journal of clinical otorhinolaryngology head and neck surgeryCentral CO2 chemosensitivity and CO2 controller gain independently contribute to daytime Pco2 in young subjects with congenital central hypoventilation syndrome.
Journal of applied physiology (Bethesda, Md. : 1985)Congenital Central Hypoventilation Syndrome in Israel-Novel Findings from a New National Center.
Journal of clinical medicineOrganoid models of breathing disorders reveal patterning defect of hindbrain neurons caused by PHOX2B-PARMs.
Stem cell reportsCan Physiologic Biomarkers Predict Neurocognition in Congenital Central Hypoventilation Syndrome?
ChestThe future of rare autonomic disease research.
Clinical autonomic research : official journal of the Clinical Autonomic Research SocietyApparently rare cases are worth studying because….
Clinical autonomic research : official journal of the Clinical Autonomic Research SocietyNeurogenic hypertension characterizes children with congenital central hypoventilation syndrome and is aggravated by alveolar hypoventilation during sleep.
Journal of hypertensionCongenital Central Hypoventilation Syndrome: Diagnosis and Long-Term Ventilatory Outcomes.
Clinical medicine insights. PediatricsAnalysis and comparisons of gene expression changes in patient- derived neurons from ROHHAD, CCHS, and PWS.
Frontiers in pediatricsClinical Features of COVID-19 in Patients with Congenital Central Hypoventilation Syndrome.
Pediatric allergy, immunology, and pulmonologyObstructive sleep apnea as a presentation of congenital central hypoventilation syndrome.
Journal of clinical sleep medicine : JCSM : official publication of the American Academy of Sleep MedicineRapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation (ROHHAD): a collaborative review of the current understanding.
Clinical autonomic research : official journal of the Clinical Autonomic Research SocietyControl of Breathing and Central Hypoventilation Syndromes.
Sleep medicine clinicsStaying alert with polyhydramnios; an Ondine syndrome case.
Case reports in perinatal medicineLong-term home mechanical ventilation using a noninvasive ventilator via tracheotomy in patients with myasthenia gravis: a case report and literature review.
Therapeutic advances in respiratory diseaseDecannulation in congenital central hypoventilation syndrome.
Pediatric pulmonologyShort-term cognitive loading deteriorates breathing pattern and gas exchange in adult patients with congenital central hypoventilation syndrome.
ERJ open researchSerotonin and the ventilatory effects of etonogestrel, a gonane progestin, in a murine model of congenital central hypoventilation syndrome.
Frontiers in endocrinologyCase Report: A novel PHOX2B p.Ala248_Ala266dup variant causing congenital central hypoventilation syndrome.
Frontiers in pediatricsCongenital central hypoventilation syndrome without hypoventilation: is it congenital central hypoventilation syndrome?
Journal of clinical sleep medicine : JCSM : official publication of the American Academy of Sleep MedicineVentilatory and Orthostatic Challenges Reveal Biomarkers for Neurocognition in Children and Young Adults With Congenital Central Hypoventilation Syndrome.
ChestSleep disturbances in parental caregivers and patients with congenital central hypoventilation syndrome.
Journal of clinical sleep medicine : JCSM : official publication of the American Academy of Sleep MedicineConstruction of Carboxymethyl Chitosan Hydrogel with Multiple Cross-linking Networks for Electronic Devices at Low Temperature.
ACS biomaterials science & engineeringA Deeper Curse: A Hirschsprung Patient's Evaluation Unmasks a Rare Association with Congenital Central Hypoventilation Syndrome and Neuroblastoma.
European journal of pediatric surgery reportsTransitional care and clinical management of adolescents, young adults, and suspected new adult patients with congenital central hypoventilation syndrome.
Clinical autonomic research : official journal of the Clinical Autonomic Research SocietyPhox2b mutation mediated by Atoh1 expression impaired respiratory rhythm and ventilatory responses to hypoxia and hypercapnia.
eLifeGender differences in obesity hypoventilation syndrome.
Minerva medicaNeurocognition as a biomarker in the rare autonomic disorders of CCHS and ROHHAD.
Clinical autonomic research : official journal of the Clinical Autonomic Research SocietyNoninvasive ventilation via bilevel positive airway pressure improved sleep in a child with congenital central hypoventilation syndrome: A case report.
Clinical case reportsA Newborn Infant with Congenital Central Hypoventilation Syndrome and Pupillary Abnormalities: A Literature Review.
AJP reportsDevelopmental disorders affecting the respiratory system: CCHS and ROHHAD.
Handbook of clinical neurologyMolecular Organization and Patterning of the Medulla Oblongata in Health and Disease.
International journal of molecular sciencesSignificance of Serum Oxidative and Antioxidative Status in Congenital Central Hypoventilation Syndrome (CCHS) Patients.
Antioxidants (Basel, Switzerland)Mutations of PHOX2B Gene in Patients of Obesity Hypoventilation Syndrome in Central India.
Journal of laboratory physiciansCentral respiratory chemoreception.
Handbook of clinical neurologyCaffeine Use in the Anesthetic Management of a Patient With Congenital Central Hypoventilation.
CureusA late presentation of TPM3 myopathy presenting as sleep hypoventilation in the setting of acute demyelinating encephalomyelitis.
Journal of clinical sleep medicine : JCSM : official publication of the American Academy of Sleep MedicineHeart rate variability in congenital central hypoventilation syndrome: relationships with hypertension and sinus pauses.
Pediatric researchSleep dysregulation in sympathetic-mediated diseases: implications for disease progression.
SleepThree generations of a family diagnosed with congenital central hypoventilation syndrome: A case series.
Respirology case reportsA novel case of central hypoventilation syndrome or just heavy breathing?
Journal of clinical sleep medicine : JCSM : official publication of the American Academy of Sleep MedicineUrinary Biomarkers as a Proxy for Congenital Central Hypoventilation Syndrome Patient Follow-Up.
Antioxidants (Basel, Switzerland)Neurocognitive monitoring in congenital central hypoventilation syndrome with the NIH Toolbox®.
Pediatric pulmonologyEtonogestrel Administration Reduces the Expression of PHOX2B and Its Target Genes in the Solitary Tract Nucleus.
International journal of molecular sciencesPerioperative outcomes and the effects of anesthesia in congenital central hypoventilation patients.
Sleep & breathing = Schlaf & AtmungMultidrug-Resistant Corynebacterium striatum Developed During Treatment of Ommaya Reservoir Infection.
International medical case reports journalNon-polyalanine repeat mutation in PHOX2B is detected in autopsy cases of sudden unexpected infant death.
PloS oneImpaired ventilation during 6-min walk test in congenital central hypoventilation syndrome.
Pediatric pulmonologyGeneration of two hiPSC lines (UMILi027-A and UMILi028-A) from early and late-onset Congenital Central hypoventilation Syndrome (CCHS) patients carrying a polyalanine expansion mutation in the PHOX2B gene.
Stem cell researchCongenital Central Hypoventilation Syndrome: Optimizing Care with a Multidisciplinary Approach.
Journal of multidisciplinary healthcareApplying diaphragm pacing in previously tracheostomised children with congenital central hypoventilation syndrome is a safe tool.
Acta paediatrica (Oslo, Norway : 1992)Diaphragm pacing in congenital central hypoventilation syndrome: A safe and final tool.
Acta paediatrica (Oslo, Norway : 1992)Rare cause of neonatal apnea from congenital central hypoventilation syndrome.
BMC pediatricsSonographic findings of total colonic aganglionosis in a neonate with Haddad syndrome: A case report.
Journal of clinical ultrasound : JCUStrategy of changing from tracheostomy and non-invasive mechanical ventilation to diaphragm pacing in children with congenital central hypoventilation syndrome.
Acta paediatrica (Oslo, Norway : 1992)Adolescent Congenital Central Hypoventilation Syndrome: An Easily Overlooked Diagnosis.
International journal of environmental research and public healthDiaphragm pacing for congenital central hypoventilation syndrome: A novel case of pacing implanted into the diaphragm.
Pediatrics international : official journal of the Japan Pediatric SocietyBeyond the Retrotrapezoid Nucleus in Congenital Central Hypoventilation Syndrome.
American journal of respiratory and critical care medicineAn unusual cause of diaphragm pacer failure in congenital central hypoventilation syndrome.
Journal of clinical sleep medicine : JCSM : official publication of the American Academy of Sleep MedicineCerebral Autoregulation during Orthostatic Challenge in Congenital Central Hypoventilation Syndrome.
American journal of respiratory and critical care medicineIt Takes a Village: The Importance of Neuropsychological Findings in a Collaborative Approach for a Patient with Congenital Central Hypoventilation Syndrome and Specific Phobia.
Case reports in psychiatryNeuromodulatory Support for Breathing and Cardiovascular Action During Development.
Frontiers in pediatricsCongenital Central Hypoventilation Syndrome: What to Expect During Pregnancy.
CureusOf Mice and Babies: PHOX2B and Obstructive Apneas in Congenital Central Hypoventilation Syndrome.
American journal of respiratory and critical care medicineGenetic study of a patient with congenital central hypoventilation syndrome in Iran: a case report.
Molecular biology reportsCongenital central hypoventilation syndrome: a life-threatening cause of neonatal apnoea.
BMJ case reportsChildren with Congenital Central Hypoventilation Syndrome Do Not Wake up to Ventilator Alarms.
Sleep & breathing = Schlaf & AtmungObstructive Apneas in a Mouse Model of Congenital Central Hypoventilation Syndrome.
American journal of respiratory and critical care medicineAnnual Respiratory Evaluations in Congenital Central Hypoventilation Syndrome and Changes in Ventilatory Management.
Pediatric allergy, immunology, and pulmonologyOndine's Curse in Frontotemporal Dementia with Parkinsonism Linked to Chromosome 17 Caused by MAPT Variants.
Movement disorders clinical practiceAltered Mental Status and Respiratory Failure in an 11-Year-Old Female.
CureusGeneration and characterization of iPSC lines (BCH001) from a boy with intron 14 mutation in the ret proto-oncogene (RET) gene.
Stem cell researchCongenital central hypoventilation syndrome in neonates: report of fourteen new cases and a review of the literature.
Translational pediatricsVariable phenotypes in congenital central hypoventilation syndrome with PHOX2B nonpolyalanine repeat mutations.
Journal of clinical sleep medicine : JCSM : official publication of the American Academy of Sleep MedicinePaired-like homeobox gene (PHOX2B) nonpolyalanine repeat expansion mutations (NPARMs): genotype-phenotype correlation in congenital central hypoventilation syndrome (CCHS).
Genetics in medicine : official journal of the American College of Medical GeneticsNH2-terminal deletion of specific phosphorylation sites on PHOX2B disrupts the formation of enteric neurons in vivo.
American journal of physiology. Gastrointestinal and liver physiologyOndine's curse: myth meets reality.
Sleep medicine: XHow the Management of Children With Congenital Central Hypoventilation Syndrome Has Changed Over Time: Two Decades of Experience From an Italian Center.
Frontiers in pediatricsTracheostomy decannulation to noninvasive positive pressure ventilation in congenital central hypoventilation syndrome.
Sleep & breathing = Schlaf & AtmungA Common 3'UTR Variant of the PHOX2B Gene Is Associated With Infant Life-Threatening and Sudden Death Events in the Italian Population.
Frontiers in neurology[Genotype and phenotype analysis of neonates with neonatal encephalopathy complicated with perinatal hypoxic event].
Zhonghua er ke za zhi = Chinese journal of pediatricsRecurrent apnoea and respiratory failure in an infant: congenital central hypoventilation syndrome with a novel PHOX2B gene variant.
BMJ case reportsCongenital central hypoventilation syndrome and ventilatory responses during cardiopulmonary exercise testing.
Pediatric pulmonologyResearch Advances on Therapeutic Approaches to Congenital Central Hypoventilation Syndrome (CCHS).
Frontiers in neuroscienceAverage volume-assured pressure support vs conventional bilevel pressure support in pediatric nocturnal hypoventilation: a case series.
Journal of clinical sleep medicine : JCSM : official publication of the American Academy of Sleep MedicineAwakening efficacy of a vibrotactile device in patients on home nocturnal ventilatory assistance and healthy subjects as family caregiver proxies.
Chronic respiratory diseasePregnancy in congenital central hypoventilation syndrome.
American journal of obstetrics & gynecology MFMA wireless, skin-interfaced biosensor for cerebral hemodynamic monitoring in pediatric care.
Proceedings of the National Academy of Sciences of the United States of AmericaNeurocognition in Congenital Central Hypoventilation Syndrome: influence of genotype and ventilation method.
Orphanet journal of rare diseasesRecurrent apnea in an infant: Lessons for the clinician.
Medical journal, Armed Forces IndiaManagement of Rare Causes of Pediatric Chronic Respiratory Failure.
Sleep medicine clinicsObesity Hypoventilation: Traditional Versus Nontraditional Populations.
Sleep medicine clinicsHirschsprung disease and other gastrointestinal motility disorders in patients with CCHS.
European journal of pediatricsA respiratory/Hirschsprung phenotype in a three-generation family associated with a novel pathogenic PHOX2B splice donor mutation.
Molecular genetics & genomic medicineSome congenital diseases may just show up later.
Journal of clinical sleep medicine : JCSM : official publication of the American Academy of Sleep MedicineImages: Polysomnographic artifacts in a child with congenital central hypoventilation syndrome.
Journal of clinical sleep medicine : JCSM : official publication of the American Academy of Sleep MedicineGuidelines for diagnosis and management of congenital central hypoventilation syndrome.
Orphanet journal of rare diseasesDevelopment of the Autonomic Nervous System: Clinical Implications.
Seminars in neurologyNoninvasive ventilation in a young infant with congenital central hypoventilation and 7-year follow-up.
Pediatric investigationGeneration and characterization of iPSC lines (BGUi004-A, BGUi005-A) from two identical twins with polyalanine expansion in the paired-like homeobox 2B (PHOX2B) gene.
Stem cell researchAdult cases of late-onset congenital central hypoventilation syndrome and paired-like homeobox 2B-mutation carriers: an additional case report and pooled analysis.
Journal of clinical sleep medicine : JCSM : official publication of the American Academy of Sleep MedicineDiaphragm pacing in a pediatric patient with Acquired Central Hypoventilation syndrome.
Revista chilena de pediatriaNeurodevelopmental outcome and respiratory management of congenital central hypoventilation syndrome: a retrospective study.
BMC pediatricsNeonatal apneic phenotype in a murine congenital central hypoventilation syndrome model is induced through non-cell autonomous developmental mechanisms.
Brain pathology (Zurich, Switzerland)Long Term Non-invasive Ventilation in Children With Central Hypoventilation.
Frontiers in pediatricsEvaluation of respiratory center function in congenital central hypoventilation syndrome by monitoring electrical activity of the diaphragm.
Pediatrics international : official journal of the Japan Pediatric SocietyRespiratory Control by Phox2b-expressing Neurons in a Locus Coeruleus-preBötzinger Complex Circuit.
Neuroscience bulletinNeurocognitive functioning in individuals with congenital central hypoventilation syndrome.
BMC pediatricsAdult-onset congenital central hypoventilation syndrome due to PHOX2B mutation.
Acta neurologica BelgicaScreening Children with a Family History of Central Congenital Hypoventilation Syndrome.
Case reports in pediatricsPrimary tracheocutaneous fistula closure with immediate transition to nocturnal noninvasive positive pressure ventilation in two children with Congenital Central Hypoventilation Syndrome.
International journal of pediatric otorhinolaryngologyA novel mutation which causes a frameshift in the PHOX2B gene causes Haddad syndrome.
Clinical dysmorphologyUse of ultra-rapid whole-exome sequencing to diagnose congenital central hypoventilation syndrome.
Pediatric pulmonologyPositional impairment of gas exchange during diaphragm pacing alleviated by increasing amplitude settings in congenital central hypoventilation syndrome.
Journal of clinical sleep medicine : JCSM : official publication of the American Academy of Sleep MedicineCongenital Central Hypoventilation Syndrome Presenting with Seizures.
CureusLife-threatening cardiac arrhythmias in congenital central hypoventilation syndrome.
European journal of pediatricsAssociated syndromes in patients with Pierre Robin Sequence.
International journal of pediatric otorhinolaryngologyNeurally Adjusted Ventilatory Assist: An Early Clue to Diagnosis of Congenital Central Hypoventilation Syndrome.
Indian journal of critical care medicine : peer-reviewed, official publication of Indian Society of Critical Care MedicineOrexin Neurons Contribute to Central Modulation of Respiratory Drive by Progestins on ex vivo Newborn Rodent Preparations.
Frontiers in physiologyAn unusual pacing artifact.
Turk Kardiyoloji Dernegi arsivi : Turk Kardiyoloji Derneginin yayin organidirIn utero development of fetal breathing movements in C57BL6 mice.
Respiratory physiology & neurobiologyCongenital Central Hypoventilation Syndrome: A Case-Based Learning Opportunity for Neonatal Clinicians.
Neonatal network : NNAssociações
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Referências e fontes
Bases de dados externas citadas neste artigo
Publicações científicas
Artigos indexados no PubMed ligados a esta doença no grafo RarasNet — título, periódico e PMID direto da fonte, sem intermediação de IA.
- Generation of iPSC lines (UMILi032-A, UMILi033-A, UMILi034-A, UMILi035-A, UMILi036-A) from five Congenital Central Hypoventilation Syndrome patients carrying different poly-alanine expansion mutations in the PHOX2B gene.
- Hirschsprung Disease on Fetal Autopsy Leading to the Diagnosis of Congenital Central Hypoventilation Syndrome in a Stillborn Fetus.
- Sex Differences in the Effects of Etonogestrel on Respiratory Recovery in an In Vivo Rat Model of Central Chemoreflex Impairment.
- Recognition of a Critical Functional Domain and Improved PHOX2B Missense Variant Interpretation by Utilization of In Silico Prediction Tools.
- Heart Rate Variability: Longitudinal Cardioautonomic Physiomarker in Congenital Central Hypoventilation Syndrome.
- International Congenital Central Hypoventilation Syndrome (CCHS) Registry: Analysis of Patient-Reported Symptoms by PHOX2B Variant.
- PHOX2B Tyr14Ter Mutation Might Be Associated with Sustained Diurnal Hypertension: Case Report and Review of the Literature.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:661(Orphanet)
- OMIM OMIM:209880(OMIM)
- MONDO:0800026(MONDO)
- GARD:8535(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Artigo Wikipedia(Wikipedia)
- Q979129(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
