SynthesisBioMed research international2018
Rapid-Onset Obesity with Hypoventilation, Hypothalamic, Autonomic Dysregulation, and Neuroendocrine Tumors (ROHHADNET) Syndrome: A Systematic Review.
Synthesis in BioMed research international, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 38 papers.
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Who cites it
38 citing papers in PubMed, 63 citations in OpenAlex.
- A 2.5-year-old obese girl with persistent hypoventilation post-pneumonia: when is it not just the lungs?Breathe (Sheffield, England) · 2026Article
- Case Report: First description of an intracranial "NET" in ROHHAD syndrome; time to rename to the ROHHAD-NeCT syndrome?Frontiers in endocrinology · 2026Article
- The Central Control of Energy Metabolism: Hypothalamic Obesity Is Not One Disease.Hormone research in paediatrics · 2026Review
- Inflammation-related lncRNAs in the regulation of kidney injuries; special emphasis on novel lncRNA-based delivery platforms.Naunyn-Schmiedeberg's archives of pharmacology · 2026Review
- ROHHAD syndrome: an interdisciplinary perspective.Frontiers in pediatrics · 2026Article
- Management of Acquired Hypothalamic Dysfunction and the Hypothalamic Syndrome; It Is More Than Obesity.Endocrine reviews · 2025Review
- ROHHAD NET in Retrospect: Key Lessons Learned from Five Cases.Indian journal of pediatrics · 2025Article
- Genetic evaluation of five patients with ROHHAD-NET using whole genome sequencing and optical genome mapping.Orphanet journal of rare diseases · 2025Article
- ROHHAD-NET Syndrome: A Case Series.Journal of the ASEAN Federation of Endocrine Societies · 2025Article
- The Enigma That Is ROHHAD Syndrome: Challenges and Future Strategies.Brain sciences · 2024Review
- Special considerations for the child with obesity: An Obesity Medicine Association (OMA) clinical practice statement (CPS) 2024.Obesity pillars · 2024Article
- High-Titer Anti-ZSCAN1 Antibodies in a Toddler Clinically Diagnosed with Apparent Rapid-Onset Obesity with Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation Syndrome.International journal of molecular sciences · 2024Article
- Anti-ZSCAN1 Autoantibodies Are a Feasible Diagnostic Marker for ROHHAD Syndrome Not Associated with a Tumor.International journal of molecular sciences · 2024Article
- A comprehensive review of genetic causes of obesity.World journal of pediatrics : WJP · 2024Review
- Case Report: A case of thoracoscopic mediastinal tumor resection in a child with ROHHAD syndrome.Frontiers in pediatrics · 2024Article
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- Neurocognition as a biomarker in the rare autonomic disorders of CCHS and ROHHAD.Clinical autonomic research : official journal of the Clinical Autonomic Research Society · 2023Review
- Case report: Molecular characterisation of adipose-tissue derived cells from a patient with ROHHAD syndrome.Frontiers in pediatrics · 2023Article
- Whole genome sequencing in ROHHAD trios proved inconclusive: what's beyond?Frontiers in genetics · 2023Article
Corrections and comments
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Authors and funding
13 authors at 4 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
BACKGROUND AND
aimROHHADNET (rapid-onset obesity with hypoventilation, hypothalamic, autonomic dysregulation, neuroendocrine tumor) syndrome is a rare disease with grave outcome. Although early recognition is essential, prompt diagnosis may be challenging due to its extreme rarity. This study aimed to systematically review its clinical manifestation and to identify genetic causes. MATERIALS AND
methodsWe firstly conducted a systematic review on ROHHAD/NET. Electronic databases were searched using related terms. We secondly performed whole exome sequencing (WES) and examined copy number variation (CNV) in two patients to identify genetic causes.
resultsIn total, 46 eligible studies including 158 patients were included. There were 36 case reports available for individual patient data (IPD; 48 patients, 23 ROHHAD, and 25 ROHHADNET) and 10 case series available for aggregate patient data (APD; 110 patients, 71 ROHHAD, and 39 ROHHADNET). The median age at onset calculated from IPD was 4 years. Gender information was available in 100 patients (40 from IPD and 60 from APD) in which 65 females and 35 males were showing female preponderance. Earliest manifestation was rapid obesity, followed by hypothalamic symptoms. Most common types of neuroendocrine tumors were ganglioneuromas. Patients frequently had dysnatremia and hyperprolactinemia. Two patients were available for WES. Rare variants were identified in
conclusionsThis study systematically reviewed the phenotype of ROHHAD/NET aiming to help early recognition and reducing morbidity. The link of variants identified in the present WES requires further investigation.
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