{"orpha":293987,"name":"Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["ROHHAD","ROHHADNET","Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation-neural tumors syndrome"],"definition":"A rare syndromic endocrine disease characterized by childhood-onset hyperphagia and obesity, alveolar hypoventilation, dysautonomia, hypothalamic dysfunction and neurobehavioral disorders. Central hypothyroidism, endocrine anomalies, electrolyte imbalances and respiratory failure may also be associated.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-293987/","orphanet_url":"https://www.orpha.net/en/disease/detail/293987","names":{"fr":{"name":"Syndrome d'obésité infantile d'installation rapide-dysfonctionnement hypothalamique-hypoventilation-dysautonomie","synonyms":["ROHHAD","ROHHADNET","Syndrome d'obésité infantile d'installation rapide-dysfonctionnement hypothalamique-hypoventilation-dysautonomie-tumeurs neurales"],"definition":"Une entité syndromique endocrinienne rare caractérisée par une hyperphagie et une obésité d'apparition précoce, une hypoventilation alvéolaire, une dysautonomie, une dysfonction hypothalamique et des troubles du comportement. Une hypothyroïdie centrale, des anomalies endocriniennes, des troubles ioniques et une insuffisance respiratoire peuvent être associés au syndrome."},"de":{"name":"Syndrom der schnell einsetzenden Adipositas im Kindesalter mit hypothalamischer Dysfunktion, Hypoventilation und autonomer Dysregulation","synonyms":["ROHHAD","ROHHADNET-Syndrom"],"definition":"Eine seltene syndromale endokrine Erkrankung, die durch Hyperphagie und Adipositas im Kindesalter, alveoläre Hypoventilation, Dysautonomie, hypothalamische Dysfunktion und neurologische Verhaltensstörungen gekennzeichnet ist. Eine zentrale Hypothyreose, endokrine Anomalien, Elektrolytstörungen und Atemversagen können ebenfalls auftreten."},"es":{"name":"Síndrome de obesidad infantil de rápida progresión-disfunción hipotalámica-hipoventilación-desregulación autonómica","synonyms":["ROHHAD","ROHHADNET"],"definition":"Enfermedad endocrina sindrómica poco frecuente caracterizada por un inicio en la infancia de hiperfagia y obesidad, hipoventilación alveolar, disautonomía, disfunción hipotalámica y trastornos neuroconductuales. También se puede asociar a hipotiroidismo central, anomalías endocrinas, desequilibrios electrolíticos e insuficiencia respiratoria."},"it":{"name":"Sindrome da obesità infantile ad esordio rapido, disfunzione ipotalamica e disregolazione del sistema autonomo","synonyms":["Obesità infantile a esordio rapido - disfunzione ipotalamica - ipoventilazione - disregolazione autonomica - tumori neurali","ROHHAD","ROHHADNET"],"definition":"È un'endocrinopatia sindromica rara caratterizzata da iperfagia ed obesità ad esordio infantile, ipoventilazione alveolare, disautonomia, disfunzione ipotalamica e disturbi neuro-comportamentali. Possono associarsi ipotiroidismo centrale, anomalie endocrine, squilibrio elettrolitico ed insufficienza respiratoria."},"nl":{"name":"Snel aanvangende obesitas in de kindertijd - disfunctie van hypothalamus - hypoventilatie - autonome disregulatie-syndroom","synonyms":["ROHHAD","ROHHADNET","Snel aanvangende obesitas in de kindertijd - disfunctie van hypothalamus - hypoventilatie - autonome disregulatie - neurale tumoren-syndroom"],"definition":"Een zeldzame, syndromale endocriene ziekte gekarakteriseerd door aanvang in de kindertijd van hyperfagie en obesitas, alveolaire hypoventilatie, dysautonomie, disfunctie van de hypothalamus en neurologische gedragsstoornissen. Centrale hypothyreoïdie, endocriene anomalieën, verstoringen van de elektrolytenevenwicht en respiratoire insufficiëntie kunnen ook geassocieerd zijn."},"pt":{"name":"Síndrome de obesidade infantil de apresentação rápida-disfunção hipotalâmica-hipoventilação-desregulação autonómica","synonyms":["ROHHAD","ROHHADNET","Síndrome de obesidade infantil de apresentação rápida-disfunção hipotalâmica-hipoventilação-tumores neurais"]},"pl":{"name":"Zespół szybko postępująca otyłość dziecięca - dysfunkcja podwzgórza - niedotlenienie - dysregulacja autonomiczna","synonyms":["ROHHAD","ROHHADNET","Zespół szybko postępująca otyłość dziecięca - dysfunkcja podwzgórza - niedotlenienie - dysregulacja autonomiczna - guzy neuronalne"],"definition":"*Zespół szybko postępująca otyłość dziecięca - dysfunkcja podwzgórza - niedotlenienie - dysregulacja autonomiczna jest rzadką, potencjalnie zagrażającą życiu, genetycznie uwarunkowaną chorobą endokrynologiczną, która charakteryzuje się nadmiernym łaknieniem i otyłością o początku w okresie dzieciństwa, hipowentylacją pęcherzyków płucnych, dysautonomią (np. upośledzona motoryka przewodu pokarmowego, nieprawidłowy rytm serca, zaburzenia termoregulacji), dysfunkcją podwzgórza i zaburzeniami neurobehawioralnymi. Może również wystąpić niedoczynność tarczycy pochodzenia ośrodkowego, zaburzenia endokrynologiczne (np. niedobór glikokortykoidów, nieprawidłowości okresu dojrzewania), zaburzenia równowagi elektrolitowej (np. hipo-/hipernatremia, hipochloremia), niewydolność oddechowa i nowotwory neuroendokrynne o późnym początku."},"cs":{"name":"Syndrom zahrnující obezitu s rapidním nástupem v dětství, hypotalamickou dysfunkci, hypoventilaci a autonomní dysregulaci","synonyms":["ROHHAD","ROHHADNET","Syndrom zahrnující obezitu s rapidním nástupem v dětství, hypotalamickou dysfunkci, hypoventilaci, autonomnní dysregulaci a neuroektodermové nádory"]},"uk":{"name":"Синдром швидкого дитячого ожиріння-гіпоталамічної дисфункції-гіповентиляції-вегетативної дисрегуляції","synonyms":["Синдром швидкого дитячого ожиріння-гіпоталамічної дисфункції-гіповентиляції-вегетативної дисрегуляції- невральних пухлин","ROHHAD","ROHHADNET"],"definition":"A rare syndromic endocrine disease characterized by childhood-onset hyperphagia and obesity, alveolar hypoventilation, dysautonomia, hypothalamic dysfunction and neurobehavioral disorders. Central hypothyroidism, endocrine anomalies, electrolyte imbalances and respiratory failure may also be associated."},"zh":{"name":"快速发病的儿童肥胖-下丘脑功能障碍-低通气-自主神经失调综合征","synonyms":["快速发病的儿童肥胖-下丘脑功能障碍-低通气-自主神经失调综合征"],"definition":"一种罕见的综合征性内分泌疾病，其特征是儿童期起病的过度进食和肥胖、肺泡通气不足、自主神经功能失调、下丘脑功能障碍和神经行为异常。也可能与中枢性甲状腺功能减退、内分泌异常、电解质失衡和呼吸衰竭相关。"},"tr":{"name":"Hızlı-başlangıçlı çocukluk dönemi obezitesi-hipotalamik disfonksiyon-hipoventilasyon-otonomik disregülasyon sendromu","synonyms":["Hızlı başlangıçlı çocukluk dönemi obezitesi-hipotalamik disfonksiyon-hipoventilasyon-otonomik disregülasyon-nöral tümör sendromu","ROHHAD","ROHHADNET"]}},"xrefs":[{"source":"ICD-10","code":"E66.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5A61.Y","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0017408","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4751121","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10407","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10081396","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97978,"name":"Rare endocrine disease"},"parents":[{"orpha":156610,"name":"Rare genetic respiratory disease","classifications":[156]},{"orpha":101944,"name":"Rare pulmonary disease","classifications":[184]},{"orpha":240371,"name":"Syndromic obesity","classifications":[147,156,193]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Unknown"],"onset":["Childhood","Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":96.0,"area":"Worldwide","status":"Validated","source":"[EXPERT]_30584530[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_[EXPERT]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-04-18","source":"17606542[PMID]_22715259[PMID]_25781356[PMID]_25746964[PMID]_14320765[PMID]_24914877[PMID]_21691246[PMID]_25781356[PMID]_22935553[PMID]_26352082[PMID]_23940246[PMID]","terms":[{"hpo":"HP:0012332","label":"Abnormal autonomic nervous system physiology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002418","label":"Abnormality of midbrain morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000864","label":"Abnormality of the hypothalamus-pituitary axis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000463","label":"Anteverted nares","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000729","label":"Autistic behavior","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011787","label":"Central hypothyroidism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007110","label":"Central hypoventilation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000961","label":"Cyanosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000633","label":"Decreased lacrimation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000824","label":"Decreased response to growth hormone stimulation test","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005280","label":"Depressed nasal bridge","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002910","label":"Elevated circulating hepatic transaminase concentration","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011968","label":"Feeding difficulties","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008213","label":"Gonadotropin deficiency","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003074","label":"Hyperglycemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003077","label":"Hyperlipidemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000966","label":"Hypohidrosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002902","label":"Hyponatremia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002791","label":"Hypoventilation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002342","label":"Intellectual disability, moderate","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000256","label":"Macrocephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001513","label":"Obesity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002591","label":"Polyphagia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012412","label":"Premature adrenarche","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011220","label":"Prominent forehead","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012760","label":"Reduced social responsiveness","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000407","label":"Sensorineural hearing impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012704","label":"Widened subarachnoid space","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007695","label":"Abnormal pupillary light reflex","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005616","label":"Accelerated skeletal maturation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011748","label":"Adrenocorticotropic hormone deficiency","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000718","label":"Aggressive behavior","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002099","label":"Asthma","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000863","label":"Central diabetes insipidus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002376","label":"Developmental regression","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000232","label":"Everted lower lip vermilion","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001945","label":"Fever","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006747","label":"Ganglioneuroblastoma","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003005","label":"Ganglioneuroma","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002579","label":"Gastrointestinal dysmotility","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002045","label":"Hypothermia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007328","label":"Impaired pain sensation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000870","label":"Increased circulating prolactin concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002870","label":"Obstructive sleep apnea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001959","label":"Polydipsia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002783","label":"Recurrent lower respiratory tract infections","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002788","label":"Recurrent upper respiratory tract infections","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001156","label":"Brachydactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006543","label":"Cardiorespiratory arrest","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002608","label":"Celiac disease","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000722","label":"Compulsive behaviors","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000823","label":"Delayed puberty","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000716","label":"Depression","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000712","label":"Emotional lability","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000805","label":"Enuresis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001290","label":"Generalized hypotonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002383","label":"Infectious encephalitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030050","label":"Narcolepsy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000709","label":"Psychosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100716","label":"Self-injurious behavior","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000739","label":"Anxiety","frequency":"Excluded (0%)","criteria":null},{"hpo":"HP:0002153","label":"Hyperkalemia","frequency":"Excluded (0%)","criteria":null}]}}