ORPHA:293987
Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome
Synonyms: ROHHAD · ROHHADNET · Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation-neural tumors syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Unknown
- Age of onset
- Childhood, Infancy
- Status
- active
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.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome | ROHHAD · ROHHADNET · Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation-neural tumors syndrome |
| fr | Syndrome d'obésité infantile d'installation rapide-dysfonctionnement hypothalamique-hypoventilation-dysautonomie | ROHHAD · ROHHADNET · Syndrome d'obésité infantile d'installation rapide-dysfonctionnement hypothalamique-hypoventilation-dysautonomie-tumeurs neurales |
| de | Syndrom der schnell einsetzenden Adipositas im Kindesalter mit hypothalamischer Dysfunktion, Hypoventilation und autonomer Dysregulation | ROHHAD · ROHHADNET-Syndrom |
| es | Síndrome de obesidad infantil de rápida progresión-disfunción hipotalámica-hipoventilación-desregulación autonómica | ROHHAD · ROHHADNET |
| it | Sindrome da obesità infantile ad esordio rapido, disfunzione ipotalamica e disregolazione del sistema autonomo | Obesità infantile a esordio rapido - disfunzione ipotalamica - ipoventilazione - disregolazione autonomica - tumori neurali · ROHHAD · ROHHADNET |
| nl | Snel aanvangende obesitas in de kindertijd - disfunctie van hypothalamus - hypoventilatie - autonome disregulatie-syndroom | ROHHAD · ROHHADNET · Snel aanvangende obesitas in de kindertijd - disfunctie van hypothalamus - hypoventilatie - autonome disregulatie - neurale tumoren-syndroom |
| pt | Síndrome de obesidade infantil de apresentação rápida-disfunção hipotalâmica-hipoventilação-desregulação autonómica | ROHHAD · ROHHADNET · Síndrome de obesidade infantil de apresentação rápida-disfunção hipotalâmica-hipoventilação-tumores neurais |
| pl | Zespół szybko postępująca otyłość dziecięca - dysfunkcja podwzgórza - niedotlenienie - dysregulacja autonomiczna | ROHHAD · ROHHADNET · Zespół szybko postępująca otyłość dziecięca - dysfunkcja podwzgórza - niedotlenienie - dysregulacja autonomiczna - guzy neuronalne |
| cs | Syndrom zahrnující obezitu s rapidním nástupem v dětství, hypotalamickou dysfunkci, hypoventilaci a autonomní dysregulaci | ROHHAD · ROHHADNET · Syndrom zahrnující obezitu s rapidním nástupem v dětství, hypotalamickou dysfunkci, hypoventilaci, autonomnní dysregulaci a neuroektodermové nádory |
| uk | Синдром швидкого дитячого ожиріння-гіпоталамічної дисфункції-гіповентиляції-вегетативної дисрегуляції | Синдром швидкого дитячого ожиріння-гіпоталамічної дисфункції-гіповентиляції-вегетативної дисрегуляції- невральних пухлин · ROHHAD · ROHHADNET |
| zh | 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 | 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 |
| tr | Hızlı-başlangıçlı çocukluk dönemi obezitesi-hipotalamik disfonksiyon-hipoventilasyon-otonomik disregülasyon sendromu | Hızlı başlangıçlı çocukluk dönemi obezitesi-hipotalamik disfonksiyon-hipoventilasyon-otonomik disregülasyon-nöral tümör sendromu · ROHHAD · ROHHADNET |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | E66.8 | NTBT | attributed | validated |
| ICD-11 | 5A61.Y | NTBT | attributed | validated |
| MONDO | 0017408 | E | validated | |
| UMLS | C4751121 | E | validated | |
| GARD | 10407 | E | validated | |
| MedDRA | 10081396 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (3):
- ORPHA:156610Rare genetic respiratory disease
rare genetic diseases - ORPHA:101944Rare pulmonary disease
rare respiratory diseases - ORPHA:240371Syndromic obesity
rare developmental anomalies during embryogenesis; rare genetic diseases; rare endocrine diseases
No children.
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Genes
0 directOrphanet records no gene directly on this code.
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 96 cases | Worldwide | Case(s) | Validated | [EXPERT]_30584530[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_[EXPERT] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
67 annotations · validated 2016-04-18| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0012332 | Abnormal autonomic nervous system physiology | |
| HP:0002418 | Abnormality of midbrain morphology | |
| HP:0000864 | Abnormality of the hypothalamus-pituitary axis | |
| HP:0000463 | Anteverted nares | |
| HP:0000729 | Autistic behavior | |
| HP:0011787 | Central hypothyroidism | |
| HP:0007110 | Central hypoventilation | |
| HP:0000961 | Cyanosis | |
| HP:0000633 | Decreased lacrimation | |
| HP:0000824 | Decreased response to growth hormone stimulation test | |
| HP:0005280 | Depressed nasal bridge | |
| HP:0002910 | Elevated circulating hepatic transaminase concentration | |
| HP:0011968 | Feeding difficulties | |
| HP:0008213 | Gonadotropin deficiency | |
| HP:0003074 | Hyperglycemia | |
| HP:0003077 | Hyperlipidemia | |
| HP:0000316 | Hypertelorism | |
| HP:0000966 | Hypohidrosis | |
| HP:0002902 | Hyponatremia | |
| HP:0002791 | Hypoventilation | |
| HP:0002342 | Intellectual disability, moderate | |
| HP:0000256 | Macrocephaly | |
| HP:0001513 | Obesity | |
| HP:0002591 | Polyphagia | |
| HP:0012412 | Premature adrenarche | |
| HP:0011220 | Prominent forehead | |
| HP:0012760 | Reduced social responsiveness | |
| HP:0000407 | Sensorineural hearing impairment | |
| HP:0012704 | Widened subarachnoid space | |
| Frequent (79-30%) | ||
| HP:0007695 | Abnormal pupillary light reflex | |
| HP:0005616 | Accelerated skeletal maturation | |
| HP:0011748 | Adrenocorticotropic hormone deficiency | |
| HP:0000718 | Aggressive behavior | |
| HP:0002099 | Asthma | |
| HP:0000863 | Central diabetes insipidus | |
| HP:0002376 | Developmental regression | |
| HP:0000232 | Everted lower lip vermilion | |
| HP:0001945 | Fever | |
| HP:0006747 | Ganglioneuroblastoma | |
| HP:0003005 | Ganglioneuroma | |
| HP:0002579 | Gastrointestinal dysmotility | |
| HP:0001263 | Global developmental delay | |
| HP:0002045 | Hypothermia | |
| HP:0007328 | Impaired pain sensation | |
| HP:0000870 | Increased circulating prolactin concentration | |
| HP:0002870 | Obstructive sleep apnea | |
| HP:0001959 | Polydipsia | |
| HP:0002783 | Recurrent lower respiratory tract infections | |
| HP:0002788 | Recurrent upper respiratory tract infections | |
| HP:0002650 | Scoliosis | |
| HP:0004322 | Short stature | |
| Occasional (29-5%) | ||
| HP:0001156 | Brachydactyly | |
| HP:0006543 | Cardiorespiratory arrest | |
| HP:0002608 | Celiac disease | |
| HP:0000722 | Compulsive behaviors | |
| HP:0000823 | Delayed puberty | |
| HP:0000716 | Depression | |
| HP:0000712 | Emotional lability | |
| HP:0000805 | Enuresis | |
| HP:0001290 | Generalized hypotonia | |
| HP:0002383 | Infectious encephalitis | |
| HP:0030050 | Narcolepsy | |
| HP:0000709 | Psychosis | |
| HP:0001250 | Seizure | |
| HP:0100716 | Self-injurious behavior | |
| Excluded (0%) | ||
| HP:0000739 | Anxiety | |
| HP:0002153 | Hyperkalemia | |
Run the differential on the 12 obligate / very frequent terms
Annotation source: 17606542[PMID]_22715259[PMID]_25781356[PMID]_25746964[PMID]_14320765[PMID]_24914877[PMID]_21691246[PMID]_25781356[PMID]_22935553[PMID]_26352082[PMID]_23940246[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/293987
- This record as JSON: /data/d/293987.json