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MCID: RPD006
MIFTS: 32

Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome

Categories: Endocrine diseases, Fetal diseases, Metabolic diseases, Rare diseases, Respiratory diseases
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Aliases & Classifications for Rapid-Onset Childhood Obesity-Hypothalamic...

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MalaCards integrated aliases for Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome:

Name: Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome 58
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation-Neural Tumors Syndrome 58
Rapid-Onset Obesity with Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation 71
Rohhadnet 58
Rohhad 58

Characteristics:


Prevelance:

<1/1000000 (Worldwide) 58

Age Of Onset:

Childhood,Infancy 58

Classifications:

MalaCards categories:
Global: Fetal diseases Rare diseases Metabolic diseases
Anatomical: Respiratory diseases Endocrine diseases
See all MalaCards categories (disease lists)
Orphanet: 58  
Rare respiratory diseases
Rare endocrine diseases
Developmental anomalies during embryogenesis


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Summaries for Rapid-Onset Childhood Obesity-Hypothalamic...

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Orphanet: 58 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.

MalaCards based summary: Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome, also known as rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation-neural tumors syndrome, is related to rohhad and hyperprolactinemia. The drugs Lenograstim and Cyclophosphamide have been mentioned in the context of this disorder. Affiliated tissues include hypothalamus, pituitary and brain, and related phenotypes are macrocephaly and depressed nasal bridge
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Related Diseases for Rapid-Onset Childhood Obesity-Hypothalamic...

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Diseases related to Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 76)
# Related Disease Score Top Affiliating Genes
1 rohhad 11.7
2 hyperprolactinemia 10.3
3 hypothyroidism 10.2
4 congenital central hypoventilation syndrome 10.2
5 central diabetes insipidus 10.2
6 diabetes insipidus 10.2
7 body mass index quantitative trait locus 11 10.1
8 body mass index quantitative trait locus 9 10.1
9 body mass index quantitative trait locus 8 10.1
10 body mass index quantitative trait locus 4 10.1
11 body mass index quantitative trait locus 10 10.1
12 body mass index quantitative trait locus 7 10.1
13 body mass index quantitative trait locus 12 10.1
14 body mass index quantitative trait locus 14 10.1
15 body mass index quantitative trait locus 18 10.1
16 body mass index quantitative trait locus 19 10.1
17 body mass index quantitative trait locus 20 10.1
18 ganglioneuroma 10.1
19 growth hormone deficiency 10.1
20 apnea, obstructive sleep 10.0
21 diabetes insipidus, neurohypophyseal 10.0
22 leptin deficiency or dysfunction 10.0
23 sleep apnea 10.0
24 ganglioneuroblastoma 10.0
25 neural crest tumor 10.0
26 central hypoventilation syndrome, congenital, 1 10.0
27 leptin receptor deficiency 10.0
28 neuroendocrine tumor 10.0
29 pituitary gland disease 10.0
30 narcolepsy 10.0
31 fatty liver disease 10.0
32 dysautonomia 10.0
33 genetic obesity 10.0
34 conn's syndrome 9.9
35 angelman syndrome 9.8
36 type 2 diabetes mellitus 9.8
37 hypertension, essential 9.8
38 hypertriglyceridemia 1 9.8
39 narcolepsy 1 9.8
40 prader-willi syndrome 9.8
41 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a 9.8
42 raynaud disease 9.8
43 smith-magenis syndrome 9.8
44 strabismus 9.8
45 pituitary hormone deficiency, combined, 2 9.8
46 congenital hemidysplasia with ichthyosiform erythroderma and limb defects 9.8
47 bulimia nervosa 9.8
48 tatton-brown-rahman syndrome 9.8
49 pulmonary hypertension 9.8
50 scoliosis 9.8

Graphical network of the top 20 diseases related to Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome:



Diseases related to Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
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Symptoms & Phenotypes for Rapid-Onset Childhood Obesity-Hypothalamic...

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Human phenotypes related to Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome:

58 30 (show top 50) (show all 71)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 macrocephaly 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0000256
2 depressed nasal bridge 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0005280
3 hypertelorism 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0000316
4 sensorineural hearing impairment 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0000407
5 anteverted nares 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0000463
6 prominent forehead 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0011220
7 hypohidrosis 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0000966
8 obesity 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0001513
9 elevated hepatic transaminase 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0002910
10 hyperlipidemia 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0003077
11 hyponatremia 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0002902
12 intellectual disability, moderate 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0002342
13 feeding difficulties 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0011968
14 cyanosis 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0000961
15 premature adrenarche 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0012412
16 central hypothyroidism 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0011787
17 polyphagia 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0002591
18 impaired social interactions 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0000735
19 central hypoventilation 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0007110
20 hyperglycemia 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0003074
21 decreased lacrimation 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0000633
22 gonadotropin deficiency 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0008213
23 widened subarachnoid space 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0012704
24 abnormal autonomic nervous system physiology 30 Hallmark (90%) HP:0012332
25 decreased response to growth hormone stimulation test 30 Hallmark (90%) HP:0000824
26 abnormal midbrain morphology 30 Hallmark (90%) HP:0002418
27 scoliosis 58 30 Frequent (33%) Frequent (79-30%)
 HP:0002650
28 hypothermia 58 30 Frequent (33%) Frequent (79-30%)
 HP:0002045
29 developmental regression 58 30 Frequent (33%) Frequent (79-30%)
 HP:0002376
30 global developmental delay 58 30 Frequent (33%) Frequent (79-30%)
 HP:0001263
31 short stature 58 30 Frequent (33%) Frequent (79-30%)
 HP:0004322
32 polydipsia 58 30 Frequent (33%) Frequent (79-30%)
 HP:0001959
33 fever 58 30 Frequent (33%) Frequent (79-30%)
 HP:0001945
34 recurrent upper respiratory tract infections 58 30 Frequent (33%) Frequent (79-30%)
 HP:0002788
35 everted lower lip vermilion 58 30 Frequent (33%) Frequent (79-30%)
 HP:0000232
36 asthma 58 30 Frequent (33%) Frequent (79-30%)
 HP:0002099
37 impaired pain sensation 58 30 Frequent (33%) Frequent (79-30%)
 HP:0007328
38 accelerated skeletal maturation 58 30 Frequent (33%) Frequent (79-30%)
 HP:0005616
39 aggressive behavior 58 30 Frequent (33%) Frequent (79-30%)
 HP:0000718
40 obstructive sleep apnea 58 30 Frequent (33%) Frequent (79-30%)
 HP:0002870
41 central diabetes insipidus 58 30 Frequent (33%) Frequent (79-30%)
 HP:0000863
42 adrenocorticotropic hormone deficiency 58 30 Frequent (33%) Frequent (79-30%)
 HP:0011748
43 ganglioneuroma 58 30 Frequent (33%) Frequent (79-30%)
 HP:0003005
44 ganglioneuroblastoma 58 30 Frequent (33%) Frequent (79-30%)
 HP:0006747
45 gastrointestinal dysmotility 58 30 Frequent (33%) Frequent (79-30%)
 HP:0002579
46 increased circulating prolactin concentration 58 30 Frequent (33%) Frequent (79-30%)
 HP:0000870
47 recurrent lower respiratory tract infections 58 30 Frequent (33%) Frequent (79-30%)
 HP:0002783
48 abnormal pupillary light reflex 58 30 Frequent (33%) Frequent (79-30%)
 HP:0007695
49 seizure 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0001250
50 emotional lability 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0000712
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Drugs & Therapeutics for Rapid-Onset Childhood Obesity-Hypothalamic...

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Drugs for Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 7)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Lenograstim Approved, Investigational 135968-09-1
2
Cyclophosphamide Approved, Investigational 50-18-0, 6055-19-2 2907
3 Alkylating Agents
4 Antirheumatic Agents
5 Antineoplastic Agents, Alkylating
6 Immunosuppressive Agents
7 Immunologic Factors

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 International Rapid-onset Obesity With Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation (ROHHAD) REDCap Registry Recruiting NCT03135730
2 Whole Transcriptome Profiling and Metabolic Phenotyping in Children With ROHHAD Syndrome Recruiting NCT02602769
3 High-dose Cyclophosphamide for the Treatment of ROHHAD (Rapid Onset Obesity, Hypoventilation, Hypothalamic Dysfunction, and Autonomic Dysregulation) Syndrome Active, not recruiting NCT02441491 Cyclophosphamide

Search NIH Clinical Center for Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome

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Genetic Tests for Rapid-Onset Childhood Obesity-Hypothalamic...

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Anatomical Context for Rapid-Onset Childhood Obesity-Hypothalamic...

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Organs/tissues related to Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome:

MalaCards : Hypothalamus, Pituitary, Brain, Liver
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Publications for Rapid-Onset Childhood Obesity-Hypothalamic...

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Articles related to Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome:

(show top 50) (show all 69)
# Title Authors PMID Year
1
Acute COVID-19 Infection in a Pediatric Patient with ROHHAD. 62
36267858 2022
2
Neurocognition as a biomarker in the rare autonomic disorders of CCHS and ROHHAD. 62
36289132 2022
3
ZSCAN1 Autoantibodies Are Associated with Pediatric Paraneoplastic ROHHAD. 62
35466441 2022
4
Rituximab therapy in ROHHAD(NET) syndrome. 62
35470643 2022
5
Autoimmunity Related to Adipsic Hypernatremia and ROHHAD Syndrome. 62
35805903 2022
6
Chewing gum: alternative therapy to oxygen intolerance. 62
35321789 2022
7
Weight management in youth with rapid-onset obesity with hypothalamic dysregulation, hypoventilation, autonomic dysregulation, and neural crest tumor (ROHHAD-NET): literature search and case report. 62
34954931 2022
8
Evolution of physiologic and autonomic phenotype in rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation over a decade from age at diagnosis. 62
34694990 2022
9
Thoracic Ganglioneuroma Presenting with Paraneoplastic Cerebellitis and ROHHAD-NET Syndrome. 62
35693680 2022
10
Peri-operative management of a child with ROHHAD-NET syndrome undergoing neural crest tumour excision. 62
35756834 2022
11
Developmental disorders affecting the respiratory system: CCHS and ROHHAD. 62
36031316 2022
12
ROHHAD syndrome without rapid-onset obesity: A diagnosis challenge. 62
36120648 2022
13
Case Report: Considerations of nocturnal ventilator support in ROHHAD syndrome in chronic care of childhood central hypoventilation with hypothalamus dysfunction. 62
36120657 2022
14
Case Report: COVID-19-Associated ROHHAD-Like Syndrome. 62
35433531 2022
15
Images: Sleep-disordered breathing and hypoventilation in a child with obesity and hypothalamic dysfunction. 62
34534067 2022
16
Adrenal ganglioneuroma: Prognostic factors (Review). 62
34630692 2021
17
Rhabdomyolysis due to rosuvastatin in a patient with ROHHAD syndrome. 62
34600840 2021
18
ROHHAD Syndrome an Inconspicuous Cause of Hypernatremia, A Case Report. 62
34279004 2021
19
A Case Report of ROHHAD Syndrome in an 8-year-old Iranian Boy. 62
34567137 2021
20
Neuroimaging and Pathology Findings Associated With Rapid Onset Obesity, Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation (ROHHAD) Syndrome. 62
32925400 2021
21
Sleep-disordered breathing, respiratory patterns during wakefulness and functional capacity in pediatric patients with rapid-onset obesity with hypothalamic dysfunction, hypoventilation and autonomic dysregulation syndrome. 62
33270379 2021
22
Sleep disorders and the hypothalamus. 62
34266606 2021
23
ROHHAD (Rapid-onset Obesity with Hypoventilation, Hypothalamic Dysfunction, Autonomic Dysregulation) Syndrome-What Every Pediatrician Should Know About the Etiopathogenesis, Diagnosis and Treatment: A Review. 62
33542648 2021
24
Obesity Hypoventilation: Traditional Versus Nontraditional Populations. 62
33131656 2020
25
Altered slow-wave sleep activity in children with rapid-onset obesity with hypothalamic dysregulation, hypoventilation, and autonomic dysregulation syndrome. 62
32638701 2020
26
ROHHAD syndrome - A still unrecognized cause of childhood obesity: report of three cases. 62
32990648 2020
27
ROHHAD(NET) Syndrome: Systematic Review of the Clinical Timeline and Recommendations for Diagnosis and Prognosis. 62
32407531 2020
28
A Rare Cause of Sleep-Disordered Breathing: ROHHAD Syndrome. 62
33330273 2020
29
Pulmonary hypertension and chronic hypoventilation in ROHHAD syndrome treated with average-volume assured pressure support. 62
32851331 2019
30
Metastatic neuroblastoma in a patient with ROHHAD: A new alert regarding the risk of aggressive malignancies in this rare condition. 62
31309712 2019
31
Review of paraneoplastic syndromes in children. 62
30877339 2019
32
Natural history of ROHHAD syndrome: development of severe insulin resistance and fatty liver disease over time. 62
31333877 2019
33
Anti-Hypothalamus and Anti-Pituitary Auto-antibodies in ROHHAD Syndrome: Additional Evidence Supporting an Autoimmune Etiopathogenesis. 62
31039576 2019
34
Anesthesia in a pediatric patient with ROHADD syndrome. 62
29728260 2018
35
ROHHAD Syndrome, a Rare Cause of Hypothalamic Obesity: Report of Two Cases 62
29553042 2018
36
ROHHAD and Prader-Willi syndrome (PWS): clinical and genetic comparison. 62
30029683 2018
37
Rapid-Onset Obesity with Hypoventilation, Hypothalamic, Autonomic Dysregulation, and Neuroendocrine Tumors (ROHHADNET) Syndrome: A Systematic Review. 62
30584530 2018
38
Rapid-onset obesity with hypothalamic dysregulation, hypoventilation, and autonomic dysregulation (ROHHAD syndrome): A case report and literature review. 62
27340018 2017
39
Cancer and Autoimmunity: Paraneoplastic Neurological Disorders Associated With Neuroblastic Tumors. 62
29103425 2017
40
Rapid-onset obesity, hypothalamic dysfunction, hypoventilation, and autonomic dysregulation in Saudi Arabia. 62
27761566 2016
41
Hypoventilation improvement in an adult non-invasively ventilated patient with Rapid-onset Obesity with Hypothalamic Dysfunction Hypoventilation and Autonomic Dysregulation (ROHHAD). 62
29543408 2016
42
Improved Behavior and Neuropsychological Function in Children With ROHHAD After High-Dose Cyclophosphamide. 62
27313069 2016
43
ROHHAD syndrome and evolution of sleep disordered breathing. 62
27473663 2016
44
ROHHAD Syndrome: The Girl who Forgets to Breathe. 62
27156551 2016
45
Rare Syndromes and Common Variants of the Brain-Derived Neurotrophic Factor Gene in Human Obesity. 62
27288826 2016
46
Absence of mutations in HCRT, HCRTR1 and HCRTR2 in patients with ROHHAD. 62
26555080 2016
47
ROHHAD in a 9-year-old boy — clinical case. 62
26884306 2016
48
Rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation syndrome and celiac disease in a 13-year-old girl: further evidence for autoimmunity? 62
26352082 2016
49
Rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation (ROHHAD): Response to ventilatory challenges. 62
25776886 2015
50
Rapid-Onset Obesity with Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation (ROHHAD): exome sequencing of trios, monozygotic twins and tumours. 62
26302956 2015
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Variations for Rapid-Onset Childhood Obesity-Hypothalamic...

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Expression for Rapid-Onset Childhood Obesity-Hypothalamic...

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Search GEO for disease gene expression data for Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome.
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Pathways for Rapid-Onset Childhood Obesity-Hypothalamic...

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GO Terms for Rapid-Onset Childhood Obesity-Hypothalamic...

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Sources for Rapid-Onset Childhood Obesity-Hypothalamic...

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2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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