MCID: RPD006
MIFTS: 27

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

Categories: Endocrine diseases, Metabolic diseases, Rare diseases, Respiratory diseases

Aliases & Classifications for Rapid-Onset Childhood Obesity-Hypothalamic...

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 60
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation-Neural Tumors Syndrome 60
Rapid-Onset Obesity with Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation 74
Rohhadnet 60
Rohhad 60

Characteristics:

Orphanet epidemiological data:

60
rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome
Inheritance: Multigenic/multifactorial; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

Classifications:



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

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 prader-willi syndrome. Affiliated tissues include hypothalamus and pituitary, and related phenotypes are macrocephaly and hypertelorism

Related Diseases for Rapid-Onset Childhood Obesity-Hypothalamic...

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

(show all 12)
# Related Disease Score Top Affiliating Genes
1 rohhad 12.7
2 prader-willi syndrome 10.1
3 anxiety 10.1
4 hypothalamic obesity 10.1
5 body mass index quantitative trait locus 11 10.0
6 body mass index quantitative trait locus 8 10.0
7 body mass index quantitative trait locus 10 10.0
8 body mass index quantitative trait locus 7 10.0
9 body mass index quantitative trait locus 14 10.0
10 body mass index quantitative trait locus 18 10.0
11 body mass index quantitative trait locus 19 10.0
12 neural crest tumor 10.0

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

Symptoms & Phenotypes for Rapid-Onset Childhood Obesity-Hypothalamic...

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

60 33 (show top 50) (show all 68)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 macrocephaly 60 33 hallmark (90%) Very frequent (99-80%) HP:0000256
2 hypertelorism 60 33 hallmark (90%) Very frequent (99-80%) HP:0000316
3 obesity 60 33 hallmark (90%) Very frequent (99-80%) HP:0001513
4 depressed nasal bridge 60 33 hallmark (90%) Very frequent (99-80%) HP:0005280
5 sensorineural hearing impairment 60 33 hallmark (90%) Very frequent (99-80%) HP:0000407
6 anteverted nares 60 33 hallmark (90%) Very frequent (99-80%) HP:0000463
7 prominent forehead 60 33 hallmark (90%) Very frequent (99-80%) HP:0011220
8 feeding difficulties 60 33 hallmark (90%) Very frequent (99-80%) HP:0011968
9 hypohidrosis 60 33 hallmark (90%) Very frequent (99-80%) HP:0000966
10 elevated hepatic transaminase 60 33 hallmark (90%) Very frequent (99-80%) HP:0002910
11 decreased lacrimation 60 33 hallmark (90%) Very frequent (99-80%) HP:0000633
12 intellectual disability, moderate 60 33 hallmark (90%) Very frequent (99-80%) HP:0002342
13 impaired social interactions 60 33 hallmark (90%) Very frequent (99-80%) HP:0000735
14 hyperlipidemia 60 33 hallmark (90%) Very frequent (99-80%) HP:0003077
15 hyponatremia 60 33 hallmark (90%) Very frequent (99-80%) HP:0002902
16 polyphagia 60 33 hallmark (90%) Very frequent (99-80%) HP:0002591
17 cyanosis 60 33 hallmark (90%) Very frequent (99-80%) HP:0000961
18 premature adrenarche 60 33 hallmark (90%) Very frequent (99-80%) HP:0012412
19 central hypoventilation 60 33 hallmark (90%) Very frequent (99-80%) HP:0007110
20 growth hormone deficiency 60 33 hallmark (90%) Very frequent (99-80%) HP:0000824
21 hyperglycemia 60 33 hallmark (90%) Very frequent (99-80%) HP:0003074
22 central hypothyroidism 60 33 hallmark (90%) Very frequent (99-80%) HP:0011787
23 gonadotropin deficiency 60 33 hallmark (90%) Very frequent (99-80%) HP:0008213
24 abnormality of midbrain morphology 60 33 hallmark (90%) Very frequent (99-80%) HP:0002418
25 widened subarachnoid space 60 33 hallmark (90%) Very frequent (99-80%) HP:0012704
26 abnormal autonomic nervous system physiology 33 hallmark (90%) HP:0012332
27 hypothermia 60 33 frequent (33%) Frequent (79-30%) HP:0002045
28 developmental regression 60 33 frequent (33%) Frequent (79-30%) HP:0002376
29 scoliosis 60 33 frequent (33%) Frequent (79-30%) HP:0002650
30 global developmental delay 60 33 frequent (33%) Frequent (79-30%) HP:0001263
31 short stature 60 33 frequent (33%) Frequent (79-30%) HP:0004322
32 fever 60 33 frequent (33%) Frequent (79-30%) HP:0001945
33 polydipsia 60 33 frequent (33%) Frequent (79-30%) HP:0001959
34 recurrent upper respiratory tract infections 60 33 frequent (33%) Frequent (79-30%) HP:0002788
35 everted lower lip vermilion 60 33 frequent (33%) Frequent (79-30%) HP:0000232
36 aggressive behavior 60 33 frequent (33%) Frequent (79-30%) HP:0000718
37 impaired pain sensation 60 33 frequent (33%) Frequent (79-30%) HP:0007328
38 asthma 60 33 frequent (33%) Frequent (79-30%) HP:0002099
39 obstructive sleep apnea 60 33 frequent (33%) Frequent (79-30%) HP:0002870
40 accelerated skeletal maturation 60 33 frequent (33%) Frequent (79-30%) HP:0005616
41 ganglioneuroma 60 33 frequent (33%) Frequent (79-30%) HP:0003005
42 adrenocorticotropic hormone deficiency 60 33 frequent (33%) Frequent (79-30%) HP:0011748
43 prolactin excess 60 33 frequent (33%) Frequent (79-30%) HP:0000870
44 central diabetes insipidus 60 33 frequent (33%) Frequent (79-30%) HP:0000863
45 ganglioneuroblastoma 60 33 frequent (33%) Frequent (79-30%) HP:0006747
46 gastrointestinal dysmotility 60 33 frequent (33%) Frequent (79-30%) HP:0002579
47 recurrent lower respiratory tract infections 60 33 frequent (33%) Frequent (79-30%) HP:0002783
48 abnormal pupillary light reflex 60 33 frequent (33%) Frequent (79-30%) HP:0007695
49 emotional lability 60 33 occasional (7.5%) Occasional (29-5%) HP:0000712
50 depressivity 60 33 occasional (7.5%) Occasional (29-5%) HP:0000716

Drugs & Therapeutics for Rapid-Onset Childhood Obesity-Hypothalamic...

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

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

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

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

42
Hypothalamus, Pituitary

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

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

(show all 13)
# Title Authors Year
1
Perioperative anesthetic management of children with congenital central hypoventilation syndrome and rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation undergoing thoracoscopic phrenic nerve-diaphragm pacemaker implantation. ( 30251310 )
2018
2
Rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation associated with neuroblastoma. ( 29380520 )
2018
3
Hypoventilation improvement in an adult non-invasively ventilated patient with Rapid-onset Obesity with Hypothalamic Dysfunction Hypoventilation and Autonomic Dysregulation (ROHHAD). ( 29543408 )
2016
4
Rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation syndrome and celiac disease in a 13-year-old girl: further evidence for autoimmunity? ( 26352082 )
2016
5
Psychiatric Symptoms in Rapid-onset Obesity with Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation Syndrome and its Treatment: A Case Report. ( 26830999 )
2016
6
Rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation (ROHHAD) syndrome may have a hypothalamus-periaqueductal gray localization. ( 25746964 )
2015
7
Rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation (ROHHAD): Response to ventilatory challenges. ( 25776886 )
2015
8
Rapid-Onset Obesity with Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation (ROHHAD): exome sequencing of trios, monozygotic twins and tumours. ( 26302956 )
2015
9
Intrathecal synthesis of oligoclonal bands in rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation syndrome: new evidence supporting immunological pathogenesis. ( 23292759 )
2014
10
Rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation: review and update. ( 24914877 )
2014
11
Commentary: Rapid-onset Obesity with Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation (ROHHAD): Remember Your ABCs (Airway, Breathing, Circulation). ( 23970914 )
2013
12
Rapid-onset obesity with hypothalamic dysfunction, hypoventilation and autonomic dysregulation (ROHHAD): a case with additional features and review of the literature. ( 22715259 )
2011
13
Rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation presenting in childhood. ( 17606542 )
2007

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

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

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

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

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

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

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70 SNOMED-CT via HPO
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75 UMLS via Orphanet
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