Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: RPD006 MIFTS: 27	Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome Categories: Endocrine diseases, Metabolic diseases, Rare diseases, Respiratory diseases
Tissues Related diseases Publications Symptoms & Phenotypes Expand all tables

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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:

MalaCards categories:
Global: Rare diseases Metabolic diseases
Anatomical: Respiratory diseases Endocrine diseases

See all MalaCards categories (disease lists)

Orphanet: ⁶⁰

Rare respiratory diseases

Rare endocrine diseases

External Ids:

Orphanet ⁶⁰ ORPHA293987

SNOMED-CT via HPO ⁷⁰ 103021001 111266001 116371000119107 more

UMLS ⁷⁴ C4053506

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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

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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
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

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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

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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

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

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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

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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 )	Ballard HA...Jagannathan N	2018
2	Rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation associated with neuroblastoma. ( 29380520 )	Lim SH...Kang MH	2018
3	Hypoventilation improvement in an adult non-invasively ventilated patient with Rapid-onset Obesity with Hypothalamic Dysfunction Hypoventilation and Autonomic Dysregulation (ROHHAD). ( 29543408 )	Graziani A...Giuseppe Stefanini F	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 )	Cemeroglu AP...Kleis L	2016
5	Psychiatric Symptoms in Rapid-onset Obesity with Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation Syndrome and its Treatment: A Case Report. ( 26830999 )	Erensoy H...Evrensel A	2016
6	Rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation (ROHHAD) syndrome may have a hypothalamus-periaqueductal gray localization. ( 25746964 )	Chow C...Thomas T	2015
7	Rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation (ROHHAD): Response to ventilatory challenges. ( 25776886 )	Carroll MS...Weese-Mayer DE	2015
8	Rapid-Onset Obesity with Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation (ROHHAD): exome sequencing of trios, monozygotic twins and tumours. ( 26302956 )	Barclay SF...Bech-Hansen NT	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 )	Sartori S...Toldo I	2014
10	Rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation: review and update. ( 24914877 )	Patwari PP...Wolfe LF	2014
11	Commentary: Rapid-onset Obesity with Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation (ROHHAD): Remember Your ABCs (Airway, Breathing, Circulation). ( 23970914 )	Weese-Mayer DE...Ize-Ludlow D	2013
12	Rapid-onset obesity with hypothalamic dysfunction, hypoventilation and autonomic dysregulation (ROHHAD): a case with additional features and review of the literature. ( 22715259 )	Chew HB...Keng WT	2011
13	Rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation presenting in childhood. ( 17606542 )	Ize-Ludlow D...Weese-Mayer DE	2007

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

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

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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.

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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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