MCID: RHH001
MIFTS: 27

Rohhad

Categories: Metabolic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Rohhad

MalaCards integrated aliases for Rohhad:

Name: Rohhad 20
Rapid-Onset Obesity with Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation 70
Rapid-Onset Obesity with Hypothalamic Dysfunction, Hypoventilation and Autonomic Dysregulation 20

Classifications:



External Ids:

UMLS 70 C4053506

Summaries for Rohhad

GARD : 20 ROHHAD is an acronym for rapid-onset obesity (RO) with hypothalamic dysregulation (H), hypoventilation (H), and autonomic dysregulation (AD). It is a rare, life-threatening syndrome that affects the autonomic nervous system (which controls involuntary actions like breathing and your heartbeat) and the endocrine system. As the name suggests, the key features include dramatic weight gain over a six- to 12-month period in the first 10 years of life, followed by hypothalamic dysfunction, dysregulation of the autonomic nervous system, and alveolar hypoventilation. Children with ROHHAD appear to have normal growth, development, and general health prior to onset of symptoms. The cause of ROHHAD is currently unknown. Treatment varies based on the signs and symptoms present in each person.

MalaCards based summary : Rohhad, also known as rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation, is related to anxiety and narcolepsy. An important gene associated with Rohhad is HCRT (Hypocretin Neuropeptide Precursor), and among its related pathways/superpathways are Peptide ligand-binding receptors and Circadian rythm related genes. The drugs Cyclophosphamide and Lenograstim have been mentioned in the context of this disorder. Affiliated tissues include brain, hypothalamus and pituitary.

Wikipedia : 73 Rapid-onset obesity with hypothalamic dysregulation, hypoventilation, and autonomic dysregulation... more...

Related Diseases for Rohhad

Diseases related to Rohhad via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 62)
# Related Disease Score Top Affiliating Genes
1 anxiety 29.1 HCRTR1 HCRT
2 narcolepsy 29.1 HCRTR2 HCRTR1 HCRT
3 sleep disorder 28.9 HCRTR2 HCRTR1 HCRT
4 rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome 11.0
5 celiac disease 1 10.4
6 alk-related neuroblastic tumor susceptibility 10.4
7 body mass index quantitative trait locus 11 10.2
8 body mass index quantitative trait locus 9 10.2
9 body mass index quantitative trait locus 8 10.2
10 body mass index quantitative trait locus 4 10.2
11 body mass index quantitative trait locus 10 10.2
12 body mass index quantitative trait locus 7 10.2
13 body mass index quantitative trait locus 12 10.2
14 body mass index quantitative trait locus 14 10.2
15 body mass index quantitative trait locus 18 10.2
16 hyperprolactinemia 10.2
17 body mass index quantitative trait locus 19 10.2
18 autonomic dysfunction 10.2
19 hypothyroidism 10.2
20 central hypoventilation syndrome, congenital 10.0
21 sleep apnea 10.0
22 ganglioneuroblastoma 10.0
23 diabetes insipidus 10.0
24 growth hormone deficiency 10.0
25 cardiac arrest 10.0
26 gangliocytoma 10.0
27 ganglioneuroma 10.0
28 neural crest tumor 10.0
29 genetic obesity 10.0
30 periodic limb movement disorder 9.9 HCRTR2 HCRT
31 advanced sleep phase syndrome 9.8 HCRTR2 HCRT
32 prader-willi syndrome 9.8
33 smith-magenis syndrome 9.8
34 strabismus 9.8
35 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 9.8
36 leptin deficiency or dysfunction 9.8
37 pulmonary hypertension 9.8
38 scoliosis 9.8
39 hyperekplexia 9.8
40 mixed sleep apnea 9.8
41 respiratory failure 9.8
42 megaloblastic anemia 9.8
43 neuroendocrine tumor 9.8
44 hypogonadism 9.8
45 liver disease 9.8
46 pituitary gland disease 9.8
47 central pontine myelinolysis 9.8
48 neuroblastoma 9.8
49 mechanical strabismus 9.8
50 fatty liver disease 9.8

Graphical network of the top 20 diseases related to Rohhad:



Diseases related to Rohhad

Symptoms & Phenotypes for Rohhad

Drugs & Therapeutics for Rohhad

Drugs for Rohhad (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

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

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 Rohhad

Genetic Tests for Rohhad

Anatomical Context for Rohhad

MalaCards organs/tissues related to Rohhad:

40
Brain, Hypothalamus, Pituitary

Publications for Rohhad

Articles related to Rohhad:

(show top 50) (show all 54)
# Title Authors PMID Year
1
Rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation: review and update. 20 61
24914877 2014
2
Rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation: analysis of hypothalamic and autonomic candidate genes. 20 61
21691246 2011
3
Rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation presenting in childhood. 20 61
17606542 2007
4
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. 61
33270379 2021
5
ROHHAD (Rapid-onset Obesity with Hypoventilation, Hypothalamic Dysfunction, Autonomic Dysregulation) Syndrome-What Every Pediatrician Should Know About the Etiopathogenesis, Diagnosis and Treatment: A Review. 61
33542648 2021
6
Obesity Hypoventilation: Traditional Versus Nontraditional Populations. 61
33131656 2020
7
Altered slow-wave sleep activity in children with rapid-onset obesity with hypothalamic dysregulation, hypoventilation, and autonomic dysregulation syndrome. 61
32638701 2020
8
ROHHAD syndrome - A still unrecognized cause of childhood obesity: report of three cases. 61
32990648 2020
9
Neuroimaging and Pathology Findings Associated With Rapid Onset Obesity, Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation (ROHHAD) Syndrome. 61
32925400 2020
10
ROHHAD(NET) Syndrome: Systematic Review of the Clinical Timeline and Recommendations for Diagnosis and Prognosis. 61
32407531 2020
11
A Rare Cause of Sleep-Disordered Breathing: ROHHAD Syndrome. 61
33330273 2020
12
Pulmonary hypertension and chronic hypoventilation in ROHHAD syndrome treated with average-volume assured pressure support. 61
32851331 2019
13
Metastatic neuroblastoma in a patient with ROHHAD: A new alert regarding the risk of aggressive malignancies in this rare condition. 61
31309712 2019
14
Review of paraneoplastic syndromes in children. 61
30877339 2019
15
Anti-Hypothalamus and Anti-Pituitary Auto-antibodies in ROHHAD Syndrome: Additional Evidence Supporting an Autoimmune Etiopathogenesis. 61
31039576 2019
16
Natural history of ROHHAD syndrome: development of severe insulin resistance and fatty liver disease over time. 61
31333877 2019
17
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. 61
30251310 2018
18
ROHHAD Syndrome, a Rare Cause of Hypothalamic Obesity: Report of Two Cases 61
29553042 2018
19
Anesthesia in a pediatric patient with ROHADD syndrome. 61
29728260 2018
20
ROHHAD and Prader-Willi syndrome (PWS): clinical and genetic comparison. 61
30029683 2018
21
Rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation associated with neuroblastoma. 61
29380520 2018
22
Rapid-Onset Obesity with Hypoventilation, Hypothalamic, Autonomic Dysregulation, and Neuroendocrine Tumors (ROHHADNET) Syndrome: A Systematic Review. 61
30584530 2018
23
Rapid-onset obesity with hypothalamic dysregulation, hypoventilation, and autonomic dysregulation (ROHHAD syndrome): A case report and literature review. 61
27340018 2017
24
Cancer and Autoimmunity: Paraneoplastic Neurological Disorders Associated With Neuroblastic Tumors. 61
29103425 2017
25
Rapid-onset obesity, hypothalamic dysfunction, hypoventilation, and autonomic dysregulation in Saudi Arabia. 61
27761566 2016
26
Hypoventilation improvement in an adult non-invasively ventilated patient with Rapid-onset Obesity with Hypothalamic Dysfunction Hypoventilation and Autonomic Dysregulation (ROHHAD). 61
29543408 2016
27
ROHHAD syndrome and evolution of sleep disordered breathing. 61
27473663 2016
28
Improved Behavior and Neuropsychological Function in Children With ROHHAD After High-Dose Cyclophosphamide. 61
27313069 2016
29
ROHHAD Syndrome: The Girl who Forgets to Breathe. 61
27156551 2016
30
Absence of mutations in HCRT, HCRTR1 and HCRTR2 in patients with ROHHAD. 61
26555080 2016
31
Rare Syndromes and Common Variants of the Brain-Derived Neurotrophic Factor Gene in Human Obesity. 61
27288826 2016
32
Rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation syndrome and celiac disease in a 13-year-old girl: further evidence for autoimmunity? 61
26352082 2016
33
Psychiatric Symptoms in Rapid-onset Obesity with Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation Syndrome and its Treatment: A Case Report. 61
26830999 2016
34
ROHHAD in a 9-year-old boy — clinical case. 61
26884306 2016
35
Rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation (ROHHAD): Response to ventilatory challenges. 61
25776886 2015
36
Rapid-Onset Obesity with Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation (ROHHAD): exome sequencing of trios, monozygotic twins and tumours. 61
26302956 2015
37
Rapid-onset obesity, hypoventilation, hypothalamic dysfunction, autonomic dysregulation syndrome. 61
26229761 2015
38
Rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation (ROHHAD) syndrome may have a hypothalamus-periaqueductal gray localization. 61
25746964 2015
39
Whole exome sequencing identifies RAI1 mutation in a morbidly obese child diagnosed with ROHHAD syndrome. 61
25781356 2015
40
ROHHAD Syndrome: Reasons for Diagnostic Difficulties in Obesity. 61
25541898 2014
41
Evaluation and treatment of autoimmune neurologic disorders in the pediatric intensive care unit. 61
25727510 2014
42
Intrathecal synthesis of oligoclonal bands in rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation syndrome: new evidence supporting immunological pathogenesis. 61
23292759 2014
43
Hypocretin-1 deficiency in a girl with ROHHAD syndrome. 61
23940246 2013
44
Commentary: Rapid-onset Obesity with Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation (ROHHAD): Remember Your ABCs (Airway, Breathing, Circulation). 61
23970914 2013
45
Nocturnal Anxiety in a Youth with Rapid-onset Obesity, Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation (ROHHAD). 61
23970913 2013
46
[A not very essential obesity: the Rohhad syndrome. Description of two cases and review of the literature]. 61
24245102 2013
47
A case of rapid-onset obesity with hypothalamic dysfunction, hypoventilation, autonomic dysregulation, and neural crest tumor: ROHHADNET syndrome. 61
23186956 2013
48
Anesthetic considerations for rapid-onset obesity, hypoventilation, hypothalamic dysfunction, and autonomic dysfunction (ROHHAD) syndrome in children. 61
22862685 2013
49
Autoimmune encephalitis in children. 61
22935553 2012
50
Noninvasive ventilation in a child with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation (ROHHAD). 61
23059524 2012

Variations for Rohhad

Expression for Rohhad

Search GEO for disease gene expression data for Rohhad.

Pathways for Rohhad

GO Terms for Rohhad

Cellular components related to Rohhad according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 synapse GO:0045202 8.8 HCRTR2 HCRTR1 HCRT

Biological processes related to Rohhad according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 G protein-coupled receptor signaling pathway GO:0007186 9.54 HCRTR2 HCRTR1 HCRT
2 chemical synaptic transmission GO:0007268 9.33 HCRTR2 HCRTR1 HCRT
3 phospholipase C-activating G protein-coupled receptor signaling pathway GO:0007200 9.32 HCRTR2 HCRT
4 regulation of cytosolic calcium ion concentration GO:0051480 9.26 HCRTR2 HCRTR1
5 neuropeptide signaling pathway GO:0007218 9.13 HCRTR2 HCRTR1 HCRT
6 feeding behavior GO:0007631 8.8 HCRTR2 HCRTR1 HCRT

Molecular functions related to Rohhad according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 peptide hormone binding GO:0017046 8.96 HCRTR2 HCRTR1
2 orexin receptor activity GO:0016499 8.62 HCRTR2 HCRTR1

Sources for Rohhad

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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