MCID: RHH001
MIFTS: 27

Rohhad

Categories: Rare diseases, Metabolic diseases

Aliases & Classifications for Rohhad

MalaCards integrated aliases for Rohhad:

Name: Rohhad 53
Rapid-Onset Obesity with Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation 73
Rapid-Onset Obesity with Hypothalamic Dysfunction, Hypoventilation and Autonomic Dysregulation 53

Classifications:



External Ids:

UMLS 73 C4053506

Summaries for Rohhad

NIH Rare Diseases : 53 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 sleep disorder and rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome. 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 Lenograstim and Cyclophosphamide have been mentioned in the context of this disorder. Affiliated tissues include hypothalamus.

Wikipedia : 76 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:

# Related Disease Score Top Affiliating Genes
1 sleep disorder 27.8 HCRT HCRTR1 HCRTR2
2 rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome 11.3
3 hypothalamic disease 10.4
4 anxiety 9.9
5 autonomic dysfunction 9.9
6 hallucinogen dependence 9.2 HCRTR1 HCRTR2
7 cluster headache 9.2 HCRT HCRTR2
8 narcolepsy 8.6 HCRT HCRTR1 HCRTR2

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
Lenograstim Approved, Investigational Not Applicable 135968-09-1
2
Cyclophosphamide Approved, Investigational Not Applicable 50-18-0, 6055-19-2 2907
3 Alkylating Agents Not Applicable
4 Immunosuppressive Agents Not Applicable
5 Antirheumatic Agents Not Applicable
6 Antineoplastic Agents, Alkylating Not Applicable

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 International Rapid-onset Obesity With Hypothalamic Dysfunction, Hypoventilation & Autonomic Dysregulation (ROHHAD) Registry Recruiting NCT03135730
2 Treatment of Rapid Onset Obesity, Hypoventilation, Hypothalamic Dysfunction, and Autonomic Dysregulation (ROHHAD ) Recruiting NCT02441491 Not Applicable Cyclophosphamide
3 Metabolic Phenotyping in Children With ROHHAD Syndrome Recruiting NCT02602769

Search NIH Clinical Center for Rohhad

Genetic Tests for Rohhad

Anatomical Context for Rohhad

MalaCards organs/tissues related to Rohhad:

41
Hypothalamus

Publications for Rohhad

Articles related to Rohhad:

(show all 25)
# Title Authors Year
1
A Rare Cause of Hypothalamic Obesity, Rohhad Syndrome: 2 Cases. ( 29553042 )
2018
2
ROHHAD Syndrome: The Girl who Forgets to Breathe. ( 27156551 )
2016
3
Rapid-onset obesity with hypothalamic dysregulation, hypoventilation, and autonomic dysregulation (ROHHAD syndrome): A case report and literature review. ( 27340018 )
2016
4
Psychiatric Symptoms in Rapid-onset Obesity with Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation Syndrome and its Treatment: A Case Report. ( 26830999 )
2016
5
Improved Behavior and Neuropsychological Function in Children With ROHHAD After High-Dose Cyclophosphamide. ( 27313069 )
2016
6
ROHHAD in 9-year-old boy - clinical case. ( 26884306 )
2016
7
ROHHAD syndrome and evolution of sleep disordered breathing. ( 27473663 )
2016
8
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
9
Hypoventilation improvement in an adult non-invasively ventilated patient with Rapid-onset Obesity with Hypothalamic Dysfunction Hypoventilation and Autonomic Dysregulation (ROHHAD). ( 29543408 )
2016
10
Rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation (ROHHAD): Response to ventilatory challenges. ( 25776886 )
2015
11
Absence of Mutations in HCRT, HCRTR1 and HCRTR2 in patients with ROHHAD. ( 26555080 )
2015
12
Rapid-Onset Obesity With Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation (ROHHAD) Syndrome May Have a Hypothalamus-Periaqueductal Gray Localization. ( 25746964 )
2015
13
Rapid-Onset Obesity with Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation (ROHHAD): exome sequencing of trios, monozygotic twins and tumours. ( 26302956 )
2015
14
Whole Exome Sequencing Identifies RAI1 Mutation in a Morbidly Obese Child Diagnosed with ROHHAD Syndrome. ( 25781356 )
2015
15
Intrathecal synthesis of oligoclonal bands in rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation syndrome: new evidence supporting immunological pathogenesis. ( 23292759 )
2014
16
ROHHAD Syndrome: Reasons for Diagnostic Difficulties in Obesity. ( 25541898 )
2014
17
Rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation: review and update. ( 24914877 )
2014
18
Commentary: Rapid-onset Obesity with Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation (ROHHAD): Remember Your ABCs (Airway, Breathing, Circulation). ( 23970914 )
2013
19
Hypocretin-1 deficiency in a girl with ROHHAD syndrome. ( 23940246 )
2013
20
Nocturnal Anxiety in a Youth with Rapid-onset Obesity, Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation (ROHHAD). ( 23970913 )
2013
21
Anesthetic considerations for rapid-onset obesity, hypoventilation, hypothalamic dysfunction, and autonomic dysfunction (ROHHAD) syndrome in children. ( 22862685 )
2013
22
Noninvasive ventilation in a child with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation (ROHHAD). ( 23059524 )
2012
23
Monozygotic twins discordant for ROHHAD phenotype. ( 21807698 )
2011
24
Rapid-onset obesity with hypothalamic dysfunction, hypoventilation and autonomic dysregulation (ROHHAD): a case with additional features and review of the literature. ( 22715259 )
2011
25
Rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation presenting in childhood. ( 17606542 )
2007

Variations for Rohhad

Expression for Rohhad

Search GEO for disease gene expression data for Rohhad.

Pathways for Rohhad

GO Terms for Rohhad

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 9.63 HCRT HCRTR1 HCRTR2
2 phospholipase C-activating G-protein coupled receptor signaling pathway GO:0007200 9.43 HCRT HCRTR2
3 chemical synaptic transmission GO:0007268 9.43 HCRT HCRTR1 HCRTR2
4 cellular response to hormone stimulus GO:0032870 9.4 HCRTR1 HCRTR2
5 regulation of cytosolic calcium ion concentration GO:0051480 9.37 HCRTR1 HCRTR2
6 response to peptide GO:1901652 9.32 HCRTR1 HCRTR2
7 regulation of circadian sleep/wake cycle, sleep GO:0045187 9.16 HCRTR1 HCRTR2
8 neuropeptide signaling pathway GO:0007218 9.13 HCRT HCRTR1 HCRTR2
9 feeding behavior GO:0007631 8.8 HCRT HCRTR1 HCRTR2

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

# Name GO ID Score Top Affiliating Genes
1 peptide binding GO:0042277 9.16 HCRTR1 HCRTR2
2 peptide hormone binding GO:0017046 8.96 HCRTR1 HCRTR2
3 orexin receptor activity GO:0016499 8.62 HCRTR1 HCRTR2

Sources for Rohhad

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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