MCID: RHH001
MIFTS: 21

Rohhad

Categories: Metabolic diseases, Neuronal diseases, Rare diseases
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Aliases & Classifications for Rohhad

MalaCards integrated aliases for Rohhad:

Name: Rohhad 19 75
Rapid-Onset Obesity with Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation 71
Rapid-Onset Obesity with Hypothalamic Dysfunction, Hypoventilation and Autonomic Dysregulation 19

Classifications:



External Ids:

UMLS 71 C4053506

Summaries for Rohhad

GARD: 19 ROHHAD is an acronym for rapid-onset obesity (RO) with hypothalamic dysregulation (H), hypoventilation (H), and autonomic dysregulation (AD). It is a rare, serious 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.

MalaCards based summary: Rohhad, also known as rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation, is related to rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome and celiac disease 1. The drugs Lenograstim and Cyclophosphamide have been mentioned in the context of this disorder. Affiliated tissues include hypothalamus, brain and pituitary.

Wikipedia: 75 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 78)
# Related Disease Score Top Affiliating Genes
1 rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome 11.2
2 celiac disease 1 10.4
3 alk-related neuroblastic tumor susceptibility 10.4
4 syndromic obesity 10.4
5 hyperprolactinemia 10.3
6 hypothyroidism 10.2
7 congenital central hypoventilation syndrome 10.2
8 central diabetes insipidus 10.2
9 diabetes insipidus 10.2
10 body mass index quantitative trait locus 11 10.1
11 body mass index quantitative trait locus 9 10.1
12 body mass index quantitative trait locus 8 10.1
13 body mass index quantitative trait locus 4 10.1
14 body mass index quantitative trait locus 10 10.1
15 body mass index quantitative trait locus 7 10.1
16 body mass index quantitative trait locus 12 10.1
17 body mass index quantitative trait locus 14 10.1
18 body mass index quantitative trait locus 18 10.1
19 body mass index quantitative trait locus 19 10.1
20 body mass index quantitative trait locus 20 10.1
21 ganglioneuroma 10.1
22 growth hormone deficiency 10.1
23 apnea, obstructive sleep 10.0
24 diabetes insipidus, neurohypophyseal 10.0
25 leptin deficiency or dysfunction 10.0
26 sleep apnea 10.0
27 ganglioneuroblastoma 10.0
28 neural crest tumor 10.0
29 central hypoventilation syndrome, congenital, 1 10.0
30 leptin receptor deficiency 10.0
31 neuroendocrine tumor 10.0
32 pituitary gland disease 10.0
33 narcolepsy 10.0
34 fatty liver disease 10.0
35 dysautonomia 10.0
36 genetic obesity 10.0
37 angelman syndrome 9.8
38 type 2 diabetes mellitus 9.8
39 hypertension, essential 9.8
40 hypertriglyceridemia 1 9.8
41 narcolepsy 1 9.8
42 prader-willi syndrome 9.8
43 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a 9.8
44 raynaud disease 9.8
45 smith-magenis syndrome 9.8
46 strabismus 9.8
47 pituitary hormone deficiency, combined, 2 9.8
48 congenital hemidysplasia with ichthyosiform erythroderma and limb defects 9.8
49 bulimia nervosa 9.8
50 tatton-brown-rahman syndrome 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 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 Rohhad

Genetic Tests for Rohhad

Anatomical Context for Rohhad

Organs/tissues related to Rohhad:

MalaCards : Hypothalamus, Brain, Pituitary, Liver

Publications for Rohhad

Articles related to Rohhad:

(show top 50) (show all 76)
# 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
Rituximab therapy in ROHHAD(NET) syndrome. 62
35470643 2022
4
ZSCAN1 Autoantibodies Are Associated with Pediatric Paraneoplastic ROHHAD. 62
35466441 2022
5
Identification of clinical factors related to antibody-mediated immune response to the subfornical organ. 62
35419873 2022
6
Autoimmunity Related to Adipsic Hypernatremia and ROHHAD Syndrome. 62
35805903 2022
7
Chewing gum: alternative therapy to oxygen intolerance. 62
35321789 2022
8
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
9
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
10
Thoracic Ganglioneuroma Presenting with Paraneoplastic Cerebellitis and ROHHAD-NET Syndrome. 62
35693680 2022
11
Peri-operative management of a child with ROHHAD-NET syndrome undergoing neural crest tumour excision. 62
35756834 2022
12
Case Report: Considerations of nocturnal ventilator support in ROHHAD syndrome in chronic care of childhood central hypoventilation with hypothalamus dysfunction. 62
36120657 2022
13
Case Report: COVID-19-Associated ROHHAD-Like Syndrome. 62
35433531 2022
14
Images: Sleep-disordered breathing and hypoventilation in a child with obesity and hypothalamic dysfunction. 62
34534067 2022
15
Developmental disorders affecting the respiratory system: CCHS and ROHHAD. 62
36031316 2022
16
ROHHAD syndrome without rapid-onset obesity: A diagnosis challenge. 62
36120648 2022
17
Rhabdomyolysis due to rosuvastatin in a patient with ROHHAD syndrome. 62
34600840 2021
18
Adrenal ganglioneuroma: Prognostic factors (Review). 62
34630692 2021
19
A Case Report of ROHHAD Syndrome in an 8-year-old Iranian Boy. 62
34567137 2021
20
ROHHAD Syndrome an Inconspicuous Cause of Hypernatremia, A Case Report. 62
34279004 2021
21
Neuroimaging and Pathology Findings Associated With Rapid Onset Obesity, Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation (ROHHAD) Syndrome. 62
32925400 2021
22
[Fever for 2 months and disturbance of consciousness for 1 week in a preschool-aged girl]. 62
34020744 2021
23
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
24
Sleep disorders and the hypothalamus. 62
34266606 2021
25
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
26
Obesity Hypoventilation: Traditional Versus Nontraditional Populations. 62
33131656 2020
27
Altered slow-wave sleep activity in children with rapid-onset obesity with hypothalamic dysregulation, hypoventilation, and autonomic dysregulation syndrome. 62
32638701 2020
28
ROHHAD syndrome - A still unrecognized cause of childhood obesity: report of three cases. 62
32990648 2020
29
ROHHAD(NET) Syndrome: Systematic Review of the Clinical Timeline and Recommendations for Diagnosis and Prognosis. 62
32407531 2020
30
A Rare Cause of Sleep-Disordered Breathing: ROHHAD Syndrome. 62
33330273 2020
31
Pulmonary hypertension and chronic hypoventilation in ROHHAD syndrome treated with average-volume assured pressure support. 62
32851331 2019
32
Metastatic neuroblastoma in a patient with ROHHAD: A new alert regarding the risk of aggressive malignancies in this rare condition. 62
31309712 2019
33
Review of paraneoplastic syndromes in children. 62
30877339 2019
34
Natural history of ROHHAD syndrome: development of severe insulin resistance and fatty liver disease over time. 62
31333877 2019
35
Anti-Hypothalamus and Anti-Pituitary Auto-antibodies in ROHHAD Syndrome: Additional Evidence Supporting an Autoimmune Etiopathogenesis. 62
31039576 2019
36
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. 62
30251310 2018
37
Anesthesia in a pediatric patient with ROHADD syndrome. 62
29728260 2018
38
ROHHAD Syndrome, a Rare Cause of Hypothalamic Obesity: Report of Two Cases 62
29553042 2018
39
ROHHAD and Prader-Willi syndrome (PWS): clinical and genetic comparison. 62
30029683 2018
40
Rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation associated with neuroblastoma. 62
29380520 2018
41
Rapid-Onset Obesity with Hypoventilation, Hypothalamic, Autonomic Dysregulation, and Neuroendocrine Tumors (ROHHADNET) Syndrome: A Systematic Review. 62
30584530 2018
42
Rapid-onset obesity with hypothalamic dysregulation, hypoventilation, and autonomic dysregulation (ROHHAD syndrome): A case report and literature review. 62
27340018 2017
43
Cancer and Autoimmunity: Paraneoplastic Neurological Disorders Associated With Neuroblastic Tumors. 62
29103425 2017
44
Rapid-onset obesity, hypothalamic dysfunction, hypoventilation, and autonomic dysregulation in Saudi Arabia. 62
27761566 2016
45
Hypoventilation improvement in an adult non-invasively ventilated patient with Rapid-onset Obesity with Hypothalamic Dysfunction Hypoventilation and Autonomic Dysregulation (ROHHAD). 62
29543408 2016
46
Improved Behavior and Neuropsychological Function in Children With ROHHAD After High-Dose Cyclophosphamide. 62
27313069 2016
47
ROHHAD syndrome and evolution of sleep disordered breathing. 62
27473663 2016
48
ROHHAD Syndrome: The Girl who Forgets to Breathe. 62
27156551 2016
49
Rare Syndromes and Common Variants of the Brain-Derived Neurotrophic Factor Gene in Human Obesity. 62
27288826 2016
50
Absence of mutations in HCRT, HCRTR1 and HCRTR2 in patients with ROHHAD. 62
26555080 2016

Variations for Rohhad

Expression for Rohhad

Search GEO for disease gene expression data for Rohhad.

Pathways for Rohhad

GO Terms for Rohhad

Sources for Rohhad

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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