MCID: CNT048
MIFTS: 44

Central Hypoventilation Syndrome malady

Summaries for Central Hypoventilation Syndrome

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64Wikipedia, 47OMIM, 33MalaCards
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Wikipedia:64 Ondine\'s curse, also called congenital central hypoventilation syndrome (CCHS) or primary alveolar... more...

MalaCards: Central Hypoventilation Syndrome is related to hirschsprung's disease and central hypoventilation syndrome, congenital, with or without hirschsprung disease. An important gene associated with Central Hypoventilation Syndrome is GDNF (glial cell derived neurotrophic factor), and among its related pathways are G-protein signaling H-RAS regulation pathway and Signaling events regulated by Ret tyrosine kinase. The compounds glutamate and bq 3020 have been mentioned in the context of this disorder. Affiliated tissues include brain, cerebellum and heart, and related mouse phenotypes are pigmentation and respiratory system.

Description from OMIM:47 209880

Aliases & Classifications for Central Hypoventilation Syndrome

Sources:
47OMIM
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Aliases & Descriptions:

central hypoventilation syndrome 47


Related Diseases for Central Hypoventilation Syndrome

Sources:
17GeneCards, 18GeneDecks
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Diseases in the central hypoventilation syndrome, congenital, with or without hirschsprung disease family:

congenital central hypoventilation syndrome central hypoventilation syndrome

Diseases related to Central Hypoventilation Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 72)
idRelated DiseaseScoreTop Affiliating Genes
1hirschsprung's disease31.0PHOX2B, EDNRB, EDN3, GDNF, RET, GFRA1
2central hypoventilation syndrome, congenital, with or without hirschsprung disease30.7BDNF, PHOX2B, RET
3sudden infant death syndrome30.6PHOX2B, TH, EN1
4congenital central hypoventilation syndrome11.3
5n syndrome10.9
6adult syndrome10.5
7autonomic dysfunction10.4
8central sleep apnea10.3
9char syndrome10.3
10young syndrome10.3
11bod syndrome10.3
12rohhad10.3
13sleep apnea10.3
14hyperinsulinism10.1
15ganglioneuroma10.1
16congenital fiber-type disproportion10.1
17short syndrome10.1
18image syndrome10.1
19brain injury10.1
20central cord syndrome10.1
21hypoxia10.1
22phaeochromocytoma10.0RET
23astrocytoma10.0GDNF
24exotropia10.0PHOX2A
25neuroepithelioma10.0GRP
26familial medullary thyroid carcinoma10.0GDNF
27attention deficit hyperactivity disorder10.0BDNF
28pituitary adenoma10.0RET, GDNF
29motor neuron disease10.0BDNF, GDNF
30waardenburg syndrome type 410.0RET, EDN3, EDNRB
31waardenburg's syndrome10.0RET, EDN3, EDNRB
32developmental disabilities10.0RET, EDNRB, BDNF
33colon adenocarcinoma10.0GRP
34glioblastoma multiforme10.0GRP, GDNF
35hypertension10.0TH, EDNRB
36neonatal hypoxic and ischemic brain injury10.0BDNF, TH
37sarcoma10.0TH
38rett syndrome10.0TH, BDNF
39intestinal obstruction10.0RET, GDNF, EDN3, EDNRB
40neuroblastoma10.0TH, PHOX2B, BDNF
41glaucoma10.0BDNF, EDNRB, GDNF, RET
42adenocarcinoma10.0ASCL1, GRP, EDNRB, BDNF
43multiple endocrine neoplasia type 2a10.0GDNF, RET, GFRA1
44renal agenesis10.0GDNF, RET, GFRA1
45dopa-responsive cervical dystonia10.0TH, BDNF
46multiple system atrophy10.0TH, GDNF
47multiple endocrine neoplasia10.0GDNF, RET, TH
48lung small cell carcinoma10.0EDNRB, GRP, GDNF, ASCL1
49wilms tumor10.0TH, GDNF, BDNF
50paraganglioma10.0TH, RET, GRP

Graphical network of the top 20 diseases related to Central Hypoventilation Syndrome:



Diseases related to central hypoventilation syndrome

Clinical Features for Central Hypoventilation Syndrome

Sources:
47OMIM
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Clinical features from OMIM:

209880

Drugs & Therapeutics for Central Hypoventilation Syndrome

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Central Hypoventilation Syndrome

Drug clinical trials:

Search ClinicalTrials for Central Hypoventilation Syndrome

Search NIH Clinical Center for Central Hypoventilation Syndrome

Search CenterWatch for Central Hypoventilation Syndrome

Genetic Tests for Central Hypoventilation Syndrome

Anatomical Context for Central Hypoventilation Syndrome

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33MalaCards
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MalaCards organs/tissues related to Central Hypoventilation Syndrome:

33
Brain, Cerebellum, Heart, Small intestine, Breast, Fetal brain, Ciliary ganglion

Animal Models for Central Hypoventilation Syndrome or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
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Publications for Central Hypoventilation Syndrome

Sources:
51PubMed
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Articles related to Central Hypoventilation Syndrome:

(show top 50)    (show all 224)
idTitleAuthorsYear
1
Neurally adjusted ventilatory assist (NAVA) mode as an adjunct diagnostic tool in congenital central hypoventilation syndrome. (23374524)
2013
2
Peripheral chemoreceptors in congenital central hypoventilation syndrome. (23099221)
2013
3
Congenital central hypoventilation syndrome with PHOX2B gene mutation: are we missing the diagnosis? (22829249)
2013
4
Congenital central hypoventilation syndrome; Safety of early transition to non-invasive ventilation. (23843332)
2013
5
PHOX2B Mutation in a Taiwanese Newborn with Congenital Central Hypoventilation Syndrome. (23597545)
2013
6
Slowly progressive sleep apnea in late-onset central hypoventilation syndrome. (22507157)
2012
7
Germline mosaicism of PHOX2B mutation accounts for familial recurrence of congenital central hypoventilation syndrome (CCHS). (22821709)
2012
8
Congenital central hypoventilation syndrome with hirschsprung's disease due to PHOX2B gene mutation in a Turkish infant. (23427517)
2012
9
Case reports of congenital central hypoventilation syndrome. (22564311)
2012
10
A case of late-onset central hypoventilation syndrome with hypothalamic dysfunction: through a new phenotype. (20560260)
2010
11
An unusual presentation of congenital central hypoventilation syndrome (Ondine's Curse). (20304901)
2010
12
Congenital central hypoventilation syndrome and the PHOX2B gene: a model of respiratory and autonomic dysregulation. (20601214)
2010
13
Average volume-assured pressure support in a 16-year-old girl with congenital central hypoventilation syndrome. (21206552)
2010
14
Rostral brain axonal injury in congenital central hypoventilation syndrome. (20209631)
2010
15
Hippocampal volume reduction in congenital central hypoventilation syndrome. (19649271)
2009
16
Central congenital hypoventilation syndrome: changing face of a less mysterious but more complex genetic disorder. (19452387)
2009
17
Congenital Central Hypoventilation syndrome (Ondine's curse): prenatal diagnosis and fetal breathing characteristics. (19784002)
2009
18
Reduced caudate nuclei volumes in patients with congenital central hypoventilation syndrome. (19632307)
2009
19
Congenital central hypoventilation syndrome (CCHS) with Hirschsprung disease (Haddad syndrome): an unusual cause of reduced baseline variability of the fetal heart rate. (19274556)
2009
20
PHOX2B mutation-confirmed congenital central hypoventilation syndrome in a Chinese family: presentation from newborn to adulthood. (19201717)
2009
21
PHOX2B germline and somatic mutations in late-onset central hypoventilation syndrome. (18079495)
2008
22
Structural abnormalities in the brainstem and cerebellum in congenital central hypoventilation syndrome: commentary on the article by Kumar et al. on page 275. (18714200)
2008
23
Concomitant existence of total bowel aganglionosis and congenital central hypoventilation syndrome in a neonate with PHOX2B gene mutation. (17270534)
2007
24
Vagal and sympathetic heart rate and blood pressure control in adult onset PHOX2B mutation-confirmed congenital central hypoventilation syndrome. (17541758)
2007
25
Cardiac pacing in a patient with diaphragm pacing for congenital central hypoventilation syndrome (Ondine's curse). (16836681)
2006
26
PHOX2B mutations in three Chinese patients with congenital central hypoventilation syndrome. (17097025)
2006
27
Elevated mean diffusivity in widespread brain regions in congenital central hypoventilation syndrome. (17075838)
2006
28
Congenital central hypoventilation syndrome: PHOX2B mutations and phenotype. (16888290)
2006
29
Congenital central hypoventilation syndrome and Hirschsprung's disease in an extremely preterm infant. (15930201)
2005
30
Hypoxia reveals posterior thalamic, cerebellar, midbrain, and limbic deficits in congenital central hypoventilation syndrome. (15531561)
2005
31
fMRI signal changes in response to forced expiratory loading in congenital central hypoventilation syndrome. (15258126)
2004
32
PHOX2B mutations and polyalanine expansions correlate with the severity of the respiratory phenotype and associated symptoms in both congenital and late onset Central Hypoventilation syndrome. (15121777)
2004
33
Epidemiologic survey of 196 patients with congenital central hypoventilation syndrome. (14966815)
2004
34
Congenital central hypoventilation syndrome: not just another rare disorder. (15276129)
2004
35
24-hour BP in children with congenital central hypoventilation syndrome. (14555571)
2003
36
Idiopathic congenital central hypoventilation syndrome: analysis of genes pertinent to early autonomic nervous system embryologic development and identification of mutations in PHOX2b. (14608649)
2003
37
Mutational analysis of the RNX gene in congenital central hypoventilation syndrome. (12407709)
2002
38
Congenital central hypoventilation syndrome: a novel mutation of the RET gene in an isolated case. (12086152)
2002
39
Genetic segregation analysis of autonomic nervous system dysfunction in families of probands with idiopathic congenital central hypoventilation syndrome. (11343309)
2001
40
Passive motion of the extremities modifies alveolar ventilation during sleep in patients with congenital central hypoventilation syndrome. (11069807)
2000
41
Association of misoprostol, Moebius syndrome and congenital central alveolar hypoventilation. Case report. (10347731)
1999
42
Congenital central hypoventilation syndrome and Hirschsprung's disease. (9623393)
1998
43
Bi-level positive airway pressure (BiPAP) ventilation in an infant with central hypoventilation syndrome. (9261857)
1997
44
Congenital central hypoventilation syndrome: inheritance and relation to sudden infant death syndrome. (8135282)
1993
45
Peripheral chemoreceptor function in children with the congenital central hypoventilation syndrome. (8444717)
1993
46
Hypercapneic arousal responses in children with congenital central hypoventilation syndrome. (1945641)
1991
47
Hypoxic and hypercapnic ventilatory responses in awake children with congenital central hypoventilation syndrome. (2764373)
1989
48
Congenital central hypoventilation syndrome treated with diaphragm pacing. (6601358)
1983
49
Central hypoventilation syndrome: experience with bilateral phrenic nerve pacing in 3 neonates. (354443)
1978
50
Congenital central hypoventilation syndrome: a pathologic study of the neuromuscular system. (570656)
1978

Genetic Variations for Central Hypoventilation Syndrome

Expression for genes affiliated with Central Hypoventilation Syndrome

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Central Hypoventilation Syndrome

Search GEO for disease gene expression data for Central Hypoventilation Syndrome.

Pathways for genes affiliated with Central Hypoventilation Syndrome

Sources:
12EMD Millipore, 38NCBI BioSystems Database, 52QIAGEN
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Pathways related to Central Hypoventilation Syndrome according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
G-protein signaling H-RAS regulation pathway
Hide members
9.6GDNF, RET, GFRA1
29.6GFRA1, RET, GDNF
3
Hide members
9.3BDNF, GDNF, RET, GFRA1
47.7PHOX2A, BDNF, TLX3, PHOX2B, RET, TH

Compounds for genes affiliated with Central Hypoventilation Syndrome

Sources:
45Novoseek, 29IUPHAR, 11DrugBank, 60Tocris Bioscience, 24HMDB, 50PharmGKB
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Compounds related to Central Hypoventilation Syndrome according to GeneCards/GeneDecks:

(show top 50)    (show all 71)
idCompoundScoreTop Affiliating Genes
1glutamate4510.6GDNF
2bq 302045 2911.3EDN3, EDNRB
3bq6104510.3EDN3, EDNRB
4pd 1428934510.3EDN3, EDNRB
5sarafotoxin4510.3EDN3, EDNRB
6tezosentan4510.3EDN3, EDNRB
7irl 162045 2911.3EDNRB, EDN3
8fr13931745 2911.3EDN3, EDNRB
9propargylamine4510.2BDNF, GDNF
10bq78845 2911.2EDN3, EDNRB
11bq12345 2911.1EDN3, EDNRB
12dopac4510.1GDNF, TH, BDNF
133-nitropropionic acid4510.1TH, BDNF
141 methyl 4 phenylpyridinium4510.1BDNF, TH, GDNF
15selegiline45 1111.0GDNF, BDNF, TH
166-hydroxydopamine4510.0BDNF, GDNF, TH
17mptp4510.0TH, GDNF, BDNF
18bosentan45 1110.9EDN3, EDNRB
19dbc-amp459.9GDNF, EDN3, BDNF
20levodopa45 1110.8TH, GDNF, EDN3, BDNF
21melatonin45 60 29 11 2413.8GDNF, EDNRB, BDNF
22riluzole45 29 1111.7BDNF, GDNF
23catecholamine459.7GDNF, TH, RET, BDNF
24phenylalanine459.6RET, BDNF, ASCL1, TH
25phosphoramidon45 1110.5GRP, EDN3, EDNRB
26amphetamine45 1110.4TH, GRP, GDNF
27capsaicin45 2910.4GDNF, GRP, BDNF
28tetrodotoxin45 60 2911.2GRP, EDN3, BDNF, TH
29cocaine45 1110.2GDNF, GRP, BDNF, TH
30carbachol45 29 1111.2TH, BDNF, EDN3, GRP
31thapsigargin45 6010.2BDNF, EDN3, GRP, TH
32aspartate459.2GDNF, BDNF, RET, EDNRB, EDN3, TH
33gnrh459.1GRP, BDNF, TH, EDN3
34gaba459.1GRP, TH, GDNF, BDNF
35indomethacin45 60 29 1112.1EDN3, EDNRB, BDNF, GRP
36nmda45 2910.0GRP, TH, BDNF
37dexamethasone45 50 29 1111.9EDNRB, EDN3, GRP, TH, GDNF
38choline45 11 2410.9RET, TH, GRP, BDNF, GDNF
39acetylcholine45 50 29 11 2412.7EDN3, GRP, GDNF, TH, EDNRB, BDNF
40adenylate458.7EDNRB, GRP, GDNF, TH, BDNF, EDN3
41histamine45 29 2410.7BDNF, TH, GRP, EDN3
42testosterone45 60 11 2411.5EDN3, RET, GRP, BDNF, TH
43cyclic amp45 249.4TH, RET, GDNF, BDNF, GRP, PHOX2B
44phosphatidylinositol458.4GRP, EDN3, EDNRB, BDNF, GDNF, RET
45alanine458.4GRP, PHOX2B, RET, TH, GDNF, EDN3
46vegf458.3BDNF, EDNRB, EDN3, GRP, GDNF, RET
47retinoic acid45 249.3GRP, RET, EDNRB, ASCL1, BDNF, TH
48norepinephrine45 11 2410.2EDNRB, TH, GDNF, GRP, BDNF, PHOX2A
49dopamine45 29 11 2411.2TH, BDNF, PHOX2A, PHOX2B, GDNF, EDN3
50tyrosine456.8GDNF, BDNF, ASCL1, TLX1, PHOX2A, EDNRB

GO Terms for genes affiliated with Central Hypoventilation Syndrome

Sources:
16Gene Ontology
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Biological processes related to Central Hypoventilation Syndrome according to GeneCards/GeneDecks:

(show all 17)
idNameGO IDScoreTop Affiliating Genes
1vein smooth muscle contractionGO:01482610.2EDNRB, EDN3
2noradrenergic neuron differentiationGO:00335710.2PHOX2B, PHOX2A
3posterior midgut developmentGO:00749710.1RET, EDNRB
4dopaminergic neuron differentiationGO:07154210.1PHOX2A, PHOX2B
5neuron fate specificationGO:0486659.9TLX3, ASCL1
6vasoconstrictionGO:0423109.9EDN3, EDNRB
7positive regulation of neuron differentiationGO:0456669.9ASCL1, PHOX2B, BDNF
8regulation of respiratory gaseous exchange by neurological system processGO:0020879.9TLX3, PHOX2B
9negative regulation of neuron differentiationGO:0456659.8ASCL1, PHOX2B, TLX3
10sympathetic nervous system developmentGO:0484859.8PHOX2A, PHOX2B, GDNF, ASCL1
11neuron migrationGO:0017649.8TLX3, PHOX2B, ASCL1
12response to painGO:0482659.7EDNRB, RET
13enteric nervous system developmentGO:0484849.7RET, GDNF, EDNRB, PHOX2B
14neural crest cell migrationGO:0017559.6RET, GDNF, EDN3, EDNRB
15cell surface receptor signaling pathwayGO:0071669.6GFRA1, EDN3, EDNRB
16pigmentationGO:0434739.2EN1, TH
17positive regulation of transcription from RNA polymerase II promoterGO:0459448.2TLX1, UBC, PHOX2A, PHOX2B, GDNF, EN1

Molecular functions related to Central Hypoventilation Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1RNA polymerase II regulatory region sequence-specific DNA bindingGO:0009779.9PHOX2B, PHOX2A
2receptor bindingGO:0051028.6EDN3, GRP, GDNF, GFRA1
3sequence-specific DNA binding transcription factor activityGO:0037008.1ASCL1, EN1, PHOX2B, PHOX2A, TLX1, TLX3

Products for genes affiliated with Central Hypoventilation Syndrome

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Sources for Central Hypoventilation Syndrome

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet