MCID: CNT048
MIFTS: 52

Central Hypoventilation Syndrome malady

Genetic diseases, Rare diseases categories

Summaries for Central Hypoventilation Syndrome

About this section
Sources:
66Wikipedia, 48OMIM, 34MalaCards
See all sources

Fully expand this MalaCard

Download this MalaCard
Wikipedia:66 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 Signaling events regulated by Ret tyrosine kinase and G protein signaling H RAS regulation pathway. The compounds bq610 and pd 142893 have been mentioned in the context of this disorder. Affiliated tissues include heart, brain and eye, and related mouse phenotypes are pigmentation and vision/eye.

Description from OMIM:48 209880

Aliases & Classifications for Central Hypoventilation Syndrome

About this section
Sources:
48OMIM
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases


Aliases & Descriptions:

central hypoventilation syndrome 48


Related Diseases for Central Hypoventilation Syndrome

About this section
Sources:
18GeneCards, 19GeneDecks
See all sources

Diseases in the Congenital Central Hypoventilation Syndrome family:

central hypoventilation syndrome

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

(show top 50)    (show all 68)
idRelated DiseaseScoreTop Affiliating Genes
1hirschsprung's disease30.9GDNF, EDNRB, EDN3, GFRA1, RET, PHOX2B
2central hypoventilation syndrome, congenital, with or without hirschsprung disease30.8BDNF, PHOX2B, RET
3sudden infant death syndrome30.7TH, EN1, PHOX2B
4neuroblastoma30.5BDNF, PHOX2B, TH
5ganglioneuroma30.2RET, TH
6congenital central hypoventilation syndrome11.3
7cerebritis10.3
8sleep apnea10.3
9rohhad10.3
10obstructive sleep apnea10.1
11neuronitis10.1
12hyperinsulinism10.1
13down syndrome10.1
14encephalitis10.1
15esophagitis10.1
16ganglioneuroblastoma10.1
17hyperglycemia10.1
18hypertension10.1
19influenza10.1
20learning disability10.1
21meningitis10.1
22autonomic dysfunction10.1
23hypoxia10.1
24cor pulmonale10.1
25familial medullary thyroid carcinoma10.1GDNF
26renal dysplasia10.1GDNF, RET
27neuroma10.1RET, GDNF
28waardenburg syndrome type 410.1RET, EDN3, EDNRB
29waardenburg's syndrome10.1RET, EDN3, EDNRB
30brain ischemia10.1BDNF, GDNF
31developmental disabilities10.1EDNRB, RET, BDNF
32neurofibromatosis10.0RET, GDNF
33intestinal obstruction10.0GDNF, EDNRB, EDN3, RET
34glaucoma10.0GDNF, EDNRB, RET, BDNF
35multiple endocrine neoplasia type 2a10.0GDNF, GFRA1, RET
36neonatal hypoxic and ischemic brain injury10.0BDNF, TH
37renal agenesis10.0GDNF, GFRA1, RET
38neuroendocrine carcinoma10.0ASCL1, GRP
39bipolar disorder10.0TH, BDNF
40rett syndrome10.0TH, BDNF
41chronic kidney failure10.0GRP, EDN3, GDNF
42lung small cell carcinoma10.0GRP, ASCL1, EDNRB, GDNF
43multiple endocrine neoplasia10.0RET, TH, GDNF
44teratocarcinoma10.0ASCL1, TH, GDNF
45toxic encephalopathy10.0BDNF, TH, GDNF
46mood disorder10.0GDNF, TH, BDNF
47prion disease10.0BDNF, TH, GDNF
48huntington's disease10.0BDNF, TH, GDNF
49multiple system atrophy10.0TH, GDNF
50wilms tumor10.0BDNF, TH, GDNF

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



Diseases related to central hypoventilation syndrome

Symptoms for Central Hypoventilation Syndrome

About this section
Sources:
48OMIM
See all sources


Clinical features from OMIM:

209880

Drugs & Therapeutics for Central Hypoventilation Syndrome

About this section
Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
See all sources

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

About this section

Anatomical Context for Central Hypoventilation Syndrome

About this section
Sources:
34MalaCards
See all sources

MalaCards organs/tissues related to Central Hypoventilation Syndrome:

34
Heart, Brain, Eye, Testes, Breast, Cerebellum, Ciliary ganglion

Animal Models for Central Hypoventilation Syndrome or affiliated genes

About this section
Sources:
38MGI
See all sources

MGI Mouse Phenotypes related to Central Hypoventilation Syndrome:

38 (show all 16)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00011869.1EDNRB, EDN3, ASCL1, EN1
2MP:00053919.0BDNF, PHOX2B, ASCL1, TH, EDNRB
3MP:00030128.9TH, ASCL1, RET, PHOX2A, BDNF
4MP:00053818.6GDNF, EDNRB, EDN3, TLX3, GFRA1, RET
5MP:00053888.3EDNRB, TH, TLX3, ASCL1, RET, PHOX2B
6MP:00028738.3TH, GFRA1, ASCL1, RET, EN1, PHOX2B
7MP:00053858.2GDNF, EDNRB, TH, RET, EN1, PHOX2B
8MP:00053877.9GDNF, EDNRB, TLX3, TLX1, GFRA1, RET
9MP:00107717.9EDNRB, EDN3, TH, TLX3, GFRA1, ASCL1
10MP:00053767.8EDNRB, TH, TLX3, RET, EN1, PHOX2B
11MP:00053807.7EDNRB, EDN3, TLX1, GFRA1, RET, UBC
12MP:00053787.3GDNF, EDNRB, TH, ASCL1, RET, UBC
13MP:00053866.9TLX3, TH, EDN3, EDNRB, GDNF, GFRA1
14MP:00053846.6GFRA1, TLX1, TH, EDNRB, GDNF, ASCL1
15MP:00036316.5BDNF, GDNF, EDNRB, EDN3, TH, TLX3
16MP:00107686.4TLX3, TH, EDN3, EDNRB, GDNF, GFRA1

Publications for Central Hypoventilation Syndrome

About this section
Sources:
53PubMed
See all sources

Articles related to Central Hypoventilation Syndrome:

(show top 50)    (show all 215)
idTitleAuthorsYear
1
Reversal of pulmonary hypertension after diaphragm pacing in an adult patient with congenital central hypoventilation syndrome. (23653299)
2013
2
Neurally adjusted ventilatory assist (NAVA) mode as an adjunct diagnostic tool in congenital central hypoventilation syndrome. (23374524)
2013
3
Peripheral chemoreceptors in congenital central hypoventilation syndrome. (23099221)
2013
4
Extreme intra-familial variability of congenital central hypoventilation syndrome: a case series. (23622117)
2013
5
Autonomic dysfunction of glucose homoeostasis in congenital central hypoventilation syndrome. (23231723)
2013
6
Inheritance of polyalanine expansion mutation of PHOX2B in congenital central hypoventilation syndrome. (22437207)
2012
7
Congenital central hypoventilation syndrome with PHOX2B gene mutation. (22674249)
2012
8
A reliable prognosis for congenital central hypoventilation syndrome should reflect a patient's genetic profile and management history. (23032508)
2012
9
A triple threat: Down syndrome, congenital central hypoventilation syndrome, and Hirschsprung disease. (23045564)
2012
10
The E3 ubiquitin ligase TRIM11 mediates the degradation of congenital central hypoventilation syndrome-associated polyalanine-expanded PHOX2B. (22307522)
2012
11
Congenital central hypoventilation syndrome in a full-term baby presenting with repeated extubation failure. (22348500)
2012
12
Congenital central hypoventilation syndrome and hypoglycaemia. (22103583)
2012
13
Low amounts of PHOX2B expanded alleles in asymptomatic parents suggest unsuspected recurrence risk in congenital central hypoventilation syndrome. (21336852)
2011
14
Vagal nerve stimulator placement for medically refractory seizures in a child treated with phrenic nerve pacing for congenital central hypoventilation syndrome. (21456915)
2011
15
Congenital central hypoventilation syndrome in children. (22018041)
2011
16
Congenital central hypoventilation syndrome: four families. (21076974)
2011
17
Congenital central hypoventilation syndrome: a case report. (21730909)
2011
18
Polyalanine expansion of PHOX2B in congenital central hypoventilation syndrome: rs17884724:A>C is associated with 7-alanine expansion. (19881470)
2010
19
A case of late-onset central hypoventilation syndrome with hypothalamic dysfunction: through a new phenotype. (20560260)
2010
20
An unusual presentation of congenital central hypoventilation syndrome (Ondine's Curse). (20304901)
2010
21
PHOX2B in respiratory control: lessons from congenital central hypoventilation syndrome and its mouse models. (19712905)
2009
22
Congenital central hypoventilation syndrome from past to future: model for translational and transitional autonomic medicine. (19422034)
2009
23
International Classification of Functioning, Disability and Health in children with congenital central hypoventilation syndrome. (19968527)
2009
24
PHOX2B germline and somatic mutations in late-onset central hypoventilation syndrome. (18079495)
2008
25
Sudden death in congenital central hypoventilation syndrome. (19009617)
2008
26
Concomitant existence of total bowel aganglionosis and congenital central hypoventilation syndrome in a neonate with PHOX2B gene mutation. (17270534)
2007
27
Congenital central hypoventilation syndrome. (17978458)
2007
28
De novo polyalanine expansion of PHOX2B in congenital central hypoventilation syndrome: unequal sister chromatid exchange during paternal gametogenesis. (17928950)
2007
29
Congenital central hypoventilation syndrome with PHOX2B gene mutation in a Taiwanese infant. (17282973)
2007
30
Case report of Haddad syndrome in a newborn: congenital central hypoventilation syndrome and Hirschsprung's disease. (16570083)
2006
31
Adult identified with congenital central hypoventilation syndrome--mutation in PHOX2b gene and late-onset CHS. (15615891)
2005
32
A novel 17 bp deletion in the PHOX2B gene causes congenital central hypoventilation syndrome with total aganglionosis of the small and large intestine. (16222683)
2005
33
Sudden infant death syndrome is not associated with the mutation of PHOX2B gene, a major causative gene of congenital central hypoventilation syndrome. (15185974)
2004
34
fMRI signal changes in response to forced expiratory loading in congenital central hypoventilation syndrome. (15258126)
2004
35
Genetics of congenital central hypoventilation syndrome: lessons from a seemingly orphan disease. (15105164)
2004
36
24-hour BP in children with congenital central hypoventilation syndrome. (14555571)
2003
37
Polyalanine expansion and frameshift mutations of the paired-like homeobox gene PHOX2B in congenital central hypoventilation syndrome. (12640453)
2003
38
Noradrenergic neuronal development is impaired by mutation of the proneural HASH-1 gene in congenital central hypoventilation syndrome (Ondine's curse). (14532329)
2003
39
Exclusion of RNX as a major gene in congenital central hypoventilation syndrome (CCHS, Ondine's curse). (12548735)
2003
40
Genetic segregation analysis of autonomic nervous system dysfunction in families of probands with idiopathic congenital central hypoventilation syndrome. (11343309)
2001
41
Congenital central hypoventilation syndrome and Hirschsprung's disease. (9623393)
1998
42
Congenital central hypoventilation syndrome: mutation analysis of the receptor tyrosine kinase RET. (8826440)
1996
43
Congenital central hypoventilation syndrome: cardiorespiratory responses to moderate exercise, simulating daily activity. (8570308)
1995
44
Central hypoventilation syndrome associated with ganglioneuroblastoma. (8555134)
1995
45
Daniel's story: congenital central hypoventilation syndrome. (8121351)
1993
46
Congenital Central Hypoventilation Syndrome (20301600)
1993
47
Congenital central hypoventilation syndrome: inheritance and relation to sudden infant death syndrome. (8135282)
1993
48
Hypercapnic and hypoxic ventilatory responses in parents and siblings of children with congenital central hypoventilation syndrome. (2064119)
1991
49
Hypercapneic arousal responses in children with congenital central hypoventilation syndrome. (1945641)
1991
50
Encephalitis associated with carcinoma. Central hypoventilation syndrome and cytoplasmic inclusion bodies. (4374509)
1974

Variations for Central Hypoventilation Syndrome

About this section
Sources:
65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 8dbSNP
See all sources

UniProtKB/Swiss-Prot genetic disease variations for Central Hypoventilation Syndrome:

65
id Symbol AA change Variation ID SNP ID
1BDNFp.Thr2IleVAR_018260rs8192466
2PHOX2Bp.Arg141GlnVAR_046900
3PHOX2Bp.Gln143ArgVAR_046901
4RETp.Arg67HisVAR_018153rs192489011
5RETp.Arg114HisVAR_018154
6RETp.Ala432GluVAR_018155
7RETp.Pro1039LeuVAR_018157rs79853121

Clinvar genetic disease variations for Central Hypoventilation Syndrome:

1
id Gene Name Type Significance SNP ID Assembly Location
1RETNM_020975.4(RET): c.341G> A (p.Arg114His)single nucleotide variantPathogenicrs76397662GRCh37Chr 10, 43597793: 43597793
2EDN3EDN3, 1-BP INSinsertionPathogenic
3NM_170731.4(BDNF): c.29C> T (p.Thr10Ile)single nucleotide variantPathogenicrs8192466GRCh37Chr 11, 27680107: 27680107
4ASCL1NM_004316.3(ASCL1): c.52C> A (p.Pro18Thr)single nucleotide variantPathogenicrs267606667GRCh37Chr 12, 103352074: 103352074
5ASCL1ASCL1, 15-BP DEL, NT111deletionPathogenic
6PHOX2BLRG_513p1: p.Ala260(5_9)NT expansionPathogenic
7PHOX2BNM_003924.3(PHOX2B): c.618dupC (p.Ser207Glnfs)duplicationPathogenicGRCh37Chr 4, 41748151: 41748151
8PHOX2BPHOX2B, 37-BP DEL, NT722deletionPathogenic
9GDNFNM_000514.3(GDNF): c.277C> T (p.Arg93Trp)single nucleotide variantPathogenic, risk factorrs36119840GRCh37Chr 5, 37816112: 37816112

Expression for genes affiliated with Central Hypoventilation Syndrome

About this section
Sources:
2BioGPS, 16Gene Expression Omnibus DataSets
See all sources
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

About this section
Sources:
51PathCards, 39NCBI BioSystems Database, 61Thomson Reuters, 54QIAGEN, 56Reactome, 31KEGG
See all sources

Compounds for genes affiliated with Central Hypoventilation Syndrome

About this section
Sources:
46Novoseek, 30IUPHAR, 12DrugBank, 62Tocris Bioscience, 25HMDB, 52PharmGKB
See all sources

Compounds related to Central Hypoventilation Syndrome according to GeneCards/GeneDecks:

(show top 50)    (show all 83)
idCompoundScoreTop Affiliating Genes
1bq6104610.3EDNRB, EDN3
2pd 1428934610.3EDNRB, EDN3
3bq 302046 3011.2EDNRB, EDN3
4irl 162046 3011.2EDNRB, EDN3
5fr13931746 3011.2EDNRB, EDN3
6sarafotoxin4610.2EDNRB, EDN3
7tezosentan4610.2EDNRB, EDN3
8propargylamine4610.2GDNF, BDNF
9bq78846 3011.1EDN3, EDNRB
10dopac4610.0BDNF, TH, GDNF
111 methyl 4 phenylpyridinium4610.0GDNF, TH, BDNF
12selegiline46 1211.0BDNF, TH, GDNF
136-hydroxydopamine4610.0GDNF, TH, BDNF
14mptp469.9GDNF, TH, BDNF
15dbc-amp469.9BDNF, EDN3, GDNF
163-nitropropionic acid469.9BDNF, TH
17catecholamine469.8BDNF, RET, TH, GDNF
18bq12346 3010.8EDN3, EDNRB
19melatonin46 30 62 25 1213.8GDNF, EDNRB, BDNF
20levodopa46 1210.8GDNF, EDN3, TH, BDNF
21phenylalanine469.7BDNF, RET, ASCL1, TH
22phosphoramidon46 1210.5GRP, EDN3, EDNRB
23capsaicin46 3010.4BDNF, GRP, GDNF
24amphetamine46 52 1211.4GDNF, TH, GRP
25aspartate469.2GDNF, EDNRB, EDN3, TH, RET, BDNF
26cocaine46 1210.2GDNF, TH, GRP, BDNF
27tetrodotoxin46 62 3011.2EDN3, TH, GRP, BDNF
28gaba469.1BDNF, GRP, TH, GDNF
29carbachol46 30 1211.1EDN3, TH, GRP, BDNF
30thapsigargin46 6210.1EDN3, TH, GRP, BDNF
31gnrh469.1BDNF, GRP, TH, EDN3
32ly294002469.1GDNF, TH, RET, BDNF
33indomethacin46 30 62 1212.1EDNRB, EDN3, GRP, BDNF
34nmda46 3010.0GDNF, TH, GRP, BDNF
35choline46 25 1211.0GDNF, TH, RET, GRP, BDNF
36wortmannin468.9BDNF, GRP, RET, GDNF
37histamine46 30 2510.9BDNF, GRP, TH, EDN3
38testosterone46 62 25 1211.8EDN3, TH, RET, GRP, BDNF
39acetylcholine46 52 30 25 1212.7GDNF, EDNRB, EDN3, TH, GRP, BDNF
40adenylate468.6GDNF, EDNRB, EDN3, TH, GRP, BDNF
41glutamate468.6GDNF, EDNRB, EDN3, TH, GRP, BDNF
42cyclic amp46 259.5GDNF, EDN3, TH, RET, GRP, PHOX2B
43phosphatidylinositol468.4GDNF, EDNRB, EDN3, GFRA1, RET, GRP
44alanine468.4GDNF, EDNRB, EDN3, TH, RET, GRP
45vegf468.4GDNF, EDNRB, EDN3, TH, RET, GRP
46retinoic acid46 259.4GDNF, EDNRB, TH, ASCL1, RET, GRP
47dexamethasone46 52 30 1211.4GDNF, EDNRB, EDN3, TH, GRP, UBC
48norepinephrine46 25 1210.1GDNF, EDNRB, EDN3, TH, GRP, PHOX2B
49dopamine46 30 25 1210.6BDNF, GDNF, EDN3, TH, GFRA1, ASCL1
50tyrosine466.8TLX1, TH, EDN3, EDNRB, GDNF, GFRA1

GO Terms for genes affiliated with Central Hypoventilation Syndrome

About this section
Sources:
17Gene Ontology
See all sources

Biological processes related to Central Hypoventilation Syndrome according to GeneCards/GeneDecks:

(show all 25)
idNameGO IDScoreTop Affiliating Genes
1noradrenergic neuron developmentGO:00335810.3PHOX2B, ASCL1
2posterior midgut developmentGO:00749710.3RET, EDNRB
3sympathetic ganglion developmentGO:06154910.3ASCL1, PHOX2B
4noradrenergic neuron differentiationGO:00335710.2PHOX2A, PHOX2B
5vein smooth muscle contractionGO:01482610.2EDN3, EDNRB
6dopaminergic neuron differentiationGO:07154210.2PHOX2B, PHOX2A
7response to painGO:04826510.1RET, EDNRB
8vasoconstrictionGO:04231010.1EDN3, EDNRB
9regulation of respiratory gaseous exchange by neurological system processGO:00208710.1PHOX2B, TLX3
10neuron fate specificationGO:04866510.0TLX3, ASCL1
11positive regulation of neuron differentiationGO:04566610.0BDNF, PHOX2B, ASCL1
12inner ear developmentGO:04883910.0BDNF, PHOX2B
13melanocyte differentiationGO:03031810.0EDNRB, EDN3
14negative regulation of neuron differentiationGO:0456659.9TLX3, ASCL1, PHOX2B
15ureteric bud developmentGO:0016579.9BDNF, RET
16enteric nervous system developmentGO:0484849.9PHOX2B, RET, EDNRB, GDNF
17neuron migrationGO:0017649.8PHOX2B, ASCL1, TLX3
18sympathetic nervous system developmentGO:0484859.8GDNF, ASCL1, PHOX2B, PHOX2A
19neural crest cell migrationGO:0017559.8RET, EDN3, EDNRB, GDNF
20cell surface receptor signaling pathwayGO:0071669.7GFRA1, EDN3, EDNRB
21pigmentationGO:0434739.6EN1, TH
22cerebral cortex developmentGO:0219879.5ASCL1, TH
23midbrain developmentGO:0309019.5PHOX2A, EN1
24negative regulation of apoptotic processGO:0430669.3GDNF, EDNRB, ASCL1, UBC
25positive regulation of transcription from RNA polymerase II promoterGO:0459448.2GDNF, TLX1, ASCL1, UBC, EN1, PHOX2B

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

idNameGO IDScoreTop Affiliating Genes
1RNA polymerase II regulatory region sequence-specific DNA bindingGO:0009779.9PHOX2A, PHOX2B
2receptor bindingGO:0051028.7GDNF, EDN3, GFRA1, GRP
3sequence-specific DNA bindingGO:0435658.4EN1, ASCL1, TLX1, TLX3
4sequence-specific DNA binding transcription factor activityGO:0037008.2PHOX2A, PHOX2B, EN1, ASCL1, TLX1, TLX3

Products for genes affiliated with Central Hypoventilation Syndrome

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Central Hypoventilation Syndrome

About this section
4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet