MCID: CNT048
MIFTS: 52

Central Hypoventilation Syndrome malady

Genetic diseases, Rare diseases categories

Summaries for Central Hypoventilation Syndrome

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

MalaCards based summary: Central Hypoventilation Syndrome is related to central hypoventilation syndrome, congenital, with or without hirschsprung disease and hirschsprung's 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 pd 142893 and bq610 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:46 209880

Aliases & Classifications for Central Hypoventilation Syndrome

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Central Hypoventilation Syndrome, Aliases & Descriptions:

Name: Central Hypoventilation Syndrome 46 61


Classifications:

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


Related Diseases for Central Hypoventilation Syndrome

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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 70)
idRelated DiseaseScoreTop Affiliating Genes
1central hypoventilation syndrome, congenital, with or without hirschsprung disease31.3BDNF, PHOX2B, RET
2hirschsprung's disease30.7GDNF, EDNRB, EDN3, GFRA1, RET, PHOX2B
3sudden infant death syndrome30.7TH, EN1, PHOX2B
4neuroblastoma30.6BDNF, PHOX2B, TH
5ganglioneuroma30.4RET, TH
6congenital central hypoventilation syndrome11.3
7familial medullary thyroid carcinoma10.5GDNF
8cerebritis10.4
9sleep apnea10.4
10renal dysplasia10.4GDNF, RET
11neuroma10.4RET, GDNF
12waardenburg syndrome type 410.3RET, EDN3, EDNRB
13rohhad10.3
14waardenburg's syndrome10.3RET, EDN3, EDNRB
15brain ischemia10.3BDNF, GDNF
16developmental disabilities10.3EDNRB, RET, BDNF
17neurofibromatosis10.2RET, GDNF
18intestinal obstruction10.2GDNF, EDNRB, EDN3, RET
19hypertension10.2
20pulmonary hypertension10.2
21hyperinsulinism10.2
22down syndrome10.2
23obstructive sleep apnea10.2
24central sleep apnea10.2
25neuronitis10.2
26encephalitis10.2
27esophagitis10.2
28ganglioneuroblastoma10.2
29hyperglycemia10.2
30influenza10.2
31learning disability10.2
32meningitis10.2
33haemophilus influenzae10.2
34autonomic dysfunction10.2
35hypoxia10.2
36cor pulmonale10.2
37neonatal hypoxic and ischemic brain injury10.2BDNF, TH
38multiple endocrine neoplasia type 2a10.2GDNF, GFRA1, RET
39renal agenesis10.1GDNF, GFRA1, RET
40neuroendocrine carcinoma10.1ASCL1, GRP
41bipolar disorder10.1TH, BDNF
42rett syndrome10.1TH, BDNF
43chronic kidney failure10.1GRP, EDN3, GDNF
44lung small cell carcinoma10.1GRP, ASCL1, EDNRB, GDNF
45multiple endocrine neoplasia10.1RET, TH, GDNF
46teratocarcinoma10.1ASCL1, TH, GDNF
47toxic encephalopathy10.0BDNF, TH, GDNF
48mood disorder10.0GDNF, TH, BDNF
49prion disease10.0BDNF, TH, GDNF
50huntington's disease10.0BDNF, 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

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Clinical features from OMIM:

209880

Drugs & Therapeutics for Central Hypoventilation Syndrome

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Drug clinical trials:

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Search NIH Clinical Center for Central Hypoventilation Syndrome

Genetic Tests for Central Hypoventilation Syndrome

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Anatomical Context for Central Hypoventilation Syndrome

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MalaCards organs/tissues related to Central Hypoventilation Syndrome:

32
Heart, Brain, Eye, Cerebellum, Breast, Testes, Ciliary ganglion

Animal Models for Central Hypoventilation Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Central Hypoventilation Syndrome:

36 (show all 16)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00011869.2EDNRB, 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:00107717.9EDNRB, EDN3, TH, TLX3, GFRA1, ASCL1
9MP:00053877.9GDNF, EDNRB, TLX3, TLX1, GFRA1, RET
10MP:00053767.7EDNRB, 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

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Articles related to Central Hypoventilation Syndrome:

(show top 50)    (show all 221)
idTitleAuthorsYear
1
Congenital central hypoventilation syndrome and carbon dioxide sensitivity. (25319843)
2014
2
A case of congenital central hypoventilation syndrome with a novel mutation of the PHOX2B gene presenting as central sleep apnea. (24634632)
2014
3
Reversal of pulmonary hypertension after diaphragm pacing in an adult patient with congenital central hypoventilation syndrome. (23653299)
2013
4
Neurally adjusted ventilatory assist (NAVA) mode as an adjunct diagnostic tool in congenital central hypoventilation syndrome. (23374524)
2013
5
Peripheral chemoreceptors in congenital central hypoventilation syndrome. (23099221)
2013
6
Extreme intra-familial variability of congenital central hypoventilation syndrome: a case series. (23622117)
2013
7
Inheritance of polyalanine expansion mutation of PHOX2B in congenital central hypoventilation syndrome. (22437207)
2012
8
Congenital central hypoventilation syndrome with PHOX2B gene mutation. (22674249)
2012
9
A reliable prognosis for congenital central hypoventilation syndrome should reflect a patient's genetic profile and management history. (23032508)
2012
10
A triple threat: Down syndrome, congenital central hypoventilation syndrome, and Hirschsprung disease. (23045564)
2012
11
The E3 ubiquitin ligase TRIM11 mediates the degradation of congenital central hypoventilation syndrome-associated polyalanine-expanded PHOX2B. (22307522)
2012
12
Congenital central hypoventilation syndrome in a full-term baby presenting with repeated extubation failure. (22348500)
2012
13
Congenital central hypoventilation syndrome and hypoglycaemia. (22103583)
2012
14
Low amounts of PHOX2B expanded alleles in asymptomatic parents suggest unsuspected recurrence risk in congenital central hypoventilation syndrome. (21336852)
2011
15
Vagal nerve stimulator placement for medically refractory seizures in a child treated with phrenic nerve pacing for congenital central hypoventilation syndrome. (21456915)
2011
16
Congenital central hypoventilation syndrome in children. (22018041)
2011
17
Congenital central hypoventilation syndrome: four families. (21076974)
2011
18
Congenital central hypoventilation syndrome: a case report. (21730909)
2011
19
Polyalanine expansion of PHOX2B in congenital central hypoventilation syndrome: rs17884724:A>C is associated with 7-alanine expansion. (19881470)
2010
20
A case of late-onset central hypoventilation syndrome with hypothalamic dysfunction: through a new phenotype. (20560260)
2010
21
An unusual presentation of congenital central hypoventilation syndrome (Ondine's Curse). (20304901)
2010
22
PHOX2B in respiratory control: lessons from congenital central hypoventilation syndrome and its mouse models. (19712905)
2009
23
Congenital central hypoventilation syndrome from past to future: model for translational and transitional autonomic medicine. (19422034)
2009
24
International Classification of Functioning, Disability and Health in children with congenital central hypoventilation syndrome. (19968527)
2009
25
PHOX2B germline and somatic mutations in late-onset central hypoventilation syndrome. (18079495)
2008
26
A novel missense mutation in the PHOX2B gene is associated with late onset central hypoventilation syndrome. (18785257)
2008
27
Sudden death in congenital central hypoventilation syndrome. (19009617)
2008
28
Concomitant existence of total bowel aganglionosis and congenital central hypoventilation syndrome in a neonate with PHOX2B gene mutation. (17270534)
2007
29
Congenital central hypoventilation syndrome. (17978458)
2007
30
De novo polyalanine expansion of PHOX2B in congenital central hypoventilation syndrome: unequal sister chromatid exchange during paternal gametogenesis. (17928950)
2007
31
Congenital central hypoventilation syndrome with PHOX2B gene mutation in a Taiwanese infant. (17282973)
2007
32
Case report of Haddad syndrome in a newborn: congenital central hypoventilation syndrome and Hirschsprung's disease. (16570083)
2006
33
Adult identified with congenital central hypoventilation syndrome--mutation in PHOX2b gene and late-onset CHS. (15615891)
2005
34
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
35
Sudden infant death syndrome is not associated with the mutation of PHOX2B gene, a major causative gene of congenital central hypoventilation syndrome. (15185974)
2004
36
fMRI signal changes in response to forced expiratory loading in congenital central hypoventilation syndrome. (15258126)
2004
37
Genetics of congenital central hypoventilation syndrome: lessons from a seemingly orphan disease. (15105164)
2004
38
24-hour BP in children with congenital central hypoventilation syndrome. (14555571)
2003
39
Polyalanine expansion and frameshift mutations of the paired-like homeobox gene PHOX2B in congenital central hypoventilation syndrome. (12640453)
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

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

63
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:

7
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

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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

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Compounds for genes affiliated with Central Hypoventilation Syndrome

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

(show top 50)    (show all 83)
idCompoundScoreTop Affiliating Genes
1pd 1428934410.3EDN3, EDNRB
2bq6104410.3EDN3, EDNRB
3bq 302044 2911.3EDNRB, EDN3
4sarafotoxin4410.2EDN3, EDNRB
5tezosentan4410.2EDN3, EDNRB
6fr13931744 2911.2EDNRB, EDN3
7irl 162044 2911.2EDNRB, EDN3
8bq78844 2911.1EDNRB, EDN3
9propargylamine4410.1GDNF, BDNF
10dopac4410.0GDNF, BDNF, TH
111 methyl 4 phenylpyridinium4410.0BDNF, GDNF, TH
12selegiline44 1211.0TH, BDNF, GDNF
136-hydroxydopamine449.9TH, GDNF, BDNF
14mptp449.9GDNF, TH, BDNF
15dbc-amp449.9EDN3, GDNF, BDNF
163-nitropropionic acid449.8TH, BDNF
17bq12344 2910.8EDN3, EDNRB
18catecholamine449.8RET, GDNF, TH, BDNF
19levodopa44 1210.7EDN3, GDNF, TH, BDNF
20melatonin44 29 60 25 1213.7BDNF, EDNRB, GDNF
21phenylalanine449.7ASCL1, TH, RET, BDNF
22phosphoramidon44 1210.5GRP, EDNRB, EDN3
23capsaicin44 2910.4GDNF, BDNF, GRP
24amphetamine44 50 1211.4GRP, TH, GDNF
25aspartate449.2BDNF, RET, EDN3, EDNRB, GDNF, TH
26cocaine44 1210.2TH, GRP, BDNF, GDNF
27tetrodotoxin44 60 2911.2TH, GRP, BDNF, EDN3
28carbachol44 29 1211.1TH, BDNF, GRP, EDN3
29thapsigargin44 6010.1TH, EDN3, GRP, BDNF
30gaba449.1TH, BDNF, GRP, GDNF
31gnrh449.1EDN3, BDNF, GRP, TH
32ly294002449.0RET, TH, GDNF, BDNF
33indomethacin44 29 60 1212.0GRP, EDN3, BDNF, EDNRB
34nmda44 2910.0GRP, TH, GDNF, BDNF
35choline44 25 1211.0RET, BDNF, GRP, TH, GDNF
36wortmannin448.9GDNF, RET, GRP, BDNF
37histamine44 29 2510.8TH, GRP, BDNF, EDN3
38testosterone44 60 25 1211.7GRP, RET, TH, BDNF, EDN3
39acetylcholine44 50 29 25 1212.7EDN3, GDNF, TH, EDNRB, BDNF, GRP
40adenylate448.6EDNRB, EDN3, GRP, TH, BDNF, GDNF
41glutamate448.6EDN3, TH, GRP, EDNRB, GDNF, BDNF
42cyclic amp44 259.5GRP, EDN3, TH, GDNF, RET, PHOX2B
43alanine448.4GRP, RET, TH, EDNRB, GDNF, EDN3
44phosphatidylinositol448.4BDNF, EDNRB, GRP, RET, GFRA1, EDN3
45retinoic acid44 259.4BDNF, RET, TH, EDNRB, GDNF, GRP
46vegf448.4EDNRB, EDN3, TH, RET, GRP, BDNF
47dexamethasone44 50 29 1211.4GDNF, EDNRB, EDN3, TH, GRP, UBC
48norepinephrine44 25 1210.1GDNF, TH, GRP, PHOX2B, PHOX2A, EDN3
49dopamine44 29 25 1210.6GFRA1, BDNF, PHOX2A, PHOX2B, GRP, RET
50tyrosine446.8GDNF, EDNRB, TH, TLX1, GFRA1, GRP

GO Terms for genes affiliated with Central Hypoventilation Syndrome

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

(show all 25)
idNameGO IDScoreTop Affiliating Genes
1noradrenergic neuron developmentGO:00335810.3PHOX2B, ASCL1
2sympathetic ganglion developmentGO:06154910.3ASCL1, PHOX2B
3posterior midgut developmentGO:00749710.3RET, EDNRB
4vein smooth muscle contractionGO:01482610.2EDN3, EDNRB
5noradrenergic neuron differentiationGO:00335710.2PHOX2A, PHOX2B
6dopaminergic neuron differentiationGO:07154210.2PHOX2B, PHOX2A
7vasoconstrictionGO:04231010.1EDN3, EDNRB
8response to painGO:04826510.1RET, EDNRB
9regulation of respiratory gaseous exchange by neurological system processGO:00208710.1PHOX2B, TLX3
10neuron fate specificationGO:04866510.1TLX3, ASCL1
11positive regulation of neuron differentiationGO:04566610.0BDNF, PHOX2B, ASCL1
12melanocyte differentiationGO:03031810.0EDNRB, EDN3
13inner ear developmentGO:04883910.0BDNF, PHOX2B
14negative regulation of neuron differentiationGO:0456659.9TLX3, ASCL1, PHOX2B
15neuron migrationGO:0017649.9PHOX2B, ASCL1, TLX3
16ureteric bud developmentGO:0016579.8BDNF, RET
17enteric nervous system developmentGO:0484849.8PHOX2B, RET, EDNRB, GDNF
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:0219879.6ASCL1, TH
23midbrain developmentGO:0309019.5PHOX2A, EN1
24negative regulation of apoptotic processGO:0430669.4GDNF, 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:0435658.5EN1, 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

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Sources for Central Hypoventilation Syndrome

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
29IUPHAR
30KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet