CCHS
MCID: CNG042
MIFTS: 63

Congenital Central Hypoventilation Syndrome (CCHS) malady

Genetic diseases, Rare diseases categories

Summaries for Congenital Central Hypoventilation Syndrome

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NIH Rare Diseases:42 Congenital central hypoventilation syndrome (cchs) is a disorder of the autonomic nervous system that causes individuals to hypoventilate (especially during sleep), resulting in a shortage of oxygen and a buildup of carbon dioxide in the blood. symptoms usually begin shortly after birth; affected infants hypoventilate upon falling asleep and exhibit a bluish appearance of the skin or lips (cyanosis). other features may include difficulty regulating heart rate and blood pressure; decreased perception of pain; low body temperature; occasional episodes of profuse sweating; hirschsprung disease; learning difficulties; eye abnormalities; and a characteristic appearance with a short, wide, somewhat flattened face. it is caused by mutations in the phox2b gene and is inherited in an autosomal dominant manner, but over 90 percent of cases result from new mutations and occur in people with no history of the disorder in their family. treatment typically includes mechanical ventilation or use of a diaphragm pacemaker. last updated: 5/28/2012

MalaCards based summary: Congenital Central Hypoventilation Syndrome, also known as congenital failure of autonomic control, is related to central hypoventilation syndrome and sudden infant death syndrome. An important gene associated with Congenital Central Hypoventilation Syndrome is ASCL1 (achaete-scute family bHLH transcription factor 1), and among its related pathways are Signaling events regulated by Ret tyrosine kinase and G protein signaling H RAS regulation pathway. The compounds propargylamine and bq610 have been mentioned in the context of this disorder. Affiliated tissues include heart, eye and skin, and related mouse phenotypes are pigmentation and respiratory system.

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

Description from OMIM:46 209880

GeneReviews summary for ondine

Aliases & Classifications for Congenital Central Hypoventilation Syndrome

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Congenital Central Hypoventilation Syndrome, Aliases & Descriptions:

Name: Congenital Central Hypoventilation Syndrome 20 42 21 23 22 61
Congenital Failure of Autonomic Control 42 22 61
Haddad Syndrome 22 46 61
Idiopathic Congenital Central Alveolar Hypoventilation 42 61
Central Hypoventilation Syndrome, Congenital 46 44
Congenital Central Hypoventilation 22 61
Primary Alveolar Hypoventilation 42 61
Ondine-Hirschsprung Disease 22 61
 
Ondine's Curse 42 61
Cchs 42 22
Sleep-Related Respiratory Failure 61
Congenital Ondine Curse 42
Sleep Apnea, Central 61
Ondine Syndrome 22
Ondine Curse 42


Classifications:

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


Related Diseases for Congenital Central Hypoventilation Syndrome

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Diseases in the Congenital Central Hypoventilation Syndrome family:

Central Hypoventilation Syndrome

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

(show top 50)    (show all 55)
idRelated DiseaseScoreTop Affiliating Genes
1central hypoventilation syndrome32.8GDNF
2sudden infant death syndrome31.2PHOX2B, EN1
3central hypoventilation syndrome, congenital, with or without hirschsprung disease31.2RET, PHOX2B, BDNF
4neuroblastoma30.9PHOX2B, BDNF
5hirschsprung's disease30.3GDNF, EDNRB, EDN3, GFRA1, RET, PHOX2B
6cerebritis10.5
7familial medullary thyroid carcinoma10.4GDNF
8sleep apnea10.4
9anterior spinal artery syndrome10.3
10renal dysplasia10.3RET, GDNF
1121-hydroxylase deficiency10.3
12neuroma10.3RET, GDNF
13multiple endocrine neoplasia10.3GDNF, RET
14western equine encephalitis10.2
15encephalitis10.2
16hypersomnia10.2
17hypertension10.2
18pulmonary hypertension10.2
19hyperinsulinism10.2
20down syndrome10.2
21obstructive sleep apnea10.2
22central sleep apnea10.2
23ganglioneuroma10.2
24neuronitis10.2
25esophagitis10.2
26hyperglycemia10.2
27rohhad10.2
28autonomic dysfunction10.2
29hypoxia10.2
30cor pulmonale10.2
31brain ischemia10.2BDNF, GDNF
32neurofibromatosis10.2GDNF, RET
33motor neuron disease10.2GDNF, BDNF
34developmental disabilities10.1BDNF, RET, EDNRB
35neuroendocrine carcinoma10.1GRP, ASCL1
36waardenburg syndrome type 410.1RET, EDN3, EDNRB
37carcinoid syndrome10.1GRP, RET, ASCL1
38waardenburg's syndrome10.1RET, EDN3, EDNRB
39paraganglioma10.0GRP, RET
40nodular hidradenoma10.0
41clear cell hidradenoma10.0
42hidradenoma10.0
43temporal lobe epilepsy10.0GDNF, BDNF
44multiple endocrine neoplasia type 2a10.0RET, GFRA1, GDNF
45renal agenesis9.9RET, GFRA1, GDNF
46intestinal obstruction9.9RET, EDN3, EDNRB, GDNF
47chronic kidney failure9.9GRP, EDN3, GDNF
48parkinson's disease9.8GDNF, GFRA1, BDNF
49lung small cell carcinoma9.8GDNF, EDNRB, ASCL1, GRP
50thyroid medullary carcinoma9.6GDNF, GFRA1, ASCL1, RET, GRP

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



Diseases related to congenital central hypoventilation syndrome

Symptoms for Congenital Central Hypoventilation Syndrome

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Clinical features from OMIM:

209880

Drugs & Therapeutics for Congenital Central Hypoventilation Syndrome

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Drug clinical trials:

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Search NIH Clinical Center for Congenital Central Hypoventilation Syndrome

Genetic Tests for Congenital Central Hypoventilation Syndrome

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Genetic tests related to Congenital Central Hypoventilation Syndrome:

id Genetic test Affiliating Genes
1 Congenital Central Hypoventilation Syndrome21 PHOX2B
2 Congenital Central Hypoventilation23

Anatomical Context for Congenital Central Hypoventilation Syndrome

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MalaCards organs/tissues related to Congenital Central Hypoventilation Syndrome:

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

Animal Models for Congenital Central Hypoventilation Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Congenital Central Hypoventilation Syndrome:

36 (show all 13)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00011869.0EDNRB, EDN3, ASCL1, EN1
2MP:00053888.6EDNRB, TLX3, ASCL1, RET, PHOX2B, PHOX2A
3MP:00053818.4GDNF, EDNRB, EDN3, TLX3, GFRA1, RET
4MP:00028738.4GFRA1, ASCL1, RET, EN1, PHOX2B, BDNF
5MP:00107718.0EDNRB, EDN3, TLX3, GFRA1, ASCL1, EN1
6MP:00053768.0TLX3, RET, EN1, PHOX2B, PHOX2A, BDNF
7MP:00053807.6EDNRB, EDN3, TLX1, GFRA1, RET, UBC
8MP:00053787.5GDNF, EDNRB, ASCL1, RET, UBC, EN1
9MP:00053877.4GDNF, EDNRB, TLX3, TLX1, GFRA1, RET
10MP:00053867.1TLX3, EDN3, EDNRB, GDNF, GFRA1, ASCL1
11MP:00053846.8GFRA1, TLX1, EDNRB, GDNF, ASCL1, RET
12MP:00036316.6BDNF, GDNF, EDNRB, EDN3, TLX3, TLX1
13MP:00107686.5GFRA1, TLX3, EDN3, EDNRB, GDNF, ASCL1

Publications for Congenital Central Hypoventilation Syndrome

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Articles related to Congenital Central Hypoventilation Syndrome:

(show top 50)    (show all 202)
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
Autonomic dysfunction of glucose homoeostasis in congenital central hypoventilation syndrome. (23231723)
2013
8
Inheritance of polyalanine expansion mutation of PHOX2B in congenital central hypoventilation syndrome. (22437207)
2012
9
Congenital central hypoventilation syndrome with PHOX2B gene mutation. (22674249)
2012
10
A reliable prognosis for congenital central hypoventilation syndrome should reflect a patient's genetic profile and management history. (23032508)
2012
11
A triple threat: Down syndrome, congenital central hypoventilation syndrome, and Hirschsprung disease. (23045564)
2012
12
The E3 ubiquitin ligase TRIM11 mediates the degradation of congenital central hypoventilation syndrome-associated polyalanine-expanded PHOX2B. (22307522)
2012
13
Congenital central hypoventilation syndrome in a full-term baby presenting with repeated extubation failure. (22348500)
2012
14
Congenital central hypoventilation syndrome and hypoglycaemia. (22103583)
2012
15
Low amounts of PHOX2B expanded alleles in asymptomatic parents suggest unsuspected recurrence risk in congenital central hypoventilation syndrome. (21336852)
2011
16
Vagal nerve stimulator placement for medically refractory seizures in a child treated with phrenic nerve pacing for congenital central hypoventilation syndrome. (21456915)
2011
17
Congenital central hypoventilation syndrome in children. (22018041)
2011
18
Congenital central hypoventilation syndrome: four families. (21076974)
2011
19
Congenital central hypoventilation syndrome: a case report. (21730909)
2011
20
Polyalanine expansion of PHOX2B in congenital central hypoventilation syndrome: rs17884724:A>C is associated with 7-alanine expansion. (19881470)
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
Hippocampal volume reduction in congenital central hypoventilation syndrome. (19649271)
2009
26
Sudden death in congenital central hypoventilation syndrome. (19009617)
2008
27
Concomitant existence of total bowel aganglionosis and congenital central hypoventilation syndrome in a neonate with PHOX2B gene mutation. (17270534)
2007
28
Congenital central hypoventilation syndrome. (17978458)
2007
29
De novo polyalanine expansion of PHOX2B in congenital central hypoventilation syndrome: unequal sister chromatid exchange during paternal gametogenesis. (17928950)
2007
30
Congenital central hypoventilation syndrome with PHOX2B gene mutation in a Taiwanese infant. (17282973)
2007
31
Case report of Haddad syndrome in a newborn: congenital central hypoventilation syndrome and Hirschsprung's disease. (16570083)
2006
32
Adult identified with congenital central hypoventilation syndrome--mutation in PHOX2b gene and late-onset CHS. (15615891)
2005
33
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
34
Sudden infant death syndrome is not associated with the mutation of PHOX2B gene, a major causative gene of congenital central hypoventilation syndrome. (15185974)
2004
35
fMRI signal changes in response to forced expiratory loading in congenital central hypoventilation syndrome. (15258126)
2004
36
Genetics of congenital central hypoventilation syndrome: lessons from a seemingly orphan disease. (15105164)
2004
37
24-hour BP in children with congenital central hypoventilation syndrome. (14555571)
2003
38
Polyalanine expansion and frameshift mutations of the paired-like homeobox gene PHOX2B in congenital central hypoventilation syndrome. (12640453)
2003
39
Noradrenergic neuronal development is impaired by mutation of the proneural HASH-1 gene in congenital central hypoventilation syndrome (Ondine's curse). (14532329)
2003
40
Exclusion of RNX as a major gene in congenital central hypoventilation syndrome (CCHS, Ondine's curse). (12548735)
2003
41
Genetic segregation analysis of autonomic nervous system dysfunction in families of probands with idiopathic congenital central hypoventilation syndrome. (11343309)
2001
42
Congenital central hypoventilation syndrome and Hirschsprung's disease. (9623393)
1998
43
Congenital central hypoventilation syndrome: mutation analysis of the receptor tyrosine kinase RET. (8826440)
1996
44
Congenital central hypoventilation syndrome (Ondine's curse syndrome) in two siblings: delayed diagnosis and successful noninvasive treatment. (8911900)
1996
45
Congenital central hypoventilation syndrome: cardiorespiratory responses to moderate exercise, simulating daily activity. (8570308)
1995
46
Daniel's story: congenital central hypoventilation syndrome. (8121351)
1993
47
Congenital Central Hypoventilation Syndrome (20301600)
1993
48
Congenital central hypoventilation syndrome: inheritance and relation to sudden infant death syndrome. (8135282)
1993
49
Hypercapnic and hypoxic ventilatory responses in parents and siblings of children with congenital central hypoventilation syndrome. (2064119)
1991
50
Hypercapneic arousal responses in children with congenital central hypoventilation syndrome. (1945641)
1991

Variations for Congenital Central Hypoventilation Syndrome

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

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Expression patterns in normal tissues for genes affiliated with Congenital Central Hypoventilation Syndrome

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

Pathways for genes affiliated with Congenital Central Hypoventilation Syndrome

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Compounds for genes affiliated with Congenital Central Hypoventilation Syndrome

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

(show top 50)    (show all 65)
idCompoundScoreTop Affiliating Genes
1propargylamine4410.3GDNF, BDNF
2bq6104410.3EDNRB, EDN3
3bq 302044 2911.3EDNRB, EDN3
4pd 1428934410.3EDNRB, EDN3
5fr13931744 2911.3EDNRB, EDN3
6irl 162044 2911.3EDNRB, EDN3
7tezosentan4410.3EDN3, EDNRB
8sarafotoxin4410.3EDNRB, EDN3
9bq78844 2911.2EDN3, EDNRB
10riluzole44 29 1212.2BDNF, GDNF
11bq12344 2911.2EDN3, EDNRB
12dopac4410.2GDNF, BDNF
13bosentan44 1211.1EDNRB, EDN3
14rasagiline44 1211.0BDNF, GDNF
15dbc-amp4410.0BDNF, GDNF, EDN3
16catecholamine4410.0BDNF, GDNF, RET
17levodopa44 1211.0GDNF, BDNF, EDN3
18melatonin44 29 60 25 1213.9BDNF, EDNRB, GDNF
191 methyl 4 phenylpyridinium449.8GDNF, BDNF
20bromodeoxyuridine449.7BDNF, GFRA1, GDNF
21potassium44 25 1211.6BDNF, EDN3, EDNRB, GDNF
22lysine449.6EDNRB, EDN3, BDNF, ASCL1
23heparan sulfate44 2510.6GDNF, GFRA1, RET
24tetrodotoxin44 60 2911.5EDN3, GRP, BDNF
25aspartate449.5RET, EDN3, EDNRB, GDNF, BDNF
26capsaicin44 2910.5GDNF, BDNF, GRP
27phosphoramidon44 1210.5GRP, EDN3, EDNRB
28nifedipine44 29 50 1212.4BDNF, GRP, EDN3
29carbachol44 29 1211.3EDN3, GRP, BDNF
30cocaine44 1210.3GRP, BDNF, GDNF
31choline44 25 1211.3RET, GDNF, GRP, BDNF
32wortmannin449.2GDNF, BDNF, GRP, RET
33inositol 1,4,5 trisphosphate449.2EDN3, GRP, BDNF
34indomethacin44 29 60 1212.2GRP, EDNRB, EDN3, BDNF
35phosphoinositide449.1BDNF, GRP, GDNF, EDN3
36acth449.1EDN3, GRP, BDNF
37acetylcholine44 50 29 25 1212.9EDNRB, GDNF, BDNF, GRP, EDN3
38adenylate448.9BDNF, GRP, EDN3, EDNRB, GDNF
39thapsigargin44 609.8EDN3, GRP, BDNF
40glutamate448.8GDNF, EDN3, GRP, EDNRB, BDNF
41cyclic amp44 259.7EDN3, BDNF, PHOX2B, GDNF, RET, GRP
42retinoic acid44 259.7BDNF, RET, GRP, GDNF, EDNRB, ASCL1
43vegf448.7GRP, EDNRB, BDNF, RET, EDN3, GDNF
44alanine448.6EDN3, RET, GRP, PHOX2B, GDNF, EDNRB
45dexamethasone44 50 29 1211.6GRP, GDNF, EDNRB, EDN3, UBC
46serine448.5GDNF, EDNRB, RET, EDN3, BDNF, GRP
47norepinephrine44 25 1210.3GDNF, EDNRB, EDN3, GRP, PHOX2A, BDNF
48phosphatidylinositol448.3RET, EDNRB, GDNF, EDN3, GFRA1, BDNF
49dopamine44 29 25 1210.8GRP, BDNF, PHOX2A, RET, ASCL1, GFRA1
50tyrosine447.0EDNRB, EDN3, TLX1, GFRA1, ASCL1, BDNF

GO Terms for genes affiliated with Congenital Central Hypoventilation Syndrome

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

(show all 24)
idNameGO IDScoreTop Affiliating Genes
1noradrenergic neuron developmentGO:00335810.3ASCL1, PHOX2B
2sympathetic ganglion developmentGO:06154910.2ASCL1, PHOX2B
3posterior midgut developmentGO:00749710.2RET, EDNRB
4vein smooth muscle contractionGO:01482610.2EDN3, EDNRB
5noradrenergic neuron differentiationGO:00335710.2PHOX2B, PHOX2A
6dopaminergic neuron differentiationGO:07154210.1PHOX2B, PHOX2A
7response to painGO:04826510.1RET, EDNRB
8vasoconstrictionGO:04231010.1EDN3, EDNRB
9neuron fate specificationGO:04866510.1TLX3, ASCL1
10regulation of respiratory gaseous exchange by neurological system processGO:00208710.0PHOX2B, TLX3
11positive regulation of neuron differentiationGO:04566610.0BDNF, PHOX2B, ASCL1
12melanocyte differentiationGO:0303189.9EDN3, EDNRB
13negative regulation of neuron differentiationGO:0456659.9TLX3, ASCL1, PHOX2B
14ureteric bud developmentGO:0016579.9BDNF, RET
15neuron migrationGO:0017649.8PHOX2B, ASCL1, TLX3
16sympathetic nervous system developmentGO:0484859.7GDNF, ASCL1, PHOX2B, PHOX2A
17neural crest cell migrationGO:0017559.7RET, EDN3, EDNRB, GDNF
18enteric nervous system developmentGO:0484849.7PHOX2B, RET, EDNRB, GDNF
19inner ear developmentGO:0488399.6BDNF, PHOX2B
20cell surface receptor signaling pathwayGO:0071669.6GFRA1, EDN3, EDNRB
21nervous system developmentGO:0073999.6BDNF, EDNRB, GDNF
22midbrain developmentGO:0309019.5EN1, PHOX2A
23negative regulation of apoptotic processGO:0430669.2GDNF, EDNRB, ASCL1, UBC
24positive regulation of transcription from RNA polymerase II promoterGO:0459448.1GDNF, TLX1, ASCL1, UBC, EN1, PHOX2B

Molecular functions related to Congenital 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:0051028.6GDNF, 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 Congenital Central Hypoventilation Syndrome

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Sources for Congenital Central Hypoventilation Syndrome

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4CDC
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26ICD10
27ICD10 via Orphanet
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