CCHS
MCID: CNG042
MIFTS: 65

Congenital Central Hypoventilation Syndrome (CCHS) malady

Genetic diseases, Rare diseases categories
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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 central hypoventilation syndrome, congenital, with or without hirschsprung disease. An important gene associated with Congenital Central Hypoventilation Syndrome is ASCL1 (achaete-scute family bHLH transcription factor 1), and among its related pathways are Fanconi anemia pathway and G protein signaling H RAS regulation pathway. The compounds bq 3020 and bq610 have been mentioned in the context of this disorder. Affiliated tissues include heart, eye and skin, and related mouse phenotypes are muscle and pigmentation.

Wikipedia:65 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 19 42 20 22 21 62
Congenital Failure of Autonomic Control 42 21 62
Haddad Syndrome 21 46 62
Idiopathic Congenital Central Alveolar Hypoventilation 42 62
Central Hypoventilation Syndrome, Congenital 46 44
Congenital Central Hypoventilation 21 62
Primary Alveolar Hypoventilation 42 62
Ondine-Hirschsprung Disease 21 62
 
Ondine's Curse 42 62
Cchs 42 21
Sleep-Related Respiratory Failure 62
Congenital Ondine Curse 42
Sleep Apnea, Central 62
Ondine Syndrome 21
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 61)
idRelated DiseaseScoreTop Affiliating Genes
1central hypoventilation syndrome32.8GDNF
2central hypoventilation syndrome, congenital, with or without hirschsprung disease31.2PHOX2B, RET, BDNF
3sudden infant death syndrome31.2PHOX2B, EN1
4neuroblastoma31.0PHOX2B, BDNF
5hirschsprung's disease30.5RET, PHOX2B, EDN3, EDNRB, GDNF, GFRA1
6cerebritis10.5
7familial medullary thyroid carcinoma10.4GDNF
8sleep apnea10.4
9peritoneal carcinoma10.4BRCA1
10renal dysplasia10.3GDNF, RET
11neuroma10.3GDNF, RET
12anterior spinal artery syndrome10.3
13multiple endocrine neoplasia10.3GDNF, RET
1421-hydroxylase deficiency10.3
15familial colorectal cancer10.3BRCA1, RET
16autosomal dominant disease10.2BRCA1, RET
17cowden disease10.2BRCA1, RET
18western equine encephalitis10.2
19encephalitis10.2
20hypersomnia10.2
21hypertension10.2
22pulmonary hypertension10.2
23hyperinsulinism10.2
24down syndrome10.2
25obstructive sleep apnea10.2
26central sleep apnea10.2
27ganglioneuroma10.2
28neuronitis10.2
29esophagitis10.2
30hyperglycemia10.2
31rohhad10.2
32autonomic dysfunction10.2
33hypoxia10.2
34cor pulmonale10.2
35brain ischemia10.2GDNF, BDNF
36developmental disabilities10.2RET, EDNRB, BDNF
37carcinoid syndrome10.2ASCL1, RET, GRP
38waardenburg syndrome type 410.2EDNRB, RET, EDN3
39waardenburg's syndrome10.2RET, EDN3, EDNRB
40neuroendocrine carcinoma10.1GRP, ASCL1
41paraganglioma10.1GRP, RET
42multiple endocrine neoplasia type 2a10.1GDNF, GFRA1, RET
43renal agenesis10.1GFRA1, RET, GDNF
44neurofibromatosis10.1RET, GDNF
45nodular hidradenoma10.0
46clear cell hidradenoma10.0
47hidradenoma10.0
48intestinal obstruction10.0EDNRB, GDNF, EDN3, RET
49chronic kidney failure10.0GRP, EDN3, GDNF
50lung small cell carcinoma9.9GRP, ASCL1, EDNRB, GDNF

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 Syndrome20 PHOX2B
2 Congenital Central Hypoventilation22

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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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:

64 (show all 14)
id Symbol AA change Variation ID SNP ID
1BDNFp.Thr2IleVAR_018260rs8192466
2BDNFp.Thr2IleVAR_018260rs8192466
3PHOX2Bp.Arg141GlnVAR_046900
4PHOX2Bp.Arg141GlnVAR_046900
5PHOX2Bp.Gln143ArgVAR_046901
6PHOX2Bp.Gln143ArgVAR_046901
7RETp.Arg67HisVAR_018153rs192489011
8RETp.Arg67HisVAR_018153rs192489011
9RETp.Arg114HisVAR_018154
10RETp.Arg114HisVAR_018154
11RETp.Ala432GluVAR_018155
12RETp.Ala432GluVAR_018155
13RETp.Pro1039LeuVAR_018157rs79853121
14RETp.Pro1039LeuVAR_018157rs79853121

Clinvar genetic disease variations for Congenital Central Hypoventilation Syndrome:

6
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 variantPathogenicrs36119840GRCh37Chr 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 69)
idCompoundScoreTop Affiliating Genes
1bq 302044 2811.3EDNRB, EDN3
2bq6104410.3EDNRB, EDN3
3pd 1428934410.3EDN3, EDNRB
4propargylamine4410.3GDNF, BDNF
5sarafotoxin4410.3EDN3, EDNRB
6fr13931744 2811.3EDN3, EDNRB
7tezosentan4410.3EDN3, EDNRB
8irl 162044 2811.3EDNRB, EDN3
9bq78844 2811.2EDNRB, EDN3
10bq12344 2811.2EDN3, EDNRB
11riluzole44 28 1112.1GDNF, BDNF
12bosentan44 1111.0EDNRB, EDN3
13dbc-amp4410.0GDNF, EDN3, BDNF
14levodopa44 1111.0GDNF, BDNF, EDN3
15catecholamine4410.0GDNF, RET, BDNF
16dopac4410.0BDNF, GDNF
17melatonin44 28 61 24 1113.9BDNF, GDNF, EDNRB
18methionine449.8BDNF, BRCA1, RET, EDN3
19potassium44 24 1111.6EDNRB, EDN3, BDNF, GDNF
20aspartate449.5GDNF, EDNRB, EDN3, RET, BDNF
21lysine449.5BDNF, ASCL1, BRCA1, EDNRB, EDN3
22tetrodotoxin44 61 2811.5BDNF, EDN3, GRP
23capsaicin44 2810.5GDNF, GRP, BDNF
24phosphoramidon44 1110.5GRP, EDN3, EDNRB
25choline44 24 1111.3GDNF, RET, GRP, BDNF
26oligonucleotide449.3TLX1, BRCA1, RET, EDN3, GDNF
27agar449.3RET, BDNF, GRP, BRCA1
28indomethacin44 28 61 1112.2EDN3, BDNF, GRP, EDNRB
29guanine44 24 1111.2EDNRB, GRP, BRCA1, EDN3
30wortmannin449.2BDNF, RET, GDNF, GRP
31cocaine44 1110.1GDNF, BDNF, GRP
32phosphoinositide449.1GRP, BDNF, EDN3, GDNF
33nifedipine44 28 50 1112.1EDN3, GRP, BDNF
34testosterone44 61 24 1112.0BRCA1, EDN3, BDNF, RET, GRP
35acetylcholine44 50 28 24 1113.0BDNF, GRP, EDN3, GDNF, EDNRB
36genistein44 28 61 2 24 1114.0BRCA1, GRP, GDNF, RET
37adenylate448.9GDNF, BDNF, GRP, EDN3, EDNRB
38cyclic amp44 249.8PHOX2B, BDNF, GDNF, EDN3, RET, GRP
39camptothecin44 61 1110.8BDNF, GRP, BRCA1
40glutamate448.8EDN3, GRP, GDNF, BDNF, EDNRB
41dexamethasone44 50 28 1111.6GDNF, UBC, GRP, EDN3, EDNRB
42retinoic acid44 249.5EDNRB, BRCA1, ASCL1, RET, GRP, BDNF
43vegf448.4GRP, RET, GDNF, EDNRB, EDN3, BDNF
44alanine448.4GDNF, EDN3, EDNRB, PHOX2B, GRP, RET
45serine448.4GDNF, EDNRB, EDN3, RET, GRP, BDNF
46norepinephrine44 24 1110.4PHOX2A, EDNRB, GRP, PHOX2B, BDNF, GDNF
47phosphatidylinositol448.1EDN3, GRP, BRCA1, RET, EDNRB, BDNF
48calcium44 50 24 1111.1EDN3, BRCA1, GDNF, RET, GRP, BDNF
49dopamine44 28 24 1110.9GRP, PHOX2B, ASCL1, GFRA1, EDN3, GDNF
50tyrosine446.8EDN3, ASCL1, BRCA1, GFRA1, TLX1, GDNF

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 23)
idNameGO IDScoreTop Affiliating Genes
1noradrenergic neuron developmentGO:00335810.3PHOX2B, ASCL1
2sympathetic ganglion developmentGO:06154910.3PHOX2B, ASCL1
3posterior midgut developmentGO:00749710.2RET, EDNRB
4vein smooth muscle contractionGO:01482610.2EDN3, EDNRB
5noradrenergic neuron differentiationGO:00335710.2PHOX2A, PHOX2B
6dopaminergic neuron differentiationGO:07154210.1PHOX2A, PHOX2B
7response to painGO:04826510.1EDNRB, RET
8neuron fate specificationGO:04866510.1ASCL1, TLX3
9regulation of respiratory gaseous exchange by neurological system processGO:00208710.0TLX3, PHOX2B
10positive regulation of neuron differentiationGO:04566610.0ASCL1, PHOX2B, BDNF
11vasoconstrictionGO:04231010.0EDNRB, EDN3
12inner ear developmentGO:04883910.0BDNF, PHOX2B
13negative regulation of neuron differentiationGO:0456659.9TLX3, ASCL1, PHOX2B
14melanocyte differentiationGO:0303189.9EDN3, EDNRB
15neuron migrationGO:0017649.8PHOX2B, ASCL1, TLX3
16sympathetic nervous system developmentGO:0484859.7GDNF, ASCL1, PHOX2B, PHOX2A
17enteric nervous system developmentGO:0484849.7PHOX2B, RET, EDNRB, GDNF
18ureteric bud developmentGO:0016579.7BDNF, RET
19neural crest cell migrationGO:0017559.7GDNF, EDNRB, EDN3, RET
20cell surface receptor signaling pathwayGO:0071669.6EDNRB, EDN3, GFRA1
21midbrain developmentGO:0309019.4PHOX2A, EN1
22negative regulation of apoptotic processGO:0430669.2UBC, ASCL1, EDNRB, GDNF
23positive regulation of transcription from RNA polymerase II promoterGO:0459447.8GDNF, TLX1, BRCA1, ASCL1, UBC, EN1

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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3CDC
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25ICD10
26ICD10 via Orphanet
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