CCHS
MCID: CNG042
MIFTS: 61

Congenital Central Hypoventilation Syndrome (CCHS) malady

Summaries for Congenital Central Hypoventilation Syndrome

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42NIH Rare Diseases, 63Wikipedia, 46OMIM, 19GeneReviews, 32MalaCards
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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: Congenital Central Hypoventilation Syndrome, also known as haddad syndrome, is related to hirschsprung's disease and sudden infant death syndrome. An important gene associated with Congenital Central Hypoventilation Syndrome is ASCL1 (achaete-scute complex homolog 1 (Drosophila)), 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 pd 142893 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:63 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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19GeneReviews, 42NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 46OMIM, 44Novoseek, 60UMLS
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Aliases & Descriptions:

congenital central hypoventilation syndrome 19 42 20 22 21
haddad syndrome 21 46 60
central hypoventilation syndrome, congenital 46 44
congenital failure of autonomic control 42 21
congenital central hypoventilation 21 60
ondine-hirschsprung disease 21 60
cchs 42 21
idiopathic congenital central alveolar hypoventilation 42
sleep-related respiratory failure 60
congenital ondine curse 42
sleep apnea, central 60
ondine syndrome 21
ondine curse 42


Related Diseases for Congenital Central Hypoventilation Syndrome

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17GeneCards, 18GeneDecks
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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 59)
idRelated DiseaseScoreTop Affiliating Genes
1hirschsprung's disease30.9PHOX2B, EDN3, GDNF, RET, GFRA1, EDNRB
2sudden infant death syndrome30.7EN1, PHOX2B
3central hypoventilation syndrome, congenital, with or without hirschsprung disease30.6PHOX2B, RET, BDNF
4neuroblastoma30.3BDNF, PHOX2B
5central hypoventilation syndrome30.3GDNF
6hypertension30.3EDNRB
7adult syndrome10.5
8cerebritis10.3
9image syndrome10.3
1021-hydroxylase deficiency10.2
11anterior spinal artery syndrome10.2
12central sleep apnea10.2
13neuronitis10.2
14hyperinsulinism10.2
15down syndrome10.2
16ganglioneuroma10.2
17esophagitis10.2
18hyperglycemia10.2
19congenital fiber-type disproportion10.2
20rohhad10.2
21central nervous system teratoma10.1
22phaeochromocytoma10.0RET
23astrocytoma10.0GDNF
24exotropia10.0PHOX2A
25thyroid cancer10.0RET
26familial medullary thyroid carcinoma10.0GDNF
27neuroepithelioma10.0GRP
28motor neuron disease10.0BDNF, GDNF
29pituitary adenoma10.0GDNF, RET
30wilms tumor10.0BDNF, GDNF
31multiple endocrine neoplasia10.0RET, GDNF
32mental retardation10.0BDNF, GDNF
33paraganglioma10.0RET, GRP
34alzheimer's disease10.0GDNF, BDNF
35developmental disabilities10.0BDNF, EDNRB, RET
36waardenburg syndrome type 410.0RET, EDNRB, EDN3
37waardenburg's syndrome10.0EDNRB, RET, EDN3
38amyotrophic lateral sclerosis10.0BDNF, GDNF
39schizophrenia10.0GDNF, BDNF
40clear cell hidradenoma10.0
41nodular hidradenoma10.0
42hidradenoma10.0
43carcinoid syndrome10.0GRP, RET, ASCL1
44glioblastoma multiforme10.0GDNF, GRP
45lung cancer10.0GRP, ASCL1
46glaucoma10.0EDNRB, GDNF, RET, BDNF
47multiple endocrine neoplasia type 2a10.0GFRA1, RET, GDNF
48intestinal obstruction10.0EDN3, EDNRB, GDNF, RET
49renal agenesis10.0RET, GDNF, GFRA1
50parkinson's disease10.0UBC, BDNF, EN1, GDNF

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



Diseases related to congenital central hypoventilation syndrome

Clinical Features for Congenital Central Hypoventilation Syndrome

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46OMIM
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Clinical features from OMIM:

209880

Drugs & Therapeutics for Congenital Central Hypoventilation Syndrome

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Congenital Central Hypoventilation Syndrome

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20GeneTests, 22GTR
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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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32MalaCards
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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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36MGI
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MGI Mouse Phenotypes related to Congenital Central Hypoventilation Syndrome:

36 (show all 11)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00011868.7EDNRB, EDN3, EN1, ASCL1
2MP:00053888.5BDNF, TLX3, PHOX2A, PHOX2B, EDNRB, RET
3MP:00028738.5ASCL1, EN1, GFRA1, RET, PHOX2B, BDNF
4MP:00053818.3BDNF, TLX3, EDNRB, EDN3, GDNF, RET
5MP:00107718.0BDNF, TLX3, EDNRB, EDN3, GFRA1, EN1
6MP:00053807.5TLX1, UBC, PHOX2B, EDNRB, EDN3, RET
7MP:00053787.3BDNF, UBC, PHOX2A, PHOX2B, EDNRB, GDNF
8MP:00053867.0PHOX2B, PHOX2A, TLX3, BDNF, EDNRB, EDN3
9MP:00053846.7BDNF, TLX1, UBC, PHOX2A, PHOX2B, EDNRB
10MP:00036316.6ASCL1, BDNF, TLX3, TLX1, PHOX2A, PHOX2B
11MP:00107686.5PHOX2B, PHOX2A, UBC, TLX3, BDNF, EDNRB

Publications for Congenital Central Hypoventilation Syndrome

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50PubMed
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Articles related to Congenital Central Hypoventilation Syndrome:

(show top 50)    (show all 201)
idTitleAuthorsYear
1
Extreme intra-familial variability of congenital central hypoventilation syndrome: a case series. (23622117)
2013
2
Autonomic dysfunction of glucose homoeostasis in congenital central hypoventilation syndrome. (23231723)
2013
3
Congenital central hypoventilation syndrome with PHOX2B gene mutation: are we missing the diagnosis? (22829249)
2013
4
A new device for the care of Congenital Central Hypoventilation Syndrome patients during sleep. (24110221)
2013
5
The E3 ubiquitin ligase TRIM11 mediates the degradation of congenital central hypoventilation syndrome-associated polyalanine-expanded PHOX2B. (22307522)
2012
6
Germline mosaicism of PHOX2B mutation accounts for familial recurrence of congenital central hypoventilation syndrome (CCHS). (22821709)
2012
7
Pupillometry in congenital central hypoventilation syndrome (CCHS): quantitative evidence of autonomic nervous system dysregulation. (22278185)
2012
8
Epidemiologic survey of patients with congenital central hypoventilation syndrome in Japan. (21958325)
2012
9
Low amounts of PHOX2B expanded alleles in asymptomatic parents suggest unsuspected recurrence risk in congenital central hypoventilation syndrome. (21336852)
2011
10
Presentation and treatment of monozygotic twins with congenital central hypoventilation syndrome. (21499593)
2011
11
Late onset congenital central hypoventilation syndrome after exposure to general anesthesia. (21989548)
2011
12
Congenital central hypoventilation syndrome and desogestrel: a call for caution: addendum to "C. Straus, H. Trang, M.H. Becquemin, P. Touraine, T. Similowski, Chemosensitivity recovery in Ondine's curse syndrome under treatment with desogestrel" [Respir. Physiol. Neurobiol. 171 (2010) 171-174]. (21801857)
2011
13
A case of congenital central hypoventilation syndrome with PHOX2B gene mutation in a Korean neonate. (20676341)
2010
14
Congenital central hypoventilation syndrome and the PHOX2B gene: a model of respiratory and autonomic dysregulation. (20601214)
2010
15
Comparison of PHOX2B testing methods in the diagnosis of congenital central hypoventilation syndrome and mosaic carriers. (21051998)
2010
16
Cerebral MRI abnormalities in a premature infant with later confirmed congenital central hypoventilation syndrome. (19953265)
2010
17
International Classification of Functioning, Disability and Health in children with congenital central hypoventilation syndrome. (19968527)
2009
18
Congenital central hypoventilation syndrome (CCHS) with Hirschsprung disease (Haddad syndrome): an unusual cause of reduced baseline variability of the fetal heart rate. (19274556)
2009
19
Dilated basilar arteries in patients with congenital central hypoventilation syndrome. (19822189)
2009
20
Neuropsychological, behavioral, and adaptive functioning of Swiss children with congenital central hypoventilation syndrome. (18984833)
2008
21
Congenital central hypoventilation syndrome: PHOX2B genotype determines risk for sudden death. (18041756)
2008
22
Congenital central hypoventilation syndrome. (17978458)
2007
23
De novo polyalanine expansion of PHOX2B in congenital central hypoventilation syndrome: unequal sister chromatid exchange during paternal gametogenesis. (17928950)
2007
24
Congenital central hypoventilation syndrome with PHOX2B gene mutation in a Taiwanese infant. (17282973)
2007
25
Vagal and sympathetic heart rate and blood pressure control in adult onset PHOX2B mutation-confirmed congenital central hypoventilation syndrome. (17541758)
2007
26
Ondine syndrome or central congenital hypoventilation syndrome]. (16584036)
2006
27
Case report of Haddad syndrome in a newborn: congenital central hypoventilation syndrome and Hirschsprung's disease. (16570083)
2006
28
Linear and non-linear assessment of heart rate variability in congenital central hypoventilation syndrome. (16817647)
2006
29
Autonomic function in children with congenital central hypoventilation syndrome and their families. (16236912)
2005
30
Hypoxia reveals posterior thalamic, cerebellar, midbrain, and limbic deficits in congenital central hypoventilation syndrome. (15531561)
2005
31
FMRI responses to hyperoxia in congenital central hypoventilation syndrome. (15718370)
2005
32
New evidence of baroreflex dysfunction in congenital central hypoventilation syndrome. (15634194)
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
Genetics of congenital central hypoventilation syndrome: lessons from a seemingly orphan disease. (15105164)
2004
35
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
36
Epidemiologic survey of 196 patients with congenital central hypoventilation syndrome. (14966815)
2004
37
Cough in children with congenital central hypoventilation syndrome. (15564086)
2004
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
Association of germline mutations and polymorphisms of the RET proto-oncogene with idiopathic congenital central hypoventilation syndrome in 33 patients. (12566528)
2003
41
Congenital central hypoventilation syndrome: a novel mutation of the RET gene in an isolated case. (12086152)
2002
42
Case/control family study of autonomic nervous system dysfunction in idiopathic congenital central hypoventilation syndrome. (11343310)
2001
43
Passive motion of the extremities modifies alveolar ventilation during sleep in patients with congenital central hypoventilation syndrome. (11069807)
2000
44
Tonic pupil associated with congenital neuroblastoma, Hirschsprung disease, and central hypoventilation syndrome. (11004304)
2000
45
Clinical letter: epidural analgesia in a newborn with Hirschsprung's disease, associated with congenital central hypoventilation syndrome. (11122313)
2000
46
Peripheral chemoreceptors in congenital central hypoventilation syndrome. (9001336)
1997
47
Endothelin-3 frameshift mutation in congenital central hypoventilation syndrome. (8696331)
1996
48
Peripheral chemoreceptor function in children with the congenital central hypoventilation syndrome. (8444717)
1993
49
Effect of mental activity on breathing in congenital central hypoventilation syndrome. (8108605)
1993
50
Congenital central hypoventilation syndrome: diagnosis, management, and long-term outcome in thirty-two children. (1538284)
1992

Genetic Variations for Congenital Central Hypoventilation Syndrome

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Genetic disease variations for Congenital Central Hypoventilation Syndrome:

62 (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

Expression for genes affiliated with Congenital Central Hypoventilation Syndrome

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1BioGPS, 15Gene Expression Omnibus DataSets
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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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12EMD Millipore, 37NCBI BioSystems Database, 51QIAGEN
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Pathways related to Congenital 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
9.5GDNF, RET, GFRA1
29.5GFRA1, RET, GDNF
3
Hide members
9.3GFRA1, RET, GDNF, BDNF
48.1ASCL1, EN1, RET, PHOX2B, PHOX2A, TLX3

Compounds for genes affiliated with Congenital Central Hypoventilation Syndrome

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44Novoseek, 28IUPHAR, 11DrugBank, 59Tocris Bioscience, 24HMDB, 49PharmGKB
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Compounds related to Congenital Central Hypoventilation Syndrome according to GeneCards/GeneDecks:

(show all 50)
idCompoundScoreTop Affiliating Genes
1glutamate4410.4GDNF
2pd 1428934410.3EDNRB, EDN3
3bq6104410.3EDNRB, EDN3
4bq 302044 2811.3EDNRB, EDN3
5tezosentan4410.3EDNRB, EDN3
6irl 162044 2811.3EDNRB, EDN3
7fr13931744 2811.3EDNRB, EDN3
8sarafotoxin4410.3EDNRB, EDN3
9bq78844 2811.3EDN3, EDNRB
10bq12344 2811.3EDNRB, EDN3
11propargylamine4410.3GDNF, BDNF
12bosentan44 1111.2EDNRB, EDN3
13riluzole44 28 1112.2BDNF, GDNF
14dopac4410.2GDNF, BDNF
15rasagiline44 1111.1GDNF, BDNF
161 methyl 4 phenylpyridinium4410.0GDNF, BDNF
17dbc-amp4410.0GDNF, EDN3, BDNF
18levodopa44 1111.0GDNF, EDN3, BDNF
19catecholamine449.9RET, GDNF, BDNF
20melatonin44 59 28 11 2413.9BDNF, EDNRB, GDNF
21selegiline44 1110.9GDNF, BDNF
22bromodeoxyuridine449.7BDNF, GDNF, GFRA1
23potassium44 11 2411.6BDNF, EDNRB, EDN3, GDNF
24lysine449.6BDNF, EDNRB, EDN3, ASCL1
25heparan sulfate44 2410.5GFRA1, RET, GDNF
26tetrodotoxin44 59 2811.5GRP, EDN3, BDNF
27phosphoramidon44 1110.5EDNRB, EDN3, GRP
28aspartate449.5BDNF, EDNRB, EDN3, GDNF, RET
29capsaicin44 2810.4BDNF, GRP, GDNF
30nifedipine44 49 28 1112.4BDNF, EDN3, GRP
31carbachol44 28 1111.3BDNF, EDN3, GRP
32cocaine44 1110.3GDNF, GRP, BDNF
33choline44 11 2411.2RET, GDNF, GRP, BDNF
34inositol 1,4,5 trisphosphate449.2BDNF, EDN3, GRP
35indomethacin44 59 28 1112.2BDNF, EDNRB, EDN3, GRP
36wortmannin449.1BDNF, GRP, GDNF, RET
37phosphoinositide449.1BDNF, EDN3, GRP, GDNF
38acetylcholine44 49 28 11 2412.9GDNF, GRP, EDN3, EDNRB, BDNF
39adenylate448.9BDNF, EDNRB, EDN3, GRP, GDNF
40thapsigargin44 599.8GRP, EDN3, BDNF
41cyclic amp44 249.7BDNF, PHOX2B, EDN3, GRP, GDNF, RET
42retinoic acid44 249.7BDNF, EDNRB, GRP, GDNF, RET, ASCL1
43vegf448.7BDNF, EDNRB, EDN3, GRP, GDNF, RET
44alanine448.6PHOX2B, EDNRB, EDN3, GRP, GDNF, RET
45dexamethasone44 49 28 1111.5UBC, EDNRB, EDN3, GRP, GDNF
46norepinephrine44 11 2410.3BDNF, PHOX2A, PHOX2B, EDNRB, EDN3, GRP
47phosphatidylinositol448.3BDNF, EDNRB, EDN3, GRP, GDNF, RET
48serine448.1BDNF, EDNRB, EDN3, GRP, GDNF, RET
49dopamine44 28 11 2410.8ASCL1, BDNF, PHOX2A, PHOX2B, EDN3, GRP
50tyrosine447.0BDNF, TLX1, PHOX2A, PHOX2B, EDNRB, EDN3

GO Terms for genes affiliated with Congenital Central Hypoventilation Syndrome

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

(show all 18)
idNameGO IDScoreTop Affiliating Genes
1posterior midgut developmentGO:00749710.2RET, EDNRB
2vein smooth muscle contractionGO:01482610.1EDN3, EDNRB
3noradrenergic neuron differentiationGO:00335710.1PHOX2A, PHOX2B
4dopaminergic neuron differentiationGO:07154210.1PHOX2A, PHOX2B
5neuron fate specificationGO:04866510.0TLX3, ASCL1
6vasoconstrictionGO:04231010.0EDNRB, EDN3
7positive regulation of neuron differentiationGO:0456669.9ASCL1, PHOX2B, BDNF
8response to painGO:0482659.9RET, EDNRB
9regulation of respiratory gaseous exchange by neurological system processGO:0020879.9TLX3, PHOX2B
10melanocyte differentiationGO:0303189.9EDN3, EDNRB
11negative regulation of neuron differentiationGO:0456659.8TLX3, PHOX2B, ASCL1
12neuron migrationGO:0017649.8TLX3, PHOX2B, ASCL1
13sympathetic nervous system developmentGO:0484859.6PHOX2A, PHOX2B, GDNF, ASCL1
14enteric nervous system developmentGO:0484849.6RET, GDNF, EDNRB, PHOX2B
15neural crest cell migrationGO:0017559.6RET, GDNF, EDN3, EDNRB
16cell surface receptor signaling pathwayGO:0071669.4GFRA1, EDN3, EDNRB
17negative regulation of apoptotic processGO:0430668.8UBC, EDNRB, GDNF, ASCL1
18positive regulation of transcription from RNA polymerase II promoterGO:0459448.0TLX1, UBC, PHOX2A, PHOX2B, GDNF, 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:0009779.6PHOX2B, PHOX2A
2sequence-specific DNA bindingGO:0435658.8ASCL1, EN1, TLX1, TLX3
3receptor bindingGO:0051028.6EDN3, GRP, GDNF, GFRA1
4sequence-specific DNA binding transcription factor activityGO:0037008.2ASCL1, EN1, PHOX2B, PHOX2A, 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
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet