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 Signaling events regulated by Ret tyrosine kinase and G-protein signaling H-RAS regulation pathway. The compounds glutamate 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: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, 60UMLS, 44Novoseek
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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:

Search CenterWatch for Congenital Central Hypoventilation Syndrome

Drug clinical trials:

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Search NIH Clinical Center for Congenital Central Hypoventilation Syndrome

Search CenterWatch for Congenital Central Hypoventilation Syndrome

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, Testes, Cerebellum, Breast, 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, ASCL1, EN1, EDN3
2MP:00053888.5PHOX2A, PHOX2B, EDNRB, RET, ASCL1, BDNF
3MP:00028738.5RET, ASCL1, GFRA1, BDNF, PHOX2B, EN1
4MP:00053818.3GDNF, GFRA1, RET, EDN3, EDNRB, TLX3
5MP:00107718.0EN1, BDNF, TLX3, EDNRB, EDN3, GFRA1
6MP:00053807.5TLX1, RET, UBC, PHOX2B, EDNRB, EDN3
7MP:00053787.3ASCL1, PHOX2B, EDNRB, GDNF, RET, EN1
8MP:00053867.0PHOX2B, EDNRB, EDN3, GDNF, RET, GFRA1
9MP:00053846.7UBC, BDNF, TLX1, PHOX2A, ASCL1, EN1
10MP:00036316.6PHOX2A, TLX3, BDNF, ASCL1, EN1, GFRA1
11MP:00107686.5BDNF, TLX3, UBC, PHOX2A, ASCL1, EN1

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
Neurally adjusted ventilatory assist (NAVA) mode as an adjunct diagnostic tool in congenital central hypoventilation syndrome. (23374524)
2013
2
Residual chemosensitivity to ventilatory challenges in genotyped congenital central hypoventilation syndrome. (24381123)
2013
3
Congenital central hypoventilation syndrome and sudden infant death syndrome: disorders of autonomic regulation. (23465774)
2013
4
PHOX2B Mutation in a Taiwanese Newborn with Congenital Central Hypoventilation Syndrome. (23597545)
2013
5
Monitoring diaphragm electrical activity and the detection of congenital central hypoventilation syndrome in a newborn. (24169930)
2013
6
Inheritance of polyalanine expansion mutation of PHOX2B in congenital central hypoventilation syndrome. (22437207)
2012
7
A reliable prognosis for congenital central hypoventilation syndrome should reflect a patient's genetic profile and management history. (23032508)
2012
8
Vocal cord collapse during phrenic nerve-paced respiration in congenital central hypoventilation syndrome. (24358809)
2012
9
Late-onset, insidious course and invasive treatment of congenital central hypoventilation syndrome in a case with the Phox2B mutation: case report. (22102181)
2012
10
Congenital central hypoventilation syndrome with hirschsprung's disease due to PHOX2B gene mutation in a Turkish infant. (23427517)
2012
11
Progressive gray matter changes in patients with congenital central hypoventilation syndrome. (22343924)
2012
12
Congenital central hypoventilation syndrome in children. (22018041)
2011
13
Congenital central hypoventilation syndrome: four families. (21076974)
2011
14
Congenital central hypoventilation syndrome: a case report. (21730909)
2011
15
Congenital central hypoventilation syndrome due to PHOX2B mutation in a Saudi child: a case report. (21088916)
2011
16
Congenital central hypoventilation syndrome: neurocognitive functioning in school age children. (19960523)
2010
17
Average volume-assured pressure support in a 16-year-old girl with congenital central hypoventilation syndrome. (21206552)
2010
18
Mammillary body and fornix injury in congenital central hypoventilation syndrome. (19581831)
2009
19
Compound effect of PHOX2B and RET gene variants in congenital central hypoventilation syndrome combined with Hirschsprung disease. (18438890)
2008
20
Structural abnormalities in the brainstem and cerebellum in congenital central hypoventilation syndrome: commentary on the article by Kumar et al. on page 275. (18714200)
2008
21
Congenital central hypoventilation syndrome with hyperinsulinism in a preterm infant. (18340402)
2008
22
Concomitant existence of total bowel aganglionosis and congenital central hypoventilation syndrome in a neonate with PHOX2B gene mutation. (17270534)
2007
23
Effects of movement and work load in patients with congenital central hypoventilation syndrome. (17446810)
2007
24
Cardio-respiratory Uncoupling in Congenital Central Hypoventilation Syndrome. (17281214)
2005
25
Aberrant neural responses to cold pressor challenges in congenital central hypoventilation syndrome. (15718375)
2005
26
Neuroanatomic deficits in congenital central hypoventilation syndrome. (15906312)
2005
27
Functional brain deficits in congenital central hypoventilation syndrome: commentary on the articles by Woo et al. on page 510 and Macey et al. on page 500. (15718351)
2005
28
In pursuit (and discovery) of a genetic basis for congenital central hypoventilation syndrome. (16054879)
2005
29
fMRI signal changes in response to forced expiratory loading in congenital central hypoventilation syndrome. (15258126)
2004
30
Long-term survival of a patient with congenital central hypoventilation syndrome despite the lack of continuous ventilatory support. (15031579)
2004
31
Haploinsufficiency for Phox2b in mice causes dilated pupils and atrophy of the ciliary ganglion: mechanistic insights into human congenital central hypoventilation syndrome. (15150159)
2004
32
Anesthetic management of a child with congenital central hypoventilation syndrome (CCHS, Ondine's curse) for dental treatment. (15497300)
2004
33
Noninvasive assessment of cardiovascular autonomic control in congenital central hypoventilation syndrome. (17271141)
2004
34
Global BOLD MRI changes to ventilatory challenges in congenital central hypoventilation syndrome. (14637309)
2003
35
Molecular analysis of congenital central hypoventilation syndrome. (14566559)
2003
36
Early use of Nasal-BiPAP in two infants with Congenital Central Hypoventilation syndrome. (12892162)
2003
37
Idiopathic congenital central hypoventilation syndrome: evaluation of brain-derived neurotrophic factor genomic DNA sequence variation. (11840487)
2002
38
Genetic segregation analysis of autonomic nervous system dysfunction in families of probands with idiopathic congenital central hypoventilation syndrome. (11343309)
2001
39
Chemoreceptive mechanisms elucidated by studies of congenital central hypoventilation syndrome. (11738658)
2001
40
Congenital central hypoventilation syndrome associated with Hirschsprung's disease: mutation analysis of the RET and endothelin-signaling pathways. (11719874)
2001
41
Congenital central hypoventilation syndrome and Hirschsprung's disease. (9623393)
1998
42
Congenital central hypoventilation syndrome: ocular findings in 37 children. (8771521)
1996
43
Congenital central hypoventilation syndrome: cardiorespiratory responses to moderate exercise, simulating daily activity. (8570308)
1995
44
Anxiety and congenital central hypoventilation syndrome. (8184995)
1994
45
Congenital Central Hypoventilation Syndrome (20301600)
1993
46
Congenital central hypoventilation syndrome and Hirschsprung's disease in half sibs. (2654399)
1989
47
Congenital central hypoventilation syndrome associated with multiple ganglioneuromas. (2752827)
1989
48
Ventilatory effects of almitrine bismesylate in congenital central hypoventilation syndrome. (3777687)
1986
49
Congenital central hypoventilation syndrome treated with diaphragm pacing. (6601358)
1983
50
Congenital central hypoventilation syndrome. A report of successful experience with bilateral diaphragmatic pacing. (6969060)
1980

Genetic Variations for Congenital Central Hypoventilation Syndrome

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62UniProtKB/Swiss-Prot
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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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37NCBI BioSystems Database, 12EMD Millipore, 51QIAGEN
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Pathways related to Congenital Central Hypoventilation Syndrome according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.5GFRA1, RET, GDNF
2
G-protein signaling H-RAS regulation pathway
Hide members
9.5GFRA1, RET, GDNF
3
Hide members
9.3GFRA1, BDNF, GDNF, RET
48.1PHOX2A, BDNF, PHOX2B, RET, EN1, ASCL1

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

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:0051028.6GRP, GFRA1, EDN3, GDNF
4sequence-specific DNA binding transcription factor activityGO:0037008.2PHOX2A, ASCL1, EN1, PHOX2B, TLX3, TLX1

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