CCHS
MCID: CNG042
MIFTS: 64

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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43NIH Rare Diseases, 65Wikipedia, 47OMIM, 19GeneReviews, 33MalaCards
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NIH Rare Diseases:43 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 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 bq610 and bq 3020 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:65 Ondine\'s curse, also called congenital central hypoventilation syndrome (CCHS) or primary alveolar... more...

Description from OMIM:47 209880

GeneReviews summary for ondine

Aliases & Classifications for Congenital Central Hypoventilation Syndrome

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19GeneReviews, 43NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 47OMIM, 45Novoseek, 62UMLS
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Classifications:

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


Aliases & Descriptions:

congenital central hypoventilation syndrome 19 43 20 22 21
haddad syndrome 21 47 62
central hypoventilation syndrome, congenital 47 45
congenital failure of autonomic control 43 21
congenital central hypoventilation 21 62
ondine-hirschsprung disease 21 62
cchs 43 21
idiopathic congenital central alveolar hypoventilation 43
sleep-related respiratory failure 62
primary alveolar hypoventilation 43
congenital ondine curse 43
sleep apnea, central 62
ondine syndrome 21
ondine's curse 43
ondine curse 43


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 57)
idRelated DiseaseScoreTop Affiliating Genes
1central hypoventilation syndrome32.2GDNF
2sudden infant death syndrome30.9EN1, PHOX2B
3hirschsprung's disease30.9GFRA1, GDNF, EDNRB, EDN3, RET, PHOX2B
4central hypoventilation syndrome, congenital, with or without hirschsprung disease30.7BDNF, PHOX2B, RET
5neuroblastoma30.5BDNF, PHOX2B
6cerebritis10.4
7anterior spinal artery syndrome10.3
821-hydroxylase deficiency10.3
9central sleep apnea10.2
10western equine encephalitis10.2
11encephalitis10.2
12hypersomnia10.2
13obstructive sleep apnea10.2
14neuronitis10.2
15hyperinsulinism10.2
16ganglioneuroma10.2
17down syndrome10.2
18esophagitis10.2
19hyperglycemia10.2
20hypertension10.2
21sleep apnea10.2
22rohhad10.2
23autonomic dysfunction10.2
24hypoxia10.2
25cor pulmonale10.2
26central nervous system teratoma10.1
27familial medullary thyroid carcinoma10.1GDNF
28renal dysplasia10.1GDNF, RET
29neuroma10.1GDNF, RET
30multiple endocrine neoplasia10.1RET, GDNF
31brain ischemia10.1GDNF, BDNF
32neurofibromatosis10.0RET, GDNF
33developmental disabilities10.0EDNRB, RET, BDNF
34neuroendocrine carcinoma10.0GRP, ASCL1
35waardenburg syndrome type 410.0EDNRB, EDN3, RET
36carcinoid syndrome10.0ASCL1, RET, GRP
37waardenburg's syndrome10.0EDNRB, EDN3, RET
38motor neuron disease10.0GDNF, BDNF
39paraganglioma10.0RET, GRP
40clear cell hidradenoma10.0
41nodular hidradenoma10.0
42hidradenoma10.0
43temporal lobe epilepsy10.0BDNF, GDNF
44glaucoma10.0BDNF, EDNRB, GDNF, RET
45multiple endocrine neoplasia type 2a10.0GFRA1, RET, GDNF
46renal agenesis10.0RET, GDNF, GFRA1
47intestinal obstruction10.0RET, EDN3, EDNRB, GDNF
48chronic kidney failure10.0GDNF, EDN3, GRP
49hypertrophy of breast10.0BDNF, GDNF, GRP
50parkinson's disease10.0GDNF, GFRA1, BDNF

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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47OMIM
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Clinical features from OMIM:

209880

Drugs & Therapeutics for Congenital Central Hypoventilation Syndrome

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42NIH Clinical Center, 6ClinicalTrials, 62UMLS, 41NDF-RT
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Drug clinical trials:

Search ClinicalTrials for Congenital Central Hypoventilation Syndrome

Search NIH Clinical Center 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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33MalaCards
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MalaCards organs/tissues related to Congenital Central Hypoventilation Syndrome:

33
Heart, Eye, Skin, Brain, Cerebellum, Breast, Testes, Ciliary ganglion

Animal Models for Congenital Central Hypoventilation Syndrome or affiliated genes

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37MGI
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MGI Mouse Phenotypes related to Congenital Central Hypoventilation Syndrome:

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

Publications for Congenital Central Hypoventilation Syndrome

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52PubMed
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Articles related to Congenital Central Hypoventilation Syndrome:

(show top 50)    (show all 195)
idTitleAuthorsYear
1
Reversal of pulmonary hypertension after diaphragm pacing in an adult patient with congenital central hypoventilation syndrome. (23653299)
2013
2
Neurally adjusted ventilatory assist (NAVA) mode as an adjunct diagnostic tool in congenital central hypoventilation syndrome. (23374524)
2013
3
Peripheral chemoreceptors in congenital central hypoventilation syndrome. (23099221)
2013
4
Extreme intra-familial variability of congenital central hypoventilation syndrome: a case series. (23622117)
2013
5
Autonomic dysfunction of glucose homoeostasis in congenital central hypoventilation syndrome. (23231723)
2013
6
Inheritance of polyalanine expansion mutation of PHOX2B in congenital central hypoventilation syndrome. (22437207)
2012
7
Congenital central hypoventilation syndrome with PHOX2B gene mutation. (22674249)
2012
8
A reliable prognosis for congenital central hypoventilation syndrome should reflect a patient's genetic profile and management history. (23032508)
2012
9
A triple threat: Down syndrome, congenital central hypoventilation syndrome, and Hirschsprung disease. (23045564)
2012
10
The E3 ubiquitin ligase TRIM11 mediates the degradation of congenital central hypoventilation syndrome-associated polyalanine-expanded PHOX2B. (22307522)
2012
11
Congenital central hypoventilation syndrome in a full-term baby presenting with repeated extubation failure. (22348500)
2012
12
Congenital central hypoventilation syndrome and hypoglycaemia. (22103583)
2012
13
Low amounts of PHOX2B expanded alleles in asymptomatic parents suggest unsuspected recurrence risk in congenital central hypoventilation syndrome. (21336852)
2011
14
Vagal nerve stimulator placement for medically refractory seizures in a child treated with phrenic nerve pacing for congenital central hypoventilation syndrome. (21456915)
2011
15
Congenital central hypoventilation syndrome in children. (22018041)
2011
16
Congenital central hypoventilation syndrome: four families. (21076974)
2011
17
Congenital central hypoventilation syndrome: a case report. (21730909)
2011
18
Polyalanine expansion of PHOX2B in congenital central hypoventilation syndrome: rs17884724:A>C is associated with 7-alanine expansion. (19881470)
2010
19
An unusual presentation of congenital central hypoventilation syndrome (Ondine's Curse). (20304901)
2010
20
Phox2b, congenital central hypoventilation syndrome and the control of respiration. (20691277)
2010
21
PHOX2B in respiratory control: lessons from congenital central hypoventilation syndrome and its mouse models. (19712905)
2009
22
Congenital central hypoventilation syndrome from past to future: model for translational and transitional autonomic medicine. (19422034)
2009
23
International Classification of Functioning, Disability and Health in children with congenital central hypoventilation syndrome. (19968527)
2009
24
Hippocampal volume reduction in congenital central hypoventilation syndrome. (19649271)
2009
25
Sudden death in congenital central hypoventilation syndrome. (19009617)
2008
26
Concomitant existence of total bowel aganglionosis and congenital central hypoventilation syndrome in a neonate with PHOX2B gene mutation. (17270534)
2007
27
Congenital central hypoventilation syndrome. (17978458)
2007
28
De novo polyalanine expansion of PHOX2B in congenital central hypoventilation syndrome: unequal sister chromatid exchange during paternal gametogenesis. (17928950)
2007
29
Congenital central hypoventilation syndrome with PHOX2B gene mutation in a Taiwanese infant. (17282973)
2007
30
Case report of Haddad syndrome in a newborn: congenital central hypoventilation syndrome and Hirschsprung's disease. (16570083)
2006
31
Adult identified with congenital central hypoventilation syndrome--mutation in PHOX2b gene and late-onset CHS. (15615891)
2005
32
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
33
Congenital central hypoventilation syndrome and Hirschsprung's disease in an extremely preterm infant. (15930201)
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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64UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 7dbSNP
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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:

1
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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2BioGPS, 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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50PathCards, 38NCBI BioSystems Database, 60Thomson Reuters, 53QIAGEN, 55Reactome, 30KEGG
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Compounds for genes affiliated with Congenital Central Hypoventilation Syndrome

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45Novoseek, 29IUPHAR, 11DrugBank, 61Tocris Bioscience, 24HMDB, 51PharmGKB
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Compounds related to Congenital Central Hypoventilation Syndrome according to GeneCards/GeneDecks:

(show top 50)    (show all 65)
idCompoundScoreTop Affiliating Genes
1bq6104510.3EDNRB, EDN3
2bq 302045 2911.3EDNRB, EDN3
3pd 1428934510.3EDNRB, EDN3
4fr13931745 2911.3EDNRB, EDN3
5irl 162045 2911.3EDNRB, EDN3
6propargylamine4510.3GDNF, BDNF
7tezosentan4510.3EDN3, EDNRB
8sarafotoxin4510.3EDNRB, EDN3
9bq78845 2911.2EDN3, EDNRB
10bq12345 2911.2EDN3, EDNRB
11riluzole45 29 1112.2BDNF, GDNF
12bosentan45 1111.1EDNRB, EDN3
13dopac4510.1GDNF, BDNF
14rasagiline45 1111.0BDNF, GDNF
15dbc-amp4510.0BDNF, GDNF, EDN3
16catecholamine4510.0BDNF, GDNF, RET
17levodopa45 1111.0GDNF, BDNF, EDN3
18melatonin45 29 61 24 1113.9BDNF, EDNRB, GDNF
191 methyl 4 phenylpyridinium459.8GDNF, BDNF
20bromodeoxyuridine459.7BDNF, GFRA1, GDNF
21lysine459.6EDNRB, EDN3, BDNF, ASCL1
22potassium45 24 1111.6BDNF, EDN3, EDNRB, GDNF
23heparan sulfate45 2410.5GDNF, GFRA1, RET
24tetrodotoxin45 61 2911.5EDN3, GRP, BDNF
25aspartate459.5RET, EDN3, EDNRB, GDNF, BDNF
26phosphoramidon45 1110.5GRP, EDN3, EDNRB
27capsaicin45 2910.5GDNF, BDNF, GRP
28nifedipine45 29 51 1112.4BDNF, GRP, EDN3
29carbachol45 29 1111.3EDN3, GRP, BDNF
30cocaine45 1110.3GRP, BDNF, GDNF
31choline45 24 1111.3RET, GDNF, GRP, BDNF
32inositol 1,4,5 trisphosphate459.2EDN3, GRP, BDNF
33wortmannin459.2GDNF, BDNF, GRP, RET
34indomethacin45 29 61 1112.2GRP, EDNRB, EDN3, BDNF
35acth459.1EDN3, GRP, BDNF
36phosphoinositide459.1BDNF, GRP, GDNF, EDN3
37acetylcholine45 51 29 24 1112.9EDNRB, GDNF, BDNF, GRP, EDN3
38adenylate458.9BDNF, GRP, EDN3, EDNRB, GDNF
39thapsigargin45 619.8EDN3, GRP, BDNF
40glutamate458.8GDNF, EDN3, GRP, EDNRB, BDNF
41cyclic amp45 249.7EDN3, BDNF, PHOX2B, GDNF, RET, GRP
42retinoic acid45 249.7BDNF, RET, GRP, GDNF, EDNRB, ASCL1
43vegf458.7GRP, EDNRB, BDNF, RET, EDN3, GDNF
44alanine458.6EDN3, RET, GRP, PHOX2B, GDNF, EDNRB
45dexamethasone45 51 29 1111.6GRP, GDNF, EDNRB, EDN3, UBC
46serine458.5GDNF, EDNRB, RET, EDN3, BDNF, GRP
47norepinephrine45 24 1110.3GDNF, EDNRB, EDN3, GRP, PHOX2A, BDNF
48phosphatidylinositol458.3RET, EDNRB, GDNF, EDN3, GFRA1, BDNF
49dopamine45 29 24 1110.8GRP, BDNF, PHOX2A, RET, ASCL1, GFRA1
50tyrosine457.0EDNRB, EDN3, TLX1, GFRA1, ASCL1, BDNF

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 24)
idNameGO IDScoreTop Affiliating Genes
1noradrenergic neuron developmentGO:00335810.3ASCL1, PHOX2B
2sympathetic ganglion developmentGO:06154910.2ASCL1, PHOX2B
3posterior midgut developmentGO:00749710.2RET, EDNRB
4noradrenergic neuron differentiationGO:00335710.2PHOX2B, PHOX2A
5vein smooth muscle contractionGO:01482610.2EDN3, EDNRB
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:0484849.6PHOX2B, 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:0309019.6EN1, 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
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet