MCID: CNT048
MIFTS: 53

Central Hypoventilation Syndrome malady

Genetic diseases, Rare diseases categories
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Summaries for Central Hypoventilation Syndrome

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Wikipedia:65 Ondine\'s curse, also called congenital central hypoventilation syndrome (CCHS) or primary alveolar... more...

MalaCards based summary: Central Hypoventilation Syndrome is related to central hypoventilation syndrome, congenital, with or without hirschsprung disease and sudden infant death syndrome. An important gene associated with Central Hypoventilation Syndrome is GDNF (glial cell derived neurotrophic factor), and among its related pathways are Fanconi anemia pathway and Signaling events regulated by Ret tyrosine kinase. The compounds pd 142893 and bq610 have been mentioned in the context of this disorder. Affiliated tissues include heart, brain and eye, and related mouse phenotypes are no phenotypic analysis and pigmentation.

Description from OMIM:46 209880

Aliases & Classifications for Central Hypoventilation Syndrome

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Central Hypoventilation Syndrome, Aliases & Descriptions:

Name: Central Hypoventilation Syndrome 46 62


Classifications:

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


Related Diseases for Central Hypoventilation Syndrome

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Diseases in the Congenital Central Hypoventilation Syndrome family:

central hypoventilation syndrome

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

(show top 50)    (show all 74)
idRelated DiseaseScoreTop Affiliating Genes
1central hypoventilation syndrome, congenital, with or without hirschsprung disease31.3RET, PHOX2B, BDNF
2sudden infant death syndrome30.8TH, EN1, PHOX2B
3hirschsprung's disease30.8EDN3, RET, GDNF, GFRA1, EDNRB, PHOX2B
4neuroblastoma30.7BDNF, TH, PHOX2B
5ganglioneuroma30.5RET, TH
6congenital central hypoventilation syndrome11.3
7familial medullary thyroid carcinoma10.5GDNF
8peritoneal carcinoma10.4BRCA1
9renal dysplasia10.4RET, GDNF
10neuroma10.4RET, GDNF
11cerebritis10.4
12sleep apnea10.4
13waardenburg syndrome type 410.3RET, EDNRB, EDN3
14waardenburg's syndrome10.3EDN3, EDNRB, RET
15developmental disabilities10.3EDNRB, RET, BDNF
16rohhad10.3
17familial colorectal cancer10.3BRCA1, RET
18autosomal dominant disease10.3RET, BRCA1
19cowden disease10.3BRCA1, RET
20neonatal hypoxic and ischemic brain injury10.2TH, BDNF
21brain ischemia10.2BDNF, GDNF
22intestinal obstruction10.2RET, EDNRB, GDNF, EDN3
23bipolar disorder10.2BDNF, TH
24multiple endocrine neoplasia type 2a10.2RET, GFRA1, GDNF
25renal agenesis10.2RET, GDNF, GFRA1
26rett syndrome10.2TH, BDNF
27neuroendocrine carcinoma10.2GRP, ASCL1
28multiple endocrine neoplasia10.2GDNF, TH, RET
29hypertension10.2
30pulmonary hypertension10.2
31hyperinsulinism10.2
32down syndrome10.2
33obstructive sleep apnea10.2
34central sleep apnea10.2
35neuronitis10.2
36encephalitis10.2
37esophagitis10.2
38ganglioneuroblastoma10.2
39hyperglycemia10.2
40influenza10.2
41learning disability10.2
42meningitis10.2
43haemophilus influenzae10.2
44autonomic dysfunction10.2
45hypoxia10.2
46cor pulmonale10.2
47teratocarcinoma10.2ASCL1, TH, GDNF
48toxic encephalopathy10.1TH, GDNF, BDNF
49mood disorder10.1BDNF, TH, GDNF
50prion disease10.1BDNF, GDNF, TH

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



Diseases related to central hypoventilation syndrome

Symptoms for Central Hypoventilation Syndrome

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Clinical features from OMIM:

209880

Drugs & Therapeutics for Central Hypoventilation Syndrome

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Drug clinical trials:

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Search NIH Clinical Center for Central Hypoventilation Syndrome

Genetic Tests for Central Hypoventilation Syndrome

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Anatomical Context for Central Hypoventilation Syndrome

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MalaCards organs/tissues related to Central Hypoventilation Syndrome:

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

Animal Models for Central Hypoventilation Syndrome or affiliated genes

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Publications for Central Hypoventilation Syndrome

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Articles related to Central Hypoventilation Syndrome:

(show top 50)    (show all 221)
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
Inheritance of polyalanine expansion mutation of PHOX2B in congenital central hypoventilation syndrome. (22437207)
2012
8
Congenital central hypoventilation syndrome with PHOX2B gene mutation. (22674249)
2012
9
A reliable prognosis for congenital central hypoventilation syndrome should reflect a patient's genetic profile and management history. (23032508)
2012
10
A triple threat: Down syndrome, congenital central hypoventilation syndrome, and Hirschsprung disease. (23045564)
2012
11
The E3 ubiquitin ligase TRIM11 mediates the degradation of congenital central hypoventilation syndrome-associated polyalanine-expanded PHOX2B. (22307522)
2012
12
Congenital central hypoventilation syndrome in a full-term baby presenting with repeated extubation failure. (22348500)
2012
13
Congenital central hypoventilation syndrome and hypoglycaemia. (22103583)
2012
14
Low amounts of PHOX2B expanded alleles in asymptomatic parents suggest unsuspected recurrence risk in congenital central hypoventilation syndrome. (21336852)
2011
15
Vagal nerve stimulator placement for medically refractory seizures in a child treated with phrenic nerve pacing for congenital central hypoventilation syndrome. (21456915)
2011
16
Congenital central hypoventilation syndrome in children. (22018041)
2011
17
Congenital central hypoventilation syndrome: four families. (21076974)
2011
18
Congenital central hypoventilation syndrome: a case report. (21730909)
2011
19
Polyalanine expansion of PHOX2B in congenital central hypoventilation syndrome: rs17884724:A>C is associated with 7-alanine expansion. (19881470)
2010
20
A case of late-onset central hypoventilation syndrome with hypothalamic dysfunction: through a new phenotype. (20560260)
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
PHOX2B germline and somatic mutations in late-onset central hypoventilation syndrome. (18079495)
2008
26
A novel missense mutation in the PHOX2B gene is associated with late onset central hypoventilation syndrome. (18785257)
2008
27
Sudden death in congenital central hypoventilation syndrome. (19009617)
2008
28
Concomitant existence of total bowel aganglionosis and congenital central hypoventilation syndrome in a neonate with PHOX2B gene mutation. (17270534)
2007
29
Congenital central hypoventilation syndrome. (17978458)
2007
30
De novo polyalanine expansion of PHOX2B in congenital central hypoventilation syndrome: unequal sister chromatid exchange during paternal gametogenesis. (17928950)
2007
31
Congenital central hypoventilation syndrome with PHOX2B gene mutation in a Taiwanese infant. (17282973)
2007
32
Case report of Haddad syndrome in a newborn: congenital central hypoventilation syndrome and Hirschsprung's disease. (16570083)
2006
33
Adult identified with congenital central hypoventilation syndrome--mutation in PHOX2b gene and late-onset CHS. (15615891)
2005
34
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
35
Sudden infant death syndrome is not associated with the mutation of PHOX2B gene, a major causative gene of congenital central hypoventilation syndrome. (15185974)
2004
36
fMRI signal changes in response to forced expiratory loading in congenital central hypoventilation syndrome. (15258126)
2004
37
Genetics of congenital central hypoventilation syndrome: lessons from a seemingly orphan disease. (15105164)
2004
38
24-hour BP in children with congenital central hypoventilation syndrome. (14555571)
2003
39
Polyalanine expansion and frameshift mutations of the paired-like homeobox gene PHOX2B in congenital central hypoventilation syndrome. (12640453)
2003
40
Genetic segregation analysis of autonomic nervous system dysfunction in families of probands with idiopathic congenital central hypoventilation syndrome. (11343309)
2001
41
Congenital central hypoventilation syndrome and Hirschsprung's disease. (9623393)
1998
42
Congenital central hypoventilation syndrome: mutation analysis of the receptor tyrosine kinase RET. (8826440)
1996
43
Congenital central hypoventilation syndrome: cardiorespiratory responses to moderate exercise, simulating daily activity. (8570308)
1995
44
Central hypoventilation syndrome associated with ganglioneuroblastoma. (8555134)
1995
45
Daniel's story: congenital central hypoventilation syndrome. (8121351)
1993
46
Congenital Central Hypoventilation Syndrome (20301600)
1993
47
Congenital central hypoventilation syndrome: inheritance and relation to sudden infant death syndrome. (8135282)
1993
48
Hypercapnic and hypoxic ventilatory responses in parents and siblings of children with congenital central hypoventilation syndrome. (2064119)
1991
49
Hypercapneic arousal responses in children with congenital central hypoventilation syndrome. (1945641)
1991
50
Encephalitis associated with carcinoma. Central hypoventilation syndrome and cytoplasmic inclusion bodies. (4374509)
1974

Variations for Central Hypoventilation Syndrome

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

64
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 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 Central Hypoventilation Syndrome

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

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

Pathways for genes affiliated with Central Hypoventilation Syndrome

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Pathways related to Central Hypoventilation Syndrome according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.7UBC, BRCA1
29.7GDNF, GFRA1, RET
39.7RET, GFRA1, GDNF
4
Show member pathways
Development ERBB family signaling60
Development GDNF family signaling60
9.4GDNF, GFRA1, RET, BDNF
5
Show member pathways
9.1GRP, EDN3, EDNRB
67.8BDNF, TH, TLX3, ASCL1, RET, EN1

Compounds for genes affiliated with Central Hypoventilation Syndrome

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

(show top 50)    (show all 93)
idCompoundScoreTop Affiliating Genes
1pd 1428934410.3EDNRB, EDN3
2bq6104410.3EDNRB, EDN3
3bq 302044 2811.3EDNRB, EDN3
4tezosentan4410.2EDNRB, EDN3
5sarafotoxin4410.1EDNRB, EDN3
6fr13931744 2811.1EDN3, EDNRB
7irl 162044 2811.1EDNRB, EDN3
8dopac4410.0BDNF, TH, GDNF
91 methyl 4 phenylpyridinium4410.0GDNF, BDNF, TH
10selegiline44 1111.0GDNF, TH, BDNF
11bq78844 2811.0EDN3, EDNRB
12propargylamine4410.0BDNF, GDNF
136-hydroxydopamine449.9TH, GDNF, BDNF
14mptp449.9GDNF, BDNF, TH
15catecholamine449.8BDNF, TH, GDNF, RET
16levodopa44 1110.8GDNF, TH, BDNF, EDN3
17phenylalanine449.6RET, BDNF, ASCL1, TH
18lysine449.5EDNRB, EDN3, BDNF, ASCL1, BRCA1
19phosphoramidon44 1110.5GRP, EDN3, EDNRB
20amphetamine44 50 1111.4GRP, TH, GDNF
21methionine449.3RET, BRCA1, EDN3, BDNF
22capsaicin44 2810.3BDNF, GRP, GDNF
23aspartate449.2BDNF, GDNF, EDNRB, EDN3, RET, TH
24guanine44 24 1111.2EDN3, BRCA1, GRP, EDNRB
25cocaine44 1110.2TH, BDNF, GRP, GDNF
26tetrodotoxin44 61 2811.2TH, GRP, EDN3, BDNF
27h2o2449.2GDNF, TH, BRCA1, EDNRB, BDNF
28agar449.1BDNF, GRP, BRCA1, RET
29carbachol44 28 1111.1TH, GRP, EDN3, BDNF
30thapsigargin44 6110.1GRP, EDN3, BDNF, TH
31gnrh449.1GRP, EDN3, TH, BDNF
32cysteine449.0GFRA1, BRCA1, TH, GDNF, EDNRB, RET
33gaba449.0GDNF, GRP, BDNF, TH
34choline44 24 1111.0BDNF, RET, GDNF, TH, GRP
35indomethacin44 28 61 1111.8EDN3, EDNRB, GRP, BDNF
36acetylcholine44 50 28 24 1112.7EDNRB, GDNF, EDN3, TH, GRP, BDNF
37adenylate448.6BDNF, GRP, GDNF, TH, EDN3, EDNRB
38testosterone44 61 24 1111.6RET, GRP, EDN3, BDNF, BRCA1, TH
39glutamate448.6GDNF, EDNRB, EDN3, TH, GRP, BDNF
40cyclic amp44 249.5BDNF, PHOX2B, RET, TH, EDN3, GRP
41nmda44 289.5GDNF, BDNF, GRP, TH
42serine448.4GDNF, BDNF, GRP, RET, BRCA1, EDN3
43dexamethasone44 50 28 1111.4TH, EDN3, GDNF, GRP, EDNRB, UBC
44alanine448.2GRP, RET, BRCA1, EDN3, EDNRB, GDNF
45phosphatidylinositol448.2BRCA1, BDNF, GFRA1, EDN3, GDNF, EDNRB
46retinoic acid44 249.2BRCA1, ASCL1, RET, GDNF, GRP, BDNF
47vegf448.2GDNF, RET, GRP, BRCA1, TH, EDN3
48norepinephrine44 24 1110.1EDNRB, BDNF, PHOX2A, PHOX2B, GRP, TH
49dopamine44 28 24 1110.6TH, GDNF, EDN3, BDNF, GFRA1, ASCL1
50tyrosine446.6TH, EDN3, EDNRB, GDNF, BRCA1, TLX1

GO Terms for genes affiliated with Central Hypoventilation Syndrome

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

(show all 22)
idNameGO IDScoreTop Affiliating Genes
1noradrenergic neuron developmentGO:00335810.3PHOX2B, ASCL1
2sympathetic ganglion developmentGO:06154910.3PHOX2B, ASCL1
3posterior midgut developmentGO:00749710.3RET, 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
8regulation of respiratory gaseous exchange by neurological system processGO:00208710.1TLX3, PHOX2B
9neuron fate specificationGO:04866510.0ASCL1, TLX3
10vasoconstrictionGO:04231010.0EDNRB, EDN3
11positive regulation of neuron differentiationGO:04566610.0ASCL1, PHOX2B, BDNF
12negative regulation of neuron differentiationGO:0456659.9TLX3, ASCL1, PHOX2B
13neuron migrationGO:0017649.9PHOX2B, ASCL1, TLX3
14enteric nervous system developmentGO:0484849.8PHOX2B, RET, EDNRB, GDNF
15sympathetic nervous system developmentGO:0484859.8GDNF, ASCL1, PHOX2B, PHOX2A
16neural crest cell migrationGO:0017559.8GDNF, EDNRB, EDN3, RET
17melanocyte differentiationGO:0303189.6EDN3, EDNRB
18cell surface receptor signaling pathwayGO:0071669.6EDNRB, EDN3, GFRA1
19midbrain developmentGO:0309019.5PHOX2A, EN1
20pigmentationGO:0434739.4EN1, TH
21negative regulation of apoptotic processGO:0430669.3UBC, ASCL1, EDNRB, GDNF
22positive regulation of transcription from RNA polymerase II promoterGO:0459448.0GDNF, TLX1, BRCA1, ASCL1, UBC, EN1

Molecular functions related to 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:0051028.7GDNF, 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 Central Hypoventilation Syndrome

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Sources for 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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet