MCID: CNT048
MIFTS: 37

Central Hypoventilation Syndrome malady

Summaries for Central Hypoventilation Syndrome

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63Wikipedia, 46OMIM, 32MalaCards
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Wikipedia:63 Ondine\'s curse, also called congenital central hypoventilation syndrome (CCHS) or primary alveolar... more...

MalaCards: Central Hypoventilation Syndrome is related to hirschsprung's disease and central hypoventilation syndrome, congenital, with or without hirschsprung disease. An important gene associated with Central Hypoventilation Syndrome is GDNF (glial cell derived neurotrophic factor), 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 bq 3020 have been mentioned in the context of this disorder. Related mouse phenotypes are pigmentation and respiratory system.

Description from OMIM:46 209880

Aliases & Classifications for Central Hypoventilation Syndrome

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46OMIM
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Aliases & Descriptions:

central hypoventilation syndrome 46


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

(show top 50)    (show all 74)
idRelated DiseaseScoreTop Affiliating Genes
1hirschsprung's disease30.8GFRA1, RET, GDNF, EDN3, EDNRB, PHOX2B
2central hypoventilation syndrome, congenital, with or without hirschsprung disease30.7BDNF, RET, PHOX2B
3sudden infant death syndrome30.6EN1, TH, PHOX2B
4neuroblastoma30.4TH, BDNF, PHOX2B
5hypertension30.1EDNRB, TH
6congenital central hypoventilation syndrome11.3
7adult syndrome10.4
8cerebritis10.3
9central sleep apnea10.3
10image syndrome10.3
11rohhad10.3
12arts syndrome10.1
13neuronitis10.1
14hyperinsulinism10.1
15down syndrome10.1
16ganglioneuroma10.1
17encephalitis10.1
18esophagitis10.1
19ganglioneuroblastoma10.1
20hyperglycemia10.1
21influenza10.1
22learning disability10.1
23meningitis10.1
24pupil disease10.1
25congenital fiber-type disproportion10.1
26phaeochromocytoma10.0RET
27astrocytoma10.0GDNF
28exotropia10.0PHOX2A
29neuroepithelioma10.0GRP
30familial medullary thyroid carcinoma10.0GDNF
31attention deficit hyperactivity disorder10.0BDNF
32pituitary adenoma10.0GDNF, RET
33motor neuron disease10.0BDNF, GDNF
34waardenburg syndrome type 410.0EDNRB, RET, EDN3
35waardenburg's syndrome10.0EDNRB, RET, EDN3
36developmental disabilities10.0EDNRB, RET, BDNF
37colon adenocarcinoma10.0GRP
38glioblastoma multiforme10.0GDNF, GRP
39neonatal hypoxic and ischemic brain injury10.0BDNF, TH
40sarcoma10.0TH
41rett syndrome10.0BDNF, TH
42intestinal obstruction10.0EDNRB, RET, GDNF, EDN3
43glaucoma10.0BDNF, EDNRB, GDNF, RET
44adenocarcinoma10.0BDNF, EDNRB, ASCL1, GRP
45multiple endocrine neoplasia type 2a10.0GFRA1, RET, GDNF
46renal agenesis10.0GFRA1, RET, GDNF
47bipolar disorder10.0TH, BDNF
48multiple system atrophy10.0TH, GDNF
49multiple endocrine neoplasia10.0RET, TH, GDNF
50lung small cell carcinoma10.0GRP, ASCL1, EDNRB, GDNF

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



Diseases related to central hypoventilation syndrome

Clinical Features for Central Hypoventilation Syndrome

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46OMIM
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Clinical features from OMIM:

209880

Drugs & Therapeutics for Central Hypoventilation Syndrome

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

Search ClinicalTrials for Central Hypoventilation Syndrome

Search NIH Clinical Center for Central Hypoventilation Syndrome

Search CenterWatch for Central Hypoventilation Syndrome

Genetic Tests for Central Hypoventilation Syndrome

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Anatomical Context for Central Hypoventilation Syndrome

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Animal Models for Central Hypoventilation Syndrome or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Central Hypoventilation Syndrome:

36 (show all 12)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00011869.9EN1
2MP:00053888.8BDNF, TLX3, PHOX2A, PHOX2B, EDNRB, TH
3MP:00053818.4BDNF, TLX3, EDNRB, EDN3, GDNF, RET
4MP:00030128.4BDNF, PHOX2A, EDNRB, RET, TH, ASCL1
5MP:00107718.1BDNF, TLX3, EDNRB, EDN3, TH, EN1
6MP:00028738.0BDNF, PHOX2B, RET, GFRA1, TH, EN1
7MP:00053807.6TLX1, UBC, PHOX2B, EDNRB, EDN3, RET
8MP:00053787.2BDNF, UBC, PHOX2A, PHOX2B, EDNRB, GDNF
9MP:00053866.8EDNRB, PHOX2B, PHOX2A, TLX3, BDNF, EDN3
10MP:00053846.5PHOX2B, PHOX2A, UBC, TLX1, BDNF, EDNRB
11MP:00036316.4ASCL1, BDNF, TLX3, TLX1, PHOX2A, PHOX2B
12MP:00107686.3PHOX2B, PHOX2A, UBC, TLX3, BDNF, EDNRB

Publications for Central Hypoventilation Syndrome

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Genetic Variations for Central Hypoventilation Syndrome

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Central Hypoventilation Syndrome:

62
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

Expression for genes affiliated with 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 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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37NCBI BioSystems Database, 12EMD Millipore, 51QIAGEN
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Pathways related to Central Hypoventilation Syndrome according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.7GFRA1, RET, GDNF
2
G-protein signaling H-RAS regulation pathway
Hide members
9.7GDNF, RET, GFRA1
3
Hide members
9.4GFRA1, RET, GDNF, BDNF
47.8ASCL1, EN1, TH, RET, PHOX2B, PHOX2A

Compounds for genes affiliated with Central Hypoventilation Syndrome

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

(show top 50)    (show all 71)
idCompoundScoreTop Affiliating Genes
1glutamate4410.6GDNF
2bq 302044 2811.3EDN3, EDNRB
3bq6104410.3EDN3, EDNRB
4pd 1428934410.3EDN3, EDNRB
5propargylamine4410.2BDNF, GDNF
6sarafotoxin4410.2EDN3, EDNRB
7tezosentan4410.2EDN3, EDNRB
8irl 162044 2811.2EDNRB, EDN3
9fr13931744 2811.2EDN3, EDNRB
10bq78844 2811.2EDN3, EDNRB
11bq12344 2811.1EDN3, EDNRB
12dopac4410.1GDNF, TH, BDNF
133-nitropropionic acid4410.1TH, BDNF
141 methyl 4 phenylpyridinium4410.0BDNF, TH, GDNF
15selegiline44 1111.0GDNF, BDNF, TH
166-hydroxydopamine4410.0BDNF, GDNF, TH
17mptp449.9TH, GDNF, BDNF
18bosentan44 1110.9EDN3, EDNRB
19dbc-amp449.9GDNF, EDN3, BDNF
20catecholamine449.8GDNF, TH, RET, BDNF
21melatonin44 59 28 11 2413.8GDNF, EDNRB, BDNF
22levodopa44 1110.8TH, GDNF, EDN3, BDNF
23riluzole44 28 1111.7BDNF, GDNF
24phenylalanine449.6RET, BDNF, ASCL1, TH
25phosphoramidon44 1110.5GRP, EDN3, EDNRB
26capsaicin44 2810.4GDNF, GRP, BDNF
27amphetamine44 1110.4TH, GRP, GDNF
28aspartate449.2GDNF, BDNF, RET, EDNRB, EDN3, TH
29cocaine44 1110.2GDNF, GRP, BDNF, TH
30tetrodotoxin44 59 2811.2GRP, EDN3, BDNF, TH
31carbachol44 28 1111.1TH, BDNF, EDN3, GRP
32thapsigargin44 5910.1BDNF, EDN3, GRP, TH
33gaba449.1GRP, TH, GDNF, BDNF
34gnrh449.0GRP, BDNF, TH, EDN3
35indomethacin44 59 28 1112.0EDN3, EDNRB, BDNF, GRP
36nmda44 2810.0GRP, TH, BDNF
37choline44 11 2411.0RET, TH, GRP, BDNF, GDNF
38dexamethasone44 49 28 1111.9EDNRB, EDN3, GRP, TH, GDNF
39acetylcholine44 49 28 11 2412.7EDN3, GRP, GDNF, TH, EDNRB, BDNF
40histamine44 28 2410.6BDNF, TH, GRP, EDN3
41adenylate448.6EDNRB, GRP, GDNF, TH, BDNF, EDN3
42testosterone44 59 11 2411.6EDN3, RET, GRP, BDNF, TH
43cyclic amp44 249.5TH, RET, GDNF, BDNF, GRP, PHOX2B
44phosphatidylinositol448.4GRP, EDN3, EDNRB, BDNF, GDNF, RET
45alanine448.4GRP, PHOX2B, RET, TH, GDNF, EDN3
46vegf448.4BDNF, EDNRB, EDN3, GRP, GDNF, RET
47retinoic acid44 249.4GRP, RET, EDNRB, ASCL1, BDNF, TH
48norepinephrine44 11 2410.1EDNRB, TH, GDNF, GRP, BDNF, PHOX2A
49dopamine44 28 11 2411.1TH, BDNF, PHOX2A, PHOX2B, GDNF, EDN3
50tyrosine446.8GDNF, BDNF, ASCL1, TLX1, PHOX2A, EDNRB

GO Terms for genes affiliated with Central Hypoventilation Syndrome

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

(show all 17)
idNameGO IDScoreTop Affiliating Genes
1posterior midgut developmentGO:00749710.2RET, EDNRB
2noradrenergic neuron differentiationGO:00335710.1PHOX2B, PHOX2A
3vein smooth muscle contractionGO:01482610.1EDNRB, EDN3
4dopaminergic neuron differentiationGO:07154210.1PHOX2A, PHOX2B
5positive regulation of neuron differentiationGO:0456669.9ASCL1, PHOX2B, BDNF
6neuron fate specificationGO:0486659.9TLX3, ASCL1
7regulation of respiratory gaseous exchange by neurological system processGO:0020879.9TLX3, PHOX2B
8vasoconstrictionGO:0423109.9EDN3, EDNRB
9response to painGO:0482659.8EDNRB, RET
10negative regulation of neuron differentiationGO:0456659.8ASCL1, PHOX2B, TLX3
11enteric nervous system developmentGO:0484849.8RET, GDNF, EDNRB, PHOX2B
12neuron migrationGO:0017649.7TLX3, PHOX2B, ASCL1
13sympathetic nervous system developmentGO:0484859.7PHOX2A, PHOX2B, GDNF, ASCL1
14neural crest cell migrationGO:0017559.7RET, GDNF, EDN3, EDNRB
15cell surface receptor signaling pathwayGO:0071669.5GFRA1, EDN3, EDNRB
16pigmentationGO:0434739.2EN1, TH
17positive regulation of transcription from RNA polymerase II promoterGO:0459448.1TLX1, UBC, PHOX2A, PHOX2B, GDNF, 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:0009779.9PHOX2B, PHOX2A
2receptor bindingGO:0051028.5EDN3, GRP, GDNF, GFRA1
3sequence-specific DNA binding transcription factor activityGO:0037008.1ASCL1, EN1, PHOX2B, PHOX2A, 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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet