CCHS
MCID: CNT091
MIFTS: 48

Central Hypoventilation Syndrome, Congenital, with or Without Hirschsprung Disease (CCHS) malady

Genetic diseases, Neuronal diseases, Fetal diseases, Rare diseases categories
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Summaries for Central Hypoventilation Syndrome, Congenital, with or Without...

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21Genetics Home Reference, 47OMIM, 33MalaCards
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Genetics Home Reference:21 Congenital central hypoventilation syndrome (CCHS) is a disorder that affects breathing. People with this disorder take shallow breaths (hypoventilate), especially during sleep, resulting in a shortage of oxygen and a buildup of carbon dioxide in the blood. Ordinarily, the part of the nervous system that controls involuntary body processes (autonomic nervous system) would react to such an imbalance by stimulating the individual to breathe more deeply or wake up. This reaction is impaired in people with CCHS, and they must be supported with a machine to help them breathe (mechanical ventilation) or a device that stimulates a normal breathing pattern (diaphragm pacemaker). Some affected individuals need this support 24 hours a day, while others need it only at night.

MalaCards: Central Hypoventilation Syndrome, Congenital, with or Without Hirschsprung Disease, also known as congenital central alveolar hypoventilation - hirschsprung disease, is related to central hypoventilation syndrome and hirschsprung's disease, and has symptoms including failure to thrive/difficulties for feeding in infancy/growth delay, gastroesophageal reflux/pyrosis/esophagitis/hiatal hernia/gastroparesia and hypotonia. An important gene associated with Central Hypoventilation Syndrome, Congenital, with or Without Hirschsprung Disease is PHOX2B (paired-like homeobox 2b), and among its related pathways are Spinal Cord Injury and Neural Crest Differentiation. The compounds propargylamine and riluzole have been mentioned in the context of this disorder. Affiliated tissues include lung, and related mouse phenotypes are taste/olfaction and respiratory system.

Description from OMIM:47 209880

Aliases & Classifications for Central Hypoventilation Syndrome, Congenital, with or Without...

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49Orphanet, 47OMIM, 63UMLS via Orphanet, 59SNOMED-CT via Orphanet, 26ICD10 via Orphanet, 36MESH via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

49
congenital central alveolar hypoventilation syndrome:
Inheritance: Autosomal dominant,Sporadic; Age of onset: Neonatal/infancy; Age of death: Normal
congenital central alveolar hypoventilation - hirschsprung disease:
Inheritance: Autosomal dominant,Multigenic/multifactorial; Prevalence: <1/1000000; Age of onset: Neonatal/infancy


Aliases & Descriptions:

central hypoventilation syndrome, congenital, with or without hirschsprung disease 47
congenital central alveolar hypoventilation - hirschsprung disease 49
congenital central alveolar hypoventilation syndrome 49
central congenital hypoventilation syndrome 49
ondine-hirschsprung syndrome 49
ondine-hirschsprung disease 49
ondine syndrome 49
haddad syndrome 49
ondine curse 49
cchs 49


External Ids:

UMLS via Orphanet63 C1275808, C1859587
SNOMED-CT via Orphanet59 399040002, 361208003
OMIM47 209880
ICD10 via Orphanet26 G47.3
MESH via Orphanet36 C536209

Related Diseases for Central Hypoventilation Syndrome, Congenital, with or Without...

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17GeneCards, 18GeneDecks
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Diseases related to Central Hypoventilation Syndrome, Congenital, with or Without Hirschsprung Disease via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 44)
idRelated DiseaseScoreTop Affiliating Genes
1central hypoventilation syndrome30.8GDNF
2hirschsprung's disease29.9GDNF, PHOX2B, EDN3, RET
3congenital central hypoventilation syndrome10.5
4anterior spinal artery syndrome10.3
521-hydroxylase deficiency10.3
6central nervous system teratoma10.1
7familial medullary thyroid carcinoma10.1GDNF
8neuroblastoma10.1BDNF, PHOX2B
9brain ischemia10.0BDNF, GDNF
10temporal lobe epilepsy10.0BDNF, GDNF
11motor neuron disease10.0BDNF, GDNF
12renal dysplasia10.0GDNF, RET
13neuroma10.0GDNF, RET
14multiple endocrine neoplasia type 2a10.0RET, GDNF
15developmental disabilities10.0RET, BDNF
16renal agenesis10.0GDNF, RET
17multiple endocrine neoplasia10.0RET, GDNF
18toxic encephalopathy10.0GDNF, BDNF
19neurofibromatosis10.0GDNF, RET
20stroke, ischemic10.0BDNF, GDNF
21mood disorder10.0GDNF, BDNF
22prion disease10.0BDNF, GDNF
23pancreatic cancer10.0GDNF, RET
24huntington's disease10.0BDNF, GDNF
25clear cell hidradenoma10.0
26nodular hidradenoma10.0
27sudden infant death syndrome10.0
28hidradenoma10.0
29rohhad10.0
30teratocarcinoma10.0ASCL1, GDNF
31waardenburg syndrome type 410.0EDN3, RET
32pituitary adenoma10.0GDNF, RET
33wilms tumor10.0GDNF, BDNF
34amyotrophic lateral sclerosis10.0BDNF, GDNF
35waardenburg's syndrome10.0EDN3, RET
36carcinoid syndrome10.0ASCL1, RET
37parkinson's disease10.0GDNF, BDNF
38glaucoma10.0RET, GDNF, BDNF
39thyroid medullary carcinoma10.0ASCL1, RET, GDNF
40neuroendocrine tumor10.0ASCL1, GDNF, RET
41bipolar disorder10.0GDNF, BDNF
42intestinal obstruction10.0RET, GDNF, EDN3
43pheochromocytoma9.9GDNF, ASCL1, RET, EDN3
44adenoma9.9ASCL1, EDN3, GDNF, RET

Graphical network of the top 20 diseases related to Central Hypoventilation Syndrome, Congenital, with or Without Hirschsprung Disease:



Diseases related to central hypoventilation syndrome, congenital, with or without hirschsprung disease

Symptoms for Central Hypoventilation Syndrome, Congenital, with or Without...

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47OMIM, 49Orphanet
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Symptoms by clinical synopsis from OMIM:

209880

Clinical features from OMIM:

209880

Symptoms:

49 (show all 21)
  • failure to thrive/difficulties for feeding in infancy/growth delay
  • gastroesophageal reflux/pyrosis/esophagitis/hiatal hernia/gastroparesia
  • hypotonia
  • seizures/epilepsy/absences/spasms/status epilepticus
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • death in infancy
  • sensorineural deafness/hearing loss
  • neuroblastoma
  • oligoamnios
  • polyhydramnios
  • fetal immobility/abnormal fetal movements
  • short stature/dwarfism/nanism
  • autosomal dominant inheritance
  • dysautonomia/autonomous nervous sytem anomalies
  • respiratory distress/dyspnea/respiratory failure/lung volume reduction
  • stillbirth/neonatal death
  • central nervous system/peripheral nerves neoplasm/tumor/carcinoma/cancer
  • strabismus/squint
  • dolichocolon/megacolon/megadolichocolon/hirschsprung's disease
  • respiratory rhythm disorder
  • apnea/sleep apnea

Drugs & Therapeutics for Central Hypoventilation Syndrome, Congenital, with or Without...

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42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

Search ClinicalTrials for Central Hypoventilation Syndrome, Congenital, with or Without Hirschsprung Disease

Search NIH Clinical Center for Central Hypoventilation Syndrome, Congenital, with or Without Hirschsprung Disease

Genetic Tests for Central Hypoventilation Syndrome, Congenital, with or Without...

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Anatomical Context for Central Hypoventilation Syndrome, Congenital, with or Without...

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33MalaCards
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MalaCards organs/tissues related to Central Hypoventilation Syndrome, Congenital, with or Without Hirschsprung Disease:

33
Lung

Animal Models for Central Hypoventilation Syndrome, Congenital, with or Without... or affiliated genes

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37MGI
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MGI Mouse Phenotypes related to Central Hypoventilation Syndrome, Congenital, with or Without Hirschsprung Disease:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053949.4BDNF, ASCL1
2MP:00053888.5BDNF, PHOX2B, RET, ASCL1
3MP:00028738.2BDNF, PHOX2B, RET, ASCL1
4MP:00053818.2GDNF, EDN3, RET, BDNF
5MP:00053848.1GDNF, ASCL1, RET, PHOX2B, BDNF
6MP:00053787.8GDNF, ASCL1, RET, PHOX2B, BDNF
7MP:00053867.3BDNF, PHOX2B, RET, ASCL1, EDN3, GDNF
8MP:00036317.3GDNF, EDN3, ASCL1, RET, PHOX2B, BDNF
9MP:00107687.3GDNF, EDN3, ASCL1, RET, PHOX2B, BDNF

Publications for Central Hypoventilation Syndrome, Congenital, with or Without...

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Variations for Central Hypoventilation Syndrome, Congenital, with or Without...

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Sources:
64UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 7dbSNP
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UniProtKB/Swiss-Prot genetic disease variations for Central Hypoventilation Syndrome, Congenital, with or Without Hirschsprung Disease:

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, Congenital, with or Without Hirschsprung Disease:

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 Central Hypoventilation Syndrome, Congenital, with or Without...

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2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Central Hypoventilation Syndrome, Congenital, with or Without Hirschsprung Disease

Search GEO for disease gene expression data for Central Hypoventilation Syndrome, Congenital, with or Without Hirschsprung Disease.

Pathways for genes affiliated with Central Hypoventilation Syndrome, Congenital, with or Without...

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Sources:
50PathCards, 38NCBI BioSystems Database, 12EMD Millipore, 60Thomson Reuters, 53QIAGEN, 55Reactome
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Pathways related to Central Hypoventilation Syndrome, Congenital, with or Without Hirschsprung Disease according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.5BDNF, GDNF
29.4PHOX2B, ASCL1
39.4PHOX2B, ASCL1
49.4RET, GDNF
59.4GDNF, RET
6
Show member pathways
Development ERBB family signaling60
Development GDNF family signaling60
9.0BDNF, RET, GDNF
78.5BDNF, PHOX2B, RET, ASCL1

Compounds for genes affiliated with Central Hypoventilation Syndrome, Congenital, with or Without...

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Sources:
45Novoseek, 29IUPHAR, 11DrugBank, 61Tocris Bioscience, 24HMDB, 51PharmGKB
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Compounds related to Central Hypoventilation Syndrome, Congenital, with or Without Hirschsprung Disease according to GeneCards/GeneDecks:

(show all 48)
idCompoundScoreTop Affiliating Genes
1propargylamine459.9GDNF, BDNF
2riluzole45 29 1111.9BDNF, GDNF
3dopac459.9BDNF, GDNF
4rasagiline45 1110.9BDNF, GDNF
51 methyl 4 phenylpyridinium459.9BDNF, GDNF
6selegiline45 1110.9BDNF, GDNF
76-hydroxydopamine459.8GDNF, BDNF
8mptp459.8BDNF, GDNF
9capsaicin45 2910.8GDNF, BDNF
10melatonin45 29 61 24 1113.8BDNF, GDNF
11kainate45 2910.7BDNF, GDNF
12cocaine45 1110.6GDNF, BDNF
13bromodeoxyuridine459.5BDNF, GDNF
14tetrodotoxin45 61 2911.5BDNF, EDN3
15heparan sulfate45 2410.4RET, GDNF
16catecholamine459.4BDNF, RET, GDNF
17choline45 24 1111.4BDNF, RET, GDNF
18pd 98,059459.3BDNF, RET, GDNF
19ly294002459.3GDNF, RET, BDNF
20wortmannin459.3BDNF, RET, GDNF
21nifedipine45 29 51 1112.3BDNF, EDN3
22phenylalanine459.3BDNF, RET, ASCL1
23dbc-amp459.1BDNF, EDN3, GDNF
24levodopa45 1110.1GDNF, EDN3, BDNF
25carbachol45 29 1111.1BDNF, EDN3
26methionine459.1EDN3, RET, BDNF
27acetylcholine45 51 29 24 1113.0GDNF, EDN3, BDNF
28potassium45 24 1111.0BDNF, EDN3, GDNF
29phosphoinositide459.0GDNF, EDN3, BDNF
30adenylate459.0BDNF, EDN3, GDNF
31testosterone45 61 24 1111.9BDNF, RET, EDN3
32lysine458.9BDNF, ASCL1, EDN3
33inositol 1,4,5 trisphosphate458.9BDNF, EDN3
34zinc45 249.9BDNF, EDN3, GDNF
35oligonucleotide458.8GDNF, EDN3, RET
36glutamate458.8BDNF, EDN3, GDNF
37retinoic acid45 249.7GDNF, ASCL1, RET, BDNF
38norepinephrine45 24 1110.7GDNF, EDN3, PHOX2B, BDNF
39alanine458.6GDNF, EDN3, RET, PHOX2B
40aspartate458.6GDNF, EDN3, RET, BDNF
41vegf458.6GDNF, EDN3, RET, BDNF
42phosphatidylinositol458.6GDNF, EDN3, RET, BDNF
43atp45 299.5BDNF, RET, EDN3, GDNF
44serine458.5GDNF, EDN3, RET, BDNF
45calcium45 51 24 1111.3GDNF, EDN3, RET, BDNF
46cyclic amp45 249.2GDNF, EDN3, RET, PHOX2B, BDNF
47dopamine45 29 24 1110.6BDNF, PHOX2B, RET, ASCL1, EDN3, GDNF
48tyrosine457.6GDNF, EDN3, ASCL1, RET, PHOX2B, BDNF

GO Terms for genes affiliated with Central Hypoventilation Syndrome, Congenital, with or Without...

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16Gene Ontology
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Biological processes related to Central Hypoventilation Syndrome, Congenital, with or Without Hirschsprung Disease according to GeneCards/GeneDecks:

(show all 14)
idNameGO IDScoreTop Affiliating Genes
1inner ear developmentGO:0488399.8BDNF, PHOX2B
2noradrenergic neuron developmentGO:0033589.7PHOX2B, ASCL1
3ureteric bud developmentGO:0016579.7RET, BDNF
4sympathetic ganglion developmentGO:0615499.6PHOX2B, ASCL1
5negative regulation of neuron differentiationGO:0456659.6PHOX2B, ASCL1
6regulation of gene expressionGO:0104689.5PHOX2B, ASCL1
7neuron migrationGO:0017649.4ASCL1, PHOX2B
8enteric nervous system developmentGO:0484849.3PHOX2B, RET, GDNF
9positive regulation of neuron differentiationGO:0456669.2BDNF, PHOX2B, ASCL1
10negative regulation of neuron apoptotic processGO:0435249.2BDNF, GDNF
11sympathetic nervous system developmentGO:0484859.2PHOX2B, ASCL1, GDNF
12neural crest cell migrationGO:0017558.9GDNF, EDN3, RET
13positive regulation of transcription from RNA polymerase II promoterGO:0459448.8PHOX2B, ASCL1, GDNF
14signal transductionGO:0071658.6RET, EDN3, GDNF

Molecular functions related to Central Hypoventilation Syndrome, Congenital, with or Without Hirschsprung Disease according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1growth factor activityGO:0080839.5BDNF, GDNF

Products for genes affiliated with Central Hypoventilation Syndrome, Congenital, with or Without...

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Sources for Central Hypoventilation Syndrome, Congenital, with or Without...

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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