CCHS
MCID: CNT091
MIFTS: 49

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

Neuronal diseases, Fetal diseases categories

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

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21Genetics Home Reference, 46OMIM, 32MalaCards
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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 sudden infant death syndrome and central hypoventilation syndrome, 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 Transcription factors in neurogenesis 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 respiratory system and normal.

Description from OMIM:46 209880

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

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46OMIM, 48Orphanet, 57SNOMED-CT via Orphanet, 26ICD10 via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

48
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 46
congenital central alveolar hypoventilation - hirschsprung disease 48
congenital central alveolar hypoventilation syndrome 48
central congenital hypoventilation syndrome 48
ondine-hirschsprung syndrome 48
ondine-hirschsprung disease 48
haddad syndrome 48
ondine syndrome 48
ondine curse 48
cchs 48


External Ids:

SNOMED-CT via Orphanet57 399040002, 361208003
OMIM46 209880
ICD10 via Orphanet26 G47.3

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 46)
idRelated DiseaseScoreTop Affiliating Genes
1sudden infant death syndrome29.9PHOX2B
2central hypoventilation syndrome29.9GDNF
3hirschsprung's disease29.9EDN3, GDNF, PHOX2B, RET
4central nervous system teratoma10.3
521-hydroxylase deficiency10.2
6anterior spinal artery syndrome10.2
7congenital central hypoventilation syndrome10.2
8paraganglioma10.0RET
9astrocytoma10.0GDNF
10familial medullary thyroid carcinoma10.0GDNF
11phaeochromocytoma10.0RET
12thyroid cancer10.0RET
13status epilepticus10.0BDNF
14rett syndrome10.0BDNF
15neuroblastoma10.0BDNF, PHOX2B
16wilms tumor10.0BDNF, GDNF
17parkinson's disease10.0GDNF, BDNF
18developmental disabilities10.0BDNF, RET
19motor neuron disease10.0GDNF, BDNF
20multiple endocrine neoplasia type 2a10.0GDNF, RET
21mental retardation10.0BDNF, GDNF
22renal dysplasia10.0GDNF, RET
23neurofibromatosis10.0RET, GDNF
24pituitary adenoma10.0RET, GDNF
25temporal lobe epilepsy10.0BDNF, GDNF
26renal agenesis10.0GDNF, RET
27clear cell hidradenoma10.0
28nodular hidradenoma10.0
29hidradenoma10.0
30rohhad10.0
31neuroma10.0RET, GDNF
32mood disorder10.0GDNF, BDNF
33waardenburg syndrome type 410.0EDN3, RET
34waardenburg's syndrome10.0EDN3, RET
35schizophrenia10.0GDNF, BDNF
36carcinoid syndrome10.0RET, ASCL1
37prion disease10.0GDNF, BDNF
38pancreatic cancer10.0RET, GDNF
39huntington's disease10.0GDNF, BDNF
40thyroid medullary carcinoma10.0ASCL1, GDNF, RET
41neuroendocrine tumor10.0ASCL1, RET, GDNF
42glaucoma10.0RET, GDNF, BDNF
43brain ischemia10.0BDNF, GDNF
44intestinal obstruction10.0EDN3, GDNF, RET
45pheochromocytoma10.0ASCL1, RET, GDNF, EDN3
46adenoma10.0EDN3, RET, GDNF, ASCL1

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

Clinical Features for Central Hypoventilation Syndrome, Congenital, with or Without...

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46OMIM, 48Orphanet
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Clinical features from OMIM:

209880

Clinical synopsis from OMIM:

209880

Symptoms:

48 (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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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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

Search CenterWatch 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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32MalaCards
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MalaCards organs/tissues related to Central Hypoventilation Syndrome, Congenital, with or Without Hirschsprung Disease:

32
Lung

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

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36MGI
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MGI Mouse Phenotypes related to Central Hypoventilation Syndrome, Congenital, with or Without Hirschsprung Disease:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053888.6BDNF, PHOX2B, RET, ASCL1
2MP:00028738.6ASCL1, RET, PHOX2B, BDNF
3MP:00053818.0RET, GDNF, EDN3, BDNF
4MP:00053847.8BDNF, PHOX2B, GDNF, RET, ASCL1
5MP:00053787.6BDNF, PHOX2B, GDNF, RET, ASCL1
6MP:00053867.3ASCL1, RET, GDNF, EDN3, PHOX2B, BDNF
7MP:00036317.3BDNF, PHOX2B, EDN3, GDNF, RET, ASCL1
8MP:00107687.2BDNF, PHOX2B, EDN3, GDNF, RET, ASCL1

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

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

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Central Hypoventilation Syndrome, Congenital, with or Without Hirschsprung Disease:

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, Congenital, with or Without...

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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, 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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12EMD Millipore, 37NCBI BioSystems Database, 51QIAGEN
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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
19.6ASCL1, PHOX2B
29.6ASCL1, PHOX2B
39.3RET, GDNF
4
G-protein signaling H-RAS regulation pathway
Hide members
9.3GDNF, RET
5
Hide members
8.8RET, GDNF, BDNF
68.6ASCL1, RET, PHOX2B, BDNF

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

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44Novoseek, 28IUPHAR, 11DrugBank, 59Tocris Bioscience, 24HMDB, 49PharmGKB
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Compounds related to Central Hypoventilation Syndrome, Congenital, with or Without Hirschsprung Disease according to GeneCards/GeneDecks:

(show all 37)
idCompoundScoreTop Affiliating Genes
1propargylamine449.7GDNF, BDNF
2riluzole44 28 1111.7BDNF, GDNF
3dopac449.7GDNF, BDNF
4rasagiline44 1110.7BDNF, GDNF
51 methyl 4 phenylpyridinium449.7GDNF, BDNF
6selegiline44 1110.7GDNF, BDNF
76-hydroxydopamine449.5GDNF, BDNF
8mptp449.5BDNF, GDNF
9capsaicin44 2810.4GDNF, BDNF
10phenylalanine449.3ASCL1, RET, BDNF
11catecholamine449.2BDNF, GDNF, RET
12tetrodotoxin44 59 2811.2BDNF, EDN3
13choline44 11 2411.2RET, GDNF, BDNF
14pd 98,059449.1BDNF, GDNF, RET
15ly294002449.1RET, GDNF, BDNF
16wortmannin449.1RET, GDNF, BDNF
17melatonin44 59 28 11 2413.0GDNF, BDNF
18methionine448.9BDNF, EDN3, RET
19dbc-amp448.9BDNF, EDN3, GDNF
20levodopa44 119.9GDNF, EDN3, BDNF
21lysine448.9BDNF, EDN3, ASCL1
22acetylcholine44 49 28 11 2412.8GDNF, EDN3, BDNF
23potassium44 11 2410.7BDNF, EDN3, GDNF
24phosphoinositide448.7GDNF, EDN3, BDNF
25retinoic acid44 249.7BDNF, GDNF, RET, ASCL1
26testosterone44 59 11 2411.6RET, EDN3, BDNF
27adenylate448.5GDNF, EDN3, BDNF
28norepinephrine44 11 2410.5GDNF, EDN3, PHOX2B, BDNF
29alanine448.4PHOX2B, EDN3, GDNF, RET
30aspartate448.4RET, GDNF, EDN3, BDNF
31vegf448.3RET, GDNF, EDN3, BDNF
32phosphatidylinositol448.3BDNF, EDN3, GDNF, RET
33atp44 289.3BDNF, EDN3, GDNF, RET
34cyclic amp44 249.0BDNF, PHOX2B, EDN3, GDNF, RET
35serine447.9BDNF, EDN3, GDNF, RET
36dopamine44 28 11 2410.5ASCL1, RET, GDNF, EDN3, PHOX2B, BDNF
37tyrosine447.5BDNF, PHOX2B, EDN3, GDNF, RET, ASCL1

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 8)
idNameGO IDScoreTop Affiliating Genes
1inner ear developmentGO:0488399.5PHOX2B, BDNF
2ureteric bud developmentGO:0016579.3RET, BDNF
3negative regulation of neuron apoptotic processGO:0435249.3GDNF, BDNF
4negative regulation of neuron differentiationGO:0456659.3ASCL1, PHOX2B
5positive regulation of neuron differentiationGO:0456669.2BDNF, PHOX2B, ASCL1
6sympathetic nervous system developmentGO:0484859.1PHOX2B, GDNF, ASCL1
7enteric nervous system developmentGO:0484849.1RET, GDNF, PHOX2B
8neural crest cell migrationGO:0017558.6RET, GDNF, EDN3

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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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