CCHS
MCID: CNG042
MIFTS: 55

Congenital Central Hypoventilation Syndrome (CCHS) malady

Summaries for Congenital Central Hypoventilation Syndrome

Sources:
43NIH Rare Diseases, 64Wikipedia, 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 hirschsprung's disease. An important gene associated with Congenital Central Hypoventilation Syndrome is ASCL1 (achaete-scute complex homolog 1 (Drosophila)), and among its related pathways are G-protein signaling H-RAS regulation pathway and Signaling events regulated by Ret tyrosine kinase. The compounds glutamate and pd 142893 have been mentioned in the context of this disorder. Affiliated tissues include skin, brain and cerebellum, and related mouse phenotypes are pigmentation and respiratory system.

Wikipedia:64 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

Sources:
19GeneReviews, 43NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 47OMIM, 61UMLS, 45Novoseek
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Aliases & Descriptions:

congenital central hypoventilation syndrome 19 43 20 22 21
haddad syndrome 21 47 61
central hypoventilation syndrome, congenital 47 45
congenital failure of autonomic control 43 21
congenital central hypoventilation 21 61
ondine-hirschsprung disease 21 61
cchs 43 21
idiopathic congenital central alveolar hypoventilation 43
sleep-related respiratory failure 61
congenital ondine curse 43
sleep apnea, central 61
ondine syndrome 21
ondine curse 43


Related Diseases for Congenital Central Hypoventilation Syndrome

Sources:
17GeneCards, 18GeneDecks
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Diseases in the central hypoventilation syndrome, congenital, with or without hirschsprung disease family:

congenital central hypoventilation syndrome 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 63)
idRelated DiseaseScoreTop Affiliating Genes
1central hypoventilation syndrome32.0GDNF
2hirschsprung's disease31.1PHOX2B, EDN3, GDNF, RET, GFRA1, EDNRB
3sudden infant death syndrome30.8EN1, PHOX2B
4central hypoventilation syndrome, congenital, with or without hirschsprung disease30.7PHOX2B, RET, BDNF
5n syndrome11.0
6adult syndrome10.6
7autonomic dysfunction10.5
8char syndrome10.4
9young syndrome10.4
1021-hydroxylase deficiency10.3
11anterior spinal artery syndrome10.2
12central sleep apnea10.2
13hyperinsulinism10.2
14ganglioneuroma10.2
15congenital fiber-type disproportion10.2
16short syndrome10.2
17bod syndrome10.2
18rohhad10.2
19image syndrome10.2
20brain injury10.2
21central cord syndrome10.2
22hypoxia10.2
23sleep apnea10.2
24conotruncal heart malformations, variable10.1
25clear cell hidradenoma10.0
26nodular hidradenoma10.0
27phaeochromocytoma10.0RET
28neuroblastoma10.0BDNF, PHOX2B
29astrocytoma10.0GDNF
30exotropia10.0PHOX2A
31thyroid cancer10.0RET
32familial medullary thyroid carcinoma10.0GDNF
33neuroepithelioma10.0GRP
34hypertension10.0EDNRB
35motor neuron disease10.0BDNF, GDNF
36pituitary adenoma10.0GDNF, RET
37wilms tumor10.0BDNF, GDNF
38multiple endocrine neoplasia10.0RET, GDNF
39mental retardation10.0BDNF, GDNF
40paraganglioma10.0RET, GRP
41alzheimer's disease10.0GDNF, BDNF
42developmental disabilities10.0BDNF, EDNRB, RET
43waardenburg syndrome type 410.0RET, EDNRB, EDN3
44waardenburg's syndrome10.0EDNRB, RET, EDN3
45amyotrophic lateral sclerosis10.0BDNF, GDNF
46schizophrenia10.0GDNF, BDNF
47carcinoid syndrome10.0GRP, RET, ASCL1
48glioblastoma multiforme10.0GDNF, GRP
49lung cancer10.0GRP, ASCL1
50glaucoma10.0EDNRB, GDNF, RET, BDNF

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



Diseases related to congenital central hypoventilation syndrome

Clinical Features for Congenital Central Hypoventilation Syndrome

Sources:
47OMIM
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Clinical features from OMIM:

209880

Drugs & Therapeutics for Congenital Central Hypoventilation Syndrome

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
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Approved drugs:

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Drug clinical trials:

Search ClinicalTrials for Congenital Central Hypoventilation Syndrome

Search NIH Clinical Center for Congenital Central Hypoventilation Syndrome

Search CenterWatch for Congenital Central Hypoventilation Syndrome

Genetic Tests for Congenital Central Hypoventilation Syndrome

Sources:
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

Sources:
33MalaCards
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MalaCards organs/tissues related to Congenital Central Hypoventilation Syndrome:

33
Skin, Brain, Cerebellum, Heart, Small intestine, Breast, Fetal brain, Ciliary ganglion

Animal Models for Congenital Central Hypoventilation Syndrome or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
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Publications for Congenital Central Hypoventilation Syndrome

Sources:
51PubMed
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Articles related to Congenital Central Hypoventilation Syndrome:

(show top 50)    (show all 201)
idTitleAuthorsYear
1
Peripheral chemoreceptors in congenital central hypoventilation syndrome. (23099221)
2013
2
An unusual cause of fetal hypomobility:congenital central hypoventilation syndrome associated with hirschsprung disease. (24135798)
2013
3
Transcriptional dysregulation and impairment of PHOX2B auto-regulatory mechanism induced by polyalanine expansion mutations associated with congenital central hypoventilation syndrome. (23103552)
2013
4
PHOX2B Mutation in a Taiwanese Newborn with Congenital Central Hypoventilation Syndrome. (23597545)
2013
5
Diagnostic practices and disease surveillance in Canadian children with congenital central hypoventilation syndrome. (23762885)
2013
6
Vocal cord collapse during phrenic nerve-paced respiration in congenital central hypoventilation syndrome. (24358809)
2012
7
Case reports of congenital central hypoventilation syndrome. (22564311)
2012
8
Selectively diminished corpus callosum fibers in congenital central hypoventilation syndrome. (21256194)
2011
9
An unusual presentation of congenital central hypoventilation syndrome (Ondine's Curse). (20304901)
2010
10
Phox2b, congenital central hypoventilation syndrome and the control of respiration. (20691277)
2010
11
Congenital central hypoventilation syndrome: neurocognitive functioning in school age children. (19960523)
2010
12
Rostral brain axonal injury in congenital central hypoventilation syndrome. (20209631)
2010
13
An official ATS clinical policy statement: Congenital central hypoventilation syndrome: genetic basis, diagnosis, and management. (20208042)
2010
14
PHOX2B in respiratory control: lessons from congenital central hypoventilation syndrome and its mouse models. (19712905)
2009
15
Congenital central hypoventilation syndrome from past to future: model for translational and transitional autonomic medicine. (19422034)
2009
16
Later-onset congenital central hypoventilation syndrome due to a heterozygous 24-polyalanine repeat expansion mutation in the PHOX2B gene. (18798833)
2009
17
PHOX2B mutation-confirmed congenital central hypoventilation syndrome in a Chinese family: presentation from newborn to adulthood. (19201717)
2009
18
Sudden death in congenital central hypoventilation syndrome. (19009617)
2008
19
Diffusion tensor imaging demonstrates brainstem and cerebellar abnormalities in congenital central hypoventilation syndrome. (18458651)
2008
20
Congenital central hypoventilation syndrome (CCHS) and sudden infant death syndrome (SIDS): kindred disorders of autonomic regulation. (18579454)
2008
21
Parental origin and somatic mosaicism of PHOX2B mutations in Congenital Central Hypoventilation Syndrome. (18157832)
2008
22
Structural abnormalities in the brainstem and cerebellum in congenital central hypoventilation syndrome: commentary on the article by Kumar et al. on page 275. (18714200)
2008
23
Characterization of dermatoglyphics in PHOX2B-confirmed congenital central hypoventilation syndrome. (16882781)
2006
24
Cardiac pacing in a patient with diaphragm pacing for congenital central hypoventilation syndrome (Ondine's curse). (16836681)
2006
25
Congenital central hypoventilation syndrome and Hirschsprung's disease in an extremely preterm infant. (15930201)
2005
26
PHOX2B genotype allows for prediction of tumor risk in congenital central hypoventilation syndrome. (15657873)
2005
27
Cardiovascular abnormalities and arrhythmias in patients with Ondine's curse (congenital central hypoventilation) syndrome. (16359292)
2005
28
Cardio-respiratory Uncoupling in Congenital Central Hypoventilation Syndrome. (17281214)
2005
29
Distinct pathogenetic mechanisms for PHOX2B associated polyalanine expansions and frameshift mutations in congenital central hypoventilation syndrome. (15888479)
2005
30
Hypercapnic exposure in congenital central hypoventilation syndrome reveals CNS respiratory control mechanisms. (15525806)
2005
31
fMRI signal changes in response to forced expiratory loading in congenital central hypoventilation syndrome. (15258126)
2004
32
Long-term survival of a patient with congenital central hypoventilation syndrome despite the lack of continuous ventilatory support. (15031579)
2004
33
Congenital central hypoventilation syndrome: not just another rare disorder. (15276129)
2004
34
Temporal trends of cardiac and respiratory responses to ventilatory challenges in congenital central hypoventilation syndrome. (15028846)
2004
35
24-hour BP in children with congenital central hypoventilation syndrome. (14555571)
2003
36
Haddad syndrome--congenital central hypoventilation associated with Hirschsprung's disease. (12940386)
2003
37
Global BOLD MRI changes to ventilatory challenges in congenital central hypoventilation syndrome. (14637309)
2003
38
Idiopathic congenital central hypoventilation syndrome: analysis of genes pertinent to early autonomic nervous system embryologic development and identification of mutations in PHOX2b. (14608649)
2003
39
Idiopathic congenital central hypoventilation syndrome: the next generation. (12239719)
2002
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
Ventilatory responses to passive leg motion in children with congenital central hypoventilation syndrome. (8564130)
1996
44
Congenital central hypoventilation syndrome: inheritance and relation to sudden infant death syndrome. (8135282)
1993
45
Ventilatory response to exercise in children with congenital central hypoventilation syndrome. (8484629)
1993
46
Heart rate variability in congenital central hypoventilation syndrome. (1561018)
1992
47
Hypercapneic arousal responses in children with congenital central hypoventilation syndrome. (1945641)
1991
48
Medical and psychosocial outcome of children with congenital central hypoventilation syndrome. (1720457)
1991
49
Congenital central hypoventilation syndrome associated with multiple ganglioneuromas. (2752827)
1989
50
Respiratory and nonrespiratory effects of doxapram in congenital central hypoventilation syndrome. (434598)
1979

Genetic Variations for Congenital Central Hypoventilation Syndrome

Expression for genes affiliated with Congenital Central Hypoventilation Syndrome

Sources:
1BioGPS, 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

Sources:
12EMD Millipore, 38NCBI BioSystems Database, 52QIAGEN
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Pathways related to Congenital Central Hypoventilation Syndrome according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
G-protein signaling H-RAS regulation pathway
Hide members
9.5GDNF, RET, GFRA1
29.5GFRA1, RET, GDNF
3
Hide members
9.3GFRA1, RET, GDNF, BDNF
48.1ASCL1, EN1, RET, PHOX2B, PHOX2A, TLX3

Compounds for genes affiliated with Congenital Central Hypoventilation Syndrome

Sources:
45Novoseek, 29IUPHAR, 11DrugBank, 60Tocris Bioscience, 24HMDB, 50PharmGKB
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Compounds related to Congenital Central Hypoventilation Syndrome according to GeneCards/GeneDecks:

(show all 50)
idCompoundScoreTop Affiliating Genes
1glutamate4510.4GDNF
2pd 1428934510.3EDNRB, EDN3
3bq6104510.3EDNRB, EDN3
4bq 302045 2911.3EDNRB, EDN3
5tezosentan4510.3EDNRB, EDN3
6irl 162045 2911.3EDNRB, EDN3
7fr13931745 2911.3EDNRB, EDN3
8sarafotoxin4510.3EDNRB, EDN3
9bq78845 2911.3EDN3, EDNRB
10bq12345 2911.3EDNRB, EDN3
11propargylamine4510.3GDNF, BDNF
12bosentan45 1111.2EDNRB, EDN3
13riluzole45 29 1112.2BDNF, GDNF
14dopac4510.2GDNF, BDNF
15rasagiline45 1111.1GDNF, BDNF
161 methyl 4 phenylpyridinium4510.0GDNF, BDNF
17dbc-amp4510.0GDNF, EDN3, BDNF
18levodopa45 1111.0GDNF, EDN3, BDNF
19catecholamine459.9RET, GDNF, BDNF
20melatonin45 60 29 11 2413.9BDNF, EDNRB, GDNF
21selegiline45 1110.9GDNF, BDNF
22bromodeoxyuridine459.7BDNF, GDNF, GFRA1
23potassium45 11 2411.6BDNF, EDNRB, EDN3, GDNF
24lysine459.6BDNF, EDNRB, EDN3, ASCL1
25heparan sulfate45 2410.5GFRA1, RET, GDNF
26tetrodotoxin45 60 2911.5GRP, EDN3, BDNF
27phosphoramidon45 1110.5EDNRB, EDN3, GRP
28aspartate459.5BDNF, EDNRB, EDN3, GDNF, RET
29capsaicin45 2910.4BDNF, GRP, GDNF
30nifedipine45 50 29 1112.4BDNF, EDN3, GRP
31carbachol45 29 1111.3BDNF, EDN3, GRP
32cocaine45 1110.3GDNF, GRP, BDNF
33choline45 11 2411.2RET, GDNF, GRP, BDNF
34inositol 1,4,5 trisphosphate459.2BDNF, EDN3, GRP
35indomethacin45 60 29 1112.2BDNF, EDNRB, EDN3, GRP
36wortmannin459.1BDNF, GRP, GDNF, RET
37phosphoinositide459.1BDNF, EDN3, GRP, GDNF
38acetylcholine45 50 29 11 2412.9GDNF, GRP, EDN3, EDNRB, BDNF
39adenylate458.9BDNF, EDNRB, EDN3, GRP, GDNF
40thapsigargin45 609.8GRP, EDN3, BDNF
41cyclic amp45 249.7BDNF, PHOX2B, EDN3, GRP, GDNF, RET
42retinoic acid45 249.7BDNF, EDNRB, GRP, GDNF, RET, ASCL1
43vegf458.7BDNF, EDNRB, EDN3, GRP, GDNF, RET
44alanine458.6PHOX2B, EDNRB, EDN3, GRP, GDNF, RET
45dexamethasone45 50 29 1111.5UBC, EDNRB, EDN3, GRP, GDNF
46norepinephrine45 11 2410.3BDNF, PHOX2A, PHOX2B, EDNRB, EDN3, GRP
47phosphatidylinositol458.3BDNF, EDNRB, EDN3, GRP, GDNF, RET
48serine458.1BDNF, EDNRB, EDN3, GRP, GDNF, RET
49dopamine45 29 11 2410.8ASCL1, BDNF, PHOX2A, PHOX2B, EDN3, GRP
50tyrosine457.0BDNF, TLX1, PHOX2A, PHOX2B, EDNRB, EDN3

GO Terms for genes affiliated with Congenital Central Hypoventilation Syndrome

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

(show all 18)
idNameGO IDScoreTop Affiliating Genes
1posterior midgut developmentGO:00749710.2EDNRB, RET
2vein smooth muscle contractionGO:01482610.1EDNRB, EDN3
3noradrenergic neuron differentiationGO:00335710.1PHOX2B, PHOX2A
4dopaminergic neuron differentiationGO:07154210.0PHOX2B, PHOX2A
5neuron fate specificationGO:04866510.0TLX3, ASCL1
6vasoconstrictionGO:04231010.0EDNRB, EDN3
7positive regulation of neuron differentiationGO:0456669.9BDNF, ASCL1, PHOX2B
8response to painGO:0482659.9EDNRB, RET
9regulation of respiratory gaseous exchange by neurological system processGO:0020879.9PHOX2B, TLX3
10melanocyte differentiationGO:0303189.9EDN3, EDNRB
11negative regulation of neuron differentiationGO:0456659.8ASCL1, TLX3, PHOX2B
12neuron migrationGO:0017649.8TLX3, PHOX2B, ASCL1
13sympathetic nervous system developmentGO:0484859.6GDNF, PHOX2A, PHOX2B, ASCL1
14enteric nervous system developmentGO:0484849.6RET, GDNF, EDNRB, PHOX2B
15neural crest cell migrationGO:0017559.6RET, EDNRB, EDN3, GDNF
16cell surface receptor signaling pathwayGO:0071669.4GFRA1, EDN3, EDNRB
17negative regulation of apoptotic processGO:0430668.8GDNF, EDNRB, UBC, ASCL1
18positive regulation of transcription from RNA polymerase II promoterGO:0459448.0EN1, TLX1, ASCL1, UBC, PHOX2A, 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:0009779.6PHOX2B, PHOX2A
2sequence-specific DNA bindingGO:0435658.8ASCL1, EN1, TLX1, TLX3
3receptor bindingGO:0051028.6EDN3, GRP, GDNF, GFRA1
4sequence-specific DNA binding transcription factor activityGO:0037008.2ASCL1, EN1, PHOX2B, PHOX2A, TLX1, TLX3

Products for genes affiliated with Congenital Central Hypoventilation Syndrome

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Sources for Congenital Central Hypoventilation Syndrome

3CDC
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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet