MCID: CNT097
MIFTS: 65

Central Hypoventilation Syndrome, Congenital

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Gastrointestinal diseases

Aliases & Classifications for Central Hypoventilation Syndrome, Congenital

MalaCards integrated aliases for Central Hypoventilation Syndrome, Congenital:

Name: Central Hypoventilation Syndrome, Congenital 53 71 51
Congenital Central Hypoventilation Syndrome 12 72 23 49 24 71 36 14
Cchs 53 12 72 49 24 55 71
Haddad Syndrome 53 24 55 28
Congenital Central Alveolar Hypoventilation Syndrome 12 55 69
Congenital Failure of Autonomic Control 49 24 71
Congenital Central Hypoventilation 24 28 69
Ondine Syndrome 12 24 55
Hypoventilation 41 69 28
Ondine Curse 12 55 71
Central Congenital Hypoventilation Syndrome 12 55
Central Hypoventilation Syndrome 53 13
Ondine-Hirschsprung Disease 24 55
Central Hypoventilation Syndrome, Congenital, with or Without Hirschsprung Disease 53
Congenital Central Alveolar Hypoventilation-Hirschsprung Disease Syndrome 55
Idiopathic Congenital Central Alveolar Hypoventilation 49
Primary Alveolar Hypoventilation Syndrome 36
Central Alveolar Hypoventilation Syndrome 69
Autonomic Control, Congenital Failure of 53
Sleep-Related Respiratory Failure 69
Primary Alveolar Hypoventilation 49
Cchs with Hirschsprung Disease 69
Ondine-Hirschsprung Syndrome 55
Ondine Curse, Congenital 53
Congenital Ondine Curse 49
Central Hypoventilation 28
Sleep Apnea, Central 69
Ondine's Curse 72

Characteristics:

Orphanet epidemiological data:

55
ondine syndrome
Inheritance: Autosomal dominant,Not applicable; Age of onset: Infancy,Neonatal; Age of death: normal life expectancy;
haddad syndrome
Inheritance: Autosomal dominant,Multigenic/multifactorial; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

53
Inheritance:
autosomal dominant

Miscellaneous:
onset usually at birth
worsening of symptoms during sleep
some patients have later onset of the disorder as young adults
patients often have other clinical symptoms resulting from dysfunction of the autonomic nervous system
hypoventilation occurs in the absence of primary neuromuscular, lung, or cardiac disease, or an identifiable brainstem lesion
most cases are caused by mutation in the phox2b gene


HPO:

31
central hypoventilation syndrome, congenital:
Mortality/Aging death in infancy
Inheritance autosomal dominant inheritance


GeneReviews:

23
Penetrance Penetrance for the phox2b polyalanine repeat expansion mutation appears to be high. amiel et al [2003], sasaki et al [2003], weese-mayer et al [2003], matera et al [2004], and berry-kravis et al [2006] found no controls with a phox2b polyalanine repeat expansion mutation...

Classifications:



Summaries for Central Hypoventilation Syndrome, Congenital

OMIM : 53 Idiopathic congenital central hypoventilation syndrome, also known as 'Ondine's curse' (Deonna et al., 1974), is a rare disorder characterized by abnormal control of respiration in the absence of neuromuscular, lung or cardiac disease, or an identifiable brainstem lesion. Patients breathe normally while awake, but hypoventilate with normal respiratory rates and shallow breathing during sleep; more severely affected patients hypoventilate both awake and asleep. These patients typically present in the first hours of life with cyanosis and increased carbon dioxide during sleep. A deficiency in autonomic control of respiration results in inadequate or negligible ventilatory and arousal responses to hypercapnia and hypoxemia (reviewed by Weese-Mayer et al., 1999). Congenital central hypoventilation syndrome has been associated with several disorders classified as neurocristopathies, that is, aberrant phenotypes arising from a defect of migration or differentiation of neural crest cells. These include neuroblastoma (Haddad et al., 1978), ganglioneuroma (Swaminathan et al., 1989), and most frequently Hirschsprung disease (HSCR) which appears in 16% of CCHS patients. The association of CCHS and HSCR is referred to as Haddad syndrome. Congenital central hypoventilation can be a feature of other developmental disorders, such as those caused by mutation in the MECP2 gene (300005). (209880)

MalaCards based summary : Central Hypoventilation Syndrome, Congenital, also known as congenital central hypoventilation syndrome, is related to hirschsprung disease 1 and sudden infant death syndrome, and has symptoms including seizures, intellectual disability and muscular hypotonia. An important gene associated with Central Hypoventilation Syndrome, Congenital is PHOX2B (Paired Like Homeobox 2b), and among its related pathways/superpathways are MAPK signaling pathway and Neurotrophin signaling pathway. The drugs Desogestrel and Progestins have been mentioned in the context of this disorder. Affiliated tissues include lung, skin and brain, and related phenotypes are shRNA abundance <= 50% and behavior/neurological

Disease Ontology : 12 An autonomic nervous system disease characterized by reduced responsiveness of the respiratory center to carbon dioxide, diminished pupillary light responses, and other symptoms related to defects in the autonomic nervous system and that has material basis in most commonly heterozygous mutation in the PHOX2B gene on chromosome 4p13 and less frequently mutations in the RET, GDNF, EDN3, BDNF, or ASCL1 genes.

Genetics Home Reference : 24 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.

NIH Rare Diseases : 49 Congenital central hypoventilation syndrome (CCHS) is a disorder of the autonomic nervous system that affects breathing. It causes a person 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; sporadic profuse sweating; Hirschsprung disease; constipation; learning difficulties; eye abnormalities; and a characteristic facial appearance (having a short, wide, somewhat flattened face). CCHS is caused by a mutation in the PHOX2B gene and is inherited in an autosomal dominant manner. However, over 90% of cases are due to a new mutation in the affected person and are not inherited from a parent. Treatment typically includes mechanical ventilation or use of a diaphragm pacemaker. Last updated: 1/12/2016

UniProtKB/Swiss-Prot : 71 Congenital central hypoventilation syndrome: Rare disorder characterized by abnormal control of respiration in the absence of neuromuscular or lung disease, or an identifiable brain stem lesion. A deficiency in autonomic control of respiration results in inadequate or negligible ventilatory and arousal responses to hypercapnia and hypoxemia.

Wikipedia : 72 Central hypoventilation syndrome (CHS) is a respiratory disorder that results in respiratory arrest... more...

GeneReviews: NBK1427

Related Diseases for Central Hypoventilation Syndrome, Congenital

Diseases related to Central Hypoventilation Syndrome, Congenital via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 42)
# Related Disease Score Top Affiliating Genes
1 hirschsprung disease 1 29.6 ASCL1 EDN3 EDNRB GDNF PHOX2B RET
2 sudden infant death syndrome 29.4 ASCL1 BDNF PHOX2A PHOX2B TH TLX3
3 obesity-hypoventilation syndrome 12.4
4 rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome 12.1
5 perry syndrome 11.4
6 athabaskan brainstem dysgenesis syndrome 11.3
7 encephalopathy, neonatal severe, due to mecp2 mutations 11.0
8 medullary sponge kidney 10.4 GDNF RET
9 waardenburg syndrome type 4 10.4 EDN3 EDNRB
10 neonatal hypoxic and ischemic brain injury 10.4 BDNF TH
11 waardenburg syndrome, type 4a 10.3 EDN3 EDNRB RET
12 cerebral artery occlusion 10.3 BDNF GDNF
13 peripheral nervous system neoplasm 10.3 BDNF PHOX2B TH
14 multiple endocrine neoplasia, type iib 10.3 EDNRB GDNF RET
15 hypoganglionosis 10.3 GDNF RET TH
16 autonomic nervous system neoplasm 10.3 BDNF PHOX2B TH
17 constipation 10.3 EDNRB GDNF RET
18 cochlear disease 10.2 EDN3 EDNRB
19 thyroid carcinoma, familial medullary 10.2 EDNRB GDNF RET
20 waardenburg's syndrome 10.2 EDN3 EDNRB RET
21 intestinal obstruction 10.2 EDN3 EDNRB GDNF RET
22 autonomic nervous system disease 10.2 ASCL1 EDNRB PHOX2A PHOX2B
23 exotropia 10.2 PHOX2A PHOX2B
24 intestinal pseudo-obstruction 10.2 EDNRB RET TLX2
25 nervous system disease 10.2 BDNF GDNF TH
26 pheochromocytoma 10.2 ASCL1 GDNF RET TH
27 goldberg-shprintzen syndrome 10.1 ASCL1 EDN3 EDNRB GDNF RET
28 anterior spinal artery syndrome 10.0
29 peyronie's disease 10.0
30 colonic disease 9.9 ASCL1 EDN3 EDNRB GDNF PHOX2B RET
31 central nervous system disease 9.9 BDNF GDNF TH
32 sleep apnea 9.8
33 western equine encephalitis 9.8
34 central sleep apnea 9.8
35 encephalitis 9.8
36 hypersomnia 9.8
37 multiple mitochondrial dysfunctions syndrome 5 9.8
38 nodular hidradenoma 9.8
39 hidradenoma 9.8
40 clear cell hidradenoma 9.8
41 hypoglycemia 9.8
42 megacolon 9.8 EDN3 EDNRB GDNF PHOX2B RET TLX2

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



Diseases related to Central Hypoventilation Syndrome, Congenital

Symptoms & Phenotypes for Central Hypoventilation Syndrome, Congenital

Symptoms via clinical synopsis from OMIM:

53
Abdomen Gastroin testinal:
constipation
poor feeding
hirschsprung disease (16%)

Neoplasia:
neuroblastoma
ganglioneuroma
ganglioneuroblastoma
tumors of the sympathetic nervous system (5 to 10%)

Respiratory:
alveolar hypoventilation
shallow breathing (decreased tidal volume)
normal respiratory rate
periods of apnea
abnormal respiration due to defect in autonomic function
more
Metabolic Features:
poor temperature regulation
decreased basal body temperature

Skin Nails Hair Skin:
increased sweating

Head And Neck Eyes:
diminished pupillary light responses

Neurologic Central Nervous System:
dysfunction of the autonomic nervous system

Laboratory Abnormalities:
chronic hypoxemia
chronic hypercapnia


Clinical features from OMIM:

209880

Human phenotypes related to Central Hypoventilation Syndrome, Congenital:

55 31 (show all 34)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 seizures 55 31 occasional (7.5%) Occasional (29-5%),Frequent (79-30%) HP:0001250
2 intellectual disability 55 31 frequent (33%) Frequent (79-30%) HP:0001249
3 muscular hypotonia 55 31 occasional (7.5%) Occasional (29-5%),Frequent (79-30%) HP:0001252
4 failure to thrive 55 31 hallmark (90%) Very frequent (99-80%) HP:0001508
5 respiratory insufficiency 55 31 hallmark (90%) Very frequent (99-80%) HP:0002093
6 dysautonomia 55 31 hallmark (90%) Very frequent (99-80%) HP:0002459
7 sensorineural hearing impairment 55 31 occasional (7.5%) Occasional (29-5%) HP:0000407
8 gastroesophageal reflux 55 31 frequent (33%) Frequent (79-30%) HP:0002020
9 cognitive impairment 55 31 occasional (7.5%) Occasional (29-5%) HP:0100543
10 strabismus 55 31 hallmark (90%) Very frequent (99-80%) HP:0000486
11 aganglionic megacolon 55 31 occasional (7.5%) Occasional (29-5%),Very frequent (99-80%) HP:0002251
12 polyhydramnios 55 31 occasional (7.5%) Occasional (29-5%) HP:0001561
13 oligohydramnios 55 31 occasional (7.5%) Occasional (29-5%) HP:0001562
14 decreased fetal movement 55 31 occasional (7.5%) Occasional (29-5%) HP:0001558
15 neuroblastoma 55 31 occasional (7.5%) Occasional (29-5%),Occasional (29-5%) HP:0003006
16 central hypoventilation 55 31 hallmark (90%) Very frequent (99-80%) HP:0007110
17 ganglioneuroma 55 31 occasional (7.5%) Occasional (29-5%),Occasional (29-5%) HP:0003005
18 small for gestational age 55 31 hallmark (90%) Very frequent (99-80%) HP:0001518
19 ganglioneuroblastoma 55 31 occasional (7.5%) Occasional (29-5%) HP:0006747
20 autonomic dysregulation 55 31 hallmark (90%) Very frequent (99-80%) HP:0002271
21 central sleep apnea 55 31 hallmark (90%) Very frequent (99-80%) HP:0010536
22 breathing dysregulation 55 31 hallmark (90%) Very frequent (99-80%) HP:0005957
23 constipation 31 HP:0002019
24 low-set ears 31 HP:0000369
25 hyperhidrosis 31 HP:0000975
26 abnormality of the cardiovascular system 31 HP:0001626
27 feeding difficulties 31 HP:0011968
28 death in infancy 55 Frequent (79-30%)
29 abnormality of temperature regulation 31 HP:0004370
30 abnormality of the mouth 31 HP:0000153
31 downslanted palpebral fissures 31 HP:0000494
32 neoplasm of the central nervous system 55 Occasional (29-5%)
33 posteriorly rotated ears 31 HP:0000358
34 abnormality of the autonomic nervous system 55 Very frequent (99-80%)

UMLS symptoms related to Central Hypoventilation Syndrome, Congenital:


increased sweating, constipation, apnea, cheyne-stokes respiration, coughing, dyspnea, hemoptysis, hoarseness, signs and symptoms, respiratory, sneezing, shallow breathing, paradoxical respiration, hyperoxia

GenomeRNAi Phenotypes related to Central Hypoventilation Syndrome, Congenital according to GeneCards Suite gene sharing:

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 shRNA abundance <= 50% GR00343-S 9.32 GPR4 KCNK5 PHOX2A PHOX2B PMPCA RET

MGI Mouse Phenotypes related to Central Hypoventilation Syndrome, Congenital:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.25 ASCL1 BDNF DBX1 EDN3 EDNRB GDNF
2 growth/size/body region MP:0005378 10.17 ASCL1 KCNK5 MARK3 MYO1H PHOX2A PHOX2B
3 mortality/aging MP:0010768 10.16 TLX3 ASCL1 BDNF DBX1 EDN3 EDNRB
4 nervous system MP:0003631 10 TLX3 ASCL1 BDNF DBX1 EDN3 EDNRB
5 digestive/alimentary MP:0005381 9.91 BDNF EDN3 EDNRB GDNF RET TLX2
6 no phenotypic analysis MP:0003012 9.56 ASCL1 BDNF DBX1 KCNK5 MARK3 PHOX2A
7 respiratory system MP:0005388 9.36 ASCL1 BDNF DBX1 EDNRB GPR4 KCNK5

Drugs & Therapeutics for Central Hypoventilation Syndrome, Congenital

Drugs for Central Hypoventilation Syndrome, Congenital (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 14)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Desogestrel Approved Phase 2, Phase 3 54024-22-5 40973
2 Progestins Phase 2, Phase 3
3 Contraceptive Agents Phase 2, Phase 3
4 Contraceptives, Oral Phase 2, Phase 3
5 Hormone Antagonists Phase 2, Phase 3
6 Hormones Phase 2, Phase 3
7 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 2, Phase 3
8
Estradiol Approved, Investigational, Vet_approved 50-28-2 5757
9
Ethinyl Estradiol Approved 57-63-6 5991
10 Estradiol valerate 979-32-8
11 Contraceptives, Oral, Combined
12 Estradiol 17 beta-cypionate
13 Estradiol 3-benzoate
14 Polyestradiol phosphate

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Assessment of Desogestrel in Ondine Syndrome Completed NCT01243697 Phase 2, Phase 3 desogestrel
2 Therapeutic Effect of Desogestrel on Ventilatory Control in Patients With Congenital Central Hypoventilation Syndrome Unknown status NCT01500473 Desogestrel
3 PHOX2B Mutation-Confirmed Congenital Central Hypoventilation Syndrome in A Chinese Family: Presentations From Newborn to Adulthood Unknown status NCT00652964
4 Late-onset Congenital Central Hypoventilation Syndrome and the Mutation of Phox2B Gene Completed NCT01225679
5 International Congenital Central Hypoventilation Syndrome (CCHS) Registry Recruiting NCT03088020
6 Evaluation of the Awakening Capability by a Vibrating Bracelet (BRASSARD) Recruiting NCT03053011
7 European Home Mechanical Ventilation Registry Terminated NCT02315339

Search NIH Clinical Center for Central Hypoventilation Syndrome, Congenital

Inferred drug relations via UMLS 69 / NDF-RT 47 :


Cochrane evidence based reviews: hypoventilation

Genetic Tests for Central Hypoventilation Syndrome, Congenital

Genetic tests related to Central Hypoventilation Syndrome, Congenital:

# Genetic test Affiliating Genes
1 Congenital Central Hypoventilation 28 ASCL1 BDNF EDN3 GDNF PHOX2B RET
2 Haddad Syndrome 28
3 Central Hypoventilation 28
4 Hypoventilation 28

Anatomical Context for Central Hypoventilation Syndrome, Congenital

MalaCards organs/tissues related to Central Hypoventilation Syndrome, Congenital:

38
Lung, Skin, Brain, Heart, Eye

Publications for Central Hypoventilation Syndrome, Congenital

Articles related to Central Hypoventilation Syndrome, Congenital:

(show top 50) (show all 217)
# Title Authors Year
1
Nonsense pathogenic variants in exon 1 of PHOX2B lead to translational reinitiation in congenital central hypoventilation syndrome. ( 28371199 )
2017
2
Respiratory and autonomic dysfunction in congenital central hypoventilation syndrome. ( 27226447 )
2016
3
Alanine Expansions Associated with Congenital Central Hypoventilation Syndrome Impair PHOX2B Homeodomain-mediated Dimerization and Nuclear Import. ( 27129232 )
2016
4
Significant phenotype variability of congenital central hypoventilation syndrome in a family with polyalanine expansion mutation of the PHOX2B gene. ( 27485184 )
2016
5
Hyperthyroidism hidden by congenital central hypoventilation syndrome. ( 25581741 )
2015
6
Genotype-phenotype relationship in Japanese patients with congenital central hypoventilation syndrome. ( 26063465 )
2015
7
Treatment of neuroblastoma in congenital central hypoventilation syndrome with a PHOX2B polyalanine repeat expansion mutation: New twist on a neurocristopathy syndrome. ( 26011159 )
2015
8
Dysregulation of locus coeruleus development in congenital central hypoventilation syndrome. ( 25975378 )
2015
9
Thoracoscopic placement of phrenic nerve pacers for diaphragm pacing in congenital central hypoventilation syndrome. ( 25598098 )
2015
10
Abnormal auditory pathways in PHOX2B mutation positive congenital central hypoventilation syndrome. ( 25886294 )
2015
11
Sleeping problems in mothers and fathers of patients suffering from congenital central hypoventilation syndrome. ( 25631640 )
2014
12
Congenital central hypoventilation syndrome: a neurocristopathy with disordered respiratory control and autonomic regulation. ( 25156769 )
2014
13
Ethical considerations with the management of congenital central hypoventilation syndrome. ( 25195933 )
2014
14
The cerebral cost of breathing: an FMRI case-study in congenital central hypoventilation syndrome. ( 25268234 )
2014
15
A case of congenital central hypoventilation syndrome with a novel mutation of the PHOX2B gene presenting as central sleep apnea. ( 24634632 )
2014
16
[Congenital central hypoventilation syndrome: paradigm shifts and future prospects]. ( 24605541 )
2014
17
Late-onset congenital central hypoventilation syndrome and a rare PHOX2B gene mutation. ( 24792884 )
2014
18
Airway obstruction in congenital central hypoventilation syndrome. ( 24842348 )
2014
19
Congenital central hypoventilation syndrome with PHOX2B mutation in Saudi Arabia: a- single center experience. ( 25505867 )
2014
20
A case of congenital central hypoventilation syndrome in a three-generation family with non-polyalanine repeat PHOX2B mutation. ( 24799442 )
2014
21
An assistive device for congenital central hypoventilation syndrome outpatients during sleep. ( 25069973 )
2014
22
Congenital central hypoventilation syndrome and carbon dioxide sensitivity. ( 25319843 )
2014
23
Congenital central hypoventilation syndrome and sudden infant death syndrome: disorders of autonomic regulation. ( 23465774 )
2013
24
Thoracic paravertebral block for awake breast surgery in a patient with congenital central hypoventilation syndrome (Ondine's Curse). ( 23994702 )
2013
25
Monitoring diaphragm electrical activity and the detection of congenital central hypoventilation syndrome in a newborn. ( 24169930 )
2013
26
Diagnostic practices and disease surveillance in Canadian children with congenital central hypoventilation syndrome. ( 23762885 )
2013
27
Extreme intra-familial variability of congenital central hypoventilation syndrome: a case series. ( 23622117 )
2013
28
PHOX2B Mutation in a Taiwanese Newborn with Congenital Central Hypoventilation Syndrome. ( 23597545 )
2013
29
A new device for the care of Congenital Central Hypoventilation Syndrome patients during sleep. ( 24110221 )
2013
30
Intermittent hyperglycemia due to autonomic nervous system dysfunction: a new feature in patients with congenital central hypoventilation syndrome. ( 22863257 )
2013
31
Autonomic dysfunction of glucose homoeostasis in congenital central hypoventilation syndrome. ( 23231723 )
2013
32
Congenital central hypoventilation syndrome with PHOX2B gene mutation: are we missing the diagnosis? ( 22829249 )
2013
33
Neurally adjusted ventilatory assist (NAVA) mode as an adjunct diagnostic tool in congenital central hypoventilation syndrome. ( 23374524 )
2013
34
Congenital central hypoventilation syndrome. ( 23692929 )
2013
35
Residual chemosensitivity to ventilatory challenges in genotyped congenital central hypoventilation syndrome. ( 24381123 )
2013
36
Congenital central hypoventilation syndrome; Safety of early transition to non-invasive ventilation. ( 23843332 )
2013
37
Peripheral chemoreceptors in congenital central hypoventilation syndrome. ( 23099221 )
2013
38
Reversal of pulmonary hypertension after diaphragm pacing in an adult patient with congenital central hypoventilation syndrome. ( 23653299 )
2013
39
An unusual cause of fetal hypomobility:congenital central hypoventilation syndrome associated with hirschsprung disease. ( 24135798 )
2013
40
Transcriptional dysregulation and impairment of PHOX2B auto-regulatory mechanism induced by polyalanine expansion mutations associated with congenital central hypoventilation syndrome. ( 23103552 )
2013
41
Progressive gray matter changes in patients with congenital central hypoventilation syndrome. ( 22343924 )
2012
42
Late-onset, insidious course and invasive treatment of congenital central hypoventilation syndrome in a case with the Phox2B mutation: case report. ( 22102181 )
2012
43
Congenital central hypoventilation syndrome with PHOX2B gene mutation. ( 22674249 )
2012
44
Congenital central hypoventilation syndrome in a full-term baby presenting with repeated extubation failure. ( 22348500 )
2012
45
Congenital central hypoventilation syndrome and hypoglycaemia. ( 22103583 )
2012
46
Pupillometry in congenital central hypoventilation syndrome (CCHS): quantitative evidence of autonomic nervous system dysregulation. ( 22278185 )
2012
47
Germline mosaicism of PHOX2B mutation accounts for familial recurrence of congenital central hypoventilation syndrome (CCHS). ( 22821709 )
2012
48
Epidemiologic survey of patients with congenital central hypoventilation syndrome in Japan. ( 21958325 )
2012
49
The E3 ubiquitin ligase TRIM11 mediates the degradation of congenital central hypoventilation syndrome-associated polyalanine-expanded PHOX2B. ( 22307522 )
2012
50
Congenital central hypoventilation syndrome with hirschsprung's disease due to PHOX2B gene mutation in a Turkish infant. ( 23427517 )
2012

Variations for Central Hypoventilation Syndrome, Congenital

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

71
# Symbol AA change Variation ID SNP ID
1 BDNF p.Thr2Ile VAR_018260 rs8192466
2 PHOX2B p.Arg141Gln VAR_046900
3 PHOX2B p.Gln143Arg VAR_046901
4 RET p.Arg67His VAR_018153 rs192489011
5 RET p.Arg114His VAR_018154 rs76397662
6 RET p.Ala432Glu VAR_018155 rs552057730
7 RET p.Pro1039Leu VAR_018157 rs79853121

ClinVar genetic disease variations for Central Hypoventilation Syndrome, Congenital:

6 (show all 13)
# Gene Variation Type Significance SNP ID Assembly Location
1 GDNF NM_000514.3(GDNF): c.277C> T (p.Arg93Trp) single nucleotide variant risk factor rs36119840 GRCh37 Chromosome 5, 37816112: 37816112
2 RET NM_020975.4(RET): c.2410G> A (p.Val804Met) single nucleotide variant Pathogenic/Likely pathogenic rs79658334 GRCh37 Chromosome 10, 43614996: 43614996
3 EDN3 EDN3, 1-BP INS insertion Pathogenic
4 BDNF NM_170731.4(BDNF): c.29C> T (p.Thr10Ile) single nucleotide variant Pathogenic rs8192466 GRCh37 Chromosome 11, 27680107: 27680107
5 ASCL1 NM_004316.3(ASCL1): c.52C> A (p.Pro18Thr) single nucleotide variant Pathogenic rs267606667 GRCh37 Chromosome 12, 103352074: 103352074
6 ASCL1 ASCL1, 15-BP DEL, NT111 deletion Pathogenic
7 ASCL1 ASCL1, 24-BP DEL, NT108 deletion Pathogenic
8 PHOX2B NP_003915.2: p.Ala260(5_9) NT expansion Pathogenic
9 PHOX2B NM_003924.3(PHOX2B): c.618dupC (p.Ser207Glnfs) duplication Pathogenic rs587776626 GRCh37 Chromosome 4, 41748151: 41748151
10 PHOX2B PHOX2B, 37-BP DEL, NT722 deletion Pathogenic
11 PHOX2B NM_003924.3(PHOX2B): c.299G> T (p.Arg100Leu) single nucleotide variant risk factor rs104893855 GRCh37 Chromosome 4, 41749496: 41749496
12 PMPCA NM_015160.2(PMPCA): c.1066G> A (p.Gly356Ser) single nucleotide variant Pathogenic rs768643552 GRCh37 Chromosome 9, 139313082: 139313082
13 PMPCA NM_015160.2(PMPCA): c.1129G> A (p.Ala377Thr) single nucleotide variant Pathogenic rs753611141 GRCh38 Chromosome 9, 136418847: 136418847

Expression for Central Hypoventilation Syndrome, Congenital

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

Pathways for Central Hypoventilation Syndrome, Congenital

Pathways related to Central Hypoventilation Syndrome, Congenital according to KEGG:

36
# Name Kegg Source Accession
1 MAPK signaling pathway hsa04010
2 Neurotrophin signaling pathway hsa04722

Pathways related to Central Hypoventilation Syndrome, Congenital according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.44 ASCL1 PHOX2B TLX2
2 11.38 ASCL1 BDNF PHOX2A PHOX2B RET TH
3 11.15 ASCL1 BDNF GDNF TH
4 10.81 ASCL1 RET TH

GO Terms for Central Hypoventilation Syndrome, Congenital

Biological processes related to Central Hypoventilation Syndrome, Congenital according to GeneCards Suite gene sharing:

(show all 21)
# Name GO ID Score Top Affiliating Genes
1 nervous system development GO:0007399 9.93 ASCL1 BDNF EDNRB GDNF RET
2 regulation of gene expression GO:0010468 9.8 ASCL1 EDN3 GDNF PHOX2B
3 neuron migration GO:0001764 9.73 ASCL1 PHOX2B TLX3
4 neuron differentiation GO:0030182 9.71 ASCL1 PHOX2B RET TLX3
5 negative regulation of neuron differentiation GO:0045665 9.65 ASCL1 PHOX2B TLX3
6 dopaminergic neuron differentiation GO:0071542 9.6 PHOX2A PHOX2B
7 peripheral nervous system development GO:0007422 9.59 EDNRB GDNF
8 response to pain GO:0048265 9.58 EDNRB RET
9 vasoconstriction GO:0042310 9.58 EDN3 EDNRB
10 glial cell differentiation GO:0010001 9.57 ASCL1 PHOX2B
11 neuron fate specification GO:0048665 9.55 ASCL1 TLX3
12 regulation of respiratory gaseous exchange by neurological system process GO:0002087 9.52 PHOX2B TLX3
13 sympathetic ganglion development GO:0061549 9.51 ASCL1 PHOX2B
14 neural crest cell migration GO:0001755 9.5 EDNRB GDNF RET
15 noradrenergic neuron differentiation GO:0003357 9.46 PHOX2A PHOX2B
16 vein smooth muscle contraction GO:0014826 9.43 EDN3 EDNRB
17 noradrenergic neuron development GO:0003358 9.37 ASCL1 PHOX2B
18 posterior midgut development GO:0007497 9.26 EDNRB RET
19 sympathetic nervous system development GO:0048485 9.26 ASCL1 GDNF PHOX2A PHOX2B
20 parasympathetic nervous system development GO:0048486 9.16 PHOX2A PHOX2B
21 enteric nervous system development GO:0048484 9.02 EDNRB GDNF PHOX2B RET TLX2

Molecular functions related to Central Hypoventilation Syndrome, Congenital according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 sequence-specific DNA binding GO:0043565 9.1 ASCL1 DBX1 PHOX2A PHOX2B TLX2 TLX3

Sources for Central Hypoventilation Syndrome, Congenital

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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