CCHS
MCID: CNT097
MIFTS: 70

Central Hypoventilation Syndrome, Congenital (CCHS)

Categories: Eye diseases, Fetal diseases, Gastrointestinal diseases, Genetic diseases, Neuronal diseases, Rare diseases, Respiratory diseases

Aliases & Classifications for Central Hypoventilation Syndrome, Congenital

MalaCards integrated aliases for Central Hypoventilation Syndrome, Congenital:

Name: Central Hypoventilation Syndrome, Congenital 57 74 55
Congenital Central Hypoventilation Syndrome 12 75 24 53 25 74 37 15
Cchs 57 12 75 53 25 59 74
Haddad Syndrome 57 25 59 29 6
Congenital Central Hypoventilation 25 29 6 72
Congenital Central Alveolar Hypoventilation Syndrome 12 59 72
Congenital Failure of Autonomic Control 53 25 74
Ondine Syndrome 12 25 59
Ondine Curse 12 59 74
Central Congenital Hypoventilation Syndrome 12 59
Central Hypoventilation Syndrome 57 13
Ondine-Hirschsprung Disease 25 59
Hypoventilation 44 72
Central Hypoventilation Syndrome, Congenital, with or Without Hirschsprung Disease 57
Congenital Central Alveolar Hypoventilation-Hirschsprung Disease Syndrome 59
Idiopathic Congenital Central Alveolar Hypoventilation 53
Syndrome, Hypoventilation, Central, Congenital 40
Primary Alveolar Hypoventilation Syndrome 37
Central Alveolar Hypoventilation Syndrome 72
Autonomic Control, Congenital Failure of 57
Sleep-Related Respiratory Failure 72
Primary Alveolar Hypoventilation 53
Cchs with Hirschsprung Disease 72
Ondine-Hirschsprung Syndrome 59
Ondine Curse, Congenital 57
Congenital Ondine Curse 53
Central Hypoventilation 6
Sleep Apnea, Central 72
Ondine's Curse 75

Characteristics:

Orphanet epidemiological data:

59
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:

57
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:

32
central hypoventilation syndrome, congenital:
Clinical modifier death in infancy
Inheritance autosomal dominant inheritance


GeneReviews:

24
Penetrance Penetrance for the phox2b polyalanine repeat expansion 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....

Classifications:



External Ids:

Disease Ontology 12 DOID:0060731
OMIM 57 209880
ICD10 33 G47.3
MESH via Orphanet 45 C536209
ICD10 via Orphanet 34 G47.3
UMLS via Orphanet 73 C1275808 C1859049 C1859587
UMLS 72 C0020681 C0520680 C0520681 more

Summaries for Central Hypoventilation Syndrome, Congenital

Genetics Home Reference : 25 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. Symptoms of CCHS usually become apparent shortly after birth. Affected infants hypoventilate upon falling asleep and exhibit a bluish appearance of the skin or lips (cyanosis). Cyanosis is caused by lack of oxygen in the blood. In some milder cases, CCHS may be diagnosed later in life. In addition to the breathing problem, people with this disorder may have difficulty regulating their heart rate and blood pressure, for example in response to exercise or changes in body position. They may have abnormalities in the nerves that control the digestive tract (Hirschsprung disease), resulting in severe constipation, intestinal blockage, and enlargement of the colon. They are also at increased risk of developing certain tumors of the nervous system called neuroblastomas, ganglioneuromas, and ganglioneuroblastomas. Some affected individuals develop learning difficulties or other neurological problems, which may be worsened by oxygen deprivation if treatment to support their breathing is not completely effective. Individuals with CCHS usually have eye abnormalities, including a decreased response of the pupils to light. They also have decreased perception of pain, low body temperature, and occasional episodes of profuse sweating. People with CCHS, especially children, may have a characteristic appearance with a short, wide, somewhat flattened face often described as "box-shaped." Life expectancy and the extent of any cognitive disabilities depend on the severity of the disorder, timing of the diagnosis, and the success of treatment.

MalaCards based summary : Central Hypoventilation Syndrome, Congenital, also known as congenital central hypoventilation syndrome, is related to constipation and hirschsprung disease 1, and has symptoms including constipation, dyspnea and apnea. 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 Zopiclone and Riluzole have been mentioned in the context of this disorder. Affiliated tissues include heart, lung and testes, and related phenotypes are failure to thrive and respiratory insufficiency

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.

NIH Rare Diseases : 53 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. It have two forms of presentation, a classic form that usually begin shortly after birth in newborns, and a milder later-onset presentaition in toddlers, children and adults. 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). They can also have tumors of neural crest origin, such as neuroblastoma, ganglioneuroblastoma, and ganglioneuroma. The later-onset form is milder, and some cases may present as infants and children who die suddenly and unexpectedly ("SIDS" and "sudden unexplained death of childhood [SUDC]"). CCHS is caused by a variation (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. Diagnosis is made with the clinical symptoms and the genetic test showing the variation in the PHOX2B gene. Treatment typically includes mechanical ventilation or use of a diaphragm pacemaker. People who have been diagnosed as newborns and adequately ventilated throughout childhood may reach the age of 20 to 30 years, and can live independently. In the later-onset form, people who were diagnosed when they were 20 years or older have now reached the age of 30 to 55 years.

OMIM : 57 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)

KEGG : 37
Congenital central hypoventilation syndrome (CCHS) is a disorder characterized by an idiopathic failure of the automatic control of breathing. It is frequently associated with a broad spectrum of dysautonomic symptoms, suggesting the involvement of genes widely expressed in the autonomic nervous system. In particular, the ASCL1-PHOX2A-PHOX2B developmental cascade was proposed as a candidate pathway. Recently, It has been showed that PHOX2B is the major CCHS locus, whose mutation accounts for 60% of cases.

UniProtKB/Swiss-Prot : 74 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 : 75 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 top 50) (show all 427)
# Related Disease Score Top Affiliating Genes
1 constipation 30.6 RET GDNF EDNRB EDN3
2 hirschsprung disease 1 30.6 RET PHOX2B GDNF EDNRB EDN3
3 intestinal obstruction 30.6 RET GDNF EDNRB EDN3
4 nervous system disease 30.5 TH GDNF BDNF
5 sudden infant death syndrome 30.1 TH PHOX2B PHOX2A BDNF ASCL1
6 exotropia 30.0 PHOX2B PHOX2A
7 central nervous system disease 29.9 TH GDNF BDNF
8 pheochromocytoma 29.7 TH RET GDNF DBH ASCL1
9 megacolon 29.5 TLX2 RET PHOX2B GDNF EDNRB EDN3
10 obesity-hypoventilation syndrome 12.8
11 rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome 12.4
12 idiopathic alveolar hypoventilation syndrome 12.3
13 perry syndrome 11.7
14 pulmonary hemosiderosis 11.7
15 athabaskan brainstem dysgenesis syndrome 11.5
16 nemaline myopathy 11.4
17 nemaline myopathy 3 11.4
18 hypotonia, hyperventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities 11.4
19 rohhad 11.3
20 encephalopathy, neonatal severe, due to mecp2 mutations 11.2
21 pontocerebellar hypoplasia, type 4 11.1
22 nemaline myopathy 2 11.1
23 nemaline myopathy 5 11.1
24 congenital disorder of glycosylation, type iib 11.1
25 nemaline myopathy 1 11.1
26 nemaline myopathy 4 11.1
27 pura syndrome 11.1
28 actin-accumulation myopathy 11.1
29 intranuclear rod myopathy 11.1
30 body mass index quantitative trait locus 11 10.8
31 body mass index quantitative trait locus 9 10.8
32 body mass index quantitative trait locus 8 10.8
33 body mass index quantitative trait locus 4 10.8
34 body mass index quantitative trait locus 10 10.8
35 body mass index quantitative trait locus 7 10.8
36 body mass index quantitative trait locus 12 10.8
37 body mass index quantitative trait locus 14 10.8
38 body mass index quantitative trait locus 18 10.8
39 body mass index quantitative trait locus 19 10.8
40 body mass index quantitative trait locus 20 10.8
41 medullary sponge kidney 10.7 RET GDNF
42 waardenburg syndrome type 4 10.6 EDNRB EDN3
43 oligomeganephronia 10.6 RET GDNF
44 neonatal hypoxic and ischemic brain injury 10.5 TH BDNF
45 hypoganglionosis 10.5 TH RET GDNF
46 waardenburg syndrome, type 4a 10.5 RET EDNRB EDN3
47 multiple endocrine neoplasia, type iib 10.5 RET GDNF EDNRB
48 cochlear disease 10.4 EDNRB EDN3
49 autonomic nervous system neoplasm 10.4 TH PHOX2B BDNF
50 respiratory failure 10.4

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

Human phenotypes related to Central Hypoventilation Syndrome, Congenital:

59 32 (show all 39)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 failure to thrive 59 32 hallmark (90%) Very frequent (99-80%) HP:0001508
2 respiratory insufficiency 59 32 hallmark (90%) Very frequent (99-80%) HP:0002093
3 strabismus 59 32 hallmark (90%) Very frequent (99-80%) HP:0000486
4 aganglionic megacolon 59 32 occasional (7.5%) Occasional (29-5%),Very frequent (99-80%) HP:0002251
5 central hypoventilation 59 32 hallmark (90%) Very frequent (99-80%) HP:0007110
6 small for gestational age 59 32 hallmark (90%) Very frequent (99-80%) HP:0001518
7 central sleep apnea 59 32 hallmark (90%) Very frequent (99-80%) HP:0010536
8 breathing dysregulation 59 32 hallmark (90%) Very frequent (99-80%) HP:0005957
9 abnormal autonomic nervous system physiology 32 hallmark (90%) HP:0012332
10 intellectual disability 59 32 frequent (33%) Frequent (79-30%) HP:0001249
11 seizures 59 32 occasional (7.5%) Occasional (29-5%),Frequent (79-30%) HP:0001250
12 muscular hypotonia 59 32 occasional (7.5%) Occasional (29-5%),Frequent (79-30%) HP:0001252
13 gastroesophageal reflux 59 32 frequent (33%) Frequent (79-30%) HP:0002020
14 sensorineural hearing impairment 59 32 occasional (7.5%) Occasional (29-5%) HP:0000407
15 cognitive impairment 59 32 occasional (7.5%) Occasional (29-5%) HP:0100543
16 polyhydramnios 59 32 occasional (7.5%) Occasional (29-5%) HP:0001561
17 decreased fetal movement 59 32 occasional (7.5%) Occasional (29-5%) HP:0001558
18 oligohydramnios 59 32 occasional (7.5%) Occasional (29-5%) HP:0001562
19 neuroblastoma 59 32 occasional (7.5%) Occasional (29-5%),Occasional (29-5%) HP:0003006
20 ganglioneuroma 59 32 occasional (7.5%) Occasional (29-5%),Occasional (29-5%) HP:0003005
21 ganglioneuroblastoma 59 32 occasional (7.5%) Occasional (29-5%) HP:0006747
22 low-set ears 32 HP:0000369
23 hyperhidrosis 32 HP:0000975
24 constipation 32 HP:0002019
25 dysautonomia 59 Very frequent (99-80%)
26 abnormality of the cardiovascular system 32 HP:0001626
27 feeding difficulties 32 HP:0011968
28 death in infancy 59 Frequent (79-30%)
29 abnormality of temperature regulation 32 HP:0004370
30 apnea 32 HP:0002104
31 abnormality of the mouth 32 HP:0000153
32 downslanted palpebral fissures 32 HP:0000494
33 neoplasm of the central nervous system 59 Occasional (29-5%)
34 hypoxemia 32 HP:0012418
35 hypoventilation 32 HP:0002791
36 posteriorly rotated ears 32 HP:0000358
37 hypercapnia 32 HP:0012416
38 abnormality of the autonomic nervous system 59 Very frequent (99-80%)
39 autonomic dysregulation 59 Very frequent (99-80%)

Symptoms via clinical synopsis from OMIM:

57
Abdomen Gastrointestinal:
constipation
poor feeding
hirschsprung disease (16%)

Skin Nails Hair Skin:
increased sweating

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

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

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

UMLS symptoms related to Central Hypoventilation Syndrome, Congenital:


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

MGI Mouse Phenotypes related to Central Hypoventilation Syndrome, Congenital:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.33 ASCL1 BDNF DBH DBX1 EDN3 EDNRB
2 growth/size/body region MP:0005378 10.28 ASCL1 BDNF DBH DBX1 EDNRB GDNF
3 mortality/aging MP:0010768 10.19 ASCL1 BDNF DBH DBX1 EDN3 EDNRB
4 homeostasis/metabolism MP:0005376 10.15 BDNF DBH DBX1 EDNRB GPR4 KCNK5
5 nervous system MP:0003631 10.03 ASCL1 BDNF DBH DBX1 EDN3 EDNRB
6 digestive/alimentary MP:0005381 9.98 BDNF EDN3 EDNRB GDNF RET TLX2
7 integument MP:0010771 9.92 ASCL1 BDNF DBH EDN3 EDNRB GPR4
8 no phenotypic analysis MP:0003012 9.5 ASCL1 BDNF DBX1 MARK3 PHOX2A RET
9 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 top 50) (show all 210)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Zopiclone Approved Phase 4 43200-80-2 5735
2
Riluzole Approved, Investigational Phase 4 1744-22-5 5070
3
Acetazolamide Approved, Vet_approved Phase 4 59-66-5 1986
4
Acetaminophen Approved Phase 4 103-90-2 1983
5
Celecoxib Approved, Investigational Phase 4 169590-42-5 2662
6
tannic acid Approved Phase 4 1401-55-4
7
Benzocaine Approved, Investigational Phase 4 94-09-7, 1994-09-7 2337
8
Oxycodone Approved, Illicit, Investigational Phase 4 76-42-6 5284603
9
Naloxone Approved, Vet_approved Phase 4 465-65-6 5284596
10
Magnesium Sulfate Approved, Investigational, Vet_approved Phase 4 7487-88-9 24083
11
Dexmedetomidine Approved, Vet_approved Phase 4 113775-47-6 68602 5311068
12
Methadone Approved, Illicit Phase 4 76-99-3 4095
13
Alfentanil Approved, Illicit Phase 4 71195-58-9 51263
14
Neostigmine Approved, Vet_approved Phase 4 59-99-4 4456
15
Eplerenone Approved Phase 4 107724-20-9 150310 443872
16
Gabapentin Approved, Investigational Phase 4 60142-96-3 3446
17
Guaifenesin Approved, Investigational, Vet_approved Phase 4 93-14-1 3516
18
Opium Approved, Illicit Phase 4 8008-60-4
19
Loperamide Approved Phase 4 53179-11-6 3955
20
Rocuronium Approved Phase 4 119302-91-9, 143558-00-3 441290
21
Calcium Approved, Nutraceutical Phase 4 7440-70-2 271
22 Hormone Antagonists Phase 4
23 Hormones Phase 4
24 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4
25 Natriuretic Agents Phase 4
26 diuretics Phase 4
27 Carbonic Anhydrase Inhibitors Phase 4
28 Antirheumatic Agents Phase 4
29 Adrenergic alpha-Agonists Phase 4
30 Adrenergic Agonists Phase 4
31 Adrenergic Agents Phase 4
32 Analgesics, Non-Narcotic Phase 4
33 Cyclooxygenase Inhibitors Phase 4
34 Cyclooxygenase 2 Inhibitors Phase 4
35 Anti-Inflammatory Agents, Non-Steroidal Phase 4
36 Antipyretics Phase 4
37 Pharmaceutical Solutions Phase 4
38 Opiate Alkaloids Phase 4
39 Narcotic Antagonists Phase 4
40 Antihypertensive Agents Phase 4
41 Tocolytic Agents Phase 4
42 Anti-Arrhythmia Agents Phase 4
43 calcium channel blockers Phase 4
44 Calcium, Dietary Phase 4
45 Anti-Bacterial Agents Phase 4
46 Antibiotics, Antitubercular Phase 4
47 Adrenergic alpha-2 Receptor Agonists Phase 4
48 Cholinesterase Inhibitors Phase 4
49 Neuromuscular Nondepolarizing Agents Phase 4
50
Glycopyrrolate Phase 4 596-51-0 3494

Interventional clinical trials:

(show top 50) (show all 302)
# Name Status NCT ID Phase Drugs
1 Adaptative Servoventilation Compliance in Left Ventricular Dysfunction Patients With Central Sleep Apnea: Benefit of One Month Hypnotic (Zopiclone) Versus Placebo Unknown status NCT02820441 Phase 4 Zopiclone;Placebo
2 Role of Non-invasive Ventilation in Amyotrophic Lateral Sclerosis: Volume Versus Pressure Mode Unknown status NCT00560287 Phase 4
3 A Pilot Study: Comparing Physiological Parameters and Outcome Variables Using Pressure Support Ventilation Versus Pressure Controlled Ventilation in Patients With Chronic Respiratory Failure Unknown status NCT00994552 Phase 4
4 Cardiac Resynchronisation Therapy in Combination With Overdrive Pacing in the Treatment of Central Sleep Apnea in CHF Completed NCT00551499 Phase 4
5 Treatment of Sleep-Disordered Breathing With Predominant Central Sleep Apnea by Adaptive Servo Ventilation in Patients With Heart Failure Completed NCT00733343 Phase 4
6 Hypoventilation and High Altitude Chronic Polycythemia: Acetazolamide as a Possible Treatment Completed NCT00424970 Phase 4 acetazolamide
7 Single Dose Preoperative Gabapentin Use in Minimally Invasive Hysterectomy for Acute Pain Management Completed NCT02703259 Phase 4 Gabapentin;Acetaminophen;Celecoxib
8 Effects of Slow Breathing on Blood Pressure and Autonomic Function in Hypertensive Patients Completed NCT01390727 Phase 4
9 Prospective, Randomized Clinical Pilot Study: Oral Opiate Targin In Treatment Of Postoperative Pain After Major Cardiac Surgery Completed NCT01816581 Phase 4 Targin;Oxynorm;Morphine
10 Patients-ventilator Interaction During Sleep: the Role of Humidification. A Pilot Short Term Study Completed NCT01038791 Phase 4
11 Effect of Intravenous Infusion of Magnesium Sulphate on Arterial Oxygenation and Pulmonary Mechanics in Patients With Chronic Obstructive Pulmonary Diseases Undergoing Cancer Larynx Surgery. A Randomized Controlled Trial Completed NCT03461328 Phase 4 Magnesium Sulphate
12 Stacking Exercises Attenuate the Decline in Forced Vital Capacity and Sick Time (STEADFAST) Completed NCT01999075 Phase 4
13 Comparing Time to Readiness for Discharge After Colonoscopy: Propofol and Dexmedetomidine vs Propofol Only Sedation Completed NCT03139279 Phase 4 Dexmedetomidine;Propofol
14 Alfentanil vs Remifentanil in Patient-controlled Sedation During ERCP.A Randomized Double-blind Study Completed NCT01350037 Phase 4 alfentanil;remifentanil
15 Phase 4: CLINICAL EVALUATION OF TWO PHARMACOKINETICS MODELS OF PROPOFOL IN HEALTHY PEOPLE Completed NCT02155517 Phase 4 Evaluation of propofol effect;Evaluation of propofol effect
16 Effect of Deep Curarisation and Reversal With Sugammadex on Surgical Conditions and Perioperative Morbidity in Patients Undergoing Laparoscopic Gastric Bypass Surgery Completed NCT01748643 Phase 4 deep neuromuscular blockade with rocuronium, reversal with sugammadex;normal neuromuscular blockade reversal with rocuronium, reversal with neostigmine
17 The Effect of Choice of Intraoperative Opioid on Postoperative Pain Completed NCT01542645 Phase 4 Methadone;Fentanyl
18 Effects of Eplerenone on Left Ventricular Hypertrophy in Patients With Resistant Hypertension and Obstructive Sleep Apnoea Completed NCT03186742 Phase 4 Eplerenone 50 mg Tab
19 Comparison of Therapeutic Oxygen Versus Medical Air for the Treatment of Central Sleep Apnea in Infants and Children With Prader Willi Syndrome: A Proof of Concept Study Recruiting NCT03031626 Phase 4
20 A Multi-Centre, Randomized Study to Assess the Effects of Adaptive Servo Ventilation (ASV) on Survival and Frequency of Hospital Admissions in Patients With Heart Failure (HF) and Sleep Apnea (SA)-The ADVENT-HF Trial Recruiting NCT01128816 Phase 4
21 Evaluation of Nocturnal Oxygen Needs in the Treatment of Central Sleep Apnea in Patients With Chronic Heart Failure. Recruiting NCT03254212 Phase 4
22 Effect of Preoperative Gabapentin on Postoperative Pain Associated With Ureteroscopy and Stents Insertion: a Double Blind, Randomized, Placebo Controlled Trial Recruiting NCT03151746 Phase 4 Placebo;Gabapentin
23 Effect of Acetazolamide on Central Sleep Apnea Related to Opium Consumption Enrolling by invitation NCT02371473 Phase 4 Acetazolamide-placebo;Placebo-acetazolamide
24 A Randomized Double Blind Trial Comparing Reversal With Low Doses Of Sugammadex aFter Rocuronium-induced Neuromuscular Block Under General Anesthesia in Patients Undergoing Non-cardiac Surgery(TOF TRIAL) Not yet recruiting NCT03460509 Phase 4 Sugammadex
25 Effect of Servo-Ventilation on CO2 Regulation and Heart Rate Variability Not yet recruiting NCT03890939 Phase 4
26 Salt Replacement for Metabolic Alkalosis in Acute Exacerbations of Cystic Fibrosis Unknown status NCT00163852 Phase 2, Phase 3 Normal saline IV, salt tablets
27 Assessment of Desogestrel for a Pharmacological Recovery of Ventilatory Activity in Congenital Central Hypoventilation Syndrome - Ondine Syndrome Completed NCT01243697 Phase 2, Phase 3 desogestrel
28 Efficacy of Fluoxetine Against Seizure-induced Central Apneas : a Randomized Placebo-controled Double-blind Trial. Completed NCT02569970 Phase 3 fluoxetine 20 mg;placebo 20 mg
29 Effects of Acetazolamide on the Duration of Mechanical Ventilation in Patients With Metabolic Alkalosis. Phase III Multicenter Double-blinded Clinical Trial. Completed NCT01499485 Phase 3 Acetazolamide;Placebo
30 The Evaluation of the Astral VAPS AutoEPAP Treatment Algorithm Completed NCT02683772 Phase 3
31 ARIES-3: A Phase 3, Long-Term, Open-Label, Multicenter Safety and Efficacy Study of Ambrisentan in Subjects With Pulmonary Hypertension Completed NCT00380068 Phase 3 Ambrisentan
32 Bicentric Study of the Effect of Inhaled Nitric Oxide Compared to Placebo in Acute Chest Syndrome of Adult Sickle Cell Patients Completed NCT00748423 Phase 2, Phase 3 Nitric Oxide;Placebo
33 Validation of the AVAPS AE Algorithm in Chronic Obstructive Pulmonary Disease: A Non-randomised Pilot Study Completed NCT01601977 Phase 2, Phase 3
34 The Influence of Age on Bispectral Index Associated With Propofol-induced Sedation Completed NCT02046720 Phase 3 Propofol induced sedation
35 The Impact of Concomitant Ultra Low Dose Infusion Naloxone and Therapeutic Infusion Opioid on Opioid Requirements in Pediatric ICU Patients Completed NCT00286052 Phase 3 Low Dose Naloxone
36 The Impact of Low Flow Nocturnal Oxygen Therapy on Hospital Admissions and Mortality in Patients With Heart Failure and Central Sleep Apnea (LOFT-HF) Recruiting NCT03745898 Phase 3 Oxygen
37 Medium Cost Effectiveness of Automated Non-Invasive Ventilation Outpatient Set Up vs Standard Fixed Level Non-Invasive Ventilation Inpatient Set Up In Obese Patients With Chronic Respiratory Failure Recruiting NCT02342899 Phase 3
38 Study of Efficacy and Tolerance of Early Launching of Nocturnal Non Invasive Ventilation in Adults With Myotonic Dystrophy Type 1(DM1) Active, not recruiting NCT01225614 Phase 3
39 Birth Asphyxia in Uganda: Prevalence, Associated Factors and Effect of Intrapartum Oxygen Administration on Fetal and Early Neonatal Outcomes Not yet recruiting NCT04043299 Phase 3 100% Oxygen
40 Buspirone as a Potential Treatment for Recurrent Central Apneas Terminated NCT00746954 Phase 3 Acetazolamide;Buspirone
41 Can Diaphragm Pacing Delay Non Invasive Ventilation in Amyotrophic Lateral Sclerosis ? a Randomized Controlled Study Terminated NCT01583088 Phase 3
42 Dynamic Carbon Dioxide Administration for Central Sleep Apnoea in Heart Failure Unknown status NCT01041924 Phase 2
43 Multi-Center, Randomized Controlled Study of the NeuRx® Diaphragm Pacing System™ (DPS)In Participants With Amyotrophic Lateral Sclerosis (ALS) Unknown status NCT01938495 Phase 2
44 Safety and Efficacy Evaluation of Respicardia Therapy for Central Sleep Apnea Completed NCT01124370 Phase 2
45 A Clinical Trial to Optimise Patient-ventilator Interaction in Patients With Chronic Respiratory Failure Completed NCT01371149 Phase 2
46 Effectiveness and Safety of Continuous Negative External Pressure (cNEP) in Preventing Sedation-Related Respiratory Impairment in Adults Undergoing Colonoscopy Completed NCT01895062 Phase 1, Phase 2
47 Pilot 2: Glucagon-like Peptide-1 in Sleep Disordered Breathing Completed NCT01832532 Phase 1, Phase 2 liraglutide
48 Preoperative Oral Methadone for Patients Undergoing Cardiac Surgery: Reduction of Postoperative Pain Completed NCT02774499 Phase 2 Methadone;Placebo
49 Bilateral Continous Thoracic Paravertebral Block Versus IV Fentanyl Infusion For Perioperative Analgesia in Patients Undergoing Cardiac Surgery Through Median Sternotomy Recruiting NCT03903367 Phase 1, Phase 2 Fentanyl Citrate
50 Improving Sleep and Functioning in Veterans With Posttraumatic Stress Disorder Not yet recruiting NCT04007796 Phase 2

Search NIH Clinical Center for Central Hypoventilation Syndrome, Congenital

Inferred drug relations via UMLS 72 / NDF-RT 51 :


Medroxyprogesterone
medroxyprogesterone acetate

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 29 ASCL1 EDN3 GDNF PHOX2B RET
2 Haddad Syndrome 29

Anatomical Context for Central Hypoventilation Syndrome, Congenital

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

41
Heart, Lung, Testes, Eye, Skin, Brain, Colon

Publications for Central Hypoventilation Syndrome, Congenital

Articles related to Central Hypoventilation Syndrome, Congenital:

(show top 50) (show all 488)
# Title Authors PMID Year
1
PHOX2B mutation-confirmed congenital central hypoventilation syndrome: presentation in adulthood. 9 38 4 8 71
16873766 2006
2
PHOX2B genotype allows for prediction of tumor risk in congenital central hypoventilation syndrome. 9 38 4 8 71
15657873 2005
3
Noradrenergic neuronal development is impaired by mutation of the proneural HASH-1 gene in congenital central hypoventilation syndrome (Ondine's curse). 9 38 4 8 71
14532329 2003
4
Endothelin-3 frameshift mutation in congenital central hypoventilation syndrome. 9 38 4 8 71
8696331 1996
5
Polyalanine expansion and frameshift mutations of the paired-like homeobox gene PHOX2B in congenital central hypoventilation syndrome. 38 4 8 71
12640453 2003
6
Idiopathic congenital central hypoventilation syndrome: evaluation of brain-derived neurotrophic factor genomic DNA sequence variation. 38 4 8 71
11840487 2002
7
Late-onset central hypoventilation with hypothalamic dysfunction: a distinct clinical syndrome. 38 4 8 71
10613788 2000
8
Mutations of the RET-GDNF signaling pathway in Ondine's curse. 4 8 71
9497256 1998
9
Idiopathic congenital central hypoventilation syndrome: analysis of genes pertinent to early autonomic nervous system embryologic development and identification of mutations in PHOX2b. 9 38 4 8
14608649 2003
10
An official ATS clinical policy statement: Congenital central hypoventilation syndrome: genetic basis, diagnosis, and management. 38 4 71
20208042 2010
11
Molecular analysis of congenital central hypoventilation syndrome. 38 4 8
14566559 2003
12
Genetic segregation analysis of autonomic nervous system dysfunction in families of probands with idiopathic congenital central hypoventilation syndrome. 38 4 8
11343309 2001
13
Case/control family study of autonomic nervous system dysfunction in idiopathic congenital central hypoventilation syndrome. 38 4 8
11343310 2001
14
Idiopathic congenital central hypoventilation syndrome: diagnosis and management. American Thoracic Society. 38 4 8
10390427 1999
15
Congenital central hypoventilation syndrome: inheritance and relation to sudden infant death syndrome. 38 4 8
8135282 1993
16
Mutations of the RET gene in isolated and syndromic Hirschsprung's disease in human disclose major and modifier alleles at a single locus. 4 8
16443855 2006
17
PHOX2B mutations and polyalanine expansions correlate with the severity of the respiratory phenotype and associated symptoms in both congenital and late onset Central Hypoventilation syndrome. 4 8
15121777 2004
18
Primary alveolar hypoventilation (Ondine's curse syndrome) in an infant without external arcuate nucleus. Case report. 4 8
497494 1979
19
Inheritance of polyalanine expansion mutation of PHOX2B in congenital central hypoventilation syndrome. 38 8
22437207 2012
20
Congenital central hypoventilation syndrome: genotype-phenotype correlation in parents of affected children carrying a PHOX2B expansion mutation. 38 8
20236122 2010
21
Chemosensitivity recovery in Ondine's curse syndrome under treatment with desogestrel. 9 38 4
20303419 2010
22
Later-onset congenital central hypoventilation syndrome due to a heterozygous 24-polyalanine repeat expansion mutation in the PHOX2B gene. 9 38 4
18798833 2009
23
De novo polyalanine expansion of PHOX2B in congenital central hypoventilation syndrome: unequal sister chromatid exchange during paternal gametogenesis. 38 71
17928950 2007
24
Congenital central hypoventilation syndrome: PHOX2B mutations and phenotype. 9 38 4
16888290 2006
25
Characterization of dermatoglyphics in PHOX2B-confirmed congenital central hypoventilation syndrome. 9 38 4
16882781 2006
26
Molecular consequences of PHOX2B missense, frameshift and alanine expansion mutations leading to autonomic dysfunction. 9 38 4
16249188 2005
27
Congenital central hypoventilation syndrome and Hirschsprung's disease in an extremely preterm infant. 9 38 4
15930201 2005
28
The Phox2B homeobox gene is mutated in sporadic neuroblastomas. 9 38 4
15516980 2004
29
Haploinsufficiency for Phox2b in mice causes dilated pupils and atrophy of the ciliary ganglion: mechanistic insights into human congenital central hypoventilation syndrome. 9 38 4
15150159 2004
30
Congenital Central Hypoventilation Syndrome 38 71
20301600 2004
31
Association of germline mutations and polymorphisms of the RET proto-oncogene with idiopathic congenital central hypoventilation syndrome in 33 patients. 9 38 4
12566528 2003
32
Idiopathic congenital central hypoventilation syndrome: the next generation. 38 8
12239719 2002
33
Congenital central hypoventilation syndrome: a novel mutation of the RET gene in an isolated case. 38 71
12086152 2002
34
Congenital central hypoventilation syndrome associated with Hirschsprung's disease: mutation analysis of the RET and endothelin-signaling pathways. 9 38 4
11719874 2001
35
RET proto-oncogene is important for the development of respiratory CO2 sensitivity. 38 8
9138245 1997
36
Congenital central hypoventilation syndrome: mutation analysis of the receptor tyrosine kinase RET. 38 8
8826440 1996
37
Congenital central hypoventilation syndrome associated with multiple ganglioneuromas. 38 8
2752827 1989
38
Congenital central hypoventilation syndrome and Hirschsprung's disease in half sibs. 38 8
2654399 1989
39
Congenital central hypoventilation syndrome in monozygotic twins. 38 8
3183842 1988
40
Long-term follow-up of children with congenital central hypoventilation syndrome. 38 8
2442698 1987
41
Residual chemosensitivity to ventilatory challenges in genotyped congenital central hypoventilation syndrome. 38 4
24381123 2014
42
Germline mosaicism of PHOX2B mutation accounts for familial recurrence of congenital central hypoventilation syndrome (CCHS). 38 4
22821709 2012
43
Pupillometry in congenital central hypoventilation syndrome (CCHS): quantitative evidence of autonomic nervous system dysregulation. 38 4
22278185 2012
44
Variable human phenotype associated with novel deletions of the PHOX2B gene. 38 4
21830319 2012
45
Low amounts of PHOX2B expanded alleles in asymptomatic parents suggest unsuspected recurrence risk in congenital central hypoventilation syndrome. 38 4
21336852 2011
46
Comparison of PHOX2B testing methods in the diagnosis of congenital central hypoventilation syndrome and mosaic carriers. 38 4
21051998 2010
47
Congenital central hypoventilation syndrome and the PHOX2B gene: a model of respiratory and autonomic dysregulation. 38 4
20601214 2010
48
Carbon dioxide chemoreception and hypoventilation syndromes with autonomic dysregulation. 38 4
20110549 2010
49
Congenital central hypoventilation syndrome from past to future: model for translational and transitional autonomic medicine. 38 4
19422034 2009
50
Congenital central hypoventilation syndrome: PHOX2B genotype determines risk for sudden death. 38 4
18041756 2008

Variations for Central Hypoventilation Syndrome, Congenital

ClinVar genetic disease variations for Central Hypoventilation Syndrome, Congenital:

6 (show top 50) (show all 222)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 PHOX2B NM_003924.3(PHOX2B): c.753_767dup (p.Ala256_Ala260dup) duplication Pathogenic rs779557320 4:41748002-41748016 4:41745985-41745999
2 PHOX2B NM_003924.3(PHOX2B): c.729_749dup (p.Ala254_Ala260dup) duplication Pathogenic rs772448418 4:41748025-41748045 4:41746008-41746028
3 PHOX2B NM_003924.3(PHOX2B): c.220C> T (p.Gln74Ter) single nucleotide variant Pathogenic rs1297909281 4:41750408-41750408 4:41748391-41748391
4 PHOX2B NP_003915.2: p.Ala260(5_9) NT expansion Pathogenic
5 PHOX2B NM_003924.3(PHOX2B): c.618dup (p.Ser207fs) duplication Pathogenic rs587776626 4:41748151-41748151 4:41746134-41746134
6 PHOX2B PHOX2B, 37-BP DEL, NT722 deletion Pathogenic
7 RET NM_020630.5(RET): c.1852T> G (p.Cys618Gly) single nucleotide variant Pathogenic rs76262710 10:43609096-43609096 10:43113648-43113648
8 ASCL1 NM_004316.4(ASCL1): c.52C> A (p.Pro18Thr) single nucleotide variant Pathogenic rs267606667 12:103352074-103352074 12:102958296-102958296
9 ASCL1 ASCL1, 15-BP DEL, NT111 deletion Pathogenic
10 ASCL1 ASCL1, 24-BP DEL, NT108 deletion Pathogenic
11 PMPCA NM_015160.3(PMPCA): c.1066G> A (p.Gly356Ser) single nucleotide variant Pathogenic rs768643552 9:139313082-139313082 9:136418630-136418630
12 PMPCA NM_015160.3(PMPCA): c.1129G> A (p.Ala377Thr) single nucleotide variant Pathogenic rs753611141 9:139313299-139313299 9:136418847-136418847
13 RET NM_020630.5(RET): c.2410G> A (p.Val804Met) single nucleotide variant Pathogenic/Likely pathogenic rs79658334 10:43614996-43614996 10:43119548-43119548
14 RET NM_020630.5(RET): c.1947G> A (p.Ser649=) single nucleotide variant Pathogenic/Likely pathogenic rs377767412 10:43609995-43609995 10:43114547-43114547
15 PHOX2B NM_003924.3(PHOX2B): c.618del (p.Ser207fs) deletion Likely pathogenic 4:41748151-41748151 4:41746138-41746138
16 PHOX2B NM_003924.3(PHOX2B): c.270C> T (p.Gly90=) single nucleotide variant Conflicting interpretations of pathogenicity rs1420633452 4:41749525-41749525 4:41747508-41747508
17 PHOX2B NM_003924.3(PHOX2B): c.508G> C (p.Gly170Arg) single nucleotide variant Uncertain significance rs775931264 4:41748261-41748261 4:41746244-41746244
18 RET NM_020630.5(RET): c.2945G> A (p.Arg982His) single nucleotide variant Uncertain significance rs368550200 10:43620336-43620336 10:43124888-43124888
19 PHOX2B NM_003924.3(PHOX2B): c.694C> A (p.Pro232Thr) single nucleotide variant Uncertain significance rs1433654836 4:41748075-41748075 4:41746058-41746058
20 PHOX2B NM_003924.3(PHOX2B): c.683G> T (p.Gly228Val) single nucleotide variant Uncertain significance rs1335294030 4:41748086-41748086 4:41746069-41746069
21 PHOX2B NM_003924.3(PHOX2B): c.639C> T (p.Gly213=) single nucleotide variant Uncertain significance rs17879258 4:41748130-41748130 4:41746113-41746113
22 PHOX2B NM_003924.3(PHOX2B): c.603T> A (p.Asn201Lys) single nucleotide variant Uncertain significance rs1553897857 4:41748166-41748166 4:41746149-41746149
23 PHOX2B NM_003924.3(PHOX2B): c.487G> T (p.Ala163Ser) single nucleotide variant Uncertain significance rs767837376 4:41748282-41748282 4:41746265-41746265
24 PHOX2B NM_003924.3(PHOX2B): c.335A> T (p.Glu112Val) single nucleotide variant Uncertain significance rs1553898048 4:41749460-41749460 4:41747443-41747443
25 PHOX2B NM_003924.3(PHOX2B): c.170G> A (p.Cys57Tyr) single nucleotide variant Uncertain significance rs1553898212 4:41750458-41750458 4:41748441-41748441
26 PHOX2B NM_003924.3(PHOX2B): c.398T> A (p.Leu133Gln) single nucleotide variant Uncertain significance rs1553898022 4:41749397-41749397 4:41747380-41747380
27 PHOX2B NM_003924.3(PHOX2B): c.391C> G (p.Leu131Val) single nucleotide variant Uncertain significance rs748614674 4:41749404-41749404 4:41747387-41747387
28 PHOX2B NM_003924.3(PHOX2B): c.56C> G (p.Ala19Gly) single nucleotide variant Uncertain significance rs1353983410 4:41750572-41750572 4:41748555-41748555
29 PHOX2B NM_003924.3(PHOX2B): c.785G> T (p.Gly262Val) single nucleotide variant Uncertain significance rs768420488 4:41747984-41747984 4:41745967-41745967
30 PHOX2B NM_003924.3(PHOX2B): c.676G> C (p.Ala226Pro) single nucleotide variant Uncertain significance rs936469212 4:41748093-41748093 4:41746076-41746076
31 PHOX2B NM_003924.3(PHOX2B): c.636_641dup (p.Gly216_Gly217dup) duplication Uncertain significance rs1553897847 4:41748128-41748133 4:41746111-41746116
32 PHOX2B NM_003924.3(PHOX2B): c.146C> A (p.Thr49Asn) single nucleotide variant Uncertain significance rs559227588 4:41750482-41750482 4:41748465-41748465
33 PHOX2B NM_003924.3(PHOX2B): c.929A> G (p.Lys310Arg) single nucleotide variant Uncertain significance rs767873201 4:41747840-41747840 4:41745823-41745823
34 PHOX2B NM_003924.3(PHOX2B): c.323C> T (p.Ala108Val) single nucleotide variant Uncertain significance rs956551152 4:41749472-41749472 4:41747455-41747455
35 PHOX2B NM_003924.3(PHOX2B): c.718G> A (p.Gly240Ser) single nucleotide variant Uncertain significance rs1183113572 4:41748051-41748051 4:41746034-41746034
36 ACO2 NM_001098.3(ACO2): c.75C> T (p.Val25=) single nucleotide variant Uncertain significance rs1057518833 22:41895768-41895768 22:41499764-41499764
37 ACO2 NM_001098.3(ACO2): c.76C> T (p.Leu26=) single nucleotide variant Uncertain significance rs1057518832 22:41895769-41895769 22:41499765-41499765
38 ACO2 NM_001098.3(ACO2): c.1395G> C (p.Lys465Asn) single nucleotide variant Uncertain significance rs746964497 22:41919858-41919858 22:41523854-41523854
39 ACO2 NM_001098.3(ACO2): c.1397A> C (p.Asn466Thr) single nucleotide variant Uncertain significance rs1057518831 22:41919860-41919860 22:41523856-41523856
40 PHOX2B NM_003924.3(PHOX2B): c.719G> A (p.Gly240Asp) single nucleotide variant Uncertain significance rs917558720 4:41748050-41748050 4:41746033-41746033
41 PHOX2B NM_003924.3(PHOX2B): c.633T> G (p.Asn211Lys) single nucleotide variant Uncertain significance rs1060501120 4:41748136-41748136 4:41746119-41746119
42 PHOX2B NM_003924.3(PHOX2B): c.373A> G (p.Ile125Val) single nucleotide variant Uncertain significance rs560843362 4:41749422-41749422 4:41747405-41747405
43 PHOX2B NM_003924.3(PHOX2B): c.290A> C (p.Lys97Thr) single nucleotide variant Uncertain significance rs1060501123 4:41749505-41749505 4:41747488-41747488
44 PHOX2B NM_003924.3(PHOX2B): c.670C> A (p.Pro224Thr) single nucleotide variant Uncertain significance rs1060501118 4:41748099-41748099 4:41746082-41746082
45 PHOX2B NM_003924.3(PHOX2B): c.524A> T (p.Lys175Met) single nucleotide variant Uncertain significance rs1060501119 4:41748245-41748245 4:41746228-41746228
46 PHOX2B NM_003924.3(PHOX2B): c.779C> T (p.Ala260Val) single nucleotide variant Uncertain significance rs1060501125 4:41747990-41747990 4:41745973-41745973
47 PHOX2B NM_003924.3(PHOX2B): c.730G> C (p.Ala244Pro) single nucleotide variant Uncertain significance rs1060501124 4:41748039-41748039 4:41746022-41746022
48 PHOX2B NM_003924.3(PHOX2B): c.88T> G (p.Tyr30Asp) single nucleotide variant Uncertain significance rs1060501122 4:41750540-41750540 4:41748523-41748523
49 RET NM_020630.5(RET): c.1151C> G (p.Pro384Arg) single nucleotide variant Uncertain significance rs771679592 10:43604566-43604566 10:43109118-43109118
50 RET NM_020630.5(RET): c.1448A> G (p.Tyr483Cys) single nucleotide variant Uncertain significance rs752322996 10:43606839-43606839 10:43111391-43111391

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

74
# 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

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:

37
# 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 TLX2 PHOX2B ASCL1
2 11.38 TLX3 TH RET PHOX2B PHOX2A BDNF
3 11.15 TH GDNF BDNF ASCL1
4 10.81 TH RET ASCL1
5
Show member pathways
10.66 TH DBH

GO Terms for Central Hypoventilation Syndrome, Congenital

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

(show all 26)
# Name GO ID Score Top Affiliating Genes
1 nervous system development GO:0007399 9.97 RET GDNF EDNRB BDNF ASCL1
2 regulation of gene expression GO:0010468 9.86 PHOX2B GDNF EDN3 ASCL1
3 neuron migration GO:0001764 9.79 TLX3 PHOX2B ASCL1
4 memory GO:0007613 9.74 TH DBH BDNF
5 negative regulation of neuron differentiation GO:0045665 9.71 TLX3 PHOX2B ASCL1
6 neuron differentiation GO:0030182 9.65 TLX3 RET PHOX2B EDN3 ASCL1
7 dopaminergic neuron differentiation GO:0071542 9.62 PHOX2B PHOX2A
8 melanocyte differentiation GO:0030318 9.62 EDNRB EDN3
9 vasoconstriction GO:0042310 9.61 EDNRB EDN3
10 peripheral nervous system development GO:0007422 9.61 GDNF EDNRB BDNF
11 glial cell differentiation GO:0010001 9.6 PHOX2B ASCL1
12 neuron fate specification GO:0048665 9.59 TLX3 ASCL1
13 regulation of respiratory gaseous exchange by neurological system process GO:0002087 9.58 TLX3 PHOX2B
14 sympathetic ganglion development GO:0061549 9.55 PHOX2B ASCL1
15 norepinephrine biosynthetic process GO:0042421 9.52 TH DBH
16 catecholamine biosynthetic process GO:0042423 9.51 TH DBH
17 response to pain GO:0048265 9.5 RET EDNRB DBH
18 noradrenergic neuron differentiation GO:0003357 9.49 PHOX2B PHOX2A
19 vein smooth muscle contraction GO:0014826 9.48 EDNRB EDN3
20 noradrenergic neuron development GO:0003358 9.46 PHOX2B ASCL1
21 neural crest cell migration GO:0001755 9.46 RET GDNF EDNRB EDN3
22 posterior midgut development GO:0007497 9.4 RET EDNRB
23 parasympathetic nervous system development GO:0048486 9.37 PHOX2B PHOX2A
24 sympathetic nervous system development GO:0048485 9.26 PHOX2B PHOX2A GDNF ASCL1
25 enteric nervous system development GO:0048484 9.02 TLX2 RET PHOX2B GDNF EDNRB
26 multicellular organism development GO:0007275 10.1 TLX3 TLX2 PHOX2B EDN3 DBX1 ASCL1

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

# Name GO ID Score Top Affiliating Genes
1 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.5 ZNF202 TLX3 TLX2 PHOX2B PHOX2A DBX1
2 sequence-specific DNA binding GO:0043565 9.1 TLX3 TLX2 PHOX2B PHOX2A DBX1 ASCL1

Sources for Central Hypoventilation Syndrome, Congenital

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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