CCHS
MCID: CNT097
MIFTS: 71

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 56 73 54
Congenital Central Hypoventilation Syndrome 12 74 24 52 25 73 36 43 15
Cchs 56 12 74 52 25 58 73
Haddad Syndrome 56 25 58 29 6
Congenital Central Hypoventilation 25 29 6 71
Congenital Central Alveolar Hypoventilation Syndrome 12 58 71
Congenital Failure of Autonomic Control 52 25 73
Ondine Syndrome 12 25 58
Ondine Curse 12 58 73
Central Congenital Hypoventilation Syndrome 12 58
Central Hypoventilation Syndrome 56 13
Ondine-Hirschsprung Disease 25 58
Hypoventilation 43 71
Central Hypoventilation Syndrome, Congenital, with or Without Hirschsprung Disease 56
Congenital Central Alveolar Hypoventilation-Hirschsprung Disease Syndrome 58
Idiopathic Congenital Central Alveolar Hypoventilation 52
Syndrome, Hypoventilation, Central, Congenital 39
Primary Alveolar Hypoventilation Syndrome 36
Central Alveolar Hypoventilation Syndrome 71
Autonomic Control, Congenital Failure of 56
Sleep-Related Respiratory Failure 71
Primary Alveolar Hypoventilation 52
Cchs with Hirschsprung Disease 71
Ondine-Hirschsprung Syndrome 58
Ondine Curse, Congenital 56
Congenital Ondine Curse 52
Central Hypoventilation 6
Sleep Apnea, Central 71
Ondine's Curse 74

Characteristics:

Orphanet epidemiological data:

58
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:

56
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:
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:

Orphanet: 58  
Rare neurological diseases
Rare eye diseases
Rare gastroenterological diseases
Rare respiratory diseases
Developmental anomalies during embryogenesis


Summaries for Central Hypoventilation Syndrome, Congenital

Genetics Home Reference : 25 Congenital central hypoventilation syndrome (CCHS) is a disorder that affects normal 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 nervous system reaction is impaired in people with CCHS. 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 when affected infants hypoventilate upon falling asleep. In these infants, a lack of oxygen in the blood often causes a bluish appearance of the skin or lips (cyanosis). In some milder cases, CCHS may not become apparent until later in life. In addition to the breathing problem, people with CCHS may have difficulty regulating their heart rate and blood pressure, for example, in response to exercise or changes in body position. They also have decreased perception of pain, low body temperature, and occasional episodes of heavy sweating. People with CCHS may have additional problems affecting the nervous system. About 20 percent of people with CCHS have abnormalities in the nerves that control the digestive tract (Hirschsprung disease), resulting in severe constipation, intestinal blockage, and enlargement of the colon. (Some researchers refer to the combination of CCHS and Hirschsprung disease as Haddad syndrome.) Some affected individuals develop learning difficulties or other neurological problems. People with CCHS are also at increased risk of developing certain tumors of the nervous system called neuroblastomas, ganglioneuromas, and ganglioneuroblastomas. Additionally, individuals with CCHS usually have eye abnormalities, including a decreased response of the pupils to light. People with CCHS, especially children, may have a characteristic appearance with a short, wide, somewhat flattened face often described as "box-shaped." In CCHS, life expectancy and the extent of any intellectual 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 stroke, ischemic and intestinal obstruction, and has symptoms including dyspnea, hemoptysis and constipation. 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 Opium have been mentioned in the context of this disorder. Affiliated tissues include heart, lung and testes, and related phenotypes are failure to thrive and strabismus

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 : 52 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 : 56 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 : 36 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 : 73 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 : 74 Central hypoventilation syndrome (CHS) is a respiratory disorder that causes ineffective breathing,... 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 432)
# Related Disease Score Top Affiliating Genes
1 stroke, ischemic 31.1 TH GDNF EDNRB BDNF
2 intestinal obstruction 31.0 RET GDNF EDNRB EDN3
3 constipation 30.9 TH RET GDNF EDNRB EDN3 BDNF
4 hirschsprung disease 1 30.9 TLX2 RET PHOX2B PHOX2A GDNF EDNRB
5 sudden infant death syndrome 30.7 TLX3 TH RET PHOX2B PHOX2A BDNF
6 neuroblastoma 30.7 TH RET PHOX2B GDNF DBH BDNF
7 megacolon 30.6 TLX2 RET PHOX2B GDNF EDNRB EDN3
8 pheochromocytoma 30.6 TH RET GDNF EDN3 DBH ASCL1
9 neuropathy, hereditary sensory and autonomic, type iii 30.5 DBH BDNF ASCL1
10 obesity-hypoventilation syndrome 12.8
11 hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities 12.6
12 rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome 12.4
13 idiopathic alveolar hypoventilation syndrome 12.3
14 perry syndrome 11.7
15 pulmonary hemosiderosis 11.7
16 nemaline myopathy 11.5
17 nemaline myopathy 3 11.4
18 athabaskan brainstem dysgenesis syndrome 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-related neurodevelopmental disorders 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 10.7 EDNRB EDN3
43 hypoganglionosis 10.7 TH RET GDNF
44 waardenburg syndrome, type 2c 10.7 EDNRB EDN3
45 autonomic nervous system benign neoplasm 10.6 TH RET PHOX2B
46 multiple mucosal neuroma 10.6 RET GDNF
47 peripheral nervous system benign neoplasm 10.6 TH RET PHOX2B
48 neonatal hypoxic and ischemic brain injury 10.6 TH BDNF
49 waardenburg syndrome, type 4a 10.6 RET EDNRB EDN3
50 intestinal pseudo-obstruction 10.6 TLX2 RET EDN3

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:

58 31 (show all 40)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 failure to thrive 58 31 hallmark (90%) Very frequent (99-80%) HP:0001508
2 strabismus 58 31 hallmark (90%) Very frequent (99-80%) HP:0000486
3 respiratory insufficiency 58 31 hallmark (90%) Very frequent (99-80%) HP:0002093
4 aganglionic megacolon 58 31 occasional (7.5%) Occasional (29-5%),Very frequent (99-80%) HP:0002251
5 small for gestational age 58 31 hallmark (90%) Very frequent (99-80%) HP:0001518
6 breathing dysregulation 58 31 hallmark (90%) Very frequent (99-80%) HP:0005957
7 central hypoventilation 58 31 hallmark (90%) Very frequent (99-80%) HP:0007110
8 central sleep apnea 58 31 hallmark (90%) Very frequent (99-80%) HP:0010536
9 abnormal autonomic nervous system physiology 31 hallmark (90%) HP:0012332
10 intellectual disability 58 31 frequent (33%) Frequent (79-30%) HP:0001249
11 muscular hypotonia 58 31 occasional (7.5%) Occasional (29-5%),Frequent (79-30%) HP:0001252
12 gastroesophageal reflux 58 31 frequent (33%) Frequent (79-30%) HP:0002020
13 seizure 31 occasional (7.5%) HP:0001250
14 sensorineural hearing impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0000407
15 cognitive impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0100543
16 polyhydramnios 58 31 occasional (7.5%) Occasional (29-5%) HP:0001561
17 decreased fetal movement 58 31 occasional (7.5%) Occasional (29-5%) HP:0001558
18 neuroblastoma 58 31 occasional (7.5%) Occasional (29-5%),Occasional (29-5%) HP:0003006
19 oligohydramnios 58 31 occasional (7.5%) Occasional (29-5%) HP:0001562
20 ganglioneuroma 58 31 occasional (7.5%) Occasional (29-5%),Occasional (29-5%) HP:0003005
21 ganglioneuroblastoma 58 31 occasional (7.5%) Occasional (29-5%) HP:0006747
22 seizures 58 Occasional (29-5%),Frequent (79-30%)
23 hyperhidrosis 31 HP:0000975
24 abnormality of the cardiovascular system 31 HP:0001626
25 feeding difficulties 31 HP:0011968
26 low-set ears 31 HP:0000369
27 abnormality of temperature regulation 31 HP:0004370
28 downslanted palpebral fissures 31 HP:0000494
29 neoplasm of the central nervous system 58 Occasional (29-5%)
30 death in infancy 58 Frequent (79-30%)
31 constipation 31 HP:0002019
32 apnea 31 HP:0002104
33 abnormality of the mouth 31 HP:0000153
34 hypoxemia 31 HP:0012418
35 posteriorly rotated ears 31 HP:0000358
36 dysautonomia 58 Very frequent (99-80%)
37 abnormality of the autonomic nervous system 58 Very frequent (99-80%)
38 autonomic dysregulation 58 Very frequent (99-80%)
39 hypoventilation 31 HP:0002791
40 hypercapnia 31 HP:0012416

Symptoms via clinical synopsis from OMIM:

56
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:


dyspnea, hemoptysis, constipation, apnea, 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:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.41 ASCL1 ATOH1 BDNF DBH DBX1 EDN3
2 mortality/aging MP:0010768 10.32 ASCL1 ATOH1 BDNF DBH DBX1 EDN3
3 growth/size/body region MP:0005378 10.31 ASCL1 BDNF DBH DBX1 EDNRB GDNF
4 homeostasis/metabolism MP:0005376 10.22 ATOH1 BDNF DBH DBX1 EDNRB GPR4
5 nervous system MP:0003631 10.21 ASCL1 ATOH1 BDNF DBH DBX1 EDN3
6 integument MP:0010771 10.07 ASCL1 ATOH1 BDNF DBH EDN3 EDNRB
7 digestive/alimentary MP:0005381 10.06 ATOH1 BDNF EDN3 EDNRB GDNF RET
8 no phenotypic analysis MP:0003012 9.76 ASCL1 ATOH1 BDNF DBX1 PHOX2A RET
9 normal MP:0002873 9.65 ASCL1 ATOH1 BDNF DBH DBX1 LBX1
10 respiratory system MP:0005388 9.44 ASCL1 ATOH1 BDNF DBX1 EDNRB GPR4

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 195)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Zopiclone Approved Phase 4 43200-80-2 5735
2
Opium Approved, Illicit Phase 4 8008-60-4
3
Riluzole Approved, Investigational Phase 4 1744-22-5 5070
4
Fentanyl Approved, Illicit, Investigational, Vet_approved Phase 4 437-38-7 3345
5
Propofol Approved, Investigational, Vet_approved Phase 4 2078-54-8 4943
6
Celecoxib Approved, Investigational Phase 4 169590-42-5 2662
7
Acetaminophen Approved Phase 4 103-90-2 1983
8
Magnesium Sulfate Approved, Investigational, Vet_approved Phase 4 7487-88-9 24083
9
Naloxone Approved, Vet_approved Phase 4 465-65-6 5284596
10
Oxycodone Approved, Illicit, Investigational Phase 4 76-42-6 5284603
11
tannic acid Approved Phase 4 1401-55-4
12
Benzocaine Approved, Investigational Phase 4 94-09-7, 1994-09-7 2337
13
Rocuronium Approved Phase 4 119302-91-9, 143558-00-3 441290
14
Remifentanil Approved Phase 4 132875-61-7 60815
15
Dexmedetomidine Approved, Vet_approved Phase 4 113775-47-6 5311068 68602
16
Alfentanil Approved, Illicit Phase 4 71195-58-9 51263
17
Methadone Approved Phase 4 76-99-3 4095
18
Guaifenesin Approved, Investigational, Vet_approved Phase 4 93-14-1 3516
19
Neostigmine Approved, Vet_approved Phase 4 59-99-4 4456
20
Eplerenone Approved Phase 4 107724-20-9 150310 443872
21
Gabapentin Approved, Investigational Phase 4 60142-96-3 3446
22
Acetazolamide Approved, Vet_approved Phase 4 59-66-5 1986
23
Buspirone Approved, Investigational Phase 4 36505-84-7 2477
24
Promethazine Approved, Investigational Phase 4 60-87-7 4927
25
Diphenhydramine Approved, Investigational Phase 4 58-73-1, 147-24-0 3100
26
Zolpidem Approved Phase 4 82626-48-0 5732
27 Opium Poppy Phase 4
28 Hormones Phase 4
29 Hormone Antagonists Phase 4
30 Narcotics Phase 4
31 Analgesics, Non-Narcotic Phase 4
32 Antirheumatic Agents Phase 4
33 Cyclooxygenase 2 Inhibitors Phase 4
34 Antipyretics Phase 4
35 Cyclooxygenase Inhibitors Phase 4
36 Anti-Inflammatory Agents, Non-Steroidal Phase 4
37 Pharmaceutical Solutions Phase 4
38 Anti-Arrhythmia Agents Phase 4
39 Tocolytic Agents Phase 4
40 Calcium, Dietary Phase 4
41 calcium channel blockers Phase 4
42 Antihypertensive Agents Phase 4
43 Narcotic Antagonists Phase 4
44 Opiate Alkaloids Phase 4
45 Respiratory System Agents Phase 4
46 Anti-Bacterial Agents Phase 4
47 Antibiotics, Antitubercular Phase 4
48 Adrenergic alpha-Agonists Phase 4
49 Adrenergic Agents Phase 4
50 Adrenergic Agonists Phase 4

Interventional clinical trials:

(show top 50) (show all 317)
# 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 Effect of Acetazolamide on Central Sleep Apnea Related to Opium Consumption Unknown status NCT02371473 Phase 4 Acetazolamide-placebo;Placebo-acetazolamide
3 Role of Non-invasive Ventilation in Amyotrophic Lateral Sclerosis: Volume Versus Pressure Mode Unknown status NCT00560287 Phase 4
4 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
5 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) Unknown status NCT03460509 Phase 4 Sugammadex
6 Cardiac Resynchronisation Therapy in Combination With Overdrive Pacing in the Treatment of Central Sleep Apnea in CHF Completed NCT00551499 Phase 4
7 Hypoventilation and High Altitude Chronic Polycythemia: Acetazolamide as a Possible Treatment Completed NCT00424970 Phase 4 acetazolamide
8 Single Dose Preoperative Gabapentin Use in Minimally Invasive Hysterectomy for Acute Pain Management Completed NCT02703259 Phase 4 Gabapentin;Acetaminophen;Celecoxib
9 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
10 Patients-ventilator Interaction During Sleep: the Role of Humidification. A Pilot Short Term Study Completed NCT01038791 Phase 4
11 Prospective, Randomized Clinical Pilot Study: Oral Opiate Targin In Treatment Of Postoperative Pain After Major Cardiac Surgery Completed NCT01816581 Phase 4 Targin;Oxynorm;Morphine
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 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
16 The Effect of Choice of Intraoperative Opioid on Postoperative Pain Completed NCT01542645 Phase 4 Methadone;Fentanyl
17 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
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 Central Sleep Apnea: Physiologic Mechanisms to Inform Treatment Not yet recruiting NCT04118387 Phase 4 Acetazolamide + supplemental oxygen + PAP therapy;Zolpidem + PAP therapy;Buspirone + PAP therapy
24 Effect of Servo-Ventilation on CO2 Regulation and Heart Rate Variability Not yet recruiting NCT03890939 Phase 4
25 Salt Replacement for Metabolic Alkalosis in Acute Exacerbations of Cystic Fibrosis Unknown status NCT00163852 Phase 2, Phase 3 Normal saline IV, salt tablets
26 Study of Efficacy and Tolerance of Early Launching of Nocturnal Non Invasive Ventilation in Adults With Myotonic Dystrophy Type 1(DM1) Unknown status NCT01225614 Phase 3
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 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 Completed NCT02342899 Phase 3
34 Validation of the AVAPS AE Algorithm in Chronic Obstructive Pulmonary Disease: A Non-randomised Pilot Study Completed NCT01601977 Phase 2, Phase 3
35 The Influence of Age on Bispectral Index Associated With Propofol-induced Sedation Completed NCT02046720 Phase 3 Propofol induced sedation
36 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
37 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
38 Buspirone as a Potential Treatment for Recurrent Central Apneas Terminated NCT00746954 Phase 3 Acetazolamide;Buspirone
39 Can Diaphragm Pacing Delay Non Invasive Ventilation in Amyotrophic Lateral Sclerosis ? a Randomized Controlled Study Terminated NCT01583088 Phase 3
40 Dynamic Carbon Dioxide Administration for Central Sleep Apnoea in Heart Failure Unknown status NCT01041924 Phase 2
41 Multi-Center, Randomized Controlled Study of the NeuRx® Diaphragm Pacing System™ (DPS)In Participants With Amyotrophic Lateral Sclerosis (ALS) Unknown status NCT01938495 Phase 2
42 Safety and Efficacy Evaluation of Respicardia Therapy for Central Sleep Apnea Completed NCT01124370 Phase 2
43 A Clinical Trial to Optimise Patient-ventilator Interaction in Patients With Chronic Respiratory Failure Completed NCT01371149 Phase 2
44 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
45 Pilot 2: Glucagon-like Peptide-1 in Sleep Disordered Breathing Completed NCT01832532 Phase 1, Phase 2 liraglutide
46 Preoperative Oral Methadone for Patients Undergoing Cardiac Surgery: Reduction of Postoperative Pain Completed NCT02774499 Phase 2 Methadone;Placebo
47 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
48 Improving Sleep and Functioning in Veterans With Posttraumatic Stress Disorder Enrolling by invitation NCT04007796 Phase 2
49 Randomized Trial Comparing Telemedicine Monitoring and Titration in Patients Initiating Non-invasive Ventilation With Usual Care (TELEMOTINIV Study) Unknown status NCT01560741 Phase 1
50 A Study to Evaluate the Efficacy of Seattle-PAP for the Respiratory Support of Premature Infants Completed NCT02210026 Phase 1

Search NIH Clinical Center for Central Hypoventilation Syndrome, Congenital

Inferred drug relations via UMLS 71 / NDF-RT 50 :


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:

40
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 507)
# Title Authors PMID Year
1
PHOX2B mutation-confirmed congenital central hypoventilation syndrome: presentation in adulthood. 56 24 54 61 6
16873766 2006
2
PHOX2B genotype allows for prediction of tumor risk in congenital central hypoventilation syndrome. 61 54 24 56 6
15657873 2005
3
Noradrenergic neuronal development is impaired by mutation of the proneural HASH-1 gene in congenital central hypoventilation syndrome (Ondine's curse). 56 54 24 61 6
14532329 2003
4
Endothelin-3 frameshift mutation in congenital central hypoventilation syndrome. 6 56 24 61 54
8696331 1996
5
Polyalanine expansion and frameshift mutations of the paired-like homeobox gene PHOX2B in congenital central hypoventilation syndrome. 24 6 56 61
12640453 2003
6
Idiopathic congenital central hypoventilation syndrome: evaluation of brain-derived neurotrophic factor genomic DNA sequence variation. 61 6 24 56
11840487 2002
7
Late-onset central hypoventilation with hypothalamic dysfunction: a distinct clinical syndrome. 61 6 24 56
10613788 2000
8
Mutations of the RET-GDNF signaling pathway in Ondine's curse. 24 56 6
9497256 1998
9
Congenital heart disease and aortic arch variants associated with mutation in PHOX2B. 56 6 61
29543228 2018
10
Idiopathic congenital central hypoventilation syndrome: analysis of genes pertinent to early autonomic nervous system embryologic development and identification of mutations in PHOX2b. 24 61 56 54
14608649 2003
11
An official ATS clinical policy statement: Congenital central hypoventilation syndrome: genetic basis, diagnosis, and management. 61 24 6
20208042 2010
12
Molecular analysis of congenital central hypoventilation syndrome. 56 24 61
14566559 2003
13
Genetic segregation analysis of autonomic nervous system dysfunction in families of probands with idiopathic congenital central hypoventilation syndrome. 24 56 61
11343309 2001
14
Case/control family study of autonomic nervous system dysfunction in idiopathic congenital central hypoventilation syndrome. 61 56 24
11343310 2001
15
Idiopathic congenital central hypoventilation syndrome: diagnosis and management. American Thoracic Society. 24 56 61
10390427 1999
16
Congenital central hypoventilation syndrome: inheritance and relation to sudden infant death syndrome. 56 24 61
8135282 1993
17
Mutations of the RET gene in isolated and syndromic Hirschsprung's disease in human disclose major and modifier alleles at a single locus. 24 56
16443855 2006
18
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. 24 56
15121777 2004
19
Primary alveolar hypoventilation (Ondine's curse syndrome) in an infant without external arcuate nucleus. Case report. 56 24
497494 1979
20
Inheritance of polyalanine expansion mutation of PHOX2B in congenital central hypoventilation syndrome. 61 56
22437207 2012
21
Congenital central hypoventilation syndrome: genotype-phenotype correlation in parents of affected children carrying a PHOX2B expansion mutation. 61 56
20236122 2010
22
Chemosensitivity recovery in Ondine's curse syndrome under treatment with desogestrel. 24 54 61
20303419 2010
23
Later-onset congenital central hypoventilation syndrome due to a heterozygous 24-polyalanine repeat expansion mutation in the PHOX2B gene. 61 54 24
18798833 2009
24
De novo polyalanine expansion of PHOX2B in congenital central hypoventilation syndrome: unequal sister chromatid exchange during paternal gametogenesis. 61 6
17928950 2007
25
Congenital central hypoventilation syndrome: PHOX2B mutations and phenotype. 54 24 61
16888290 2006
26
Characterization of dermatoglyphics in PHOX2B-confirmed congenital central hypoventilation syndrome. 61 24 54
16882781 2006
27
Molecular consequences of PHOX2B missense, frameshift and alanine expansion mutations leading to autonomic dysfunction. 54 61 24
16249188 2005
28
Congenital central hypoventilation syndrome and Hirschsprung's disease in an extremely preterm infant. 54 24 61
15930201 2005
29
The Phox2B homeobox gene is mutated in sporadic neuroblastomas. 61 24 54
15516980 2004
30
Haploinsufficiency for Phox2b in mice causes dilated pupils and atrophy of the ciliary ganglion: mechanistic insights into human congenital central hypoventilation syndrome. 24 54 61
15150159 2004
31
Congenital Central Hypoventilation Syndrome 6 61
20301600 2004
32
Association of germline mutations and polymorphisms of the RET proto-oncogene with idiopathic congenital central hypoventilation syndrome in 33 patients. 54 24 61
12566528 2003
33
Idiopathic congenital central hypoventilation syndrome: the next generation. 61 56
12239719 2002
34
Congenital central hypoventilation syndrome: a novel mutation of the RET gene in an isolated case. 6 61
12086152 2002
35
Congenital central hypoventilation syndrome associated with Hirschsprung's disease: mutation analysis of the RET and endothelin-signaling pathways. 61 24 54
11719874 2001
36
RET proto-oncogene is important for the development of respiratory CO2 sensitivity. 61 56
9138245 1997
37
Congenital central hypoventilation syndrome: mutation analysis of the receptor tyrosine kinase RET. 61 56
8826440 1996
38
Congenital central hypoventilation syndrome associated with multiple ganglioneuromas. 61 56
2752827 1989
39
Congenital central hypoventilation syndrome and Hirschsprung's disease in half sibs. 56 61
2654399 1989
40
Congenital central hypoventilation syndrome in monozygotic twins. 61 56
3183842 1988
41
Long-term follow-up of children with congenital central hypoventilation syndrome. 56 61
2442698 1987
42
Residual chemosensitivity to ventilatory challenges in genotyped congenital central hypoventilation syndrome. 61 24
24381123 2014
43
Germline mosaicism of PHOX2B mutation accounts for familial recurrence of congenital central hypoventilation syndrome (CCHS). 24 61
22821709 2012
44
Pupillometry in congenital central hypoventilation syndrome (CCHS): quantitative evidence of autonomic nervous system dysregulation. 61 24
22278185 2012
45
Variable human phenotype associated with novel deletions of the PHOX2B gene. 61 24
21830319 2012
46
Low amounts of PHOX2B expanded alleles in asymptomatic parents suggest unsuspected recurrence risk in congenital central hypoventilation syndrome. 24 61
21336852 2011
47
Comparison of PHOX2B testing methods in the diagnosis of congenital central hypoventilation syndrome and mosaic carriers. 24 61
21051998 2010
48
Congenital central hypoventilation syndrome and the PHOX2B gene: a model of respiratory and autonomic dysregulation. 61 24
20601214 2010
49
Carbon dioxide chemoreception and hypoventilation syndromes with autonomic dysregulation. 61 24
20110549 2010
50
Congenital central hypoventilation syndrome from past to future: model for translational and transitional autonomic medicine. 24 61
19422034 2009

Variations for Central Hypoventilation Syndrome, Congenital

ClinVar genetic disease variations for Central Hypoventilation Syndrome, Congenital:

6 (show top 50) (show all 285) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 PHOX2B NM_003924.3(PHOX2B):c.765_779dup (p.Ala256_Ala260dup)duplication Pathogenic 429242 rs761018157 4:41747989-41747990 4:41745972-41745973
2 PHOX2B NM_003924.3(PHOX2B):c.753_767dup (p.Ala256_Ala260dup)duplication Pathogenic 505021 rs779557320 4:41748001-41748002 4:41745984-41745985
3 PHOX2B NM_003924.3(PHOX2B):c.729_749dup (p.Ala254_Ala260dup)duplication Pathogenic 506167 rs772448418 4:41748019-41748020 4:41746002-41746003
4 PHOX2B NM_003924.4(PHOX2B):c.741_755dup (p.Ala256_Ala260dup)duplication Pathogenic 802070 4:41748013-41748014 4:41745996-41745997
5 PHOX2B NM_003924.3(PHOX2B):c.220C>T (p.Gln74Ter)SNV Pathogenic 535775 rs1297909281 4:41750408-41750408 4:41748391-41748391
6 PHOX2B NM_003924.4(PHOX2B):c.422G>A (p.Arg141Gln)SNV Pathogenic 869127 4:41749373-41749373 4:41747356-41747356
7 PHOX2B NM_003924.4(PHOX2B):c.446G>T (p.Arg149Leu)SNV Pathogenic 869128 4:41748323-41748323 4:41746306-41746306
8 PHOX2B NM_003924.4(PHOX2B):c.234C>G (p.Tyr78Ter)SNV Pathogenic 869129 4:41750394-41750394 4:41748377-41748377
9 PHOX2B NP_003915.2:p.Ala260(5_9)NT expansion Pathogenic 6008
10 PHOX2B NM_003924.3(PHOX2B):c.618dup (p.Ser207fs)duplication Pathogenic 6009 rs587776626 4:41748150-41748151 4:41746133-41746134
11 PHOX2B PHOX2B, 37-BP DEL, NT722deletion Pathogenic 6010
12 RET NM_020975.6(RET):c.1852T>G (p.Cys618Gly)SNV Pathogenic 13905 rs76262710 10:43609096-43609096 10:43113648-43113648
13 ASCL1 NM_004316.4(ASCL1):c.52C>A (p.Pro18Thr)SNV Pathogenic 18332 rs267606667 12:103352074-103352074 12:102958296-102958296
14 ASCL1 ASCL1, 15-BP DEL, NT111deletion Pathogenic 18333
15 ASCL1 ASCL1, 24-BP DEL, NT108deletion Pathogenic 18334
16 PMPCA NM_015160.3(PMPCA):c.1066G>A (p.Gly356Ser)SNV Pathogenic 221553 rs768643552 9:139313082-139313082 9:136418630-136418630
17 PMPCA NM_015160.3(PMPCA):c.1129G>A (p.Ala377Thr)SNV Pathogenic 221552 rs753611141 9:139313299-139313299 9:136418847-136418847
18 RET NM_020975.6(RET):c.1947G>A (p.Ser649=)SNV Pathogenic/Likely pathogenic 24929 rs377767412 10:43609995-43609995 10:43114547-43114547
19 RET NM_020975.6(RET):c.2410G>A (p.Val804Met)SNV Pathogenic/Likely pathogenic 37102 rs79658334 10:43614996-43614996 10:43119548-43119548
20 PHOX2B NM_003924.4(PHOX2B):c.618del (p.Ser207fs)deletion Likely pathogenic 658418 4:41748151-41748151 4:41746134-41746134
21 PHOX2B NM_003924.3(PHOX2B):c.639C>T (p.Gly213=)SNV Conflicting interpretations of pathogenicity 467734 rs17879258 4:41748130-41748130 4:41746113-41746113
22 RET NM_020975.6(RET):c.2945G>A (p.Arg982His)SNV Conflicting interpretations of pathogenicity 477359 rs368550200 10:43620336-43620336 10:43124888-43124888
23 PHOX2B NM_003924.3(PHOX2B):c.270C>T (p.Gly90=)SNV Conflicting interpretations of pathogenicity 486034 rs1420633452 4:41749525-41749525 4:41747508-41747508
24 PHOX2B NM_003924.3(PHOX2B):c.*18G>ASNV Conflicting interpretations of pathogenicity 348808 rs776498322 4:41747806-41747806 4:41745789-41745789
25 PHOX2B NM_003924.3(PHOX2B):c.*19C>ASNV Conflicting interpretations of pathogenicity 348807 rs770841700 4:41747805-41747805 4:41745788-41745788
26 PHOX2B NM_003924.3(PHOX2B):c.773C>A (p.Ala258Glu)SNV Conflicting interpretations of pathogenicity 348809 rs747626591 4:41747996-41747996 4:41745979-41745979
27 PHOX2B NM_003924.3(PHOX2B):c.*60G>ASNV Conflicting interpretations of pathogenicity 348803 rs558416040 4:41747764-41747764 4:41745747-41745747
28 PHOX2B NM_003924.3(PHOX2B):c.729A>G (p.Ala243=)SNV Conflicting interpretations of pathogenicity 348810 rs751829128 4:41748040-41748040 4:41746023-41746023
29 PHOX2B NM_003924.3(PHOX2B):c.-210C>ASNV Uncertain significance 348812 rs886059414 4:41750837-41750837 4:41748820-41748820
30 PHOX2B NM_003924.3(PHOX2B):c.-265G>ASNV Uncertain significance 348813 rs886059415 4:41750892-41750892 4:41748875-41748875
31 ACO2 NM_001098.3(ACO2):c.75C>T (p.Val25=)SNV Uncertain significance 374009 rs1057518833 22:41895768-41895768 22:41499764-41499764
32 ACO2 NM_001098.3(ACO2):c.76C>T (p.Leu26=)SNV Uncertain significance 374008 rs1057518832 22:41895769-41895769 22:41499765-41499765
33 ACO2 NM_001098.3(ACO2):c.1395G>C (p.Lys465Asn)SNV Uncertain significance 374007 rs746964497 22:41919858-41919858 22:41523854-41523854
34 ACO2 NM_001098.3(ACO2):c.1397A>C (p.Asn466Thr)SNV Uncertain significance 374006 rs1057518831 22:41919860-41919860 22:41523856-41523856
35 PHOX2B NM_003924.3(PHOX2B):c.*1701A>GSNV Uncertain significance 348779 rs886059409 4:41746123-41746123 4:41744106-41744106
36 PHOX2B NM_003924.3(PHOX2B):c.*1310G>TSNV Uncertain significance 348789 rs180795407 4:41746514-41746514 4:41744497-41744497
37 RET NM_020975.6(RET):c.3314C>T (p.Ala1105Val)SNV Uncertain significance 201136 rs532862288 10:43623686-43623686 10:43128238-43128238
38 PHOX2B NM_003924.3(PHOX2B):c.-195G>ASNV Uncertain significance 348811 rs775569375 4:41750822-41750822 4:41748805-41748805
39 PHOX2B NM_003924.3(PHOX2B):c.*1269A>GSNV Uncertain significance 348790 rs886059412 4:41746555-41746555 4:41744538-41744538
40 PHOX2B NM_003924.3(PHOX2B):c.*1644A>TSNV Uncertain significance 348781 rs886059410 4:41746180-41746180 4:41744163-41744163
41 PHOX2B NM_003924.3(PHOX2B):c.*1627G>ASNV Uncertain significance 348782 rs886059411 4:41746197-41746197 4:41744180-41744180
42 PHOX2B NM_003924.3(PHOX2B):c.*1401C>GSNV Uncertain significance 348784 rs781647693 4:41746423-41746423 4:41744406-41744406
43 PHOX2B NM_003924.3(PHOX2B):c.*638G>CSNV Uncertain significance 348796 rs544491872 4:41747186-41747186 4:41745169-41745169
44 PHOX2B NM_003924.3(PHOX2B):c.*58G>CSNV Uncertain significance 348804 rs886059413 4:41747766-41747766 4:41745749-41745749
45 PHOX2B NM_003924.3(PHOX2B):c.*30_*32dupGCGshort repeat Uncertain significance 348805 rs763380864 4:41747791-41747792 4:41745774-41745775
46 PHOX2B NM_003924.3(PHOX2B):c.*737C>TSNV Uncertain significance 348793 rs745503233 4:41747087-41747087 4:41745070-41745070
47 PHOX2B NM_003924.3(PHOX2B):c.*693C>TSNV Uncertain significance 348794 rs535962589 4:41747131-41747131 4:41745114-41745114
48 RET NM_020975.6(RET):c.938G>A (p.Arg313Gln)SNV Uncertain significance 13932 rs77702891 10:43601894-43601894 10:43106446-43106446
49 PHOX2B NM_003924.3(PHOX2B):c.299G>T (p.Arg100Leu)SNV Uncertain significance 6011 rs104893855 4:41749496-41749496 4:41747479-41747479
50 PHOX2B NM_003924.4(PHOX2B):c.*789G>ASNV Uncertain significance 903659 4:41747035-41747035 4:41745018-41745018

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

73
# 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:

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 12.16 TH SLC17A6 RET DBH
2 11.44 TLX2 PHOX2B ASCL1
3 11.38 TLX3 TH RET PHOX2B PHOX2A BDNF
4 11.15 TH GDNF BDNF ASCL1
5 10.81 TH RET ASCL1
6
Show member pathways
10.77 TH DBH
7
Show member pathways
10.71 TH DBH

GO Terms for Central Hypoventilation Syndrome, Congenital

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

# Name GO ID Score Top Affiliating Genes
1 nuclear chromatin GO:0000790 9.23 TLX3 TLX2 PHOX2B PHOX2A LBX1 DBX1

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

(show all 36)
# Name GO ID Score Top Affiliating Genes
1 regulation of transcription, DNA-templated GO:0006355 10.21 TLX3 TLX2 PHOX2B PHOX2A LBX1 DBX1
2 positive regulation of transcription by RNA polymerase II GO:0045944 10.16 TLX3 TLX2 PHOX2B PHOX2A GDNF ATOH1
3 negative regulation of apoptotic process GO:0043066 10.04 GDNF EDNRB BDNF ATOH1 ASCL1
4 multicellular organism development GO:0007275 10.02 TLX3 TLX2 RET PHOX2B LBX1 EDN3
5 regulation of gene expression GO:0010468 9.97 PHOX2B GDNF EDN3 ASCL1
6 axon guidance GO:0007411 9.93 RET GDNF BDNF ATOH1
7 neuron migration GO:0001764 9.83 TLX3 PHOX2B ATOH1 ASCL1
8 memory GO:0007613 9.81 TH DBH BDNF
9 cerebral cortex development GO:0021987 9.81 TH ATOH1 ASCL1
10 inner ear development GO:0048839 9.77 PHOX2B BDNF ATOH1
11 positive regulation of neuron differentiation GO:0045666 9.76 PHOX2B BDNF ATOH1 ASCL1
12 ureteric bud development GO:0001657 9.74 RET GDNF BDNF
13 neuron differentiation GO:0030182 9.73 TLX3 RET PHOX2B EDN3 ATOH1 ASCL1
14 negative regulation of neuron differentiation GO:0045665 9.71 TLX3 PHOX2B LBX1 ASCL1
15 peripheral nervous system development GO:0007422 9.69 GDNF EDNRB BDNF
16 melanocyte differentiation GO:0030318 9.67 EDNRB EDN3
17 glial cell differentiation GO:0010001 9.66 PHOX2B ASCL1
18 neuron fate specification GO:0048665 9.65 TLX3 ASCL1
19 vasoconstriction GO:0042310 9.65 EDNRB EDN3
20 regulation of respiratory gaseous exchange by neurological system process GO:0002087 9.64 TLX3 PHOX2B
21 sympathetic ganglion development GO:0061549 9.62 PHOX2B ASCL1
22 neural crest cell migration GO:0001755 9.62 RET GDNF EDNRB EDN3
23 hyaloid vascular plexus regression GO:1990384 9.61 TH SLC17A6
24 autonomic nervous system development GO:0048483 9.61 PHOX2B PHOX2A
25 response to pain GO:0048265 9.61 RET EDNRB DBH
26 nervous system development GO:0007399 9.61 RET PHOX2B PHOX2A LBX1 GDNF EDNRB
27 catecholamine biosynthetic process GO:0042423 9.59 TH DBH
28 norepinephrine biosynthetic process GO:0042421 9.58 TH DBH
29 noradrenergic neuron differentiation GO:0003357 9.58 PHOX2B PHOX2A
30 fear response GO:0042596 9.56 DBH BDNF
31 vein smooth muscle contraction GO:0014826 9.55 EDNRB EDN3
32 noradrenergic neuron development GO:0003358 9.54 PHOX2B ASCL1
33 parasympathetic nervous system development GO:0048486 9.49 PHOX2B PHOX2A
34 posterior midgut development GO:0007497 9.48 RET EDNRB
35 sympathetic nervous system development GO:0048485 9.46 PHOX2B PHOX2A GDNF ASCL1
36 enteric nervous system development GO:0048484 9.1 TLX2 RET PHOX2B PHOX2A GDNF EDNRB

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

# Name GO ID Score Top Affiliating Genes
1 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 9.65 TLX3 TLX2 PHOX2B ATOH1 ASCL1
2 DNA-binding transcription factor activity GO:0003700 9.63 TLX3 TLX2 PHOX2A LBX1 ATOH1 ASCL1
3 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.56 TLX3 TLX2 PHOX2B PHOX2A LBX1 DBX1
4 sequence-specific DNA binding GO:0043565 9.23 TLX3 TLX2 PHOX2B PHOX2A LBX1 DBX1

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 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....