CCHS
MCID: CNT097
MIFTS: 59

Central Hypoventilation Syndrome, Congenital (CCHS) malady

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

Aliases & Classifications for Central Hypoventilation Syndrome, Congenital

Aliases & Descriptions for Central Hypoventilation Syndrome, Congenital:

Name: Central Hypoventilation Syndrome, Congenital 54 66 52
Congenital Central Hypoventilation Syndrome 12 23 50 24 25 66 14
Cchs 12 50 24 25 56 66
Haddad Syndrome 54 25 56 29
Ondine Curse 12 24 56 66
Congenital Central Alveolar Hypoventilation Syndrome 12 56 69
Congenital Failure of Autonomic Control 50 25 66
Congenital Central Hypoventilation 25 29 69
Central Hypoventilation Syndrome 54 29 13
Ondine Syndrome 12 25 56
Central Congenital Hypoventilation Syndrome 12 56
Ondine-Hirschsprung Disease 25 56
Hypoventilation 42 69
Central Hypoventilation Syndrome, Congenital, with or Without Hirschsprung Disease 54
Congenital Central Alveolar Hypoventilation-Hirschsprung Disease Syndrome 56
Idiopathic Congenital Central Alveolar Hypoventilation 50
Central Alveolar Hypoventilation Syndrome 69
Sleep-Related Respiratory Failure 69
Primary Alveolar Hypoventilation 50
Cchs with Hirschsprung Disease 69
Ondine-Hirschsprung Syndrome 56
Congenital Ondine Curse 50
Sleep Apnea, Central 69

Characteristics:

Orphanet epidemiological data:

56
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;

GeneReviews:

23
central hypoventilation syndrome, congenital:
Mortality/Aging death in infancy
Inheritance autosomal dominant inheritance


GeneReviews:

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

Classifications:



External Ids:

OMIM 54 209880
Disease Ontology 12 DOID:0060731
ICD10 33 G47.3
ICD10 via Orphanet 34 G47.3
UMLS via Orphanet 70 C1275808 C1859587
MESH via Orphanet 43 C536209

Summaries for Central Hypoventilation Syndrome, Congenital

OMIM : 54 Idiopathic congenital central hypoventilation syndrome, also known as 'Ondine's curse' (Deonna et al., 1974), is a rare... (209880) more...

MalaCards based summary : Central Hypoventilation Syndrome, Congenital, also known as congenital central hypoventilation syndrome, is related to hirschsprung disease 1 and perry syndrome, and has symptoms including seizures, intellectual disability and muscular hypotonia. An important gene associated with Central Hypoventilation Syndrome, Congenital is PHOX2B (Paired Like Homeobox 2b), and among its related pathways/superpathways are Neural Crest Differentiation and Sudden Infant Death Syndrome (SIDS) Susceptibility Pathways. The drugs Riluzole and Morphine have been mentioned in the context of this disorder. Affiliated tissues include lung, heart and skin, and related phenotypes are shRNA abundance <= 50% and behavior/neurological

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

Genetics Home Reference : 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.

NIH Rare Diseases : 50 congenital central hypoventilation syndrome (cchs) is a disorder of the autonomic nervous system that affects breathing. it causes a person to hypoventilate (especially during sleep), resulting in a shortage of oxygen and a buildup of carbon dioxide in the blood. symptoms usually begin shortly after birth. affected infants hypoventilate upon falling asleep and exhibit a bluish appearance of the skin or lips (cyanosis). other features may include difficulty regulating heart rate and blood pressure; decreased perception of pain; low body temperature; sporadic profuse sweating; hirschsprung disease; constipation; learning difficulties; eye abnormalities; and a characteristic facial appearance (having a short, wide, somewhat flattened face). cchs is caused by a mutation in the phox2b gene and is inherited in an autosomal dominant manner. however, over 90% of cases are due to a new mutation in the affected person and are not inherited from a parent. treatment typically includes mechanical ventilation or use of a diaphragm pacemaker. last updated: 1/12/2016

UniProtKB/Swiss-Prot : 66 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 : 71 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 52)
id Related Disease Score Top Affiliating Genes
1 hirschsprung disease 1 31.6 EDNRB GDNF RET
2 perry syndrome 11.9
3 rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome 11.9
4 rohhad 10.9
5 epiphyseal dysplasia, multiple, 3 10.3 EDN3 EDNRB
6 waardenburg syndrome, type 4a 10.2 EDNRB RET
7 meigel disease 10.2 GDNF RET
8 ceroid lipofuscinosis, neuronal, 5 10.2 EDN3 EDNRB RET
9 hemopericardium 10.2 ASCL1 EDNRB PHOX2B
10 hypoparathyroidism-intellectual disability-dysmorphism syndrome 10.2 GDNF RET TH
11 cytomegalovirus disease in patients with impaired cell mediated immunity deemed at risk 10.2 BDNF TH
12 sweat gland cancer 10.1 EDNRB GDNF RET
13 wdha syndrome 10.1 EDN3 EDNRB
14 postmenopausal atrophic vaginitis 10.1 BDNF PHOX2B TH
15 ariboflavinosis 10.1 EDN3 EDNRB GDNF RET
16 neutropenia, severe congenital, 5, autosomal recessive 10.1 ASCL1 EDNRB GDNF RET
17 cystadenoma 10.1 BDNF PHOX2B TH
18 pheochromocytoma 10.1 ASCL1 GDNF RET TH
19 spinal meningioma 10.0 EDN3 EDNRB GDNF PHOX2B RET
20 shprintzen-goldberg syndrome 10.0 ASCL1 EDN3 EDNRB GDNF RET
21 atrial fibrillation, familial, 10 10.0 ASCL1 BDNF PHOX2A PHOX2B TH
22 sudden infant death syndrome 10.0
23 skin pilomatrix carcinoma 10.0 ASCL1 EDN3 EDNRB GDNF PHOX2B RET
24 myopathy of extraocular muscle 10.0 EDN3 EDNRB RET
25 tooth agenesis, selective, 5 10.0 ASCL1 EDN3 EDNRB GDNF PHOX2B RET
26 anterior spinal artery syndrome 9.9
27 cerebritis 9.9
28 neuroblastoma 9.9
29 sleep apnea 9.9
30 autonomic dysfunction 9.8
31 hypoglycemia 9.8
32 ganglioneuroblastoma 9.7
33 hypoxia 9.7
34 hyperglycemia 9.7
35 neurosarcoidosis 9.7
36 ganglioneuroma 9.7
37 hyperthyroidism 9.7
38 neuronitis 9.7
39 influenza 9.7
40 learning disability 9.7
41 pulmonary hypertension 9.7
42 narcolepsy 9.7
43 central sleep apnea 9.7
44 obstructive sleep apnea 9.7
45 meningitis 9.7
46 thrombosis 9.7
47 encephalitis 9.7
48 esophagitis 9.7
49 down syndrome 9.7
50 haemophilus influenzae 9.7

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



Diseases related to Central Hypoventilation Syndrome, Congenital

Symptoms & Phenotypes for Central Hypoventilation Syndrome, Congenital

Symptoms by clinical synopsis from OMIM:

209880

Clinical features from OMIM:

209880

Human phenotypes related to Central Hypoventilation Syndrome, Congenital:

56 32 (show all 34)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 seizures 56 32 Occasional (29-5%),Frequent (79-30%) HP:0001250
2 intellectual disability 56 32 Frequent (79-30%) HP:0001249
3 muscular hypotonia 56 32 Occasional (29-5%),Frequent (79-30%) HP:0001252
4 failure to thrive 56 32 Very frequent (99-80%) HP:0001508
5 respiratory insufficiency 56 32 Very frequent (99-80%) HP:0002093
6 dysautonomia 56 32 Very frequent (99-80%) HP:0002459
7 sensorineural hearing impairment 56 32 Occasional (29-5%) HP:0000407
8 gastroesophageal reflux 56 32 Frequent (79-30%) HP:0002020
9 cognitive impairment 56 32 Occasional (29-5%) HP:0100543
10 strabismus 56 32 Very frequent (99-80%) HP:0000486
11 aganglionic megacolon 56 32 Occasional (29-5%),Very frequent (99-80%) HP:0002251
12 polyhydramnios 56 32 Occasional (29-5%) HP:0001561
13 oligohydramnios 56 32 Occasional (29-5%) HP:0001562
14 decreased fetal movement 56 32 Occasional (29-5%) HP:0001558
15 neuroblastoma 56 32 Occasional (29-5%),Occasional (29-5%) HP:0003006
16 central hypoventilation 56 32 Very frequent (99-80%) HP:0007110
17 ganglioneuroma 56 32 Occasional (29-5%),Occasional (29-5%) HP:0003005
18 small for gestational age 56 32 Very frequent (99-80%) HP:0001518
19 ganglioneuroblastoma 56 32 Occasional (29-5%) HP:0006747
20 autonomic dysregulation 56 32 Very frequent (99-80%) HP:0002271
21 breathing dysregulation 56 32 Very frequent (99-80%) HP:0005957
22 central sleep apnea 56 32 Very frequent (99-80%) HP:0010536
23 constipation 32 HP:0002019
24 low-set ears 32 HP:0000369
25 hyperhidrosis 32 HP:0000975
26 abnormality of the cardiovascular system 32 HP:0001626
27 feeding difficulties 32 HP:0011968
28 death in infancy 56 Frequent (79-30%)
29 abnormality of temperature regulation 32 HP:0004370
30 abnormality of the mouth 32 HP:0000153
31 downslanted palpebral fissures 32 HP:0000494
32 neoplasm of the central nervous system 56 Occasional (29-5%)
33 abnormality of the autonomic nervous system 56 Very frequent (99-80%)
34 posteriorly rotated ears 32 HP:0000358

UMLS symptoms related to Central Hypoventilation Syndrome, Congenital:


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

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

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 shRNA abundance <= 50% GR00343-S 9.32 GPR4 KCNK5 PHOX2A PHOX2B PMPCA RET

MGI Mouse Phenotypes related to Central Hypoventilation Syndrome, Congenital:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.25 ASCL1 BDNF DBX1 EDN3 EDNRB GDNF
2 growth/size/body region MP:0005378 10.18 PHOX2A PHOX2B RET TH TLX2 ZNF202
3 mortality/aging MP:0010768 10.13 KCNK5 MARK3 PHOX2A PHOX2B RET TH
4 homeostasis/metabolism MP:0005376 10.06 RET TH TLX3 BDNF DBX1 EDNRB
5 nervous system MP:0003631 10 ASCL1 BDNF DBX1 EDN3 EDNRB GDNF
6 digestive/alimentary MP:0005381 9.95 BDNF EDN3 EDNRB GDNF RET TLX2
7 no phenotypic analysis MP:0003012 9.56 ASCL1 BDNF DBX1 KCNK5 MARK3 PHOX2A
8 respiratory system MP:0005388 9.36 GPR4 KCNK5 PHOX2A PHOX2B RET TH

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 108)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Riluzole Approved, Investigational Phase 4 1744-22-5 5070
2
Morphine Approved, Investigational Phase 4,Phase 3 57-27-2 5288826
3
Naloxone Approved, Vet_approved Phase 4 465-65-6 5284596
4
Acetazolamide Approved, Vet_approved Phase 4,Phase 3 59-66-5 1986
5
Propofol Approved, Investigational, Vet_approved Phase 4 2078-54-8 4943
6
Oxycodone Approved, Illicit, Investigational Phase 4 76-42-6 5284603
7
Bupivacaine Approved, Investigational Phase 4 2180-92-9, 38396-39-3 2474
8
Dexmedetomidine Approved, Vet_approved Phase 4 76631-46-4, 113775-47-6 68602 5311068 56032
9 Analgesics Phase 4,Phase 3
10 diuretics Phase 4,Phase 3
11 Adrenergic Agents Phase 4
12 Narcotic Antagonists Phase 4
13 Narcotics Phase 4,Phase 3
14 Natriuretic Agents Phase 4,Phase 3
15 Adrenergic Agonists Phase 4
16 Adrenergic alpha-Agonists Phase 4
17 Neurotransmitter Agents Phase 4,Phase 2,Phase 3
18 Analgesics, Opioid Phase 4,Phase 3
19 Anesthetics Phase 4,Phase 2
20 Anesthetics, General Phase 4
21 Anesthetics, Intravenous Phase 4
22 Peripheral Nervous System Agents Phase 4,Phase 2,Phase 3
23 Hypnotics and Sedatives Phase 4
24 Anticonvulsants Phase 4,Phase 3
25 Carbonic Anhydrase Inhibitors Phase 4,Phase 3
26 Central Nervous System Depressants Phase 4,Phase 3
27 Anesthetics, Local Phase 4
28 Anti-Bacterial Agents Phase 4
29 Antibiotics, Antitubercular Phase 4
30 Adrenergic alpha-2 Receptor Agonists Phase 4
31 Analgesics, Non-Narcotic Phase 4
32
Desogestrel Approved Phase 2, Phase 3 54024-22-5 40973
33
Nitric Oxide Approved Phase 2, Phase 3 10102-43-9 145068
34 Progestins Phase 2, Phase 3
35 Contraceptive Agents Phase 2, Phase 3
36 Contraceptives, Oral Phase 2, Phase 3
37 Hormone Antagonists Phase 2, Phase 3
38 Hormones Phase 2, Phase 3
39 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 2, Phase 3
40 Protective Agents Phase 2, Phase 3
41 Antioxidants Phase 2, Phase 3
42 Vasodilator Agents Phase 2, Phase 3
43 Endothelium-Dependent Relaxing Factors Phase 2, Phase 3
44 Anti-Asthmatic Agents Phase 2, Phase 3
45 Respiratory System Agents Phase 2, Phase 3
46 Autonomic Agents Phase 2, Phase 3
47 Bronchodilator Agents Phase 2, Phase 3
48
Dexamethasone Approved, Investigational, Vet_approved Phase 2 50-02-2 5743
49 Dexamethasone acetate Phase 2 1177-87-3
50 glucocorticoids Phase 2

Interventional clinical trials:

(show top 50) (show all 142)
id Name Status NCT ID Phase
1 Comparison of Pressure Support and Pressure Control Ventilation in Chronic Respiratory Failure Unknown status NCT00994552 Phase 4
2 Non-Invasive Ventilation in Amyotrophic Lateral Sclerosis Unknown status NCT00560287 Phase 4
3 Treatment of High Altitude Polycythemia by Acetazolamide Completed NCT00424970 Phase 4
4 Patients-ventilator Interaction During Sleep: Effect of Humidification System Completed NCT01038791 Phase 4
5 Oral Oxycodone After Major Cardiac Surgery Completed NCT01816581 Phase 4
6 Phase 4, Controlled Study in Adult Subjects Undergoing Primary, 1-2 Level, Open Lumbar Spinal Fusion Surgery Recruiting NCT03015961 Phase 4
7 Stacking Exercises Aid the Decline in FVC and Sick Time Active, not recruiting NCT01999075 Phase 4
8 Propofol and Dexmedetomidine Versus a Propofol Only Regimen for Sedation During Colonoscopy Not yet recruiting NCT03139279 Phase 4
9 Target Volume Mode Controlled Ventilator in Obesity Hypoventilation Syndrome Suspended NCT01104610 Phase 4
10 Treatment of Metabolic Alkalosis in Acute Exacerbations of Cystic Fibrosis Unknown status NCT00163852 Phase 2, Phase 3
11 Assessment of Desogestrel in Ondine Syndrome Completed NCT01243697 Phase 2, Phase 3
12 Using Capnography to Reduce Hypoxia During Pediatric Sedation Completed NCT01463527 Phase 3
13 Treatment of Metabolic Alkalosis With Acetazolamide. Effect on the Length of Mechanical Ventilation. Completed NCT01499485 Phase 3
14 Validation of the AVAPS AE Algorithm in Chronic Obstructive Pulmonary Disease (COPD) Patients Completed NCT01601977 Phase 2, Phase 3
15 Effect of Inhaled Nitric Oxide in Acute Chest Syndrome (INOSTA Study) Completed NCT00748423 Phase 2, Phase 3
16 Study of Oliceridine (TRV130) for the Treatment of Moderate to Severe Acute Pain After Abdominoplasty Completed NCT02820324 Phase 3
17 Study of Oliceridine (TRV130) for the Treatment of Moderate to Severe Acute Pain After Bunionectomy Completed NCT02815709 Phase 3
18 Cost Effectiveness of Outpatient Set-up of Automated NIV in Obese Patients With Chronic Respiratory Failure Recruiting NCT02342899 Phase 3
19 Patient -Ventilator Interaction in Chronic Respiratory Failure Completed NCT01371149 Phase 2
20 Effectiveness of Continuous Negative External Pressure in Preventing Upper Airway Impairment During Routine Colonoscopy Completed NCT01895062 Phase 1, Phase 2
21 Trial of Operative Fixation of Fractured Ribs in Patients With Flail Chest Completed NCT00298259 Phase 2
22 Alternative of Treatment in Obesity Hypoventilation Syndrome Recruiting NCT01405976 Phase 2
23 Study to Justify Steroid Use in Preterm Neonates to Prevent Bronchopulmonary Dysplasia Recruiting NCT03035214 Phase 2
24 Diaphragm Pacing System (DPS) In Participants With Amyotrophic Lateral Sclerosis (ALS) Active, not recruiting NCT01938495 Phase 2
25 Effect of Air-stacking on Peak Cough Flow in Patients With Acute Cervical or High Thoracic Spinal Cord Injury Withdrawn NCT01046175 Phase 2
26 Telemedicine and Ventilator Titration in Chronic Respiratory Patients Initiating Non-invasive Ventilation Unknown status NCT01560741 Phase 1
27 AutoVPAP Versus VPAP; Assessment of Sleep and Ventilation Completed NCT00252252 Phase 1
28 EIT Study With Healthy Patients Completed NCT02828007 Phase 1
29 PHOX2B Mutation-Confirmed Congenital Central Hypoventilation Syndrome in A Chinese Family: Presentations From Newborn to Adulthood Unknown status NCT00652964
30 Therapeutic Effect of Desogestrel on Ventilatory Control in Patients With Congenital Central Hypoventilation Syndrome Unknown status NCT01500473
31 Predictive Factors of Obesity-hypoventilation Syndrome (OHS) Among Obese Subjects- ETUDE COHYPOB - Unknown status NCT02021448
32 Obesity Hypoventilation Syndrome Prevalence Study Unknown status NCT01964339
33 Use of Polysomnography for Non-Invasive Ventilation Settings' Optimization Unknown status NCT00603096
34 Factors Associated With Chronic Respiratory Failure in Obesity Unknown status NCT01380418
35 Spirometric Detection of Esophageal Intubation Unknown status NCT02052869
36 Systematic Follow-up of Patients Surviving an Episode of Acute Hypercapnic Respiratory Failure in the ICU Unknown status NCT02111876
37 Opiate Sleep Disordered Breathing Study Unknown status NCT00791674
38 Cardiovascular Consequences of NIV Withdrawal in Patients With Myotonic Dystrophy Unknown status NCT00745238
39 Breathing Training for Asthma Unknown status NCT00975273
40 Changes in Spontaneous Ventilation in Response to Changes in Extracorporeal Carbon Dioxide Removal Unknown status NCT01953484
41 Autotitrating Versus Standard Non-invasive Ventilation (NIV) in Acute Exacerbation of Respiratory Failure Unknown status NCT01174316
42 Chronic Mountain Sickness, Systemic Vascular Function Unknown status NCT01182792
43 A Study to Investigate the Effects of Heated Humidification During Non-Invasive Ventilation Unknown status NCT01372072
44 Adaptive Servo Ventilation (ASV) in Heart Failure Unknown status NCT02440971
45 Late-onset Congenital Central Hypoventilation Syndrome and the Mutation of Phox2B Gene Completed NCT01225679
46 Ketamine Infusion and Hypoventilation Completed NCT01535976
47 Prevalence of Obesity Hypoventilation Syndrome Completed NCT01903135
48 Capnography Monitoring in the Bronchoscopic Sedation Completed NCT02848118
49 A Comparison of the Detection of Hypoventilation During Deep Sedation Utilizing Nasal End Title CO@ Versus Transcutaneous CO2 Measurement Techniques Completed NCT00954733
50 The Obesity-hypoventilation Syndrome Study of Clinical Characteristics and Predictive Factors of Response to Treatment Completed NCT00938977

Search NIH Clinical Center for Central Hypoventilation Syndrome, Congenital

Inferred drug relations via UMLS 69 / NDF-RT 48 :


Cochrane evidence based reviews: hypoventilation

Genetic Tests for Central Hypoventilation Syndrome, Congenital

Genetic tests related to Central Hypoventilation Syndrome, Congenital:

id Genetic test Affiliating Genes
1 Congenital Central Hypoventilation 29
2 Haddad Syndrome 29
3 Central Hypoventilation 29
4 Congenital Central Hypoventilation Syndrome 24 PHOX2B BDNF ASCL1 EDN3 GDNF

Anatomical Context for Central Hypoventilation Syndrome, Congenital

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

39
Lung, Heart, Skin, Eye, Brain

Publications for Central Hypoventilation Syndrome, Congenital

Variations for Central Hypoventilation Syndrome, Congenital

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

66
id Symbol AA change Variation ID SNP ID
1 BDNF p.Thr2Ile VAR_018260 rs8192466
2 PHOX2B p.Arg141Gln VAR_046900
3 PHOX2B p.Gln143Arg VAR_046901
4 RET p.Arg67His VAR_018153 rs192489011
5 RET p.Arg114His VAR_018154 rs76397662
6 RET p.Ala432Glu VAR_018155 rs552057730
7 RET p.Pro1039Leu VAR_018157 rs79853121

ClinVar genetic disease variations for Central Hypoventilation Syndrome, Congenital:

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

Expression for Central Hypoventilation Syndrome, Congenital

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

Pathways for Central Hypoventilation Syndrome, Congenital

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

id Super pathways Score Top Affiliating Genes
1 11.44 ASCL1 PHOX2B TLX2
2 11.38 ASCL1 BDNF PHOX2A PHOX2B RET TH
3 11.16 ASCL1 BDNF GDNF TH
4 10.81 ASCL1 RET TH

GO Terms for Central Hypoventilation Syndrome, Congenital

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

(show all 23)
id Name GO ID Score Top Affiliating Genes
1 nervous system development GO:0007399 9.93 ASCL1 BDNF EDNRB GDNF RET
2 regulation of gene expression GO:0010468 9.8 ASCL1 EDN3 GDNF PHOX2B
3 neuron migration GO:0001764 9.73 ASCL1 PHOX2B TLX3
4 negative regulation of neuron differentiation GO:0045665 9.65 ASCL1 PHOX2B TLX3
5 neuron differentiation GO:0030182 9.65 ASCL1 EDN3 PHOX2B RET TLX3
6 dopaminergic neuron differentiation GO:0071542 9.61 PHOX2A PHOX2B
7 peripheral nervous system development GO:0007422 9.6 EDNRB GDNF
8 response to pain GO:0048265 9.59 EDNRB RET
9 melanocyte differentiation GO:0030318 9.58 EDN3 EDNRB
10 vasoconstriction GO:0042310 9.58 EDN3 EDNRB
11 glial cell differentiation GO:0010001 9.57 ASCL1 PHOX2B
12 neuron fate specification GO:0048665 9.55 ASCL1 TLX3
13 regulation of respiratory gaseous exchange by neurological system process GO:0002087 9.52 PHOX2B TLX3
14 sympathetic ganglion development GO:0061549 9.51 ASCL1 PHOX2B
15 noradrenergic neuron differentiation GO:0003357 9.46 PHOX2A PHOX2B
16 neural crest cell migration GO:0001755 9.46 EDN3 EDNRB GDNF RET
17 vein smooth muscle contraction GO:0014826 9.43 EDN3 EDNRB
18 noradrenergic neuron development GO:0003358 9.4 ASCL1 PHOX2B
19 posterior midgut development GO:0007497 9.37 EDNRB RET
20 parasympathetic nervous system development GO:0048486 9.32 PHOX2A PHOX2B
21 sympathetic nervous system development GO:0048485 9.26 ASCL1 GDNF PHOX2A PHOX2B
22 enteric nervous system development GO:0048484 9.02 EDNRB GDNF PHOX2B RET TLX2
23 multicellular organism development GO:0007275 10.09 ASCL1 DBX1 EDN3 PHOX2B TLX2 TLX3

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

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

Sources for Central Hypoventilation Syndrome, Congenital

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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