Central Hypoventilation Syndrome, Congenital malady
Categories: Genetic diseases, Rare diseases, Neuronal diseases, Gastrointestinal diseases
11Disease Ontology, 12diseasecard, 23GeneReviews, 24GeneTests, 25Genetics Home Reference, 26GTR, 29ICD10, 30ICD10 via Orphanet, 36MedGen, 38MeSH, 39MESH via Orphanet, 47NIH Rare Diseases, 49Novoseek, 51OMIM, 53Orphanet, 63The Human Phenotype Ontology, 67UMLS, 68UMLS via Orphanet, 69UniProtKB/Swiss-Prot
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Aliases & Descriptions for Central Hypoventilation Syndrome, Congenital:
Orphanet epidemiological data:53
Inheritance: Autosomal dominant,Multigenic/multifactorial; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal
Inheritance: Autosomal dominant,Not applicable; Age of onset: Infancy,Neonatal; Age of death: normal life expectancy
central hypoventilation syndrome, congenital:
Inheritance: autosomal dominant inheritance
Penetrance: penetrance for the phox2b polyalanine repeat expansion mutation appears to be high. amiel et al , sasaki et al , weese-mayer et al , matera et al , and berry-kravis et al  found no controls with a phox2b polyalanine repeat expansion mutation...
Global: Genetic diseases, Rare diseases
Anatomical: Neuronal diseases, Gastrointestinal diseases
ICD10: 30 29
OMIM:51 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 esophagitis and neuroblastoma, and has symptoms including strabismus, respiratory insufficiency and apnea. An important gene associated with Central Hypoventilation Syndrome, Congenital is PHOX2B (Paired Like Homeobox 2b), and among its related pathways are Signaling events regulated by Ret tyrosine kinase and G-protein signaling_H-RAS regulation pathway. The drugs medroxyprogesterone acetate and medroxyprogesterone have been mentioned in the context of this disorder. Affiliated tissues include lung, heart and brain, and related mouse phenotypes are digestive/alimentary and integument.
Disease Ontology:11 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:47 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:69 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:70 Central hypoventilation syndrome (CHS) is a respiratory disorder that results in respiratory arrest... more...
GeneReviews for NBK1427
Human phenotypes related to Central Hypoventilation Syndrome, Congenital:63 53 (show all 37)
UMLS symptoms related to Central Hypoventilation Syndrome, Congenital:cheyne-stokes respiration, dyspnea, sleep disturbances, orthopnea, dyspnea on exertion, trepopnea, respiratory distress, other and unspecified abnormalities of breathing, platypnea, respiratory dyskinesia, breathing abnormally deep, actual resting dyspnea, transfusion-associated dyspnoea, constipation, increased sweating, coughing, hemoptysis, hoarseness, signs and symptoms, respiratory, shallow breathing, paradoxical respiration, acute hypoventilation, chronic hypoventilation, hyperoxia, breathing problem other, ventilation difficult
Drugs for Central Hypoventilation Syndrome, Congenital (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):(show top 50) (show all 95)
Interventional clinical trials:(show top 50) (show all 130)
Search NIH Clinical Center for Central Hypoventilation Syndrome, Congenital
Inferred drug relations via UMLS67/NDF-RT45:
MalaCards organs/tissues related to Central Hypoventilation Syndrome, Congenital:35
Lung, Heart, Brain, Eye, Skin, Spinal cord, Testes
MGI Mouse Phenotypes related to Central Hypoventilation Syndrome, Congenital:40
UniProtKB/Swiss-Prot genetic disease variations for Central Hypoventilation Syndrome, Congenital:69
Clinvar genetic disease variations for Central Hypoventilation Syndrome, Congenital:5 (show all 11)
Search GEO for disease gene expression data for Central Hypoventilation Syndrome, Congenital.
Pathways related to Central Hypoventilation Syndrome, Congenital according to GeneCards Suite gene sharing:
Biological processes related to Central Hypoventilation Syndrome, Congenital according to GeneCards Suite gene sharing:(show all 19)
30ICD10 via Orphanet
39MESH via Orphanet
52OMIM via Orphanet
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
68UMLS via Orphanet