{"Name":"Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease","DiseaseID__c":"GARD:0008535","id":8535,"encodedName":"central-hypoventilation-syndrome-congenital-1-with-or-without-hirschsprung-disease","IsDeleted":false,"Disease_Name_Full__c":"Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease","Xref_IDs__c":"230499002; C5562075; C98889; DOID:0060731; MEDGEN:1794285; MONDO:0800026; OMIM:209880; ORPHA:661","USA_Estimate__c":"5,000","No_of_Specialist_Tagsa__c":4,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":1,"World_Estimate__c":"8,000 to 80,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":1,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0800026","Disease_Description__c":"Congenital central hypoventilation syndrome (CCHS) is a rare disease due to a severely impaired central autonomic control of breathing and dysfunction of the autonomous nervous system.","GARD_Name__c":"Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease","GARD_Synonym__c":"autonomic control, congenital failure of; cchs; cchs1; central congenital hypoventilation syndrome; central hypoventilation syndrome, congenital, 1; central hypoventilation syndrome, congenital, 1, with or without hirschsprung; congenital central alveolar hypoventilation syndrome; congenital central hypoventilation; congenital central hypoventilation syndrome; congenital ondine curse; ondine curse; ondine curse, congenital; ondine syndrome","Curated_Disease_Description_Source__c":"GARD:0008535","Curated_Disease_Description__c":"Congenital central hypoventilation syndrome (CCHS) is a disorder of the autonomic nervous system that affects breathing. It has 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. Infants with CCHS may hypoventilate upon falling asleep and exhibit a bluish appearance of the skin or lips (cyanosis). Other symptoms 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 may be associated with tumors of neural crest origin, such as neuroblastoma, ganglioneuroblastoma, and ganglioneuroma. CCHS is caused by a variation in the PHOX2B gene and is inherited in an autosomal dominant manner. However, over 90% of cases are due to a new genetic change 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.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"5,000","Age_at_Onset_Snippet_Text__c":"as a Newborn and as an Infant","SourceID__c":"ORPHA:661","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0800026","ORPHANET_ID__c":"ORPHA:661","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de hipoventilación central congénita","Spanish_Description_Source__c":"ORPHA:661","Spanish_Description__c":"El síndrome de hipoventilación central congénita (CCHS, por sus siglas en inglés) es una enfermedad poco frecuente debida a una afectación grave del control autonómico central de la respiración y a una disfunción del sistema nervioso autónomo.","Spanish_Disease_Name__c":"síndrome de hipoventilación central congénita","Spanish_GARD_Synonym__c":"cchs; maldición de ondine; síndrome de hipoventilación alveolar central congénita; síndrome de ondine","Category_Linearization__c":"ORPHA:98006","icd10_id__c":null,"mesh_id__c":null,"omim_id__c":null,"snomed_id__c":null,"umls_id__c":null,"GARD_Disease__c":[{"Curated_Disease_Description__c":"Congenital central hypoventilation syndrome (CCHS) is a disorder of the autonomic nervous system that affects breathing. It has 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. Infants with CCHS may hypoventilate upon falling asleep and exhibit a bluish appearance of the skin or lips (cyanosis). Other symptoms 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 may be associated with tumors of neural crest origin, such as neuroblastoma, ganglioneuroblastoma, and ganglioneuroma. CCHS is caused by a variation in the PHOX2B gene and is inherited in an autosomal dominant manner. However, over 90% of cases are due to a new genetic change 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.","Curated_Disease_Description_Source__c":"GARD:0008535","GARD_Synonym__c":"autonomic control, congenital failure of; cchs; cchs1; central congenital hypoventilation syndrome; central hypoventilation syndrome, congenital, 1; central hypoventilation syndrome, congenital, 1, with or without hirschsprung; congenital central alveolar hypoventilation syndrome; congenital central hypoventilation; congenital central hypoventilation syndrome; congenital ondine curse; ondine curse; ondine curse, congenital; ondine syndrome","Name":"Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung di","Curated_USA_Estimate__c":"5,000","estimateUsa":"5,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Alianza Iberoamericana de Enfermedades Raras o Poco Frecuentes","Website__c":"https://aliber.org/web/"},{"Account_Name__c":"Federación Mexicana de Enfermedades Raras (FEMEXER)","Website__c":"http://www.femexer.org/"},{"Account_Name__c":"Federación Española de Enfermedades Raras","Website__c":"https://enfermedades-raras.org/"},{"Account_Name__c":"Federación Colombiana de Enfermedades Raras","Website__c":"http://www.fecoer.org"},{"Account_Name__c":"Federación Argentina de Enfermedades Poco Frecuentes","Website__c":"https://fadepof.org.ar/"},{"Account_Name__c":"Asociación Todos Unidos Enfermedades Raras Uruguay","Website__c":"https://atueru.org.uy/"},{"Account_Name__c":"International Foundation for Functional Gastrointestinal Disorders","Website__c":"https://iffgd.org/"},{"Account_Name__c":"American Sleep Association","Website__c":"http://www.sleepassociation.org/"},{"Account_Name__c":"CCHS Network","Website__c":"https://www.cchsnetwork.org/"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Genetics","Tag_Category__c":"Cause;Disease Category;Specialist","category_description":"Genetic diseases affect the DNA, or genetic instructions, which directs how tissues, organs, and body systems function.","curated_tag_name":"Genetic diseases"},{"Tag_Name__c":"Pulmonology","Tag_Category__c":"Disease Category;Specialist","category_description":"Respiratory diseases affect the nose, mouth, throat, voice box, windpipe, lungs, or blood vessels.","curated_tag_name":"Respiratory diseases"},{"Tag_Name__c":"Neurology","Tag_Category__c":"Disease Category;Specialist","category_description":"Neurological diseases affect the brain, spinal cord, cranial nerves, autonomic nerves, or other peripheral nerves.","curated_tag_name":"Neurological diseases"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:661"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:661"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C1275808"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0008535","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK1427","Source__c":"Gene Review","Xref__c":"NBK1427"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1794285","Source__c":"C5562075","Xref__c":"MEDGEN:1794285"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C98889","Source__c":"MONDO:0800026","Xref__c":"C98889"},{"URL__c":"https://www.orpha.net/en/disease/detail/661","Source__c":"C5562075; MONDO:0800026","Xref__c":"ORPHA:661"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C5562075","Source__c":"C5562075","Xref__c":"C5562075"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0060731","Source__c":"MONDO:0800026","Xref__c":"DOID:0060731"},{"URL__c":"https://www.omim.org/entry/209880","Source__c":"C5562075; MONDO:0800026; ORPHA:661","Xref__c":"OMIM:209880"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=230499002","Source__c":"MONDO:0800026","Xref__c":"230499002"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0800026","Source__c":"GARD:0008535","Xref__c":"MONDO:0800026"},{"URL__c":"https://medlineplus.gov/genetics/condition/congenital-central-hypoventilation-syndrome"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"PHOX2B","GHR_URL__c":"https://medlineplus.gov/genetics/gene/phox2b","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:661","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Abnormal cognition is characterized by deficits in thinking, reasoning, or remembering.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100543","HPO_Synonym__c":"Abnormality of cognition; Cognitive abnormality; Cognitive defects; Cognitive deficits; Cognitive impairment; Intellectual impairment","HPO_Name__c":"Cognitive impairment","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:661","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormality resulting from a lack of intestinal ganglion cells (i.e., an aganglionic section of bowel) that results in bowel obstruction with enlargement of the colon.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002251","HPO_Synonym__c":"Enlarged colon lacking nerve cells; Hirschsprung megacolon","HPO_Name__c":"Aganglionic megacolon","Feature_System__c":"Nervous System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:661","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001250","HPO_Synonym__c":"Epileptic seizure; Seizures","HPO_Name__c":"Seizure","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:661","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006747","HPO_Name__c":"Ganglioneuroblastoma","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:661","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001252","HPO_Synonym__c":"Low muscle tone; Low or weak muscle tone; Muscle hypotonia; Muscular hypotonia","HPO_Name__c":"Hypotonia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:661","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A benign neoplasm that usually arises from the sympathetic trunk in the mediastinum, representing a tumor of the sympathetic nerve fibers arising from neural crest cells.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003005","HPO_Name__c":"Ganglioneuroma","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:661","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality of the autonomic nervous system.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002270","HPO_Name__c":"Abnormality of the autonomic nervous system","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:661","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002093","HPO_Synonym__c":"Respiratory impairment","HPO_Name__c":"Respiratory insufficiency","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:661","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A neoplasm of the central nervous system.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100006","HPO_Synonym__c":"Neoplasm of the CNS; Tumors of the central nervous system","HPO_Name__c":"Neoplasm of the central nervous system","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:661","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Neuroblastoma is a solid tumor that originate in neural crest cells of the sympathetic nervous system. Most neuroblastomas originate in the abdomen, and most abdominal neuroblastomas originate in the adrenal gland. Neuroblastomas can also originate in the thorax, usually in the posterior mediastinum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003006","HPO_Synonym__c":"Cancer of early nerve cells","HPO_Name__c":"Neuroblastoma","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Pulmonology","Neurology"],"Specialist":["Genetics","Pulmonology","Neurology","Pediatrics"]},"synonyms":["autonomic control, congenital failure of"," cchs"," cchs1"," central congenital hypoventilation syndrome"," central hypoventilation syndrome, congenital, 1"," central hypoventilation syndrome, congenital, 1, with or without hirschsprung"," congenital central alveolar hypoventilation syndrome"," congenital central hypoventilation"," congenital central hypoventilation syndrome"," congenital ondine curse"," ondine curse"," ondine curse, congenital"," ondine syndrome"],"spanishId":13493,"spanishName":"sindrome-de-hipoventilacion-congenita-central"}