Congenital Central Hypoventilation Syndrome (CCHS)

Congenital Central Hypoventilation Syndrome(来自ICD-11)

别称:

Ondine Syndrome

Haddad Syndrome

Cchs

Congenital Central Alveolar Hypoventilation Syndrome

Congenital Central Hypoventilation

Ondine Curse

Ondine-Hirschsprung Disease

Congenital Central Alveolar Hypoventilation-Hirschsprung Disease Syndrome

Central Congenital Hypoventilation Syndrome

Congenital Failure of Autonomic Control

Ondine-Hirschsprung Syndrome

Ondine's Curse

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Congenital Central Hypoventilation Syndrome, also known as ondine syndrome, is related to central hypoventilation syndrome, congenital, 1 and hirschsprung disease 1, and has symptoms including constipation and increased sweating. An important gene associated with Congenital Central Hypoventilation Syndrome is PHOX2B (Paired Like Homeobox 2B), and among its related pathways/superpathways are Signal Transduction and GDNF-Family Ligands and Receptor Interactions. The drugs Desogestrel and Contraceptive Agents have been mentioned in the context of this disorder. Affiliated tissues include eye and colon, and related phenotypes are failure to thrive and respiratory insufficiency

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