congenital central hypoventilation syndrome

Summary
Synonym
  • CCHS
  • Ondine curse
  • Ondine syndrome
  • central congenital hypoventilation syndrome
  • congenital central alveolar hypoventilation syndrome
Definition
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.
Super Class
autonomic nervous system disease autosomal dominant disease physical disorder
External Links
Disease Ontology
DOID:0060731
Mondo Disease Ontology
MeSH
ORDO
OMIM
GARD
MGI genotype (from TogoID)
Related Genes
Displaying entries 1 - 10 of 14 in total
Gene ID Gene Symbol Description Source
1544 CYP1A2 cytochrome P450 family 1 subfamily A member 2
1573 CYP2J2 cytochrome P450 family 2 subfamily J member 2
1584 CYP11B1 cytochrome P450 family 11 subfamily B member 1
1585 CYP11B2 cytochrome P450 family 11 subfamily B member 2
1636 ACE angiotensin I converting enzyme
3423 IDS iduronate 2-sulfatase
3958 LGALS3 galectin 3
5728 PTEN phosphatase and tensin homolog
5743 PTGS2 prostaglandin-endoperoxide synthase 2
10020 GNE glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024