Details of Disease

General Information of Disease (ID: DISQRK53)

• Disease Name: Central hypoventilation syndrome, congenital
• Disease Hierarchy:
  DISYKSRF: Genetic disease
  DISQRK53: Central hypoventilation syndrome, congenital
• Disease Identifiers:
  MONDO ID: MONDO_0800031
  MESH ID: C536209
  UMLS CUI: C1275808
  MedGen ID: 220902
  SNOMED CT ID: 399040002

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 4 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
BDNF	TTSMLOH	Limited	Biomarker	[1]
GDNF	TTF23ML	Limited	Biomarker	[2]
RET	TT4DXQT	Limited	Genetic Variation	[3]
DBH	TTYIP79	Strong	Biomarker	[4]

This Disease Is Related to 1 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
SLC2A10	DT3BI6S	Strong	Biomarker	[5]

This Disease Is Related to 8 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ASCL1	OTI4X44G	Limited	Genetic Variation	[6]
HPCAL1	OTOBBFRD	moderate	Genetic Variation	[7]
EDN3	OTN7Q9BE	Strong	Biomarker	[8]
KCNK5	OT68V64E	Strong	Genetic Variation	[9]
TLX1	OTVN0MNW	Strong	Biomarker	[10]
TLX2	OTPFAUM8	Strong	Genetic Variation	[11]
TLX3	OTBUHHK3	Strong	Biomarker	[12]
TRIM11	OTMD6IM2	Strong	Biomarker	[13]

References

• [1] Risk Factor Genes in Patients with Dystonia: A Comprehensive Review.Tremor Other Hyperkinet Mov (N Y). 2019 Jan 9;8:559. doi: 10.7916/D8H438GS. eCollection 2018.
• [2] Mutations of the RET-GDNF signaling pathway in Ondine's curse.Am J Hum Genet. 1998 Mar;62(3):715-7. doi: 10.1086/301759.
• [3] Common PHOX2B poly-alanine contractions impair RET gene transcription, predisposing to Hirschsprung disease.Biochim Biophys Acta Mol Basis Dis. 2017 Jul;1863(7):1770-1777. doi: 10.1016/j.bbadis.2017.04.017. Epub 2017 Apr 20.
• [4] In vitro drug treatments reduce the deleterious effects of aggregates containing polyAla expanded PHOX2B proteins.Neurobiol Dis. 2012 Jan;45(1):508-18. doi: 10.1016/j.nbd.2011.09.007. Epub 2011 Sep 21.
• [5] An official ATS clinical policy statement: Congenital central hypoventilation syndrome: genetic basis, diagnosis, and management.Am J Respir Crit Care Med. 2010 Mar 15;181(6):626-44. doi: 10.1164/rccm.200807-1069ST.
• [6] Noradrenergic neuronal development is impaired by mutation of the proneural HASH-1 gene in congenital central hypoventilation syndrome (Ondine's curse).Hum Mol Genet. 2003 Dec 1;12(23):3173-80. doi: 10.1093/hmg/ddg339. Epub 2003 Oct 7.
• [7] Mutations that disrupt PHOXB interaction with the neuronal calcium sensor HPCAL1 impede cellular differentiation in neuroblastoma.Oncogene. 2014 Jun 19;33(25):3316-24. doi: 10.1038/onc.2013.290. Epub 2013 Jul 22.
• [8] Endothelin-3 gene mutations in isolated and syndromic Hirschsprung disease.Eur J Hum Genet. 1997 Jul-Aug;5(4):247-51.
• [9] Task2 potassium channels set central respiratory CO2 and O2 sensitivity.Proc Natl Acad Sci U S A. 2010 Feb 2;107(5):2325-30. doi: 10.1073/pnas.0910059107. Epub 2010 Jan 19.
• [10] Mutational analysis of the RNX gene in congenital central hypoventilation syndrome.Am J Med Genet. 2002 Nov 22;113(2):178-82. doi: 10.1002/ajmg.10746.
• [11] The TLX2 homeobox gene is a transcriptional target of PHOX2B in neural-crest-derived cells.Biochem J. 2006 Apr 15;395(2):355-61. doi: 10.1042/BJ20051386.
• [12] Exclusion of RNX as a major gene in congenital central hypoventilation syndrome (CCHS, Ondine's curse).Am J Med Genet A. 2003 Feb 15;117A(1):18-20. doi: 10.1002/ajmg.a.10934.
• [13] The E3 ubiquitin ligase TRIM11 mediates the degradation of congenital central hypoventilation syndrome-associated polyalanine-expanded PHOX2B.J Mol Med (Berl). 2012 Sep;90(9):1025-35. doi: 10.1007/s00109-012-0868-1. Epub 2012 Feb 4.