Details of Disease | DrugMAP

General Information of Disease (ID: DISF128S)

Disease Name	Haddad syndrome
Synonyms	ondine-Hirschsprung disease; Haddad syndrome; congenital central alveolar hypoventilation-Hirschsprung disease syndrome; ondine-Hirschsprung syndrome
Definition	Haddad syndrome is a rare congenital disorder in which congenital central hypoventilation syndrome (CCHS), or Ondine syndrome, occurs concurrently with Hirschsprung disease.
Disease Hierarchy	DISBI73X: Intestinal motility disease DISF128S: Haddad syndrome
Disease Identifiers	MONDO ID MONDO_0020493 UMLS CUI C1859049 MedGen ID 347052 Orphanet ID 99803 SNOMED CT ID 719972004

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 4 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
RET	TTY0WT7	Supportive	Autosomal dominant	[1]
CYP11B1	TTIQUX7	Strong	Biomarker	[2]
GDNF	TTF23ML	Strong	Biomarker	[3]
RET	TT4DXQT	Strong	Biomarker	[4]
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This Disease Is Related to 4 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ASCL1	OTI4X44G	Supportive	Autosomal dominant	[5]
RET	OTLU040A	Supportive	Autosomal dominant	[1]
EDN3	OTN7Q9BE	Strong	Biomarker	[6]
PHOX2B	OT3SFR2O	Definitive	Autosomal dominant	[7]
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References

1	Point mutation in exon 12 of the receptor tyrosine kinase proto-oncogene RET in Ondine-Hirschsprung syndrome. Pediatrics. 1998 May;101(5):924-6. doi: 10.1542/peds.101.5.924.
2	A nonsense mutation (TGG [Trp116]-->TAG [Stop]) in CYP11B1 causes steroid 11 beta-hydroxylase deficiency.J Clin Endocrinol Metab. 1993 Dec;77(6):1677-82. doi: 10.1210/jcem.77.6.7903314.
3	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.
4	Congenital central hypoventilation syndrome: a novel mutation of the RET gene in an isolated case.Tohoku J Exp Med. 2002 Apr;196(4):241-6. doi: 10.1620/tjem.196.241.
5	Clinical Practice Guidelines for Rare Diseases: The Orphanet Database. PLoS One. 2017 Jan 18;12(1):e0170365. doi: 10.1371/journal.pone.0170365. eCollection 2017.
6	Endothelin-3 frameshift mutation in congenital central hypoventilation syndrome.Nat Genet. 1996 Aug;13(4):395-6. doi: 10.1038/ng0896-395.
7	Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.