Details of Disease

General Information of Disease (ID: DIS8ZGU7)

• Disease Name: Watson syndrome
• Synonyms: pulmonic stenosis with cafe-Au-lait Spots; WTSN; cafe-Au-lait Spots with pulmonic stenosis; Watson syndrome
• Definition: Watson syndrome is believed to be a variant of neurofibromatosis type 1. The symptoms of this condition are pulmonary valvular stenosis, cafe-au-lait spots and short stature. IQTest scores for individuals with Watson syndromecan rangebetween 60-100.Many people with this condition also have a larger than average head size (macrocephaly) and Lisch nodules. While mutations in the NF1 gene have been found in families with Watson syndrome, the exactcause of this condition is unknown. The conditionis inherited in an autosomal dominant pattern. Treatment aims at managing the specific symptoms of an individual.
• Disease Hierarchy:
  DISNOZ2M: Neurofibromatosis-Noonan syndrome
  DIS8ZGU7: Watson syndrome
• Disease Identifiers:
  MONDO ID: MONDO_0008672
  MESH ID: D009456
  UMLS CUI: C0553586
  OMIM ID: 193520
  MedGen ID: 107817
  Orphanet ID: 3444
  SNOMED CT ID: 403820003

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
MAP2K2	TT8H9GB	Strong	GermlineCausalMutation	[1]

This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
SPRED1	OTKX7P8G	Limited	Biomarker	[2]
NF1	OTC29NHH	Definitive	Autosomal dominant	[3]

References

• [1] Multiple caf au lait spots in familial patients with MAP2K2 mutation. Am J Med Genet A. 2014 Feb;164A(2):392-6. doi: 10.1002/ajmg.a.36288. Epub 2013 Dec 5.
• [2] Germline loss-of-function mutations in SPRED1 cause a neurofibromatosis 1-like phenotype. Nat Genet. 2007 Sep;39(9):1120-6. doi: 10.1038/ng2113. Epub 2007 Aug 19.
• [3] Analysis of mutations at the neurofibromatosis 1 (NF1) locus. Hum Mol Genet. 1992 Dec;1(9):735-40. doi: 10.1093/hmg/1.9.735.