KEGG DISEASE: Watson syndrome

KEGG

DISEASE: Watson syndrome

Entry

H02188                      Disease

Name

Watson syndrome;
Pulmonary valvular stenosis with cafe au lait spots

Supergrp

Neurofibromatosis type 1 [DS:H01437]

Description

Watson syndrome (WTSN) is an autosomal dominant condition characterized by the presence of pulmonary valvular stenosis, cafe au lait spots, and mild mental retardation. These features are also sometimes observed in neurofibromatosis type 1 (NF1). It has been suggested that Watson syndrome is caused by mutations in NF1 gene.

Category

Congenital malformation

Brite

Human diseases in ICD-11 classification [BR:br08403]
14 Diseases of the skin
  Genetic and developmental disorders affecting the skin
   EC23  Genetic disorders of skin pigmentation
    H02188  Watson syndrome
Pathway-based classification of diseases [BR:br08402]
Signal transduction
  nt06526  MAPK signaling
   H02188  Watson syndrome

Pathway

MAPK signaling pathway

Network

nt06526 MAPK signaling

Gene

NF1 [HSA:4763] [KO:K08052]

Other DBs

ICD-11:

ICD-10:

MeSH:

OMIM:

Reference

Authors

Allanson JE, Upadhyaya M, Watson GH, Partington M, MacKenzie A, Lahey D, MacLeod H, Sarfarazi M, Broadhead W, Harper PS, et al.

Title

Watson syndrome: is it a subtype of type 1 neurofibromatosis?

Journal

J Med Genet 28:752-6 (1991)
DOI:10.1136/jmg.28.11.752

Reference

Authors

Tassabehji M, Strachan T, Sharland M, Colley A, Donnai D, Harris R, Thakker N

Title

Tandem duplication within a neurofibromatosis type 1 (NF1) gene exon in a family with features of Watson syndrome and Noonan syndrome.

Journal

Am J Hum Genet 53:90-5 (1993)

LinkDB

» Japanese version

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