KEGG DISEASE: Neurofibromatosis-Noonan syndrome

KEGG

DISEASE: Neurofibromatosis-Noonan syndrome

Entry

H02189                      Disease

Name

Neurofibromatosis-Noonan syndrome

Supergrp

Noonan syndrome and related disorders [DS:H00523]
Neurofibromatosis type 1 [DS:H01437]

Description

Neurofibromatosis-Noonan syndrome (NFNS) presents combined characteristics of both autosomal dominant disorders, neurofibromatosis type 1 (NF1) and Noonan syndrome (NS). NF1 is characterized by neurofibromas, cafe-au-lait spots, osseous lesions, and brain tumors such as gliomas. NS presents characteristic facial appearance, short stature, hypertelorism, strabismus, and low-set ears. It has been reported that mutations in the NF1 gene are associated with NFNS.

Category

Congenital malformation

Brite

Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
  Multiple developmental anomalies or syndromes
   LD27  Syndromes with skin or mucosal anomalies as a major feature
    H02189  Neurofibromatosis-Noonan syndrome
Pathway-based classification of diseases [BR:br08402]
Signal transduction
  nt06526  MAPK signaling
   H02189  Neurofibromatosis-Noonan 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

Yapijakis C, Pachis N, Natsis S, Voumvourakis C

Title

Is Neurofibromatosis Type 1-Noonan Syndrome a Phenotypic Result of Combined Genetic and Epigenetic Factors?

Journal

In Vivo 30:315-20 (2016)

Reference

Authors

Baralle D, Mattocks C, Kalidas K, Elmslie F, Whittaker J, Lees M, Ragge N, Patton MA, Winter RM, ffrench-Constant C

Title

Different mutations in the NF1 gene are associated with Neurofibromatosis-Noonan syndrome (NFNS).

Journal

Am J Med Genet A 119A:1-8 (2003)
DOI:10.1002/ajmg.a.20023

LinkDB

» Japanese version

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