KEGG DISEASE: Noonan-like syndrome with loose anagen hair

KEGG

DISEASE: Noonan-like syndrome with loose anagen hair

Entry

H02191                      Disease

Name

Noonan-like syndrome with loose anagen hair

Supergrp

Noonan syndrome and related disorders [DS:H00523]

Description

Noonan-like syndrome with loose anagen hair (NSLH) is characterized by features similar to those observed in Noonan syndrome. Besides, the most characteristic feature is the hair anomaly, including easily pluckable, sparse, thin, slow growing. NSLH is caused by the mutations in SHOC2. Recently, the novel NSLH with mutations in PPP1CB has been identified.

Category

Congenital malformation

Brite

Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
  Multiple developmental anomalies or syndromes
   LD2F  Syndromes with multiple structural anomalies, without predominant body system involvement
    H02191  Noonan-like syndrome with loose anagen hair
Pathway-based classification of diseases [BR:br08402]
Signal transduction
  nt06526  MAPK signaling
   H02191  Noonan-like syndrome with loose anagen hair

Pathway

Ras signaling pathway

Network

nt06526 MAPK signaling

Gene

(NSLH1) SHOC2 [HSA:8036] [KO:K19613]
(NSLH2) PPP1CB [HSA:5500] [KO:K06269]

Other DBs

ICD-11:

MeSH:

OMIM:

Reference

Authors

Cordeddu V, Di Schiavi E, Pennacchio LA, Ma'ayan A, Sarkozy A, Fodale V, Cecchetti S, Cardinale A, Martin J, Schackwitz W, Lipzen A, Zampino G, Mazzanti L, Digilio MC, Martinelli S, Flex E, Lepri F, Bartholdi D, Kutsche K, Ferrero GB, Anichini C, Selicorni A, Rossi C, Tenconi R, Zenker M, Merlo D, Dallapiccola B, Iyengar R, Bazzicalupo P, Gelb BD, Tartaglia M

Title

Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair.

Journal

Nat Genet 41:1022-6 (2009)
DOI:10.1038/ng.425

Reference

Authors

Bertola D, Yamamoto G, Buscarilli M, Jorge A, Passos-Bueno MR, Kim C

Title

The recurrent PPP1CB mutation p.Pro49Arg in an additional Noonan-like syndrome individual: Broadening the clinical phenotype.

Journal

Am J Med Genet A 173:824-828 (2017)
DOI:10.1002/ajmg.a.38070

LinkDB

» Japanese version

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