KEGG DISEASE: CBL syndrome

KEGG

DISEASE: CBL syndrome

Entry

H02190                      Disease

Name

CBL syndrome;
Noonan syndrome-like disorder with juvenile myelomonocytic leukemia

Supergrp

Noonan syndrome and related disorders [DS:H00523]

Description

CBL is a ubiquitously expressed E3 ubiquitin ligase that negatively regulates intracellular signalling downstream of receptor tyrosine kinases. Missense CBL mutations cause impaired growth, developmental delay, and cryptorchidism resembling Noonan syndrome. In addition, patients have distinctive facial features, cardiovascular malformation, cerebellar vermis hypoplasia, and predisposition to juvenile myelomonocytic leukaemia.

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
    H02190  CBL syndrome
Pathway-based classification of diseases [BR:br08402]
Signal transduction
  nt06526  MAPK signaling
   H02190  CBL syndrome

Pathway

ErbB signaling pathway

Insulin signaling pathway

Endocytosis

Network

nt06526 MAPK signaling

Gene

CBL [HSA:867] [KO:K04707]

Other DBs

ICD-11:

OMIM:

Reference

Authors

Niemeyer CM, Kang MW, Shin DH, Furlan I, Erlacher M, Bunin NJ, Bunda S, Finklestein JZ, Gorr TA, Mehta P, Schmid I, Kropshofer G, Corbacioglu S, Lang PJ, Klein C, Schlegel PG, Heinzmann A, Schneider M, Stary J, van den Heuvel-Eibrink MM, Hasle H, Locatelli F, Sakai D, Archambeault S, Chen L, Russell RC, Sybingco SS, Ohh M, Braun BS, Flotho C, Loh ML

Title

Germline CBL mutations cause developmental abnormalities and predispose to juvenile myelomonocytic leukemia.

Journal

Nat Genet 42:794-800 (2010)
DOI:10.1038/ng.641

Reference

Authors

Roberts AE, Allanson JE, Tartaglia M, Gelb BD

Title

Noonan syndrome.

Journal

Lancet 381:333-42 (2013)
DOI:10.1016/S0140-6736(12)61023-X

LinkDB

» Japanese version

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