KEGG DISEASE: Myhre syndrome

KEGG

DISEASE: Myhre syndrome

Entry

H02102                      Disease

Name

Myhre syndrome

Description

Myhre syndrome (MYHRS) is a developmental disorder characterized by reduced growth, generalized muscular hypertrophy, facial dysmorphism, deafness, cognitive deficits, joint stiffness, and skeletal anomalies. Heterozygous missense mutations in SMAD4 cause this disease. SMAD4 plays a pivotal role in the bone morphogenetic pathway and TGF-beta signaling.

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
    H02102  Myhre syndrome
Pathway-based classification of diseases [BR:br08402]
Signal transduction
  nt06507  TGFB signaling
   H02102  Myhre syndrome

Pathway

Cell cycle

Wnt signaling pathway

TGF-beta signaling pathway

Hippo signaling pathway

Network

nt06507 TGFB signaling

Gene

SMAD4 [HSA:4089] [KO:K04501]

Other DBs

ICD-11:

ICD-10:

MeSH:

OMIM:

Reference

Authors

Caputo V, Cianetti L, Niceta M, Carta C, Ciolfi A, Bocchinfuso G, Carrani E, Dentici ML, Biamino E, Belligni E, Garavelli L, Boccone L, Melis D, Andria G, Gelb BD, Stella L, Silengo M, Dallapiccola B, Tartaglia M

Title

A restricted spectrum of mutations in the SMAD4 tumor-suppressor gene underlies Myhre syndrome.

Journal

Am J Hum Genet 90:161-9 (2012)
DOI:10.1016/j.ajhg.2011.12.011

Reference

Authors

Le Goff C, Mahaut C, Abhyankar A, Le Goff W, Serre V, Afenjar A, Destree A, di Rocco M, Heron D, Jacquemont S, Marlin S, Simon M, Tolmie J, Verloes A, Casanova JL, Munnich A, Cormier-Daire V

Title

Mutations at a single codon in Mad homology 2 domain of SMAD4 cause Myhre syndrome.

Journal

Nat Genet 44:85-8 (2011)
DOI:10.1038/ng.1016

LinkDB

» Japanese version

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