KEGG   DISEASE: Myhre syndrome
Entry
H02102                      Disease                                

Name
Myhre syndrome
Description
Myhre syndrome 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 [BR:br08402]
 Congenital malformations
  Other congenital malformations
   H02102  Myhre syndrome
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
Related
pathway
hsa04110  Cell cycle
hsa04310  Wnt signaling pathway
hsa04350  TGF-beta signaling pathway
hsa04390  Hippo signaling pathway
Gene
SMAD4 [HSA:4089] [KO:K04501]
Other DBs
ICD-11: LD2F.1Y
ICD-10: Q87.8
MeSH: C537620
OMIM: 139210
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

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