KEGG   DISEASE: Tenorio syndrome
Entry
H01806                      Disease                                
Name
Tenorio syndrome
Description
Tenorio syndrome is a overgrowth syndrome characterized by overgrowth, macrocephaly, intellectual disability, mild hydrocephaly, hypoglycemia, and inflammatory diseases resembling Sjogren's syndrome [DS:H01502]. Mutations in RNF125, encoding an E3 ubiquitin ligase, have been found from patients. It have been demonstrated that mutations in RNF125 result in a loss of function of RNF125 and dysregulation of the RIG-I-IPS1, PI3K-AKT, and interferon pathways.
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
 20 Developmental anomalies
  Multiple developmental anomalies or syndromes
   LD2C  Overgrowth syndromes
    H01806  Tenorio syndrome
Pathway-based classification of diseases [BR:br08402]
 Immune system
  nt06519  RLR signaling
   H01806  Tenorio syndrome
Pathway
hsa04622  RIG-I-like receptor signaling pathway
Network
nt06519 RLR signaling
Gene
RNF125 [HSA:54941] [KO:K12170]
Other DBs
ICD-11: LD2C
OMIM: 616260
Reference
PMID:25196541
  Authors
Tenorio J, Mansilla A, Valencia M, Martinez-Glez V, Romanelli V, Arias P, Castrejon N, Poletta F, Guillen-Navarro E, Gordo G, Mansilla E, Garcia-Santiago F, Gonzalez-Casado I, Vallespin E, Palomares M, Mori MA, Santos-Simarro F, Garcia-Minaur S, Fernandez L, Mena R, Benito-Sanz S, del Pozo A, Silla JC, Ibanez K, Lopez-Granados E, Martin-Trujillo A, Montaner D, Heath KE, Campos-Barros A, Dopazo J, Nevado J, Monk D, Ruiz-Perez VL, Lapunzina P
  Title
A new overgrowth syndrome is due to mutations in RNF125.
  Journal
Hum Mutat 35:1436-41 (2014)
DOI:10.1002/humu.22689
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