KEGG   DISEASE: Richieri-Costa-Pereira syndrome
Entry
H02503                      Disease                                
Name
Richieri-Costa-Pereira syndrome
Description
Richieri-Costa-Pereira syndrome (RCPS) is a rare autosomal recessive disorder characterized by short stature, Robin sequence, cleft mandible, and limb anomalies. This disorder is caused by decreased levels of EIF4A3, mostly due to an increased number of repeats at the 5'untranslated region (UTR) of EIF4A3.
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
    H02503  Richieri-Costa-Pereira syndrome
Pathway
hsa03040  Spliceosome
hsa03015  mRNA surveillance pathway
Gene
EIF4A3 [HSA:9775] [KO:K13025]
Comment
The triad of micrognathia, glossoptosis, and resultant airway obstruction is known as Robin sequence.
Other DBs
ICD-11: LD2F.1Y
MeSH: C535677
OMIM: 268305
Reference
PMID:24360810
  Authors
Favaro FP, Alvizi L, Zechi-Ceide RM, Bertola D, Felix TM, de Souza J, Raskin S, Twigg SR, Weiner AM, Armas P, Margarit E, Calcaterra NB, Andersen GR, McGowan SJ, Wilkie AO, Richieri-Costa A, de Almeida ML, Passos-Bueno MR
  Title
A noncoding expansion in EIF4A3 causes Richieri-Costa-Pereira syndrome, a craniofacial disorder associated with limb defects.
  Journal
Am J Hum Genet 94:120-8 (2014)
DOI:10.1016/j.ajhg.2013.11.020
Reference
PMID:29922329
  Authors
Hsia GSP, Musso CM, Alvizi L, Brito LA, Kobayashi GS, Pavanello RCM, Zatz M, Gardham A, Wakeling E, Zechi-Ceide RM, Bertola D, Passos-Bueno MR
  Title
Complexity of the 5' Untranslated Region of EIF4A3, a Critical Factor for Craniofacial and Neural Development.
  Journal
Front Genet 9:149 (2018)
DOI:10.3389/fgene.2018.00149
Reference
PMID:21464188
  Authors
Evans KN, Sie KC, Hopper RA, Glass RP, Hing AV, Cunningham ML
  Title
Robin sequence: from diagnosis to development of an effective management plan.
  Journal
Pediatrics 127:936-48 (2011)
DOI:10.1542/peds.2010-2615
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