KEGG   DISEASE: RAPADILINO syndrome
Entry
H00965                      Disease                                

Name
RAPADILINO syndrome
  Supergrp
Defects in RecQ helicases [DS:H00296]
Description
RAPADILINO syndrome is an abbreviation of its hallmark features: radial hypo-/aplasia, patellae hypo-/aplasia and cleft or highly arched palate, diarrhoea and dislocated joints, little size and limb malformation, nose slender and normal intelligence. It is an autosomal recessive disorder caused by mutations in human DNA helicase RECQL4. Unlike its allelic disorders Rothmund-Thomson syndrome and Baller-Gerold syndrome, RAPADILINO syndrome lacks poikiloderma.
Category
Congenital malformation
Brite
Human diseases [BR:br08402]
 Congenital malformations
  Other congenital malformations
   H00965  RAPADILINO 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
    H00965  RAPADILINO syndrome
Gene
RECQL4 [HSA:9401] [KO:K10730]
Comment
Disorder of DNA repair system
Other DBs
ICD-11: LD2F.1Y
ICD-10: Q87.1
MeSH: C535288
OMIM: 266280
Reference
  Authors
Siitonen HA, Sotkasiira J, Biervliet M, Benmansour A, Capri Y, Cormier-Daire V, Crandall B, Hannula-Jouppi K, Hennekam R, Herzog D, Keymolen K, Lipsanen-Nyman M, Miny P, Plon SE, Riedl S, Sarkar A, Vargas FR, Verloes A, Wang LL, Kaariainen H, Kestila M
  Title
The mutation spectrum in RECQL4 diseases.
  Journal
Eur J Hum Genet 17:151-8 (2009)
DOI:10.1038/ejhg.2008.154
Reference
  Authors
Kellermayer R
  Title
The versatile RECQL4.
  Journal
Genet Med 8:213-6 (2006)
DOI:10.1097/01.gim.0000214457.58378.1a
Reference
  Authors
Dietschy T, Shevelev I, Stagljar I
  Title
The molecular role of the Rothmund-Thomson-, RAPADILINO- and Baller-Gerold-gene product, RECQL4: recent progress.
  Journal
Cell Mol Life Sci 64:796-802 (2007)
DOI:10.1007/s00018-007-6468-5
Reference
  Authors
Siitonen HA, Kopra O, Kaariainen H, Haravuori H, Winter RM, Saamanen AM, Peltonen L, Kestila M
  Title
Molecular defect of RAPADILINO syndrome expands the phenotype spectrum of RECQL diseases.
  Journal
Hum Mol Genet 12:2837-44 (2003)
DOI:10.1093/hmg/ddg306
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