KEGG   DISEASE: Al-Awadi/Raas-Rothschild syndromeHelp
Entry
H00847                      Disease                                

Name
Al-Awadi/Raas-Rothschild syndrome;
Ulna and fibula, absence of, with sever limb deficiency
Description
Al-Awadi/Raas-Rothschild syndrome is a limb malformation disorder that has overlapping phenotype with Fuhrmann syndrome, but more-severe limb truncation is observed. This is due to complete loss of WNT7A function in Al-Awadi/Raas-Rothschild syndrome whereas impairment is partial in Fuhrmann syndrome.
Category
Congenital malformation
Brite
Human diseases [BR:br08402]
 Congenital malformations
  Congenital malformations of the musculoskeletal system
   H00847  Al-Awadi/Raas-Rothschild syndrome
Human diseases in ICD-11 classification [BR:br08403]
 20 Developmental anomalies
  Multiple developmental anomalies or syndromes
   LD26  Syndromes with limb anomalies as a major feature
    H00847  Al-Awadi/Raas-Rothschild syndrome
BRITE hierarchy
Gene
WNT7A [HSA:7476] [KO:K00572]
Other DBs
ICD-11: LD26.Y
ICD-10: Q87.2
MeSH: C535612
OMIM: 276820
Reference
PMID:8423611
  Authors
Camera G, Ferraiolo G, Leo D, Spaziale A, Pozzolo S
  Title
Limb/pelvis-hypoplasia/aplasia syndrome (Al-Awadi/Raas-Rothschild syndrome): report of two Italian sibs and further confirmation of autosomal recessive inheritance.
  Journal
J Med Genet 30:65-9 (1993)
DOI:10.1136/jmg.30.1.65
Reference
  Authors
Woods CG, Stricker S, Seemann P, Stern R, Cox J, Sherridan E, Roberts E, Springell K, Scott S, Karbani G, Sharif SM, Toomes C, Bond J, Kumar D, Al-Gazali L, Mundlos S
  Title
Mutations in WNT7A cause a range of limb malformations, including Fuhrmann syndrome and Al-Awadi/Raas-Rothschild/Schinzel phocomelia syndrome.
  Journal
Am J Hum Genet 79:402-8 (2006)
DOI:10.1086/506332
Reference
  Authors
Garavelli L, Wischmeijer A, Rosato S, Gelmini C, Reverberi S, Sassi S, Ferrari A, Mari F, Zabel B, Lausch E, Unger S, Superti-Furga A
  Title
Al-Awadi-Raas-Rothschild (limb/pelvis/uterus-hypoplasia/aplasia) syndrome and WNT7A mutations: genetic homogeneity and nosological delineation.
  Journal
Am J Med Genet A 155A:332-6 (2011)
DOI:10.1002/ajmg.a.33793

» Japanese version

DBGET integrated database retrieval system