KEGG   DISEASE: Adams-Oliver syndromeHelp
Entry
H01413                      Disease                                

Name
Adams-Oliver syndrome
Description
Adams-Oliver syndrome (AOS) is a rare condition defined by the combination of aplasia cutis congenita (ACC), characterized by scalp and skull lesions, and transverse limb abnormalities. Mutations in ARHGAP31 (AOS1), RBPJ (AOS3) and NOTCH1 (AOS5) cause autosomal dominant AOS. Mutations in DOCK6 (AOS2) and EOGT (AOS4) result in autosomal recessive AOS.
Category
Congenital malformation
Brite
Human diseases [BR:br08402]
 Congenital malformations
  Other congenital malformations
   H01413  Adams-Oliver 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
    H01413  Adams-Oliver syndrome
BRITE hierarchy
Pathway
hsa04330  Notch signaling pathway
Gene
(AOS1) ARHGAP31 [HSA:57514] [KO:K20646]
(AOS2) DOCK6 [HSA:57572] [KO:K21852]
(AOS3) RBPJ [HSA:3516] [KO:K06053]
(AOS4) EOGT [HSA:285203] [KO:K18134]
(AOS5) NOTCH1 [HSA:4851] [KO:K02599]
(AOS6) DLL4 [HSA:54567] [KO:K06051]
Other DBs
ICD-11: LD2F.1Y
ICD-10: Q87.2
MeSH: C538225
OMIM: 100300 614219 614814 615297 616028 616589
Reference
  Authors
Silva G, Braga A, Leitao B, Mesquita A, Reis A, Duarte C, Barbot J, Silva ES
  Title
Adams-Oliver syndrome and portal hypertension: fortuitous association or common mechanism?
  Journal
Am J Med Genet A 158A:648-51 (2012)
DOI:10.1002/ajmg.a.34435
Reference
  Authors
Southgate L, Machado RD, Snape KM, Primeau M, Dafou D, Ruddy DM, Branney PA, Fisher M, Lee GJ, Simpson MA, He Y, Bradshaw TY, Blaumeiser B, Winship WS, Reardon W, Maher ER, FitzPatrick DR, Wuyts W, Zenker M, Lamarche-Vane N, Trembath RC
  Title
Gain-of-function mutations of ARHGAP31, a Cdc42/Rac1 GTPase regulator, cause syndromic cutis aplasia and limb anomalies.
  Journal
Am J Hum Genet 88:574-85 (2011)
DOI:10.1016/j.ajhg.2011.04.013
Reference
  Authors
Shaheen R, Faqeih E, Sunker A, Morsy H, Al-Sheddi T, Shamseldin HE, Adly N, Hashem M, Alkuraya FS
  Title
Recessive mutations in DOCK6, encoding the guanidine nucleotide exchange factor DOCK6, lead to abnormal actin cytoskeleton organization and Adams-Oliver syndrome.
  Journal
Am J Hum Genet 89:328-33 (2011)
DOI:10.1016/j.ajhg.2011.07.009
Reference
  Authors
Hassed SJ, Wiley GB, Wang S, Lee JY, Li S, Xu W, Zhao ZJ, Mulvihill JJ, Robertson J, Warner J, Gaffney PM
  Title
RBPJ mutations identified in two families affected by Adams-Oliver syndrome.
  Journal
Am J Hum Genet 91:391-5 (2012)
DOI:10.1016/j.ajhg.2012.07.005
Reference
  Authors
Shaheen R, Aglan M, Keppler-Noreuil K, Faqeih E, Ansari S, Horton K, Ashour A, Zaki MS, Al-Zahrani F, Cueto-Gonzalez AM, Abdel-Salam G, Temtamy S, Alkuraya FS
  Title
Mutations in EOGT confirm the genetic heterogeneity of autosomal-recessive Adams-Oliver syndrome.
  Journal
Am J Hum Genet 92:598-604 (2013)
DOI:10.1016/j.ajhg.2013.02.012
Reference
  Authors
Stittrich AB, Lehman A, Bodian DL, Ashworth J, Zong Z, Li H, Lam P, Khromykh A, Iyer RK, Vockley JG, Baveja R, Silva ES, Dixon J, Leon EL, Solomon BD, Glusman G, Niederhuber JE, Roach JC, Patel MS
  Title
Mutations in NOTCH1 cause Adams-Oliver syndrome.
  Journal
Am J Hum Genet 95:275-84 (2014)
DOI:10.1016/j.ajhg.2014.07.011
Reference
  Authors
Meester JA, Southgate L, Stittrich AB, Venselaar H, Beekmans SJ, den Hollander N, Bijlsma EK, Helderman-van den Enden A, Verheij JB, Glusman G, Roach JC, Lehman A, Patel MS, de Vries BB, Ruivenkamp C, Itin P, Prescott K, Clarke S, Trembath R, Zenker M, Sukalo M, Van Laer L, Loeys B, Wuyts W
  Title
Heterozygous Loss-of-Function Mutations in DLL4 Cause Adams-Oliver Syndrome.
  Journal
Am J Hum Genet 97:475-82 (2015)
DOI:10.1016/j.ajhg.2015.07.015

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