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Angelman syndrome due to maternal 15q11q13 deletion

MedGen UID:
1797757
Concept ID:
C5566334
Disease or Syndrome
Synonym: Angelman syndrome due to maternal monosomy 15q11q13
SNOMED CT: Angelman syndrome due to maternal monosomy 15q11q13 (1162462009)
 
Monarch Initiative: MONDO:0020302
Orphanet: ORPHA98794

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAngelman syndrome due to maternal 15q11q13 deletion

Professional guidelines

PubMed

Yang L, Shu X, Mao S, Wang Y, Du X, Zou C
Genes (Basel) 2021 Jun 28;12(7) doi: 10.3390/genes12070987. PMID: 34203304Free PMC Article
Zylka MJ
Autism Res 2020 Jan;13(1):11-17. Epub 2019 Sep 6 doi: 10.1002/aur.2203. PMID: 31490639Free PMC Article
Guerrini R, Carrozzo R, Rinaldi R, Bonanni P
Paediatr Drugs 2003;5(10):647-61. doi: 10.2165/00148581-200305100-00001. PMID: 14510623

Recent clinical studies

Etiology

Zylka MJ
Autism Res 2020 Jan;13(1):11-17. Epub 2019 Sep 6 doi: 10.1002/aur.2203. PMID: 31490639Free PMC Article
Liu S, Zhang K, Song F, Yang Y, Lv Y, Gao M, Liu Y, Gai Z
Cytogenet Genome Res 2017;152(1):1-8. Epub 2017 Jun 24 doi: 10.1159/000477520. PMID: 28647735
Oliver C, Horsler K, Berg K, Bellamy G, Dick K, Griffiths E
J Child Psychol Psychiatry 2007 Jun;48(6):571-9. doi: 10.1111/j.1469-7610.2007.01736.x. PMID: 17537073
Moncla A, Malzac P, Voelckel MA, Auquier P, Girardot L, Mattei MG, Philip N, Mattei JF, Lalande M, Livet MO
Eur J Hum Genet 1999 Feb-Mar;7(2):131-9. doi: 10.1038/sj.ejhg.5200258. PMID: 10196695
Stalker HJ, Williams CA
Am J Med Genet 1998 Apr 28;77(1):54-9. PMID: 9557895

Diagnosis

Bell S, Butler KM, Drazba KT, Lynch J, Abidi FE, DuPont B, Stevenson RE
Clin Dysmorphol 2022 Apr 1;31(2):91-93. doi: 10.1097/MCD.0000000000000399. PMID: 34775449
Yang L, Shu X, Mao S, Wang Y, Du X, Zou C
Genes (Basel) 2021 Jun 28;12(7) doi: 10.3390/genes12070987. PMID: 34203304Free PMC Article
Zylka MJ
Autism Res 2020 Jan;13(1):11-17. Epub 2019 Sep 6 doi: 10.1002/aur.2203. PMID: 31490639Free PMC Article
Angulo MA, Butler MG, Cataletto ME
J Endocrinol Invest 2015 Dec;38(12):1249-63. Epub 2015 Jun 11 doi: 10.1007/s40618-015-0312-9. PMID: 26062517Free PMC Article
Margolis SS, Sell GL, Zbinden MA, Bird LM
Neurotherapeutics 2015 Jul;12(3):641-50. doi: 10.1007/s13311-015-0361-y. PMID: 26040994Free PMC Article

Therapy

Han J, Bichell TJ, Golden S, Anselm I, Waisbren S, Bacino CA, Peters SU, Bird LM, Kimonis V
Orphanet J Rare Dis 2019 Oct 22;14(1):232. doi: 10.1186/s13023-019-1216-0. PMID: 31640736Free PMC Article
Margolis SS, Sell GL, Zbinden MA, Bird LM
Neurotherapeutics 2015 Jul;12(3):641-50. doi: 10.1007/s13311-015-0361-y. PMID: 26040994Free PMC Article
Lalande M, Calciano MA
Cell Mol Life Sci 2007 Apr;64(7-8):947-60. doi: 10.1007/s00018-007-6460-0. PMID: 17347796
Galván-Manso M, Campistol J, Conill J, Sanmartí FX
Epileptic Disord 2005 Mar;7(1):19-25. PMID: 15741136

Prognosis

Muthusamy K, Macke EL, Klee EW, Tebben PJ, Hand JL, Hasadsri L, Marcou CA, Schimmenti LA
Am J Med Genet A 2020 Oct;182(10):2442-2449. Epub 2020 Aug 20 doi: 10.1002/ajmg.a.61792. PMID: 32815268
Zylka MJ
Autism Res 2020 Jan;13(1):11-17. Epub 2019 Sep 6 doi: 10.1002/aur.2203. PMID: 31490639Free PMC Article
Le Fevre A, Beygo J, Silveira C, Kamien B, Clayton-Smith J, Colley A, Buiting K, Dudding-Byth T
Am J Med Genet A 2017 Mar;173(3):753-757. doi: 10.1002/ajmg.a.38072. PMID: 28211971
Oliver C, Horsler K, Berg K, Bellamy G, Dick K, Griffiths E
J Child Psychol Psychiatry 2007 Jun;48(6):571-9. doi: 10.1111/j.1469-7610.2007.01736.x. PMID: 17537073
Kishino T, Lalande M, Wagstaff J
Nat Genet 1997 Jan;15(1):70-3. doi: 10.1038/ng0197-70. PMID: 8988171

Clinical prediction guides

Chung MS, Langouët M, Chamberlain SJ, Carmichael GG
Open Biol 2020 Sep;10(9):200195. Epub 2020 Sep 23 doi: 10.1098/rsob.200195. PMID: 32961075Free PMC Article
Rotaru DC, Mientjes EJ, Elgersma Y
Neuroscience 2020 Oct 1;445:172-189. Epub 2020 Feb 21 doi: 10.1016/j.neuroscience.2020.02.017. PMID: 32088294
Zylka MJ
Autism Res 2020 Jan;13(1):11-17. Epub 2019 Sep 6 doi: 10.1002/aur.2203. PMID: 31490639Free PMC Article
Sadhwani A, Willen JM, LaVallee N, Stepanians M, Miller H, Peters SU, Barbieri-Welge RL, Horowitz LT, Noll LM, Hundley RJ, Bird LM, Tan WH
Am J Med Genet A 2019 Jun;179(6):983-992. Epub 2019 Apr 3 doi: 10.1002/ajmg.a.61140. PMID: 30942555Free PMC Article
Guerrini R, Carrozzo R, Rinaldi R, Bonanni P
Paediatr Drugs 2003;5(10):647-61. doi: 10.2165/00148581-200305100-00001. PMID: 14510623

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