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Intellectual disability, autosomal dominant 51(MRD51)

MedGen UID:
1625009
Concept ID:
C4540474
Mental or Behavioral Dysfunction
Synonyms: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 51; MENTAL RETARDATION, AUTOSOMAL DOMINANT 51
 
KMT5B (11q13.2)
 
Monarch Initiative: MONDO:0030917
OMIM®: 617788

Clinical features

From HPO

Recent clinical studies

Etiology

Odak L, Vulin K, Meašić AM, Šamadan L, Tripalo Batoš A
Croat Med J 2023 Oct 31;64(5):334-338. doi: 10.3325/cmj.2023.64.334. PMID: 37927187Free PMC Article
Boerwinkle AH, Gordon BA, Wisch J, Flores S, Henson RL, Butt OH, McKay N, Chen CD, Benzinger TLS, Fagan AM, Handen BL, Christian BT, Head E, Mapstone M, Rafii MS, O'Bryant S, Lai F, Rosas HD, Lee JH, Silverman W, Brickman AM, Chhatwal JP, Cruchaga C, Perrin RJ, Xiong C, Hassenstab J, McDade E, Bateman RJ, Ances BM; Alzheimer's Biomarker Consortium-Down Syndrome; Dominantly Inherited Alzheimer Network
Lancet Neurol 2023 Jan;22(1):55-65. doi: 10.1016/S1474-4422(22)00408-2. PMID: 36517172Free PMC Article
Manoochehri J, Goodarzi HR, Tabei SMB
J Genet 2022;101 PMID: 36226339
Schwartz DD, Fein RH, Carvalho CMB, Sutton VR, Mazzeu JF, Axelrad ME
Am J Med Genet A 2021 Dec;185(12):3576-3583. Epub 2020 Sep 21 doi: 10.1002/ajmg.a.61854. PMID: 32954672
McDonald CM, Johnson ER, Abresch RT, Carter GT, Fowler WM Jr, Kilmer DD
Am J Phys Med Rehabil 1995 Sep-Oct;74(5 Suppl):S117-30. doi: 10.1097/00002060-199509001-00006. PMID: 7576419

Diagnosis

Zhou F, Zhong H, Wu B, Cui Y, Li J, Jia X, Yu C, Li D, Shu J, Cai C
Mol Biol Rep 2024 Aug 8;51(1):899. doi: 10.1007/s11033-024-09835-5. PMID: 39115759
Nagarajan B, Gowda VK, Yoganathan S, Sharawat IK, Srivastava K, Vora N, Badheka R, Danda S, Kalane U, Kaur A, Madaan P, Mehta S, Negi S, Panda PK, Rajadhyaksha S, Saini AG, Saini L, Shah S, Srinivasan VM, Suthar R, Thomas M, Vyas S, Sankhyan N, Sahu JK
Epilepsia Open 2023 Dec;8(4):1383-1404. Epub 2023 Aug 25 doi: 10.1002/epi4.12811. PMID: 37583270Free PMC Article
Tanaka Y, Morisada N, Suzuki T, Ohashi Y, Ye MJ, Nozu K, Tsuruta S, Iijima K
CEN Case Rep 2021 May;10(2):184-188. Epub 2020 Oct 13 doi: 10.1007/s13730-020-00543-0. PMID: 33048330Free PMC Article
Kruszka P, Addissie YA, Yarnell CM, Hadley DW, Guillen Sacoto MJ, Platte P, Paelecke Y, Collmann H, Snow N, Schweitzer T, Boyadjiev SA, Aravidis C, Hall SE, Mulliken JB, Roscioli T, Muenke M
Am J Med Genet A 2016 Apr;170A(4):918-29. Epub 2016 Jan 6 doi: 10.1002/ajmg.a.37528. PMID: 26740388
Redin C, Gérard B, Lauer J, Herenger Y, Muller J, Quartier A, Masurel-Paulet A, Willems M, Lesca G, El-Chehadeh S, Le Gras S, Vicaire S, Philipps M, Dumas M, Geoffroy V, Feger C, Haumesser N, Alembik Y, Barth M, Bonneau D, Colin E, Dollfus H, Doray B, Delrue MA, Drouin-Garraud V, Flori E, Fradin M, Francannet C, Goldenberg A, Lumbroso S, Mathieu-Dramard M, Martin-Coignard D, Lacombe D, Morin G, Polge A, Sukno S, Thauvin-Robinet C, Thevenon J, Doco-Fenzy M, Genevieve D, Sarda P, Edery P, Isidor B, Jost B, Olivier-Faivre L, Mandel JL, Piton A
J Med Genet 2014 Nov;51(11):724-36. Epub 2014 Aug 28 doi: 10.1136/jmedgenet-2014-102554. PMID: 25167861Free PMC Article

Prognosis

Zhou F, Zhong H, Wu B, Cui Y, Li J, Jia X, Yu C, Li D, Shu J, Cai C
Mol Biol Rep 2024 Aug 8;51(1):899. doi: 10.1007/s11033-024-09835-5. PMID: 39115759

Clinical prediction guides

Zhou F, Zhong H, Wu B, Cui Y, Li J, Jia X, Yu C, Li D, Shu J, Cai C
Mol Biol Rep 2024 Aug 8;51(1):899. doi: 10.1007/s11033-024-09835-5. PMID: 39115759
Nagarajan B, Gowda VK, Yoganathan S, Sharawat IK, Srivastava K, Vora N, Badheka R, Danda S, Kalane U, Kaur A, Madaan P, Mehta S, Negi S, Panda PK, Rajadhyaksha S, Saini AG, Saini L, Shah S, Srinivasan VM, Suthar R, Thomas M, Vyas S, Sankhyan N, Sahu JK
Epilepsia Open 2023 Dec;8(4):1383-1404. Epub 2023 Aug 25 doi: 10.1002/epi4.12811. PMID: 37583270Free PMC Article
Alsaqati M, Heine VM, Harwood AJ
Mol Autism 2020 Oct 19;11(1):80. doi: 10.1186/s13229-020-00391-w. PMID: 33076974Free PMC Article
Lindstrand A, Grigelioniene G, Nilsson D, Pettersson M, Hofmeister W, Anderlid BM, Kant SG, Ruivenkamp CA, Gustavsson P, Valta H, Geiberger S, Topa A, Lagerstedt-Robinson K, Taylan F, Wincent J, Laurell T, Pekkinen M, Nordenskjöld M, Mäkitie O, Nordgren A
J Med Genet 2014 Jan;51(1):45-54. Epub 2013 Nov 7 doi: 10.1136/jmedgenet-2013-101937. PMID: 24203977
van Leeuwen FW, van Tijn P, Sonnemans MA, Hobo B, Mann DM, Van Broeckhoven C, Kumar-Singh S, Cras P, Leuba G, Savioz A, Maat-Schieman ML, Yamaguchi H, Kros JM, Kamphorst W, Hol EM, de Vos RA, Fischer DF
Neurology 2006 Jan 24;66(2 Suppl 1):S86-92. doi: 10.1212/01.wnl.0000193882.46003.6d. PMID: 16432153

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