Format

Send to:

Choose Destination

Links from Gene

Mental retardation, autosomal dominant 11(MRD11)

MedGen UID:
481915
Concept ID:
C3280285
Disease or Syndrome
Synonyms: MRD11
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Sources: HPO, OMIM, Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
Autosomal dominant inheritance (HPO, OMIM, Orphanet)
 
Gene (location): EPB41L1 (20q11.23)
OMIM®: 614257

Clinical features

Intellectual disability
MedGen UID:
334384
Concept ID:
C1843367
Finding

Recent clinical studies

Etiology

Carmona-Iragui M, Balasa M, Benejam B, Alcolea D, Fernández S, Videla L, Sala I, Sánchez-Saudinós MB, Morenas-Rodriguez E, Ribosa-Nogué R, Illán-Gala I, Gonzalez-Ortiz S, Clarimón J, Schmitt F, Powell DK, Bosch B, Lladó A, Rafii MS, Head E, Molinuevo JL, Blesa R, Videla S, Lleó A, Sánchez-Valle R, Fortea J
Alzheimers Dement 2017 Nov;13(11):1251-1260. Epub 2017 Apr 29 doi: 10.1016/j.jalz.2017.03.007. PMID: 28463681Free PMC Article
Delplanque J, Devos D, Huin V, Genet A, Sand O, Moreau C, Goizet C, Charles P, Anheim M, Monin ML, Buée L, Destée A, Grolez G, Delmaire C, Dujardin K, Dellacherie D, Brice A, Stevanin G, Strubi-Vuillaume I, Dürr A, Sablonnière B
Brain 2014 Oct;137(Pt 10):2657-63. Epub 2014 Jul 28 doi: 10.1093/brain/awu202. PMID: 25070513
Jones GE, Ostergaard P, Moore AT, Connell FC, Williams D, Quarrell O, Brady AF, Spier I, Hazan F, Moldovan O, Wieczorek D, Mikat B, Petit F, Coubes C, Saul RA, Brice G, Gordon K, Jeffery S, Mortimer PS, Vasudevan PC, Mansour S
Eur J Hum Genet 2014 Jul;22(7):881-7. Epub 2013 Nov 27 doi: 10.1038/ejhg.2013.263. PMID: 24281367Free PMC Article
López-Laso E, Sánchez-Raya A, Moriana JA, Martínez-Gual E, Camino-León R, Mateos-González ME, Pérez-Navero JL, Ochoa-Sepúlveda JJ, Ormazabal A, Opladen T, Klein C, Lao-Villadóniga JI, Beyer K, Artuch R
J Neurol 2011 Dec;258(12):2155-62. Epub 2011 May 10 doi: 10.1007/s00415-011-6079-9. PMID: 21556877
Finch R, Moore HG, Lindor N, Jalal SM, Markowitz A, Suresh J, Offit K, Guillem JG
Dis Colon Rectum 2005 Nov;48(11):2148-52. doi: 10.1007/s10350-005-0177-7. PMID: 16228830

Diagnosis

Kuroda Y, Saito T, Nagai J, Ida K, Naruto T, Masuno M, Kurosawa K
Am J Med Genet A 2015 Feb;167A(2):389-93. Epub 2014 Dec 8 doi: 10.1002/ajmg.a.36813. PMID: 25487640
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
Bartholdi D, Stray-Pedersen A, Azzarello-Burri S, Kibaek M, Kirchhoff M, Oneda B, Rødningen O, Schmitt-Mechelke T, Rauch A, Kjaergaard S
Am J Med Genet A 2014 May;164A(5):1277-83. Epub 2014 Mar 24 doi: 10.1002/ajmg.a.36439. PMID: 24664804
Jones GE, Ostergaard P, Moore AT, Connell FC, Williams D, Quarrell O, Brady AF, Spier I, Hazan F, Moldovan O, Wieczorek D, Mikat B, Petit F, Coubes C, Saul RA, Brice G, Gordon K, Jeffery S, Mortimer PS, Vasudevan PC, Mansour S
Eur J Hum Genet 2014 Jul;22(7):881-7. Epub 2013 Nov 27 doi: 10.1038/ejhg.2013.263. PMID: 24281367Free PMC Article
Peippo M, Valanne L, Perhomaa M, Toivanen L, Ignatius J
Am J Med Genet A 2009 Nov;149A(11):2593-601. doi: 10.1002/ajmg.a.33019. PMID: 19839038

Therapy

Matevosyan NR
Arch Gynecol Obstet 2016 Jan;293(1):87-99. Epub 2015 Jun 11 doi: 10.1007/s00404-015-3770-6. PMID: 26063342
Walz K, Cohen D, Neilsen PM, Foster J 2nd, Brancati F, Demir K, Fisher R, Moffat M, Verbeek NE, Bjørgo K, Lo Castro A, Curatolo P, Novelli G, Abad C, Lei C, Zhang L, Diaz-Horta O, Young JI, Callen DF, Tekin M
Hum Genet 2015 Feb;134(2):181-90. Epub 2014 Nov 21 doi: 10.1007/s00439-014-1509-2. PMID: 25413698
Srivastava S, Cohen JS, Vernon H, Barañano K, McClellan R, Jamal L, Naidu S, Fatemi A
Ann Neurol 2014 Oct;76(4):473-83. Epub 2014 Aug 30 doi: 10.1002/ana.24251. PMID: 25131622

Prognosis

Finetti M, Omenetti A, Federici S, Caorsi R, Gattorno M
Orphanet J Rare Dis 2016 Dec 7;11(1):167. doi: 10.1186/s13023-016-0542-8. PMID: 27927236Free PMC Article
Agha Z, Iqbal Z, Azam M, Ayub H, Vissers LE, Gilissen C, Ali SH, Riaz M, Veltman JA, Pfundt R, van Bokhoven H, Qamar R
PLoS One 2014;9(11):e112687. Epub 2014 Nov 18 doi: 10.1371/journal.pone.0112687. PMID: 25405613Free PMC Article
Srivastava S, Cohen JS, Vernon H, Barañano K, McClellan R, Jamal L, Naidu S, Fatemi A
Ann Neurol 2014 Oct;76(4):473-83. Epub 2014 Aug 30 doi: 10.1002/ana.24251. PMID: 25131622
Tunovic S, Barkovich J, Sherr EH, Slavotinek AM
Am J Med Genet A 2014 Jul;164A(7):1744-9. Epub 2014 May 16 doi: 10.1002/ajmg.a.36450. PMID: 24838796
Franceschini P, Guala A, Vardeu MP, Signorile F, Franceschini D, Mastroiacovo P, Gianotti A, Livini E, Lalatta F, Selicorni A, Andria G, Scarano G, Della Monica M, Rizzo R, Zelante L, Stabile M, Gabrielli O, Neri G
Minerva Pediatr 1996 Oct;48(10):421-8. PMID: 9017917

Clinical prediction guides

Agha Z, Iqbal Z, Azam M, Ayub H, Vissers LE, Gilissen C, Ali SH, Riaz M, Veltman JA, Pfundt R, van Bokhoven H, Qamar R
PLoS One 2014;9(11):e112687. Epub 2014 Nov 18 doi: 10.1371/journal.pone.0112687. PMID: 25405613Free PMC Article
Tunovic S, Barkovich J, Sherr EH, Slavotinek AM
Am J Med Genet A 2014 Jul;164A(7):1744-9. Epub 2014 May 16 doi: 10.1002/ajmg.a.36450. PMID: 24838796
Bartholdi D, Stray-Pedersen A, Azzarello-Burri S, Kibaek M, Kirchhoff M, Oneda B, Rødningen O, Schmitt-Mechelke T, Rauch A, Kjaergaard S
Am J Med Genet A 2014 May;164A(5):1277-83. Epub 2014 Mar 24 doi: 10.1002/ajmg.a.36439. PMID: 24664804
Strømme P, Sundet K, Mørk C, Cassiman JJ, Fryns JP, Claes S
J Med Genet 1999 May;36(5):374-8. PMID: 10353782Free PMC Article
Mejía-Baltodano G, Bobadilla L, Solís A, Mendoza R, Díaz-Gallardo MY, Barros-Núñez P
Genet Couns 1997;8(4):311-6. PMID: 9457500

Supplemental Content

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...
Support Center