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Intellectual disability, X-linked 81(XLID81)

MedGen UID:
335203
Concept ID:
C1845531
Mental or Behavioral Dysfunction
Synonyms: MRX81; XLID81
 
Monarch Initiative: MONDO:0010324
OMIM®: 300433

Clinical features

From HPO
Intellectual disability
MedGen UID:
811461
Concept ID:
C3714756
Mental or Behavioral Dysfunction
Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70.

Professional guidelines

PubMed

Vetri L, Calì F, Saccone S, Vinci M, Chiavetta NV, Carotenuto M, Roccella M, Costanza C, Elia M
Int J Mol Sci 2024 Jan 17;25(2) doi: 10.3390/ijms25021146. PMID: 38256219Free PMC Article
Lin L, Zhang Y, Pan H, Wang J, Qi Y, Ma Y
Orphanet J Rare Dis 2020 Nov 11;15(1):317. doi: 10.1186/s13023-020-01599-y. PMID: 33176815Free PMC Article
Shimozawa N, Honda A, Kajiwara N, Kozawa S, Nagase T, Takemoto Y, Suzuki Y
J Hum Genet 2011 Feb;56(2):106-9. Epub 2010 Nov 11 doi: 10.1038/jhg.2010.139. PMID: 21068741

Recent clinical studies

Etiology

Eichler F, Duncan CN, Musolino PL, Lund TC, Gupta AO, De Oliveira S, Thrasher AJ, Aubourg P, Kühl JS, Loes DJ, Amartino H, Smith N, Folloni Fernandes J, Sevin C, Sankar R, Hussain SA, Gissen P, Dalle JH, Platzbecker U, Downey GF, McNeil E, Demopoulos L, Dietz AC, Thakar HL, Orchard PJ, Williams DA
N Engl J Med 2024 Oct 10;391(14):1302-1312. doi: 10.1056/NEJMoa2400442. PMID: 39383459
Nakamura A, Matsumura T, Ogata K, Mori-Yoshimura M, Takeshita E, Kimura K, Kawashima T, Tomo Y, Arahata H, Miyazaki D, Takeshima Y, Takahashi T, Ishigaki K, Kuru S, Wakisaka A, Awano H, Funato M, Sato T, Saito Y, Takada H, Sugie K, Kobayashi M, Ozasa S, Fujii T, Maegaki Y, Oi H, Tachimori H, Komaki H
Ann Clin Transl Neurol 2023 Dec;10(12):2360-2372. Epub 2023 Oct 26 doi: 10.1002/acn3.51925. PMID: 37882106Free PMC Article
Anazi S, Maddirevula S, Faqeih E, Alsedairy H, Alzahrani F, Shamseldin HE, Patel N, Hashem M, Ibrahim N, Abdulwahab F, Ewida N, Alsaif HS, Al Sharif H, Alamoudi W, Kentab A, Bashiri FA, Alnaser M, AlWadei AH, Alfadhel M, Eyaid W, Hashem A, Al Asmari A, Saleh MM, AlSaman A, Alhasan KA, Alsughayir M, Al Shammari M, Mahmoud A, Al-Hassnan ZN, Al-Husain M, Osama Khalil R, Abd El Meguid N, Masri A, Ali R, Ben-Omran T, El Fishway P, Hashish A, Ercan Sencicek A, State M, Alazami AM, Salih MA, Altassan N, Arold ST, Abouelhoda M, Wakil SM, Monies D, Shaheen R, Alkuraya FS
Mol Psychiatry 2017 Apr;22(4):615-624. Epub 2016 Jul 19 doi: 10.1038/mp.2016.113. PMID: 27431290
Merwick A, O'Brien M, Delanty N
Epilepsia 2012 Sep;53 Suppl 4:81-91. doi: 10.1111/j.1528-1167.2012.03617.x. PMID: 22946725
Lubs HA, Stevenson RE, Schwartz CE
Am J Hum Genet 2012 Apr 6;90(4):579-90. doi: 10.1016/j.ajhg.2012.02.018. PMID: 22482801Free PMC Article

Diagnosis

Eichler F, Duncan CN, Musolino PL, Lund TC, Gupta AO, De Oliveira S, Thrasher AJ, Aubourg P, Kühl JS, Loes DJ, Amartino H, Smith N, Folloni Fernandes J, Sevin C, Sankar R, Hussain SA, Gissen P, Dalle JH, Platzbecker U, Downey GF, McNeil E, Demopoulos L, Dietz AC, Thakar HL, Orchard PJ, Williams DA
N Engl J Med 2024 Oct 10;391(14):1302-1312. doi: 10.1056/NEJMoa2400442. PMID: 39383459
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
Anazi S, Maddirevula S, Faqeih E, Alsedairy H, Alzahrani F, Shamseldin HE, Patel N, Hashem M, Ibrahim N, Abdulwahab F, Ewida N, Alsaif HS, Al Sharif H, Alamoudi W, Kentab A, Bashiri FA, Alnaser M, AlWadei AH, Alfadhel M, Eyaid W, Hashem A, Al Asmari A, Saleh MM, AlSaman A, Alhasan KA, Alsughayir M, Al Shammari M, Mahmoud A, Al-Hassnan ZN, Al-Husain M, Osama Khalil R, Abd El Meguid N, Masri A, Ali R, Ben-Omran T, El Fishway P, Hashish A, Ercan Sencicek A, State M, Alazami AM, Salih MA, Altassan N, Arold ST, Abouelhoda M, Wakil SM, Monies D, Shaheen R, Alkuraya FS
Mol Psychiatry 2017 Apr;22(4):615-624. Epub 2016 Jul 19 doi: 10.1038/mp.2016.113. PMID: 27431290
Lubs HA, Stevenson RE, Schwartz CE
Am J Hum Genet 2012 Apr 6;90(4):579-90. doi: 10.1016/j.ajhg.2012.02.018. PMID: 22482801Free PMC Article
Shimozawa N, Honda A, Kajiwara N, Kozawa S, Nagase T, Takemoto Y, Suzuki Y
J Hum Genet 2011 Feb;56(2):106-9. Epub 2010 Nov 11 doi: 10.1038/jhg.2010.139. PMID: 21068741

Therapy

Eichler F, Duncan CN, Musolino PL, Lund TC, Gupta AO, De Oliveira S, Thrasher AJ, Aubourg P, Kühl JS, Loes DJ, Amartino H, Smith N, Folloni Fernandes J, Sevin C, Sankar R, Hussain SA, Gissen P, Dalle JH, Platzbecker U, Downey GF, McNeil E, Demopoulos L, Dietz AC, Thakar HL, Orchard PJ, Williams DA
N Engl J Med 2024 Oct 10;391(14):1302-1312. doi: 10.1056/NEJMoa2400442. PMID: 39383459
Mabondzo A, van de Kamp J, Mercimek-Andrews S
Cell Mol Life Sci 2024 Apr 17;81(1):186. doi: 10.1007/s00018-024-05218-y. PMID: 38632116Free PMC Article
Zhai Y, Miao J, Peng Y, Wang Y, Dong J, Zhao X
Trends Cardiovasc Med 2023 Feb;33(2):81-89. Epub 2021 Nov 2 doi: 10.1016/j.tcm.2021.10.012. PMID: 34737089
Ahmed MA, Kartha RV, Brundage RC, Cloyd J, Basu C, Carlin BP, Jones RO, Moser AB, Fatemi A, Raymond GV
Br J Clin Pharmacol 2016 Jun;81(6):1058-66. Epub 2016 Apr 3 doi: 10.1111/bcp.12897. PMID: 26836218Free PMC Article
Renieri A, Meloni I, Longo I, Ariani F, Mari F, Pescucci C, Cambi F
J Mol Med (Berl) 2003 Jun;81(6):346-54. Epub 2003 May 16 doi: 10.1007/s00109-003-0444-9. PMID: 12750821

Prognosis

Eichler F, Duncan CN, Musolino PL, Lund TC, Gupta AO, De Oliveira S, Thrasher AJ, Aubourg P, Kühl JS, Loes DJ, Amartino H, Smith N, Folloni Fernandes J, Sevin C, Sankar R, Hussain SA, Gissen P, Dalle JH, Platzbecker U, Downey GF, McNeil E, Demopoulos L, Dietz AC, Thakar HL, Orchard PJ, Williams DA
N Engl J Med 2024 Oct 10;391(14):1302-1312. doi: 10.1056/NEJMoa2400442. PMID: 39383459
Nakamura A, Matsumura T, Ogata K, Mori-Yoshimura M, Takeshita E, Kimura K, Kawashima T, Tomo Y, Arahata H, Miyazaki D, Takeshima Y, Takahashi T, Ishigaki K, Kuru S, Wakisaka A, Awano H, Funato M, Sato T, Saito Y, Takada H, Sugie K, Kobayashi M, Ozasa S, Fujii T, Maegaki Y, Oi H, Tachimori H, Komaki H
Ann Clin Transl Neurol 2023 Dec;10(12):2360-2372. Epub 2023 Oct 26 doi: 10.1002/acn3.51925. PMID: 37882106Free PMC Article
Kumar A, Kumar V, Arora M, Kumar M, Ammalli P, Thakur B, Prasad J, Kumari S, Sharma MC, Kale SS, Chauhan SS
Biosci Rep 2022 Apr 29;42(4) doi: 10.1042/BSR20212685. PMID: 35297481Free PMC Article
Lin L, Zhang Y, Pan H, Wang J, Qi Y, Ma Y
Orphanet J Rare Dis 2020 Nov 11;15(1):317. doi: 10.1186/s13023-020-01599-y. PMID: 33176815Free PMC Article
Shimozawa N, Honda A, Kajiwara N, Kozawa S, Nagase T, Takemoto Y, Suzuki Y
J Hum Genet 2011 Feb;56(2):106-9. Epub 2010 Nov 11 doi: 10.1038/jhg.2010.139. PMID: 21068741

Clinical prediction guides

Eichler F, Duncan CN, Musolino PL, Lund TC, Gupta AO, De Oliveira S, Thrasher AJ, Aubourg P, Kühl JS, Loes DJ, Amartino H, Smith N, Folloni Fernandes J, Sevin C, Sankar R, Hussain SA, Gissen P, Dalle JH, Platzbecker U, Downey GF, McNeil E, Demopoulos L, Dietz AC, Thakar HL, Orchard PJ, Williams DA
N Engl J Med 2024 Oct 10;391(14):1302-1312. doi: 10.1056/NEJMoa2400442. PMID: 39383459
Nakamura A, Matsumura T, Ogata K, Mori-Yoshimura M, Takeshita E, Kimura K, Kawashima T, Tomo Y, Arahata H, Miyazaki D, Takeshima Y, Takahashi T, Ishigaki K, Kuru S, Wakisaka A, Awano H, Funato M, Sato T, Saito Y, Takada H, Sugie K, Kobayashi M, Ozasa S, Fujii T, Maegaki Y, Oi H, Tachimori H, Komaki H
Ann Clin Transl Neurol 2023 Dec;10(12):2360-2372. Epub 2023 Oct 26 doi: 10.1002/acn3.51925. PMID: 37882106Free PMC Article
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
Rasheed M, Khan V, Harripaul R, Siddiqui M, Malik MA, Ullah Z, Zahid M, Vincent JB, Ansar M
BMC Med Genomics 2021 Aug 27;14(1):211. doi: 10.1186/s12920-021-01066-y. PMID: 34452636Free PMC Article
Filosa S, Pecorelli A, D'Esposito M, Valacchi G, Hajek J
Free Radic Biol Med 2015 Nov;88(Pt A):81-90. Epub 2015 May 8 doi: 10.1016/j.freeradbiomed.2015.04.019. PMID: 25960047

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