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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.
See: Feature record | Search on this feature

Professional guidelines

PubMed

Whole Exome Sequencing as a First-Line Molecular Genetic Test in Developmental and Epileptic Encephalopathies.
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
Clinical and genetic characteristics and prenatal diagnosis of patients presented GDD/ID with rare monogenic causes.
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
X-linked adrenoleukodystrophy: diagnostic and follow-up system in Japan.
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

Lentiviral Gene Therapy for Cerebral Adrenoleukodystrophy.
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
Natural history of Becker muscular dystrophy: a multicenter study of 225 patients.
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
Clinical genomics expands the morbid genome of intellectual disability and offers a high diagnostic yield.
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
Complex single gene disorders and epilepsy.
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
Fragile X and X-linked intellectual disability: four decades of discovery.
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

Lentiviral Gene Therapy for Cerebral Adrenoleukodystrophy.
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
Landscape of genetic infantile epileptic spasms syndrome-A multicenter cohort of 124 children from India.
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
Clinical genomics expands the morbid genome of intellectual disability and offers a high diagnostic yield.
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
Fragile X and X-linked intellectual disability: four decades of discovery.
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
X-linked adrenoleukodystrophy: diagnostic and follow-up system in Japan.
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

Lentiviral Gene Therapy for Cerebral Adrenoleukodystrophy.
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
Dodecyl creatine ester therapy: from promise to reality.
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
Clinical features of Danon disease and insights gained from LAMP-2 deficiency models.
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
A model-based approach to assess the exposure-response relationship of Lorenzo's oil in adrenoleukodystrophy.
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
Rett syndrome: the complex nature of a monogenic disease.
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

Lentiviral Gene Therapy for Cerebral Adrenoleukodystrophy.
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
Natural history of Becker muscular dystrophy: a multicenter study of 225 patients.
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
Overexpression of prothymosin-α in glioma is associated with tumor aggressiveness and poor prognosis.
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
Clinical and genetic characteristics and prenatal diagnosis of patients presented GDD/ID with rare monogenic causes.
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
X-linked adrenoleukodystrophy: diagnostic and follow-up system in Japan.
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

Lentiviral Gene Therapy for Cerebral Adrenoleukodystrophy.
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
Natural history of Becker muscular dystrophy: a multicenter study of 225 patients.
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
Landscape of genetic infantile epileptic spasms syndrome-A multicenter cohort of 124 children from India.
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
Exome sequencing identifies novel and known mutations in families with intellectual disability.
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
Exploring the possible link between MeCP2 and oxidative stress in Rett syndrome.
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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