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Intellectual disability, autosomal recessive 59(MRT59)

MedGen UID:
934586
Concept ID:
C4310619
Mental or Behavioral Dysfunction
Synonym: MRT59
 
Gene (location): IMPA1 (8q21.13)
 
Monarch Initiative: MONDO:0015020
OMIM®: 617323

Definition

Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the IMPA1 gene. [from MONDO]

Clinical features

From HPO
Aggressive behavior
MedGen UID:
1375
Concept ID:
C0001807
Individual Behavior
Behavior or an act aimed at harming a person, animal, or physical property (e.g., acts of physical violence; shouting, swearing, and using harsh language; slashing someone's tires).
Paranoia
MedGen UID:
306130
Concept ID:
C1456784
Mental or Behavioral Dysfunction
The feeling and belief that one is being targeted or is a focus of negative or untoward actions, overt or covert, from others. The affected individual expresses a concern that people are in general against the individual and are engaging in subtle behaviors to make things difficult for them. The origins of such thinking may arise from real events and become amplified over time. Paranoia may also arise in the absence of any action or interaction between the person and their environment.
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.

Recent clinical studies

Etiology

Taşkıran EZ, Karaosmanoğlu B, Koşukcu C, Ürel-Demir G, Akgün-Doğan Ö, Şimşek-Kiper PÖ, Alikaşifoğlu M, Boduroğlu K, Utine GE
J Intellect Disabil Res 2021 Jun;65(6):577-588. Epub 2021 Mar 19 doi: 10.1111/jir.12835. PMID: 33739554
Ilyas M, Efthymiou S, Salpietro V, Noureen N, Zafar F, Rauf S, Mir A, Houlden H
BMC Med Genet 2020 Mar 24;21(1):59. doi: 10.1186/s12881-020-00998-z. PMID: 32209057Free PMC Article
Mutlu-Albayrak H, Kırat E, Gürbüz G
Neurogenetics 2020 Jan;21(1):59-66. Epub 2019 Nov 19 doi: 10.1007/s10048-019-00597-y. PMID: 31741144
Warner LL, Olsen DA, Smith HM
Paediatr Anaesth 2018 Jan;28(1):59-62. Epub 2017 Nov 17 doi: 10.1111/pan.13283. PMID: 29148179
Klebe S, Stevanin G, Depienne C
Rev Neurol (Paris) 2015 Jun-Jul;171(6-7):505-30. Epub 2015 May 23 doi: 10.1016/j.neurol.2015.02.017. PMID: 26008818

Diagnosis

Taşkıran EZ, Karaosmanoğlu B, Koşukcu C, Ürel-Demir G, Akgün-Doğan Ö, Şimşek-Kiper PÖ, Alikaşifoğlu M, Boduroğlu K, Utine GE
J Intellect Disabil Res 2021 Jun;65(6):577-588. Epub 2021 Mar 19 doi: 10.1111/jir.12835. PMID: 33739554
Warner LL, Olsen DA, Smith HM
Paediatr Anaesth 2018 Jan;28(1):59-62. Epub 2017 Nov 17 doi: 10.1111/pan.13283. PMID: 29148179
van Karnebeek CD, Tiebout SA, Niermeijer J, Poll-The BT, Ghani A, Coughlin CR 2nd, Van Hove JL, Richter JW, Christen HJ, Gallagher R, Hartmann H, Stockler-Ipsiroglu S
Pediatr Neurol 2016 Jun;59:6-12. Epub 2016 Jan 11 doi: 10.1016/j.pediatrneurol.2015.12.013. PMID: 26995068
Klebe S, Stevanin G, Depienne C
Rev Neurol (Paris) 2015 Jun-Jul;171(6-7):505-30. Epub 2015 May 23 doi: 10.1016/j.neurol.2015.02.017. PMID: 26008818
Simell O, Perheentupa J, Rapola J, Visakorpi JK, Eskelin LE
Am J Med 1975 Aug;59(2):229-40. doi: 10.1016/0002-9343(75)90358-7. PMID: 1155480

Therapy

Su T, Yan Y, Xu S, Zhang K, Xu S
Int J Dev Neurosci 2020 Apr;80(2):157-161. Epub 2020 Feb 25 doi: 10.1002/jdn.10013. PMID: 32037574
Simell O, Perheentupa J, Rapola J, Visakorpi JK, Eskelin LE
Am J Med 1975 Aug;59(2):229-40. doi: 10.1016/0002-9343(75)90358-7. PMID: 1155480

Prognosis

Vogt G, Verheyen S, Schwartzmann S, Ehmke N, Potratz C, Schwerin-Nagel A, Plecko B, Holtgrewe M, Seelow D, Blatterer J, Speicher MR, Kornak U, Horn D, Mundlos S, Fischer-Zirnsak B, Boschann F
J Med Genet 2022 Jul;59(7):662-668. Epub 2021 Jun 18 doi: 10.1136/jmedgenet-2021-107843. PMID: 34379057Free PMC Article
Su T, Yan Y, Xu S, Zhang K, Xu S
Int J Dev Neurosci 2020 Apr;80(2):157-161. Epub 2020 Feb 25 doi: 10.1002/jdn.10013. PMID: 32037574

Clinical prediction guides

Yang Q, Qin Z, Zhang Q, Yi S, Yi S, Luo J
BMC Med Genomics 2022 Mar 23;15(1):67. doi: 10.1186/s12920-022-01217-9. PMID: 35321723Free PMC Article
Vogt G, Verheyen S, Schwartzmann S, Ehmke N, Potratz C, Schwerin-Nagel A, Plecko B, Holtgrewe M, Seelow D, Blatterer J, Speicher MR, Kornak U, Horn D, Mundlos S, Fischer-Zirnsak B, Boschann F
J Med Genet 2022 Jul;59(7):662-668. Epub 2021 Jun 18 doi: 10.1136/jmedgenet-2021-107843. PMID: 34379057Free PMC Article
Karacan İ, Diz Küçükkaya R, Karakuş FN, Solakoğlu S, Tolun A, Hançer VS, Turanlı ET
Turk J Haematol 2019 Feb 7;36(1):29-36. Epub 2018 Nov 26 doi: 10.4274/tjh.galenos.2018.2018.0325. PMID: 30474613Free PMC Article
Warner LL, Olsen DA, Smith HM
Paediatr Anaesth 2018 Jan;28(1):59-62. Epub 2017 Nov 17 doi: 10.1111/pan.13283. PMID: 29148179
Noor A, Windpassinger C, Patel M, Stachowiak B, Mikhailov A, Azam M, Irfan M, Siddiqui ZK, Naeem F, Paterson AD, Lutfullah M, Vincent JB, Ayub M
Am J Hum Genet 2008 Apr;82(4):1011-8. doi: 10.1016/j.ajhg.2008.01.021. PMID: 18387594Free PMC Article

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