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Intellectual disability, X-linked 46(XLID46)

MedGen UID:
337255
Concept ID:
C1845526
Mental or Behavioral Dysfunction
Synonym: XLID46
 
Monarch Initiative: MONDO:0010326
OMIM®: 300436

Definition

Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the ARHGEF6 gene. [from MONDO]

Clinical features

From HPO
Sensorineural hearing loss disorder
MedGen UID:
9164
Concept ID:
C0018784
Disease or Syndrome
A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve.
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

Pierpont EI, Isaia AR, McCoy E, Brown SJ, Gupta AO, Eisengart JB
J Inherit Metab Dis 2023 Mar;46(2):174-193. Epub 2022 Dec 26 doi: 10.1002/jimd.12581. PMID: 36527290Free PMC Article
Albersen M, van der Beek SL, Dijkstra IME, Alders M, Barendsen RW, Bliek J, Boelen A, Ebberink MS, Ferdinandusse S, Goorden SMI, Heijboer AC, Jansen M, Jaspers YRJ, Metgod I, Salomons GS, Vaz FM, Verschoof-Puite RK, Visser WF, Dekkers E, Engelen M, Kemp S
J Inherit Metab Dis 2023 Jan;46(1):116-128. Epub 2022 Oct 26 doi: 10.1002/jimd.12571. PMID: 36256460Free PMC Article
Watkins PA, Naidu S, Moser HW
J Inherit Metab Dis 1987;10 Suppl 1:46-53. doi: 10.1007/BF01812846. PMID: 3119941

Recent clinical studies

Therapy

van Geest FS, Groeneweg S, van den Akker ELT, Bacos I, Barca D, van den Berg SAA, Bertini E, Brunner D, Brunetti-Pierri N, Cappa M, Cappuccio G, Chatterjee K, Chesover AD, Christian P, Coutant R, Craiu D, Crock P, Dewey C, Dica A, Dimitri P, Dubey R, Enderli A, Fairchild J, Gallichan J, Garibaldi LR, George B, Hackenberg A, Heinrich B, Huynh T, Kłosowska A, Lawson-Yuen A, Linder-Lucht M, Lyons G, Monti Lora F, Moran C, Müller KE, Paone L, Paul PG, Polak M, Porta F, Reinauer C, de Rijke YB, Seckold R, Menevşe TS, Simm P, Simon A, Spada M, Stoupa A, Szeifert L, Tonduti D, van Toor H, Turan S, Vanderniet J, de Waart M, van der Wal R, van der Walt A, van Wermeskerken AM, Wierzba J, Zibordi F, Zung A, Peeters RP, Visser WE
J Clin Endocrinol Metab 2022 Feb 17;107(3):e1136-e1147. doi: 10.1210/clinem/dgab750. PMID: 34679181Free PMC Article
Semyachkina AN, Voskoboeva EY, Zakharova EY, Nikolaeva EA, Kanivets IV, Kolotii AD, Baydakova GV, Kharabadze MN, Kuramagomedova RG, Melnikova NV
BMC Med Genet 2019 May 2;20(1):66. doi: 10.1186/s12881-019-0807-x. PMID: 31046699Free PMC Article
van de Kamp JM, Pouwels PJ, Aarsen FK, ten Hoopen LW, Knol DL, de Klerk JB, de Coo IF, Huijmans JG, Jakobs C, van der Knaap MS, Salomons GS, Mancini GM
J Inherit Metab Dis 2012 Jan;35(1):141-9. Epub 2011 May 10 doi: 10.1007/s10545-011-9345-1. PMID: 21556832Free PMC Article
Kaler SG, Liew CJ, Donsante A, Hicks JD, Sato S, Greenfield JC
J Inherit Metab Dis 2010 Oct;33(5):583-9. Epub 2010 Jul 21 doi: 10.1007/s10545-010-9118-2. PMID: 20652413Free PMC Article
Watkins PA, Naidu S, Moser HW
J Inherit Metab Dis 1987;10 Suppl 1:46-53. doi: 10.1007/BF01812846. PMID: 3119941

Prognosis

Jiang W, Jin W, Zhao H, Huang D, Wu L
Acta Neurol Belg 2023 Dec;123(6):2259-2268. Epub 2023 May 29 doi: 10.1007/s13760-023-02295-x. PMID: 37247117
De Feyter S, Beyens A, Callewaert B
J Inherit Metab Dis 2023 Mar;46(2):163-173. Epub 2023 Feb 3 doi: 10.1002/jimd.12590. PMID: 36692329
Pierpont EI, Isaia AR, McCoy E, Brown SJ, Gupta AO, Eisengart JB
J Inherit Metab Dis 2023 Mar;46(2):174-193. Epub 2022 Dec 26 doi: 10.1002/jimd.12581. PMID: 36527290Free PMC Article
van Geest FS, Groeneweg S, van den Akker ELT, Bacos I, Barca D, van den Berg SAA, Bertini E, Brunner D, Brunetti-Pierri N, Cappa M, Cappuccio G, Chatterjee K, Chesover AD, Christian P, Coutant R, Craiu D, Crock P, Dewey C, Dica A, Dimitri P, Dubey R, Enderli A, Fairchild J, Gallichan J, Garibaldi LR, George B, Hackenberg A, Heinrich B, Huynh T, Kłosowska A, Lawson-Yuen A, Linder-Lucht M, Lyons G, Monti Lora F, Moran C, Müller KE, Paone L, Paul PG, Polak M, Porta F, Reinauer C, de Rijke YB, Seckold R, Menevşe TS, Simm P, Simon A, Spada M, Stoupa A, Szeifert L, Tonduti D, van Toor H, Turan S, Vanderniet J, de Waart M, van der Wal R, van der Walt A, van Wermeskerken AM, Wierzba J, Zibordi F, Zung A, Peeters RP, Visser WE
J Clin Endocrinol Metab 2022 Feb 17;107(3):e1136-e1147. doi: 10.1210/clinem/dgab750. PMID: 34679181Free PMC Article
Cenacchi G, Papa V, Pegoraro V, Marozzo R, Fanin M, Angelini C
Neuropathol Appl Neurobiol 2020 Jun;46(4):303-322. Epub 2019 Nov 25 doi: 10.1111/nan.12587. PMID: 31698507

Clinical prediction guides

Jiang W, Jin W, Zhao H, Huang D, Wu L
Acta Neurol Belg 2023 Dec;123(6):2259-2268. Epub 2023 May 29 doi: 10.1007/s13760-023-02295-x. PMID: 37247117
De Feyter S, Beyens A, Callewaert B
J Inherit Metab Dis 2023 Mar;46(2):163-173. Epub 2023 Feb 3 doi: 10.1002/jimd.12590. PMID: 36692329
Pierpont EI, Isaia AR, McCoy E, Brown SJ, Gupta AO, Eisengart JB
J Inherit Metab Dis 2023 Mar;46(2):174-193. Epub 2022 Dec 26 doi: 10.1002/jimd.12581. PMID: 36527290Free PMC Article
Iskandar K, Triono A, Sunartini, Dwianingsih EK, Indraswari BW, Kirana IR, Ivana G, Sutomo R, Patria SY, Herini ES, Gunadi
PLoS One 2022;17(10):e0276640. Epub 2022 Oct 31 doi: 10.1371/journal.pone.0276640. PMID: 36315559Free PMC Article
Mansour L, El Sobky E, Mohamed SM, Marzouk H, Tarek LA
J Egypt Public Health Assoc 2015 Sep;90(3):133-7. doi: 10.1097/01.EPX.0000469901.73624.7a. PMID: 26544843

Recent systematic reviews

De Feyter S, Beyens A, Callewaert B
J Inherit Metab Dis 2023 Mar;46(2):163-173. Epub 2023 Feb 3 doi: 10.1002/jimd.12590. PMID: 36692329

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