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Intellectual developmental disorder, X-linked 110(XLID110)

MedGen UID:
1823954
•Concept ID:
C5774180
•
Mental or Behavioral Dysfunction
Synonym: XLID110
 
Gene (location): FGF13 (Xq26.3-27.1)
 
Monarch Initiative: MONDO:0859086
OMIM®: 301095

Definition

X-linked intellectual developmental disorder-110 (XLID110) is characterized by moderately to severely impaired intellectual development. [from OMIM]

Clinical features

From HPO
Episodic vomiting
MedGen UID:
333228
•Concept ID:
C1838993
•
Finding
Paroxysmal, recurrent episodes of vomiting.
See: Feature record | Search on this feature
Intellectual disability, severe
MedGen UID:
48638
•Concept ID:
C0036857
•
Mental or Behavioral Dysfunction
Severe mental retardation is defined as an intelligence quotient (IQ) in the range of 20-34.
See: Feature record | Search on this feature
Bradykinesia
MedGen UID:
115925
•Concept ID:
C0233565
•
Sign or Symptom
Bradykinesia literally means slow movement, and is used clinically to denote a slowness in the execution of movement (in contrast to hypokinesia, which is used to refer to slowness in the initiation of movement).
See: Feature record | Search on this feature
Absent speech
MedGen UID:
340737
•Concept ID:
C1854882
•
Finding
Complete lack of development of speech and language abilities.
See: Feature record | Search on this feature
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Professional guidelines

PubMed

FMR1 and the continuum of primary ovarian insufficiency.
Sullivan SD, Welt C, Sherman S
Semin Reprod Med 2011 Jul;29(4):299-307. Epub 2011 Oct 3 doi: 10.1055/s-0031-1280915. PMID: 21969264
Treatment of epilepsy in Rett syndrome.
Huppke P, Köhler K, Brockmann K, Stettner GM, Gärtner J
Eur J Paediatr Neurol 2007 Jan;11(1):10-6. Epub 2006 Dec 18 doi: 10.1016/j.ejpn.2006.09.003. PMID: 17178248

Recent clinical studies

Etiology

Effects of AFQ056 on language learning in fragile X syndrome.
Berry-Kravis E, Abbeduto L, Hagerman R, Coffey CS, Cudkowicz M, Erickson CA, McDuffie A, Hessl D, Ethridge L, Tassone F, Kaufmann WE, Friedmann K, Bullard L, Hoffmann A, Veenstra-VanderWeele J, Staley K, Klements D, Moshinsky M, Harkey B, Long J, Fedler J, Klingner E, Ecklund D, Costigan M, Huff T, Pearson B; NeuroNEXT FXLEARN Investigators
J Clin Invest 2023 Aug 31;134(5) doi: 10.1172/JCI171723. PMID: 37651202Free PMC Article
A Systematic Review of Fragile X-Associated Neuropsychiatric Disorders.
Flavell J, Franklin C, Nestor PJ
J Neuropsychiatry Clin Neurosci 2023 Spring;35(2):110-120. Epub 2022 Sep 29 doi: 10.1176/appi.neuropsych.21110282. PMID: 36172690
Oral parafunction and bruxism in Rett syndrome and associated factors: An observational study.
Lai YYL, Downs JA, Wong K, Zafar S, Walsh LJ, Leonard HM
Oral Dis 2023 Jan;29(1):220-231. Epub 2021 Jun 27 doi: 10.1111/odi.13924. PMID: 34033206
Prognostic Significance of Altered ATRX/DAXX Gene in Pancreatic Neuroendocrine Tumors: A Meta-Analysis.
Wang F, Xu X, Ye Z, Qin Y, Yu X, Ji S
Front Endocrinol (Lausanne) 2021;12:691557. Epub 2021 Jun 18 doi: 10.3389/fendo.2021.691557. PMID: 34220718Free PMC Article
Skewed X-chromosome inactivation and shorter telomeres associate with idiopathic premature ovarian insufficiency.
Miranda-Furtado CL, Luchiari HR, Chielli Pedroso DC, Kogure GS, Caetano LC, Santana BA, Santana VP, Benetti-Pinto CL, Reis FM, Maciel MA, Ferriani RA, Ramos ES, Calado RT, Dos Reis RM
Fertil Steril 2018 Aug;110(3):476-485.e1. doi: 10.1016/j.fertnstert.2018.04.017. PMID: 30098699

Diagnosis

Glioblastomas with and without peritumoral fluid-attenuated inversion recovery (FLAIR) hyperintensity present morphological and microstructural differences on conventional MR images.
Han Q, Lu Y, Wang D, Li X, Ruan Z, Mei N, Ji X, Geng D, Yin B
Eur Radiol 2023 Dec;33(12):9139-9151. Epub 2023 Jul 27 doi: 10.1007/s00330-023-09924-2. PMID: 37495706
A Systematic Review of Fragile X-Associated Neuropsychiatric Disorders.
Flavell J, Franklin C, Nestor PJ
J Neuropsychiatry Clin Neurosci 2023 Spring;35(2):110-120. Epub 2022 Sep 29 doi: 10.1176/appi.neuropsych.21110282. PMID: 36172690
Skewed X-chromosome inactivation and shorter telomeres associate with idiopathic premature ovarian insufficiency.
Miranda-Furtado CL, Luchiari HR, Chielli Pedroso DC, Kogure GS, Caetano LC, Santana BA, Santana VP, Benetti-Pinto CL, Reis FM, Maciel MA, Ferriani RA, Ramos ES, Calado RT, Dos Reis RM
Fertil Steril 2018 Aug;110(3):476-485.e1. doi: 10.1016/j.fertnstert.2018.04.017. PMID: 30098699
Childhood cerebral adrenoleukodystrophy.
Mittal A, Aggarwal KC
Indian J Med Res 2014 Aug;140(2):319-20. PMID: 25297370Free PMC Article
Rett Syndrome -- an update.
Jellinger KA
J Neural Transm (Vienna) 2003 Jun;110(6):681-701. doi: 10.1007/s00702-003-0822-z. PMID: 12768363

Therapy

Effects of AFQ056 on language learning in fragile X syndrome.
Berry-Kravis E, Abbeduto L, Hagerman R, Coffey CS, Cudkowicz M, Erickson CA, McDuffie A, Hessl D, Ethridge L, Tassone F, Kaufmann WE, Friedmann K, Bullard L, Hoffmann A, Veenstra-VanderWeele J, Staley K, Klements D, Moshinsky M, Harkey B, Long J, Fedler J, Klingner E, Ecklund D, Costigan M, Huff T, Pearson B; NeuroNEXT FXLEARN Investigators
J Clin Invest 2023 Aug 31;134(5) doi: 10.1172/JCI171723. PMID: 37651202Free PMC Article
The safety and efficacy of metformin in fragile X syndrome: An open-label study.
Proteau-Lemieux M, Lacroix A, Galarneau L, Corbin F, Lepage JF, Çaku A
Prog Neuropsychopharmacol Biol Psychiatry 2021 Aug 30;110:110307. Epub 2021 Mar 20 doi: 10.1016/j.pnpbp.2021.110307. PMID: 33757860
A Double-Blind, Randomized, Placebo-Controlled Clinical Study of Trofinetide in the Treatment of Fragile X Syndrome.
Berry-Kravis E, Horrigan JP, Tartaglia N, Hagerman R, Kolevzon A, Erickson CA, Hatti S, Snape M, Yaroshinsky A, Stoms G; FXS-001 Investigators, Glass L, Jones NE
Pediatr Neurol 2020 Sep;110:30-41. Epub 2020 May 23 doi: 10.1016/j.pediatrneurol.2020.04.019. PMID: 32660869
Childhood cerebral adrenoleukodystrophy.
Mittal A, Aggarwal KC
Indian J Med Res 2014 Aug;140(2):319-20. PMID: 25297370Free PMC Article
The marker (X) syndrome: a cytogenetic and genetic analysis.
Sherman SL, Morton NE, Jacobs PA, Turner G
Ann Hum Genet 1984 Jan;48(1):21-37. doi: 10.1111/j.1469-1809.1984.tb00830.x. PMID: 6712153

Prognosis

Health Effects of Sleep Quality in Premutation Carrier Mothers of Individuals With Fragile X Syndrome.
Dembo RS, Hong J, DaWalt LS, Berry-Kravis EM, Mailick MR
Am J Intellect Dev Disabil 2023 May 1;128(3):254-268. doi: 10.1352/1944-7558-128.3.254. PMID: 37104861Free PMC Article
Revisiting vimentin: a negative surrogate marker of molecularly defined oligodendroglioma in adult type diffuse glioma.
Kim SI, Lee K, Bae J, Lee S, Yun H, Park CK, Choi SH, Maquiling CA, Park SH, Won JK
Brain Tumor Pathol 2021 Oct;38(4):271-282. Epub 2021 Aug 2 doi: 10.1007/s10014-021-00411-4. PMID: 34338912
Prognostic Significance of Altered ATRX/DAXX Gene in Pancreatic Neuroendocrine Tumors: A Meta-Analysis.
Wang F, Xu X, Ye Z, Qin Y, Yu X, Ji S
Front Endocrinol (Lausanne) 2021;12:691557. Epub 2021 Jun 18 doi: 10.3389/fendo.2021.691557. PMID: 34220718Free PMC Article
Fasciculoventricular and atrioventricular accessory pathways in patients with Danon disease and preexcitation: A multicenter experience.
Darden D, Hsu JC, Tzou WS, von Alvensleben JC, Brooks M, Hoffmayer KS, Brambatti M, Sauer WH, Feld GK, Adler E
Heart Rhythm 2021 Jul;18(7):1194-1202. Epub 2021 Mar 16 doi: 10.1016/j.hrthm.2021.03.024. PMID: 33737230
The frequency and prognostic effect of TERT promoter mutation in diffuse gliomas.
Lee Y, Koh J, Kim SI, Won JK, Park CK, Choi SH, Park SH
Acta Neuropathol Commun 2017 Aug 29;5(1):62. doi: 10.1186/s40478-017-0465-1. PMID: 28851427Free PMC Article

Clinical prediction guides

Effects of AFQ056 on language learning in fragile X syndrome.
Berry-Kravis E, Abbeduto L, Hagerman R, Coffey CS, Cudkowicz M, Erickson CA, McDuffie A, Hessl D, Ethridge L, Tassone F, Kaufmann WE, Friedmann K, Bullard L, Hoffmann A, Veenstra-VanderWeele J, Staley K, Klements D, Moshinsky M, Harkey B, Long J, Fedler J, Klingner E, Ecklund D, Costigan M, Huff T, Pearson B; NeuroNEXT FXLEARN Investigators
J Clin Invest 2023 Aug 31;134(5) doi: 10.1172/JCI171723. PMID: 37651202Free PMC Article
Oral parafunction and bruxism in Rett syndrome and associated factors: An observational study.
Lai YYL, Downs JA, Wong K, Zafar S, Walsh LJ, Leonard HM
Oral Dis 2023 Jan;29(1):220-231. Epub 2021 Jun 27 doi: 10.1111/odi.13924. PMID: 34033206
The safety and efficacy of metformin in fragile X syndrome: An open-label study.
Proteau-Lemieux M, Lacroix A, Galarneau L, Corbin F, Lepage JF, Çaku A
Prog Neuropsychopharmacol Biol Psychiatry 2021 Aug 30;110:110307. Epub 2021 Mar 20 doi: 10.1016/j.pnpbp.2021.110307. PMID: 33757860
A Double-Blind, Randomized, Placebo-Controlled Clinical Study of Trofinetide in the Treatment of Fragile X Syndrome.
Berry-Kravis E, Horrigan JP, Tartaglia N, Hagerman R, Kolevzon A, Erickson CA, Hatti S, Snape M, Yaroshinsky A, Stoms G; FXS-001 Investigators, Glass L, Jones NE
Pediatr Neurol 2020 Sep;110:30-41. Epub 2020 May 23 doi: 10.1016/j.pediatrneurol.2020.04.019. PMID: 32660869
Skewed X-chromosome inactivation and shorter telomeres associate with idiopathic premature ovarian insufficiency.
Miranda-Furtado CL, Luchiari HR, Chielli Pedroso DC, Kogure GS, Caetano LC, Santana BA, Santana VP, Benetti-Pinto CL, Reis FM, Maciel MA, Ferriani RA, Ramos ES, Calado RT, Dos Reis RM
Fertil Steril 2018 Aug;110(3):476-485.e1. doi: 10.1016/j.fertnstert.2018.04.017. PMID: 30098699

Recent systematic reviews

A Systematic Review of Fragile X-Associated Neuropsychiatric Disorders.
Flavell J, Franklin C, Nestor PJ
J Neuropsychiatry Clin Neurosci 2023 Spring;35(2):110-120. Epub 2022 Sep 29 doi: 10.1176/appi.neuropsych.21110282. PMID: 36172690
Prognostic Significance of Altered ATRX/DAXX Gene in Pancreatic Neuroendocrine Tumors: A Meta-Analysis.
Wang F, Xu X, Ye Z, Qin Y, Yu X, Ji S
Front Endocrinol (Lausanne) 2021;12:691557. Epub 2021 Jun 18 doi: 10.3389/fendo.2021.691557. PMID: 34220718Free PMC Article

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