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Intellectual disability, X-linked 63(XLID63)

MedGen UID:
337002
Concept ID:
C1845672
Mental or Behavioral Dysfunction
Synonyms: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 63; MENTAL RETARDATION, X-LINKED 68; XLID63
 
Gene (location): ACSL4 (Xq23)
 
Monarch Initiative: MONDO:0010313
OMIM®: 300387

Definition

Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the ACSL4 gene. [from MONDO]

Clinical features

From HPO
Anxiety
MedGen UID:
1613
Concept ID:
C0003467
Finding
Intense feelings of nervousness, tension, or panic often arise in response to interpersonal stresses. There is worry about the negative effects of past unpleasant experiences and future negative possibilities. Individuals may feel fearful, apprehensive, or threatened by uncertainty, and they may also have fears of falling apart or losing control.
Hyperreflexia
MedGen UID:
57738
Concept ID:
C0151889
Finding
Hyperreflexia is the presence of hyperactive stretch reflexes of the muscles.
Delayed speech and language development
MedGen UID:
105318
Concept ID:
C0454644
Finding
A degree of language development that is significantly below the norm for a child of a specified age.
Autistic behavior
MedGen UID:
163547
Concept ID:
C0856975
Mental or Behavioral Dysfunction
Persistent deficits in social interaction and communication and interaction as well as a markedly restricted repertoire of activity and interest as well as repetitive patterns of behavior.
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.
Hypotonia
MedGen UID:
10133
Concept ID:
C0026827
Finding
Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist.
Microcephaly
MedGen UID:
1644158
Concept ID:
C4551563
Finding
Head circumference below 2 standard deviations below the mean for age and gender.

Professional guidelines

PubMed

Tang C, Tang F, Cai Y, Tan M, Liu S, Xie T, Jiang X, Huang Y
Clin Chim Acta 2024 Jan 1;552:117653. Epub 2023 Nov 15 doi: 10.1016/j.cca.2023.117653. PMID: 37977233
Agrawal N, Verma G, Saxena D, Kabra M, Gupta N, Mandal K, Moirangthem A, Sheth J, Puri RD, Bijarnia-Mahay S, Kapoor S, Danda S, H SV, Datar CA, Ranganath P, Shukla A, Dalal A, Srivastava P, Devi RR, Phadke SR
Eur J Med Genet 2022 Mar;65(3):104447. Epub 2022 Feb 8 doi: 10.1016/j.ejmg.2022.104447. PMID: 35144014
Zarate YA, Dwivedi A, Bartel FO, Bellomo MA, Cathey SS, Champaigne NL, Clarkson LK, Dupont BR, Everman DB, Geer JS, Gordon BC, Lichty AW, Lyons MJ, Rogers RC, Saul RA, Schroer RJ, Skinner SA, Stevenson RE
Am J Med Genet A 2013 Jan;161A(1):120-30. Epub 2012 Dec 3 doi: 10.1002/ajmg.a.35698. PMID: 23208842

Recent clinical studies

Etiology

Hong KN, Battikha C, John S, Lin A, Bui QM, Brambatti M, Storm G, Boynton K, Medina-Hernandez D, Garcia-Alvarez A, Castel MA, Garcia-Guereta L, Diez Lopez C, Perez-Gomez L, Miani D, Symanski JD, Taylor MR, Garcia-Pavia P, Adler ED
J Card Fail 2022 Apr;28(4):664-669. Epub 2021 Nov 11 doi: 10.1016/j.cardfail.2021.11.007. PMID: 34775111
Zhang J, Ban T, Zhou L, Ji H, Yan H, Shi Z, Cao B, Jiang Y, Wang J, Wu Y
J Neurol 2020 Sep;267(9):2612-2618. Epub 2020 May 9 doi: 10.1007/s00415-020-09889-y. PMID: 32388833
Rose SA, Wass S, Jankowski JJ, Feldman JF, Djukic A
Neuropsychology 2019 Mar;33(3):335-342. Epub 2019 Jan 28 doi: 10.1037/neu0000515. PMID: 30688490
Engelen M, Barbier M, Dijkstra IM, Schür R, de Bie RM, Verhamme C, Dijkgraaf MG, Aubourg PA, Wanders RJ, van Geel BM, de Visser M, Poll-The BT, Kemp S
Brain 2014 Mar;137(Pt 3):693-706. Epub 2014 Jan 29 doi: 10.1093/brain/awt361. PMID: 24480483
Afroze B, Chaudhry B
J Pak Med Assoc 2013 Jan;63(1):106-10. PMID: 23865144

Diagnosis

Agrawal N, Verma G, Saxena D, Kabra M, Gupta N, Mandal K, Moirangthem A, Sheth J, Puri RD, Bijarnia-Mahay S, Kapoor S, Danda S, H SV, Datar CA, Ranganath P, Shukla A, Dalal A, Srivastava P, Devi RR, Phadke SR
Eur J Med Genet 2022 Mar;65(3):104447. Epub 2022 Feb 8 doi: 10.1016/j.ejmg.2022.104447. PMID: 35144014
Hong KN, Battikha C, John S, Lin A, Bui QM, Brambatti M, Storm G, Boynton K, Medina-Hernandez D, Garcia-Alvarez A, Castel MA, Garcia-Guereta L, Diez Lopez C, Perez-Gomez L, Miani D, Symanski JD, Taylor MR, Garcia-Pavia P, Adler ED
J Card Fail 2022 Apr;28(4):664-669. Epub 2021 Nov 11 doi: 10.1016/j.cardfail.2021.11.007. PMID: 34775111
Zhang J, Ban T, Zhou L, Ji H, Yan H, Shi Z, Cao B, Jiang Y, Wang J, Wu Y
J Neurol 2020 Sep;267(9):2612-2618. Epub 2020 May 9 doi: 10.1007/s00415-020-09889-y. PMID: 32388833
Engelen M, Barbier M, Dijkstra IM, Schür R, de Bie RM, Verhamme C, Dijkgraaf MG, Aubourg PA, Wanders RJ, van Geel BM, de Visser M, Poll-The BT, Kemp S
Brain 2014 Mar;137(Pt 3):693-706. Epub 2014 Jan 29 doi: 10.1093/brain/awt361. PMID: 24480483
Boucek D, Jirikowic J, Taylor M
Genet Med 2011 Jun;13(6):563-8. doi: 10.1097/GIM.0b013e31820ad795. PMID: 21415759

Therapy

Pereira G, Dória S
J Genet 2021;100 PMID: 34553695
Beam D, Poe MD, Provenzale JM, Szabolcs P, Martin PL, Prasad V, Parikh S, Driscoll T, Mukundan S, Kurtzberg J, Escolar ML
Biol Blood Marrow Transplant 2007 Jun;13(6):665-74. Epub 2007 Apr 6 doi: 10.1016/j.bbmt.2007.01.082. PMID: 17531776
Wichers-Rother M, Grigull A, Sokolowski P, Stoffel-Wagner B, Köhler W
J Neurol 2005 Dec;252(12):1525-9. doi: 10.1007/s00415-005-0908-7. PMID: 16362829
Assies J, Haverkort EB, Lieverse R, Vreken P
Clin Endocrinol (Oxf) 2003 Oct;59(4):459-66. doi: 10.1046/j.1365-2265.2003.01868.x. PMID: 14510908
el-Deiry SS, Naidu S, Blevins LS, Ladenson PW
J Clin Endocrinol Metab 1997 Mar;82(3):856-60. doi: 10.1210/jcem.82.3.3802. PMID: 9062496

Prognosis

Li RK, Li H, Tian MQ, Li Y, Luo S, Liang XY, Liu WH, Li BM, Shi XQ, Li J, Li B, Shu XM; China Epilepsy Gene 1.0 Project
Seizure 2024 Mar;116:45-50. Epub 2023 Jun 10 doi: 10.1016/j.seizure.2023.05.014. PMID: 37330374
Agrawal N, Verma G, Saxena D, Kabra M, Gupta N, Mandal K, Moirangthem A, Sheth J, Puri RD, Bijarnia-Mahay S, Kapoor S, Danda S, H SV, Datar CA, Ranganath P, Shukla A, Dalal A, Srivastava P, Devi RR, Phadke SR
Eur J Med Genet 2022 Mar;65(3):104447. Epub 2022 Feb 8 doi: 10.1016/j.ejmg.2022.104447. PMID: 35144014
Steele JL, Morrow MM, Sarnat HB, Alkhunaizi E, Brandt T, Chitayat DA, DeFilippo CP, Douglas GV, Dubbs HA, Elloumi HZ, Glassford MR, Hannibal MC, Héron B, Kim LE, Marco EJ, Mignot C, Monaghan KG, Myers KA, Parikh S, Quinonez SC, Rajabi F, Shankar SP, Shinawi MS, van de Kamp JJP, Veerapandiyan A, Waldman AT, Graf WD
Pediatr Neurol 2022 Jan;126:65-73. Epub 2021 Oct 18 doi: 10.1016/j.pediatrneurol.2021.10.008. PMID: 34740135
Iijima M, Hirano D, Yokoi K, Kobayashi H, Fujiwara M, Ida H, Oishi K
Pediatr Int 2021 May;63(5):543-549. Epub 2021 Mar 16 doi: 10.1111/ped.14467. PMID: 32935418
de Beer M, Engelen M, van Geel BM
Neurology 2014 Dec 9;83(24):2227-31. Epub 2014 Nov 5 doi: 10.1212/WNL.0000000000001074. PMID: 25378668

Clinical prediction guides

Gras M, Heide S, Keren B, Valence S, Garel C, Whalen S, Jansen AC, Keymolen K, Stouffs K, Jennesson M, Poirsier C, Lesca G, Depienne C, Nava C, Rastetter A, Curie A, Cuisset L, Des Portes V, Milh M, Charles P, Mignot C, Héron D
J Med Genet 2024 Jan 19;61(2):103-108. doi: 10.1136/jmg-2023-109203. PMID: 37879892
Agrawal N, Verma G, Saxena D, Kabra M, Gupta N, Mandal K, Moirangthem A, Sheth J, Puri RD, Bijarnia-Mahay S, Kapoor S, Danda S, H SV, Datar CA, Ranganath P, Shukla A, Dalal A, Srivastava P, Devi RR, Phadke SR
Eur J Med Genet 2022 Mar;65(3):104447. Epub 2022 Feb 8 doi: 10.1016/j.ejmg.2022.104447. PMID: 35144014
Steele JL, Morrow MM, Sarnat HB, Alkhunaizi E, Brandt T, Chitayat DA, DeFilippo CP, Douglas GV, Dubbs HA, Elloumi HZ, Glassford MR, Hannibal MC, Héron B, Kim LE, Marco EJ, Mignot C, Monaghan KG, Myers KA, Parikh S, Quinonez SC, Rajabi F, Shankar SP, Shinawi MS, van de Kamp JJP, Veerapandiyan A, Waldman AT, Graf WD
Pediatr Neurol 2022 Jan;126:65-73. Epub 2021 Oct 18 doi: 10.1016/j.pediatrneurol.2021.10.008. PMID: 34740135
Iijima M, Hirano D, Yokoi K, Kobayashi H, Fujiwara M, Ida H, Oishi K
Pediatr Int 2021 May;63(5):543-549. Epub 2021 Mar 16 doi: 10.1111/ped.14467. PMID: 32935418
Zhang J, Ban T, Zhou L, Ji H, Yan H, Shi Z, Cao B, Jiang Y, Wang J, Wu Y
J Neurol 2020 Sep;267(9):2612-2618. Epub 2020 May 9 doi: 10.1007/s00415-020-09889-y. PMID: 32388833

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