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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, tenseness, or panic, often in reaction to interpersonal stresses; worry about the negative effects of past unpleasant experiences and future negative possibilities; feeling fearful, apprehensive, or threatened by uncertainty; fears of falling apart or losing control.
See: Feature record | Search on this feature
Hyperreflexia
MedGen UID:
57738
•Concept ID:
C0151889
•
Finding
Hyperreflexia is the presence of hyperactive stretch reflexes of the muscles.
See: Feature record | Search on this feature
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.
See: Feature record | Search on this feature
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.
See: Feature record | Search on this feature
Intellectual disability
MedGen UID:
811461
•Concept ID:
C3714756
•
Mental or Behavioral Dysfunction
Subnormal intellectual functioning which originates during the developmental period. Intellectual disability, previously referred to as mental retardation, has been defined as an IQ score below 70.
See: Feature record | Search on this feature
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.
See: Feature record | Search on this feature
Microcephaly
MedGen UID:
1644158
•Concept ID:
C4551563
•
Finding
Head circumference below 2 standard deviations below the mean for age and gender.
See: Feature record | Search on this feature
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Professional guidelines

PubMed

Genotype-phenotype spectrum of 130 unrelated Indian families with Mucopolysaccharidosis type II.
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
Streamlined determination of lysophosphatidylcholines in dried blood spots for newborn screening of X-linked adrenoleukodystrophy.
Turgeon CT, Moser AB, Mørkrid L, Magera MJ, Gavrilov DK, Oglesbee D, Raymond K, Rinaldo P, Matern D, Tortorelli S
Mol Genet Metab 2015 Jan;114(1):46-50. Epub 2014 Nov 27 doi: 10.1016/j.ymgme.2014.11.013. PMID: 25481105
Clinical utility of the X-chromosome array.
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

Cardiac Transplantation in Danon Disease.
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
Epilepsy in children with leukodystrophies.
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
Attentional shifting and disengagement in Rett syndrome.
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
X-linked adrenoleukodystrophy in women: a cross-sectional cohort study.
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
Genetics of non-syndromic autosomal recessive mental retardation.
Afroze B, Chaudhry B
J Pak Med Assoc 2013 Jan;63(1):106-10. PMID: 23865144

Diagnosis

Genotype-phenotype spectrum of 130 unrelated Indian families with Mucopolysaccharidosis type II.
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
Cardiac Transplantation in Danon Disease.
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
Epilepsy in children with leukodystrophies.
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
X-linked adrenoleukodystrophy in women: a cross-sectional cohort study.
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
Clinical utility of the X-chromosome array.
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

Therapy

X-chromosome inactivation: implications in human disease.
Pereira G, Dória S
J Genet 2021;100 PMID: 34553695
Outcomes of unrelated umbilical cord blood transplantation for X-linked adrenoleukodystrophy.
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
Adrenal steroids in adrenomyeloneuropathy. Dehydroepiandrosterone sulfate, androstenedione and 17alpha-hydroxyprogesterone.
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
Effect of dehydroepiandrosterone supplementation on fatty acid and hormone levels in patients with X-linked adrenoleucodystrophy.
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
Assessment of adrenal function in women heterozygous for adrenoleukodystrophy.
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

Genotype-phenotype spectrum of 130 unrelated Indian families with Mucopolysaccharidosis type II.
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
Semaphorin-Plexin Signaling: From Axonal Guidance to a New X-Linked Intellectual Disability Syndrome.
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
A Christianson syndrome-linked deletion mutation (∆(287)ES(288)) in SLC9A6 disrupts recycling endosomal function and elicits neurodegeneration and cell death.
Ilie A, Gao AY, Reid J, Boucher A, McEwan C, Barrière H, Lukacs GL, McKinney RA, Orlowski J
Mol Neurodegener 2016 Sep 2;11(1):63. doi: 10.1186/s13024-016-0129-9. PMID: 27590723Free PMC Article
Eight novel mutations in the ABCD1 gene and clinical characteristics of 25 Chinese patients with X-linked adrenoleukodystrophy.
Chu SS, Ye J, Zhang HW, Han LS, Qiu WJ, Gao XL, Gu XF
World J Pediatr 2015 Nov;11(4):366-73. Epub 2015 Oct 11 doi: 10.1007/s12519-015-0044-0. PMID: 26454440
Prevalence and prevention of severe complications of hypohidrotic ectodermal dysplasia in infancy.
Blüschke G, Nüsken KD, Schneider H
Early Hum Dev 2010 Jul;86(7):397-9. Epub 2010 Jun 1 doi: 10.1016/j.earlhumdev.2010.04.008. PMID: 20682465

Clinical prediction guides

Genotype-phenotype spectrum of 130 unrelated Indian families with Mucopolysaccharidosis type II.
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
Semaphorin-Plexin Signaling: From Axonal Guidance to a New X-Linked Intellectual Disability Syndrome.
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
Epilepsy in children with leukodystrophies.
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
Eight novel mutations in the ABCD1 gene and clinical characteristics of 25 Chinese patients with X-linked adrenoleukodystrophy.
Chu SS, Ye J, Zhang HW, Han LS, Qiu WJ, Gao XL, Gu XF
World J Pediatr 2015 Nov;11(4):366-73. Epub 2015 Oct 11 doi: 10.1007/s12519-015-0044-0. PMID: 26454440
Mutations in JARID1C are associated with X-linked mental retardation, short stature and hyperreflexia.
Abidi FE, Holloway L, Moore CA, Weaver DD, Simensen RJ, Stevenson RE, Rogers RC, Schwartz CE
J Med Genet 2008 Dec;45(12):787-93. Epub 2008 Aug 12 doi: 10.1136/jmg.2008.058990. PMID: 18697827Free PMC Article

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