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Intellectual disability, X-linked 14(MRX14; XLID14)

MedGen UID:
163231
•Concept ID:
C0796220
•
Mental or Behavioral Dysfunction
Synonyms: Mental retardation, X-linked 14; Mental retardation, X-linked nonspecific, type 14; XLID14
 
Monarch Initiative: MONDO:0010236
OMIM®: 300062

Definition

Nonsyndromic mental retardation with inconsistent abnormalities. [from MCA/MR]

Clinical features

From HPO
Macroorchidism
MedGen UID:
224727
•Concept ID:
C1263023
•
Finding
The presence of abnormally large testes.
See: Feature record | Search on this feature
Intellectual disability, moderate
MedGen UID:
7680
•Concept ID:
C0026351
•
Mental or Behavioral Dysfunction
Moderate mental retardation is defined as an intelligence quotient (IQ) in the range of 35-49.
See: Feature record | Search on this feature
Seizure
MedGen UID:
20693
•Concept ID:
C0036572
•
Sign or Symptom
A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.
See: Feature record | Search on this feature
Poor speech
MedGen UID:
341172
•Concept ID:
C1848207
•
Finding
See: Feature record | Search on this feature
Abnormal facial shape
MedGen UID:
98409
•Concept ID:
C0424503
•
Finding
An abnormal morphology (form) of the face or its components.
See: Feature record | Search on this feature
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Professional guidelines

PubMed

Multidisciplinary Management of Rett Syndrome: Twenty Years' Experience.
Vilvarajan S, McDonald M, Douglas L, Newham J, Kirkland R, Tzannes G, Tay D, Christodoulou J, Thompson S, Ellaway C
Genes (Basel) 2023 Aug 11;14(8) doi: 10.3390/genes14081607. PMID: 37628658Free PMC Article
Treatment of cerebral adrenoleukodystrophy: allogeneic transplantation and lentiviral gene therapy.
Gupta AO, Raymond G, Pierpont EI, Kemp S, McIvor RS, Rayannavar A, Miller B, Lund TC, Orchard PJ
Expert Opin Biol Ther 2022 Sep;22(9):1151-1162. Epub 2022 Sep 19 doi: 10.1080/14712598.2022.2124857. PMID: 36107226
X-linked adrenoleukodystrophy: pathogenesis and treatment.
Engelen M, Kemp S, Poll-The BT
Curr Neurol Neurosci Rep 2014 Oct;14(10):486. doi: 10.1007/s11910-014-0486-0. PMID: 25115486

Recent clinical studies

Etiology

X-linked adrenoleukodystrophy and primary adrenal insufficiency.
Cappa M, Todisco T, Bizzarri C
Front Endocrinol (Lausanne) 2023;14:1309053. Epub 2023 Nov 16 doi: 10.3389/fendo.2023.1309053. PMID: 38034003Free PMC Article
Multidisciplinary Management of Rett Syndrome: Twenty Years' Experience.
Vilvarajan S, McDonald M, Douglas L, Newham J, Kirkland R, Tzannes G, Tay D, Christodoulou J, Thompson S, Ellaway C
Genes (Basel) 2023 Aug 11;14(8) doi: 10.3390/genes14081607. PMID: 37628658Free PMC Article
Treatment of cerebral adrenoleukodystrophy: allogeneic transplantation and lentiviral gene therapy.
Gupta AO, Raymond G, Pierpont EI, Kemp S, McIvor RS, Rayannavar A, Miller B, Lund TC, Orchard PJ
Expert Opin Biol Ther 2022 Sep;22(9):1151-1162. Epub 2022 Sep 19 doi: 10.1080/14712598.2022.2124857. PMID: 36107226
MRI brain lesions in asymptomatic boys with X-linked adrenoleukodystrophy.
Liberato AP, Mallack EJ, Aziz-Bose R, Hayden D, Lauer A, Caruso PA, Musolino PL, Eichler FS
Neurology 2019 Apr 9;92(15):e1698-e1708. Epub 2019 Mar 22 doi: 10.1212/WNL.0000000000007294. PMID: 30902905Free PMC Article
Peroxisomal disorders.
Raymond GV
Curr Opin Neurol 2001 Dec;14(6):783-7. doi: 10.1097/00019052-200112000-00017. PMID: 11723389

Diagnosis

X-linked adrenoleukodystrophy and primary adrenal insufficiency.
Cappa M, Todisco T, Bizzarri C
Front Endocrinol (Lausanne) 2023;14:1309053. Epub 2023 Nov 16 doi: 10.3389/fendo.2023.1309053. PMID: 38034003Free PMC Article
Multidisciplinary Management of Rett Syndrome: Twenty Years' Experience.
Vilvarajan S, McDonald M, Douglas L, Newham J, Kirkland R, Tzannes G, Tay D, Christodoulou J, Thompson S, Ellaway C
Genes (Basel) 2023 Aug 11;14(8) doi: 10.3390/genes14081607. PMID: 37628658Free PMC Article
MRI brain lesions in asymptomatic boys with X-linked adrenoleukodystrophy.
Liberato AP, Mallack EJ, Aziz-Bose R, Hayden D, Lauer A, Caruso PA, Musolino PL, Eichler FS
Neurology 2019 Apr 9;92(15):e1698-e1708. Epub 2019 Mar 22 doi: 10.1212/WNL.0000000000007294. PMID: 30902905Free PMC Article
Peroxisomal disorders.
Raymond GV
Curr Opin Neurol 2001 Dec;14(6):783-7. doi: 10.1097/00019052-200112000-00017. PMID: 11723389
Norrie's disease.
Warburg M
Birth Defects Orig Artic Ser 1971 Mar;7(3):117-24. PMID: 5006136

Therapy

Lentiviral Gene Therapy for Cerebral Adrenoleukodystrophy.
Eichler F, Duncan CN, Musolino PL, Lund TC, Gupta AO, De Oliveira S, Thrasher AJ, Aubourg P, Kühl JS, Loes DJ, Amartino H, Smith N, Folloni Fernandes J, Sevin C, Sankar R, Hussain SA, Gissen P, Dalle JH, Platzbecker U, Downey GF, McNeil E, Demopoulos L, Dietz AC, Thakar HL, Orchard PJ, Williams DA
N Engl J Med 2024 Oct 10;391(14):1302-1312. doi: 10.1056/NEJMoa2400442. PMID: 39383459
X-linked adrenoleukodystrophy and primary adrenal insufficiency.
Cappa M, Todisco T, Bizzarri C
Front Endocrinol (Lausanne) 2023;14:1309053. Epub 2023 Nov 16 doi: 10.3389/fendo.2023.1309053. PMID: 38034003Free PMC Article
Long-Term Efficacy of T3 Analogue Triac in Children and Adults With MCT8 Deficiency: A Real-Life Retrospective Cohort Study.
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
Quantitative evaluation of the clinical effects of S-adenosylmethionine on mood and behavior in Lesch-Nyhan patients.
Dolcetta D, Parmigiani P, Salmaso L, Bernardelle R, Cesari U, Andrighetto G, Baschirotto G, Nyhan WL, Hladnik U
Nucleosides Nucleotides Nucleic Acids 2013;32(4):174-88. doi: 10.1080/15257770.2013.774012. PMID: 24001191
Effects of enzyme replacement therapy on growth in patients with mucopolysaccharidosis type II.
Schulze-Frenking G, Jones SA, Roberts J, Beck M, Wraith JE
J Inherit Metab Dis 2011 Feb;34(1):203-8. Epub 2010 Oct 27 doi: 10.1007/s10545-010-9215-2. PMID: 20978944Free PMC Article

Prognosis

History and Perspective of LAMP-2 Deficiency (Danon Disease).
Sugie K, Nishino I
Biomolecules 2024 Oct 9;14(10) doi: 10.3390/biom14101272. PMID: 39456205Free PMC Article
Multidisciplinary Management of Rett Syndrome: Twenty Years' Experience.
Vilvarajan S, McDonald M, Douglas L, Newham J, Kirkland R, Tzannes G, Tay D, Christodoulou J, Thompson S, Ellaway C
Genes (Basel) 2023 Aug 11;14(8) doi: 10.3390/genes14081607. PMID: 37628658Free PMC Article
Mitral valve repair and tricuspid annuloplasty for Coffin-Lowry syndrome.
Wakami T, Yoshizawa K, Maeda T, Mori O, Tamura N
Asian Cardiovasc Thorac Ann 2022 Nov;30(9):1017-1019. Epub 2022 Sep 7 doi: 10.1177/02184923221123879. PMID: 36069024
Impact of ERT and follow-up of 17 patients from the same family with a mild form of MPS II.
Stephan BO, Quaio CR, Spolador GM, de Paula AC, Curiati MA, Martins AM, Leal GN, Tenorio A, Finzi S, Chimelo FT, Matas CG, Honjo RS, Bertola DR, Kim CA
Clinics (Sao Paulo) 2022;77:100082. Epub 2022 Jul 23 doi: 10.1016/j.clinsp.2022.100082. PMID: 35882106Free PMC Article
Long-Term Efficacy of T3 Analogue Triac in Children and Adults With MCT8 Deficiency: A Real-Life Retrospective Cohort Study.
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

Clinical prediction guides

X-linked adrenoleukodystrophy and primary adrenal insufficiency.
Cappa M, Todisco T, Bizzarri C
Front Endocrinol (Lausanne) 2023;14:1309053. Epub 2023 Nov 16 doi: 10.3389/fendo.2023.1309053. PMID: 38034003Free PMC Article
Multidisciplinary Management of Rett Syndrome: Twenty Years' Experience.
Vilvarajan S, McDonald M, Douglas L, Newham J, Kirkland R, Tzannes G, Tay D, Christodoulou J, Thompson S, Ellaway C
Genes (Basel) 2023 Aug 11;14(8) doi: 10.3390/genes14081607. PMID: 37628658Free PMC Article
MRI brain lesions in asymptomatic boys with X-linked adrenoleukodystrophy.
Liberato AP, Mallack EJ, Aziz-Bose R, Hayden D, Lauer A, Caruso PA, Musolino PL, Eichler FS
Neurology 2019 Apr 9;92(15):e1698-e1708. Epub 2019 Mar 22 doi: 10.1212/WNL.0000000000007294. PMID: 30902905Free PMC Article
HUWE1 variants cause dominant X-linked intellectual disability: a clinical study of 21 patients.
Moortgat S, Berland S, Aukrust I, Maystadt I, Baker L, Benoit V, Caro-Llopis A, Cooper NS, Debray FG, Faivre L, Gardeitchik T, Haukanes BI, Houge G, Kivuva E, Martinez F, Mehta SG, Nassogne MC, Powell-Hamilton N, Pfundt R, Rosello M, Prescott T, Vasudevan P, van Loon B, Verellen-Dumoulin C, Verloes A, Lippe CV, Wakeling E, Wilkie AOM, Wilson L, Yuen A, Study D, Low KJ, Newbury-Ecob RA
Eur J Hum Genet 2018 Jan;26(1):64-74. Epub 2017 Nov 27 doi: 10.1038/s41431-017-0038-6. PMID: 29180823Free PMC Article
Congenital abnormalities in Japanese patients with Menkes disease.
Gu YH, Kodama H, Kato T
Brain Dev 2012 Oct;34(9):746-9. Epub 2012 Feb 22 doi: 10.1016/j.braindev.2012.01.012. PMID: 22361452

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