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Intellectual disability, X-linked 82(XLID82)

MedGen UID:
337201
•Concept ID:
C1845286
•
Mental or Behavioral Dysfunction
Synonyms: MRX82; XLID82
 
Monarch Initiative: MONDO:0010352
OMIM®: 300518

Clinical features

From HPO
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
EEG abnormality
MedGen UID:
56235
•Concept ID:
C0151611
•
Finding
Abnormality observed by electroencephalogram (EEG), which is used to record of the brain's spontaneous electrical activity from multiple electrodes placed on the scalp.
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
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.
See: Feature record | Search on this feature
Kyphosis
MedGen UID:
44042
•Concept ID:
C0022821
•
Anatomical Abnormality
Exaggerated anterior convexity of the thoracic vertebral column.
See: Feature record | Search on this feature
Scoliosis
MedGen UID:
11348
•Concept ID:
C0036439
•
Disease or Syndrome
The presence of an abnormal lateral curvature of the spine.
See: Feature record | Search on this feature
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Professional guidelines

PubMed

International Consensus on Differential Diagnosis and Management of Patients With Danon Disease: JACC State-of-the-Art Review.
Hong KN, Eshraghian EA, Arad M, Argirò A, Brambatti M, Bui Q, Caspi O, de Frutos F, Greenberg B, Ho CY, Kaski JP, Olivotto I, Taylor MRG, Yesso A, Garcia-Pavia P, Adler ED
J Am Coll Cardiol 2023 Oct 17;82(16):1628-1647. doi: 10.1016/j.jacc.2023.08.014. PMID: 37821174
Cognitive and adaptive behaviors associated with disease severity and genotype in patients with mucopolysaccharidosis II.
Yee KS, Alexanderian D, Merberg D, Natarajan M, Wang S, Wu Y, Whiteman DAH
Mol Genet Metab 2023 Nov;140(3):107652. Epub 2023 Jul 13 doi: 10.1016/j.ymgme.2023.107652. PMID: 37506513
Economic impact of screening for X-linked Adrenoleukodystrophy within a newborn blood spot screening programme.
Bessey A, Chilcott JB, Leaviss J, Sutton A
Orphanet J Rare Dis 2018 Oct 11;13(1):179. doi: 10.1186/s13023-018-0921-4. PMID: 30309370Free PMC Article

Recent clinical studies

Etiology

Magnetic resonance spectroscopy as marker for neurodegeneration in X-linked adrenoleukodystrophy.
van de Stadt SIW, Schrantee A, Huffnagel IC, van Ballegoij WJC, Caan MWA, Pouwels PJW, Engelen M
Neuroimage Clin 2021;32:102793. Epub 2021 Aug 24 doi: 10.1016/j.nicl.2021.102793. PMID: 34461432Free PMC Article
Targeted Next-Generation Sequencing in Patients with Suggestive X-Linked Intellectual Disability.
Ibarluzea N, Hoz AB, Villate O, Llano I, Ocio I, Martí I, Guitart M, Gabau E, Andrade F, Gener B, Tejada MI
Genes (Basel) 2020 Jan 2;11(1) doi: 10.3390/genes11010051. PMID: 31906484Free PMC Article
Spectrum and time course of epilepsy and the associated cognitive decline in MECP2 duplication syndrome.
Marafi D, Suter B, Schultz R, Glaze D, Pavlik VN, Goldman AM
Neurology 2019 Jan 8;92(2):e108-e114. Epub 2018 Dec 14 doi: 10.1212/WNL.0000000000006742. PMID: 30552298Free PMC Article
X linked mental retardation.
Rejeb I, Ben Jemaa L, Chaabouni H
Tunis Med 2009 May;87(5):311-8. PMID: 19927760
X-linked adrenoleukodystrophy: the role of contrast-enhanced MR imaging in predicting disease progression.
Melhem ER, Loes DJ, Georgiades CS, Raymond GV, Moser HW
AJNR Am J Neuroradiol 2000 May;21(5):839-44. PMID: 10815658Free PMC Article

Diagnosis

International Consensus on Differential Diagnosis and Management of Patients With Danon Disease: JACC State-of-the-Art Review.
Hong KN, Eshraghian EA, Arad M, Argirò A, Brambatti M, Bui Q, Caspi O, de Frutos F, Greenberg B, Ho CY, Kaski JP, Olivotto I, Taylor MRG, Yesso A, Garcia-Pavia P, Adler ED
J Am Coll Cardiol 2023 Oct 17;82(16):1628-1647. doi: 10.1016/j.jacc.2023.08.014. PMID: 37821174
The feasibility and utility of hair follicle sampling to measure FMRP and FMR1 mRNA in children with or without fragile X syndrome: a pilot study.
Jalnapurkar I, Frazier JA, Roth M, Cochran DM, Foley A, Merk T, Venuti L, Ronco L, Raines S, Cadavid D
J Neurodev Disord 2022 Dec 9;14(1):57. doi: 10.1186/s11689-022-09465-7. PMID: 36494616Free PMC Article
Targeted Next-Generation Sequencing in Patients with Suggestive X-Linked Intellectual Disability.
Ibarluzea N, Hoz AB, Villate O, Llano I, Ocio I, Martí I, Guitart M, Gabau E, Andrade F, Gener B, Tejada MI
Genes (Basel) 2020 Jan 2;11(1) doi: 10.3390/genes11010051. PMID: 31906484Free PMC Article
XLMR genes: update 2007.
Chiurazzi P, Schwartz CE, Gecz J, Neri G
Eur J Hum Genet 2008 Apr;16(4):422-34. Epub 2008 Jan 16 doi: 10.1038/sj.ejhg.5201994. PMID: 18197188
Genetic basis of Rett syndrome.
Van den Veyver IB, Zoghbi HY
Ment Retard Dev Disabil Res Rev 2002;8(2):82-6. doi: 10.1002/mrdd.10025. PMID: 12112732

Therapy

Clinical Characteristics, Developmental Trajectory, and Caregiver Burden of Patients With Creatine Transporter Deficiency (SLC6A8).
Curie A, Lion-François L, Valayannopoulos V, Perreton N, Gavanon M, Touil N, Brun-Laurisse A, Gheurbi F, Buchy M, Halep H, Cheillan D, Mercier C, Brassier A, Desnous B, Kassai B, De Lonlay P, Des Portes V
Neurology 2024 Apr 23;102(8):e209243. Epub 2024 Mar 26 doi: 10.1212/WNL.0000000000209243. PMID: 38531017
Effectiveness and safety of the tri-iodothyronine analogue Triac in children and adults with MCT8 deficiency: an international, single-arm, open-label, phase 2 trial.
Groeneweg S, Peeters RP, Moran C, Stoupa A, Auriol F, Tonduti D, Dica A, Paone L, Rozenkova K, Malikova J, van der Walt A, de Coo IFM, McGowan A, Lyons G, Aarsen FK, Barca D, van Beynum IM, van der Knoop MM, Jansen J, Manshande M, Lunsing RJ, Nowak S, den Uil CA, Zillikens MC, Visser FE, Vrijmoeth P, de Wit MCY, Wolf NI, Zandstra A, Ambegaonkar G, Singh Y, de Rijke YB, Medici M, Bertini ES, Depoorter S, Lebl J, Cappa M, De Meirleir L, Krude H, Craiu D, Zibordi F, Oliver Petit I, Polak M, Chatterjee K, Visser TJ, Visser WE
Lancet Diabetes Endocrinol 2019 Sep;7(9):695-706. Epub 2019 Jul 31 doi: 10.1016/S2213-8587(19)30155-X. PMID: 31377265Free PMC Article
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
Visual evoked potentials in adrenoleukodystrophy: a trial with glycerol trioleate and Lorenzo oil.
Kaplan PW, Tusa RJ, Shankroff J, Heller J, Moser HW
Ann Neurol 1993 Aug;34(2):169-74. doi: 10.1002/ana.410340212. PMID: 8338341

Prognosis

Cognitive and adaptive behaviors associated with disease severity and genotype in patients with mucopolysaccharidosis II.
Yee KS, Alexanderian D, Merberg D, Natarajan M, Wang S, Wu Y, Whiteman DAH
Mol Genet Metab 2023 Nov;140(3):107652. Epub 2023 Jul 13 doi: 10.1016/j.ymgme.2023.107652. PMID: 37506513
Genotype-phenotype studies in a large cohort of Brazilian patients with Hunter syndrome.
Josahkian JA, Brusius-Facchin AC, Netto ABO, Leistner-Segal S, Málaga DR, Burin MG, Michelin-Tirelli K, Trapp FB, Cardoso-Dos-Santos AC, Ribeiro EM, Kim CA, de Siqueira ACM, Santos ML, do Valle DA, da Silva RTB, Horovitz DDG, de Medeiros PFV, de Souza CFM, Giuliani LR, Miguel DSCG, Santana-da-Silva LC, Galera MF, Giugliani R
Am J Med Genet C Semin Med Genet 2021 Sep;187(3):349-356. Epub 2021 May 7 doi: 10.1002/ajmg.c.31915. PMID: 33960103
GRIA3 missense mutation is cause of an x-linked developmental and epileptic encephalopathy.
Trivisano M, Santarone ME, Micalizzi A, Ferretti A, Dentici ML, Novelli A, Vigevano F, Specchio N
Seizure 2020 Nov;82:1-6. Epub 2020 Sep 22 doi: 10.1016/j.seizure.2020.08.032. PMID: 32977175
Epidemiology of X-linked adrenoleukodystrophy in Japan.
Takemoto Y, Suzuki Y, Tamakoshi A, Onodera O, Tsuji S, Hashimoto T, Shimozawa N, Orii T, Kondo N
J Hum Genet 2002;47(11):590-3. doi: 10.1007/s100380200090. PMID: 12436195
Genetic basis of Rett syndrome.
Van den Veyver IB, Zoghbi HY
Ment Retard Dev Disabil Res Rev 2002;8(2):82-6. doi: 10.1002/mrdd.10025. PMID: 12112732

Clinical prediction guides

Cognitive and adaptive behaviors associated with disease severity and genotype in patients with mucopolysaccharidosis II.
Yee KS, Alexanderian D, Merberg D, Natarajan M, Wang S, Wu Y, Whiteman DAH
Mol Genet Metab 2023 Nov;140(3):107652. Epub 2023 Jul 13 doi: 10.1016/j.ymgme.2023.107652. PMID: 37506513
Genotype-phenotype studies in a large cohort of Brazilian patients with Hunter syndrome.
Josahkian JA, Brusius-Facchin AC, Netto ABO, Leistner-Segal S, Málaga DR, Burin MG, Michelin-Tirelli K, Trapp FB, Cardoso-Dos-Santos AC, Ribeiro EM, Kim CA, de Siqueira ACM, Santos ML, do Valle DA, da Silva RTB, Horovitz DDG, de Medeiros PFV, de Souza CFM, Giuliani LR, Miguel DSCG, Santana-da-Silva LC, Galera MF, Giugliani R
Am J Med Genet C Semin Med Genet 2021 Sep;187(3):349-356. Epub 2021 May 7 doi: 10.1002/ajmg.c.31915. PMID: 33960103
Targeted Next-Generation Sequencing in Patients with Suggestive X-Linked Intellectual Disability.
Ibarluzea N, Hoz AB, Villate O, Llano I, Ocio I, Martí I, Guitart M, Gabau E, Andrade F, Gener B, Tejada MI
Genes (Basel) 2020 Jan 2;11(1) doi: 10.3390/genes11010051. PMID: 31906484Free PMC Article
Genetic basis of Rett syndrome.
Van den Veyver IB, Zoghbi HY
Ment Retard Dev Disabil Res Rev 2002;8(2):82-6. doi: 10.1002/mrdd.10025. PMID: 12112732
X-linked adrenoleukodystrophy: the role of contrast-enhanced MR imaging in predicting disease progression.
Melhem ER, Loes DJ, Georgiades CS, Raymond GV, Moser HW
AJNR Am J Neuroradiol 2000 May;21(5):839-44. PMID: 10815658Free PMC Article

Recent systematic reviews

X linked mental retardation.
Rejeb I, Ben Jemaa L, Chaabouni H
Tunis Med 2009 May;87(5):311-8. PMID: 19927760

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