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Intellectual disability, X-linked 77(XLID77)

MedGen UID:
335199
•Concept ID:
C1845499
•
Mental or Behavioral Dysfunction
Synonyms: MRX77; XLID77
 
Monarch Initiative: MONDO:0010329
OMIM®: 300454

Clinical features

From HPO
Febrile seizure (within the age range of 3 months to 6 years)
MedGen UID:
3232
•Concept ID:
C0009952
•
Disease or Syndrome
A febrile seizure is any type of seizure (most often a generalized tonic-clonic seizure) occurring with fever (at least 38 degrees Celsius) but in the absence of central nervous system infection, severe metabolic disturbance or other alternative precipitant in children between the ages of 3 months and 6 years.
See: Feature record | Search on this feature
Hyperactivity
MedGen UID:
98406
•Concept ID:
C0424295
•
Finding
Hyperactivity is a condition characterized by constant and unusually high levels of activity, even in situations where it is deemed inappropriate.
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

Professional guidelines

PubMed

Anxiety-like behavior and anxiolytic treatment in the Rett syndrome natural history study.
Buchanan CB, Stallworth JL, Joy AE, Dixon RE, Scott AE, Beisang AA, Benke TA, Glaze DG, Haas RH, Heydemann PT, Jones MD, Lane JB, Lieberman DN, Marsh ED, Neul JL, Peters SU, Ryther RC, Skinner SA, Standridge SM, Kaufmann WE, Percy AK
J Neurodev Disord 2022 May 14;14(1):31. doi: 10.1186/s11689-022-09432-2. PMID: 35568815Free PMC Article
Mucopolysaccharidosis type II (Hunter syndrome): Clinical and biochemical aspects of the disease and approaches to its diagnosis and treatment.
Mohamed S, He QQ, Singh AA, Ferro V
Adv Carbohydr Chem Biochem 2020;77:71-117. Epub 2019 Oct 26 doi: 10.1016/bs.accb.2019.09.001. PMID: 33004112
Evidence report: Genetic and metabolic testing on children with global developmental delay: report of the Quality Standards Subcommittee of the American Academy of Neurology and the Practice Committee of the Child Neurology Society.
Michelson DJ, Shevell MI, Sherr EH, Moeschler JB, Gropman AL, Ashwal S
Neurology 2011 Oct 25;77(17):1629-35. Epub 2011 Sep 28 doi: 10.1212/WNL.0b013e3182345896. PMID: 21956720

Recent clinical studies

Etiology

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
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
Successful donor engraftment and repair of the blood-brain barrier in cerebral adrenoleukodystrophy.
Orchard PJ, Nascene DR, Miller WP, Gupta A, Kenney-Jung D, Lund TC
Blood 2019 Mar 21;133(12):1378-1381. Epub 2019 Jan 11 doi: 10.1182/blood-2018-11-887240. PMID: 30635285Free PMC Article
Diagnostic methods and recommendations for the cerebral creatine deficiency syndromes.
Clark JF, Cecil KM
Pediatr Res 2015 Mar;77(3):398-405. Epub 2014 Dec 18 doi: 10.1038/pr.2014.203. PMID: 25521922
Multiplex ligation-dependent probe amplification analysis of the NR0B1(DAX1) locus enables explanation of phenotypic differences in patients with X-linked congenital adrenal hypoplasia.
Barbaro M, Bens S, Haake A, Peter M, Brämswig J, Holterhus PM, Lopez-Siguero JP, Menken U, Mix M, Sippell WG, Wedell A, Riepe FG
Horm Res Paediatr 2012;77(2):100-7. Epub 2012 Mar 23 doi: 10.1159/000336344. PMID: 22456342

Diagnosis

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
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
Diagnostic Yield and Novel Candidate Genes by Exome Sequencing in 152 Consanguineous Families With Neurodevelopmental Disorders.
Reuter MS, Tawamie H, Buchert R, Hosny Gebril O, Froukh T, Thiel C, Uebe S, Ekici AB, Krumbiegel M, Zweier C, Hoyer J, Eberlein K, Bauer J, Scheller U, Strom TM, Hoffjan S, Abdelraouf ER, Meguid NA, Abboud A, Al Khateeb MA, Fakher M, Hamdan S, Ismael A, Muhammad S, Abdallah E, Sticht H, Wieczorek D, Reis A, Abou Jamra R
JAMA Psychiatry 2017 Mar 1;74(3):293-299. doi: 10.1001/jamapsychiatry.2016.3798. PMID: 28097321
Diagnostic methods and recommendations for the cerebral creatine deficiency syndromes.
Clark JF, Cecil KM
Pediatr Res 2015 Mar;77(3):398-405. Epub 2014 Dec 18 doi: 10.1038/pr.2014.203. PMID: 25521922
Identification of female carriers of adrenoleukodystrophy.
Moser HW, Moser AE, Trojak JE, Supplee SW
J Pediatr 1983 Jul;103(1):54-9. doi: 10.1016/s0022-3476(83)80775-6. PMID: 6864396

Therapy

Anxiety-like behavior and anxiolytic treatment in the Rett syndrome natural history study.
Buchanan CB, Stallworth JL, Joy AE, Dixon RE, Scott AE, Beisang AA, Benke TA, Glaze DG, Haas RH, Heydemann PT, Jones MD, Lane JB, Lieberman DN, Marsh ED, Neul JL, Peters SU, Ryther RC, Skinner SA, Standridge SM, Kaufmann WE, Percy AK
J Neurodev Disord 2022 May 14;14(1):31. doi: 10.1186/s11689-022-09432-2. PMID: 35568815Free PMC Article
Urological complications and copper replacement therapy in childhood Menkes syndrome.
Zaffanello M, Maffeis C, Fanos V, Franchini M, Zamboni G
Acta Paediatr 2006 Jul;95(7):785-90. doi: 10.1080/08035250500538957. PMID: 16801172
Adrenomyeloneuropathy: a rare cause of Addison's disease?
Hochstenbag MM, Peters FP, Anten HW, Moers AM
Neth J Med 1996 Aug;49(2):77-81. doi: 10.1016/0300-2977(96)00017-4. PMID: 8824109

Prognosis

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
Transcriptomic analysis of Simpson Golabi Behmel syndrome cells during differentiation exhibit BAT-like function.
Colitti M, Ali U, Wabitsch M, Tews D
Tissue Cell 2022 Aug;77:101822. Epub 2022 May 18 doi: 10.1016/j.tice.2022.101822. PMID: 35623306
Successful donor engraftment and repair of the blood-brain barrier in cerebral adrenoleukodystrophy.
Orchard PJ, Nascene DR, Miller WP, Gupta A, Kenney-Jung D, Lund TC
Blood 2019 Mar 21;133(12):1378-1381. Epub 2019 Jan 11 doi: 10.1182/blood-2018-11-887240. PMID: 30635285Free PMC Article
Revealing the Effects of Missense Mutations Causing Snyder-Robinson Syndrome on the Stability and Dimerization of Spermine Synthase.
Peng Y, Norris J, Schwartz C, Alexov E
Int J Mol Sci 2016 Jan 8;17(1) doi: 10.3390/ijms17010077. PMID: 26761001Free PMC Article
Diagnostic methods and recommendations for the cerebral creatine deficiency syndromes.
Clark JF, Cecil KM
Pediatr Res 2015 Mar;77(3):398-405. Epub 2014 Dec 18 doi: 10.1038/pr.2014.203. PMID: 25521922

Clinical prediction guides

Landscape of genetic infantile epileptic spasms syndrome-A multicenter cohort of 124 children from India.
Nagarajan B, Gowda VK, Yoganathan S, Sharawat IK, Srivastava K, Vora N, Badheka R, Danda S, Kalane U, Kaur A, Madaan P, Mehta S, Negi S, Panda PK, Rajadhyaksha S, Saini AG, Saini L, Shah S, Srinivasan VM, Suthar R, Thomas M, Vyas S, Sankhyan N, Sahu JK
Epilepsia Open 2023 Dec;8(4):1383-1404. Epub 2023 Aug 25 doi: 10.1002/epi4.12811. PMID: 37583270Free PMC Article
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
Successful donor engraftment and repair of the blood-brain barrier in cerebral adrenoleukodystrophy.
Orchard PJ, Nascene DR, Miller WP, Gupta A, Kenney-Jung D, Lund TC
Blood 2019 Mar 21;133(12):1378-1381. Epub 2019 Jan 11 doi: 10.1182/blood-2018-11-887240. PMID: 30635285Free PMC Article
Revealing the Effects of Missense Mutations Causing Snyder-Robinson Syndrome on the Stability and Dimerization of Spermine Synthase.
Peng Y, Norris J, Schwartz C, Alexov E
Int J Mol Sci 2016 Jan 8;17(1) doi: 10.3390/ijms17010077. PMID: 26761001Free PMC Article
Novel missense mutations in the ubiquitination-related gene UBE2A cause a recognizable X-linked mental retardation syndrome.
Budny B, Badura-Stronka M, Materna-Kiryluk A, Tzschach A, Raynaud M, Latos-Bielenska A, Ropers HH
Clin Genet 2010 Jun;77(6):541-51. Epub 2010 Apr 19 doi: 10.1111/j.1399-0004.2010.01429.x. PMID: 20412111

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