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Intellectual disability, X-linked 45(XLID45)

MedGen UID:
375633
Concept ID:
C1845333
Mental or Behavioral Dysfunction
Synonym: XLID45
 
Monarch Initiative: MONDO:0010344
OMIM®: 300498

Definition

Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the ZNF81 gene. [from MONDO]

Clinical features

From HPO
Short stature
MedGen UID:
87607
Concept ID:
C0349588
Finding
A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms).
Macrotia
MedGen UID:
488785
Concept ID:
C0152421
Congenital Abnormality
Median longitudinal ear length greater than two standard deviations above the mean and median ear width greater than two standard deviations above the mean (objective); or, apparent increase in length and width of the pinna (subjective).
Protruding ear
MedGen UID:
343309
Concept ID:
C1855285
Finding
Angle formed by the plane of the ear and the mastoid bone greater than the 97th centile for age (objective); or, outer edge of the helix more than 2 cm from the mastoid at the point of maximum distance (objective).
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.
High palate
MedGen UID:
66814
Concept ID:
C0240635
Congenital Abnormality
Height of the palate more than 2 SD above the mean (objective) or palatal height at the level of the first permanent molar more than twice the height of the teeth (subjective).
Prominent nasal bridge
MedGen UID:
343051
Concept ID:
C1854113
Finding
Anterior positioning of the nasal root in comparison to the usual positioning for age.

Professional guidelines

PubMed

Lin L, Zhang Y, Pan H, Wang J, Qi Y, Ma Y
Orphanet J Rare Dis 2020 Nov 11;15(1):317. doi: 10.1186/s13023-020-01599-y. PMID: 33176815Free PMC Article
Nizon M, Andrieux J, Rooryck C, de Blois MC, Bourel-Ponchel E, Bourgois B, Boute O, David A, Delobel B, Duban-Bedu B, Giuliano F, Goldenberg A, Grotto S, Héron D, Karmous-Benailly H, Keren B, Lacombe D, Lapierre JM, Le Caignec C, Le Galloudec E, Le Merrer M, Le Moing AG, Mathieu-Dramard M, Nusbaum S, Pichon O, Pinson L, Raoul O, Rio M, Romana S, Roubertie A, Colleaux L, Turleau C, Vekemans M, Nabbout R, Malan V
Am J Med Genet A 2015 Jan;167A(1):111-22. Epub 2014 Nov 25 doi: 10.1002/ajmg.a.36807. PMID: 25425167
Hsu LY, Dubin EC, Kerenyi T, Hirschhorn K
J Med Genet 1973 Jun;10(2):112-9. doi: 10.1136/jmg.10.2.112. PMID: 4268389Free PMC Article

Recent clinical studies

Etiology

Nakamura A, Matsumura T, Ogata K, Mori-Yoshimura M, Takeshita E, Kimura K, Kawashima T, Tomo Y, Arahata H, Miyazaki D, Takeshima Y, Takahashi T, Ishigaki K, Kuru S, Wakisaka A, Awano H, Funato M, Sato T, Saito Y, Takada H, Sugie K, Kobayashi M, Ozasa S, Fujii T, Maegaki Y, Oi H, Tachimori H, Komaki H
Ann Clin Transl Neurol 2023 Dec;10(12):2360-2372. Epub 2023 Oct 26 doi: 10.1002/acn3.51925. PMID: 37882106Free PMC Article
Ziats CA, Schwartz CE, Gecz J, Shaw M, Field MJ, Stevenson RE, Neri G
Clin Genet 2020 Mar;97(3):418-425. Epub 2019 Nov 24 doi: 10.1111/cge.13667. PMID: 31705537
Chiurazzi P, Tabolacci E, Neri G
Crit Rev Clin Lab Sci 2004;41(2):117-58. doi: 10.1080/10408360490443013. PMID: 15270552
Hennekam RC, Stevens CA, Van de Kamp JJ
Am J Med Genet Suppl 1990;6:56-64. doi: 10.1002/ajmg.1320370610. PMID: 2118780
Smalley SL, Asarnow RF, Spence MA
Arch Gen Psychiatry 1988 Oct;45(10):953-61. doi: 10.1001/archpsyc.1988.01800340081013. PMID: 3048227

Diagnosis

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
Lin L, Zhang Y, Pan H, Wang J, Qi Y, Ma Y
Orphanet J Rare Dis 2020 Nov 11;15(1):317. doi: 10.1186/s13023-020-01599-y. PMID: 33176815Free PMC Article
Diaz J, Berger S, Leon E
Am J Med Genet A 2020 Mar;182(3):584-590. Epub 2019 Dec 12 doi: 10.1002/ajmg.a.61437. PMID: 31833172
Shamim MM, Vickers A, Lee AG, Costello F
Surv Ophthalmol 2019 Nov-Dec;64(6):876-883. Epub 2018 Dec 4 doi: 10.1016/j.survophthal.2018.11.003. PMID: 30521817
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

Therapy

Ziats CA, Schwartz CE, Gecz J, Shaw M, Field MJ, Stevenson RE, Neri G
Clin Genet 2020 Mar;97(3):418-425. Epub 2019 Nov 24 doi: 10.1111/cge.13667. PMID: 31705537
Berry-Kravis E, Des Portes V, Hagerman R, Jacquemont S, Charles P, Visootsak J, Brinkman M, Rerat K, Koumaras B, Zhu L, Barth GM, Jaecklin T, Apostol G, von Raison F
Sci Transl Med 2016 Jan 13;8(321):321ra5. doi: 10.1126/scitranslmed.aab4109. PMID: 26764156
Cappa M, Bizzarri C, Giannone G, Aiello C, Di Biase A
J Endocrinol Invest 2011 Nov;34(10):753-6. Epub 2011 Mar 7 doi: 10.3275/7570. PMID: 21399389
Miyoshi Y, Sakai N, Hamada Y, Tachibana M, Hasegawa Y, Kiyohara Y, Yamada H, Murakami M, Kondou H, Kimura-Ohba S, Mine J, Sato T, Kamio N, Ueda H, Suzuki Y, Shiomi M, Ohta H, Shimozawa N, Ozono K
Endocr J 2010;57(11):965-72. Epub 2010 Sep 16 doi: 10.1507/endocrj.k10e-204. PMID: 20859061
Acharya SV, Gopal RA, Bandgar TR, Joshi SR, Menon PS, Shah NS
Indian J Pediatr 2009 Oct;76(10):1045-7. Epub 2009 Nov 12 doi: 10.1007/s12098-009-0220-0. PMID: 19907937

Prognosis

Nakamura A, Matsumura T, Ogata K, Mori-Yoshimura M, Takeshita E, Kimura K, Kawashima T, Tomo Y, Arahata H, Miyazaki D, Takeshima Y, Takahashi T, Ishigaki K, Kuru S, Wakisaka A, Awano H, Funato M, Sato T, Saito Y, Takada H, Sugie K, Kobayashi M, Ozasa S, Fujii T, Maegaki Y, Oi H, Tachimori H, Komaki H
Ann Clin Transl Neurol 2023 Dec;10(12):2360-2372. Epub 2023 Oct 26 doi: 10.1002/acn3.51925. PMID: 37882106Free PMC Article
Arvio M, Lähdetie J
Am J Med Genet A 2021 Jul;185(7):2164-2167. Epub 2021 May 4 doi: 10.1002/ajmg.a.62213. PMID: 33942960
Schirinzi T, Vasco G, Aiello C, Rizzo C, Sancesario A, Romano A, Favetta M, Petrarca M, Paone L, Castelli E, Bertini ES, Cappa M
Eur J Neurol 2019 Feb;26(2):326-332. Epub 2018 Nov 9 doi: 10.1111/ene.13816. PMID: 30295399
Meuwissen ME, Mancini GM
Eur J Med Genet 2012 May;55(5):323-31. Epub 2012 May 4 doi: 10.1016/j.ejmg.2012.04.007. PMID: 22564885
Moser HW, Moser AB, Naidu S, Bergin A
Dev Neurosci 1991;13(4-5):254-61. doi: 10.1159/000112170. PMID: 1817030

Clinical prediction guides

Nakamura A, Matsumura T, Ogata K, Mori-Yoshimura M, Takeshita E, Kimura K, Kawashima T, Tomo Y, Arahata H, Miyazaki D, Takeshima Y, Takahashi T, Ishigaki K, Kuru S, Wakisaka A, Awano H, Funato M, Sato T, Saito Y, Takada H, Sugie K, Kobayashi M, Ozasa S, Fujii T, Maegaki Y, Oi H, Tachimori H, Komaki H
Ann Clin Transl Neurol 2023 Dec;10(12):2360-2372. Epub 2023 Oct 26 doi: 10.1002/acn3.51925. PMID: 37882106Free PMC Article
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
Buermans NJML, van den Bosch SJG, Huffnagel IC, Steenweg ME, Engelen M, Oostrom KJ, Geurtsen GJ
Orphanet J Rare Dis 2019 Sep 14;14(1):217. doi: 10.1186/s13023-019-1184-4. PMID: 31521182Free PMC Article
Schirinzi T, Vasco G, Aiello C, Rizzo C, Sancesario A, Romano A, Favetta M, Petrarca M, Paone L, Castelli E, Bertini ES, Cappa M
Eur J Neurol 2019 Feb;26(2):326-332. Epub 2018 Nov 9 doi: 10.1111/ene.13816. PMID: 30295399
Smalley SL, Asarnow RF, Spence MA
Arch Gen Psychiatry 1988 Oct;45(10):953-61. doi: 10.1001/archpsyc.1988.01800340081013. PMID: 3048227

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