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Intellectual disability, X-linked 58(XLID58)

MedGen UID:
337526
Concept ID:
C1846174
Disease or Syndrome
Synonyms: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 58; XLID58
 
Gene (location): TSPAN7 (Xp11.4)
 
Monarch Initiative: MONDO:0010266
OMIM®: 300210

Definition

Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the TSPAN7 gene. [from MONDO]

Clinical features

From HPO
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.
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.
Dental malocclusion
MedGen UID:
9869
Concept ID:
C0024636
Anatomical Abnormality
Dental malocclusion refers to an abnormality of the occlusion, or alignment, of the teeth and the way the upper and lower teeth fit together, resulting in overcrowding of teeth or in abnormal bite patterns.
Long face
MedGen UID:
324419
Concept ID:
C1836047
Finding
Facial height (length) is more than 2 standard deviations above the mean (objective); or, an apparent increase in the height (length) of the face (subjective).
Narrow face
MedGen UID:
373334
Concept ID:
C1837463
Finding
Bizygomatic (upper face) and bigonial (lower face) width are both more than 2 standard deviations below the mean (objective); or, an apparent reduction in the width of the upper and lower face (subjective).
Short philtrum
MedGen UID:
350006
Concept ID:
C1861324
Finding
Distance between nasal base and midline upper lip vermilion border more than 2 SD below the mean. Alternatively, an apparently decreased distance between nasal base and midline upper lip vermilion border.
Small nail
MedGen UID:
537942
Concept ID:
C0263523
Finding
A nail that is diminished in length and width, i.e., underdeveloped nail.
Myopia
MedGen UID:
44558
Concept ID:
C0027092
Disease or Syndrome
Nearsightedness, also known as myopia, is an eye condition that causes blurry distance vision. People who are nearsighted have more trouble seeing things that are far away (such as when driving) than things that are close up (such as when reading or using a computer). If it is not treated with corrective lenses or surgery, nearsightedness can lead to squinting, eyestrain, headaches, and significant visual impairment.\n\nNearsightedness usually begins in childhood or adolescence. It tends to worsen with age until adulthood, when it may stop getting worse (stabilize). In some people, nearsightedness improves in later adulthood.\n\nFor normal vision, light passes through the clear cornea at the front of the eye and is focused by the lens onto the surface of the retina, which is the lining of the back of the eye that contains light-sensing cells. People who are nearsighted typically have eyeballs that are too long from front to back. As a result, light entering the eye is focused too far forward, in front of the retina instead of on its surface. It is this change that causes distant objects to appear blurry. The longer the eyeball is, the farther forward light rays will be focused and the more severely nearsighted a person will be.\n\nNearsightedness is measured by how powerful a lens must be to correct it. The standard unit of lens power is called a diopter. Negative (minus) powered lenses are used to correct nearsightedness. The more severe a person's nearsightedness, the larger the number of diopters required for correction. In an individual with nearsightedness, one eye may be more nearsighted than the other.\n\nEye doctors often refer to nearsightedness less than -5 or -6 diopters as "common myopia." Nearsightedness of -6 diopters or more is commonly called "high myopia." This distinction is important because high myopia increases a person's risk of developing other eye problems that can lead to permanent vision loss or blindness. These problems include tearing and detachment of the retina, clouding of the lens (cataract), and an eye disease called glaucoma that is usually related to increased pressure within the eye. The risk of these other eye problems increases with the severity of the nearsightedness. The term "pathological myopia" is used to describe cases in which high myopia leads to tissue damage within the eye.
Nystagmus
MedGen UID:
45166
Concept ID:
C0028738
Disease or Syndrome
Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms.

Professional guidelines

PubMed

Liu S, Li L, Wu H, Pei P, Zheng X, Pan H, Bao X, Qi Y, Ma Y
Mol Genet Genomic Med 2022 Jan;10(1):e1844. Epub 2021 Nov 26 doi: 10.1002/mgg3.1844. PMID: 34826210Free 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

Recent clinical studies

Etiology

Bhat M, Natarajan A, Chandra SR, Christropher R, Netravathi M
Neurol India 2022 Jul-Aug;70(4):1554-1561. doi: 10.4103/0028-3886.355099. PMID: 36076658
Anazi S, Maddirevula S, Faqeih E, Alsedairy H, Alzahrani F, Shamseldin HE, Patel N, Hashem M, Ibrahim N, Abdulwahab F, Ewida N, Alsaif HS, Al Sharif H, Alamoudi W, Kentab A, Bashiri FA, Alnaser M, AlWadei AH, Alfadhel M, Eyaid W, Hashem A, Al Asmari A, Saleh MM, AlSaman A, Alhasan KA, Alsughayir M, Al Shammari M, Mahmoud A, Al-Hassnan ZN, Al-Husain M, Osama Khalil R, Abd El Meguid N, Masri A, Ali R, Ben-Omran T, El Fishway P, Hashish A, Ercan Sencicek A, State M, Alazami AM, Salih MA, Altassan N, Arold ST, Abouelhoda M, Wakil SM, Monies D, Shaheen R, Alkuraya FS
Mol Psychiatry 2017 Apr;22(4):615-624. Epub 2016 Jul 19 doi: 10.1038/mp.2016.113. PMID: 27431290
Hu H, Haas SA, Chelly J, Van Esch H, Raynaud M, de Brouwer AP, Weinert S, Froyen G, Frints SG, Laumonnier F, Zemojtel T, Love MI, Richard H, Emde AK, Bienek M, Jensen C, Hambrock M, Fischer U, Langnick C, Feldkamp M, Wissink-Lindhout W, Lebrun N, Castelnau L, Rucci J, Montjean R, Dorseuil O, Billuart P, Stuhlmann T, Shaw M, Corbett MA, Gardner A, Willis-Owen S, Tan C, Friend KL, Belet S, van Roozendaal KE, Jimenez-Pocquet M, Moizard MP, Ronce N, Sun R, O'Keeffe S, Chenna R, van Bömmel A, Göke J, Hackett A, Field M, Christie L, Boyle J, Haan E, Nelson J, Turner G, Baynam G, Gillessen-Kaesbach G, Müller U, Steinberger D, Budny B, Badura-Stronka M, Latos-Bieleńska A, Ousager LB, Wieacker P, Rodríguez Criado G, Bondeson ML, Annerén G, Dufke A, Cohen M, Van Maldergem L, Vincent-Delorme C, Echenne B, Simon-Bouy B, Kleefstra T, Willemsen M, Fryns JP, Devriendt K, Ullmann R, Vingron M, Wrogemann K, Wienker TF, Tzschach A, van Bokhoven H, Gecz J, Jentsch TJ, Chen W, Ropers HH, Kalscheuer VM
Mol Psychiatry 2016 Jan;21(1):133-48. Epub 2015 Feb 3 doi: 10.1038/mp.2014.193. PMID: 25644381Free PMC Article
Jorge P, Oliveira B, Marques I, Santos R
BMC Med Genet 2013 Aug 5;14:80. doi: 10.1186/1471-2350-14-80. PMID: 23914978Free PMC Article
Sutherland GR, Baker E
Clin Genet 2000 Sep;58(3):157-61. doi: 10.1034/j.1399-0004.2000.580301.x. PMID: 11076037

Diagnosis

Bhat M, Natarajan A, Chandra SR, Christropher R, Netravathi M
Neurol India 2022 Jul-Aug;70(4):1554-1561. doi: 10.4103/0028-3886.355099. PMID: 36076658
Liu S, Li L, Wu H, Pei P, Zheng X, Pan H, Bao X, Qi Y, Ma Y
Mol Genet Genomic Med 2022 Jan;10(1):e1844. Epub 2021 Nov 26 doi: 10.1002/mgg3.1844. PMID: 34826210Free 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
Anazi S, Maddirevula S, Faqeih E, Alsedairy H, Alzahrani F, Shamseldin HE, Patel N, Hashem M, Ibrahim N, Abdulwahab F, Ewida N, Alsaif HS, Al Sharif H, Alamoudi W, Kentab A, Bashiri FA, Alnaser M, AlWadei AH, Alfadhel M, Eyaid W, Hashem A, Al Asmari A, Saleh MM, AlSaman A, Alhasan KA, Alsughayir M, Al Shammari M, Mahmoud A, Al-Hassnan ZN, Al-Husain M, Osama Khalil R, Abd El Meguid N, Masri A, Ali R, Ben-Omran T, El Fishway P, Hashish A, Ercan Sencicek A, State M, Alazami AM, Salih MA, Altassan N, Arold ST, Abouelhoda M, Wakil SM, Monies D, Shaheen R, Alkuraya FS
Mol Psychiatry 2017 Apr;22(4):615-624. Epub 2016 Jul 19 doi: 10.1038/mp.2016.113. PMID: 27431290
Jorge P, Oliveira B, Marques I, Santos R
BMC Med Genet 2013 Aug 5;14:80. doi: 10.1186/1471-2350-14-80. PMID: 23914978Free PMC Article

Therapy

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
Refetoff S, Pappa T, Williams MK, Matheus MG, Liao XH, Hansen K, Nicol L, Pierce M, Blasco PA, Wiebers Jensen M, Bernal J, Weiss RE, Dumitrescu AM, LaFranchi S
Thyroid 2021 May;31(5):713-720. Epub 2020 Sep 25 doi: 10.1089/thy.2020.0306. PMID: 32746752Free PMC Article
Żuber Z, Różdżyńska-Świątkowska A, Jurecka A, Tylki-Szymańska A
PLoS One 2014;9(1):e85074. Epub 2014 Jan 13 doi: 10.1371/journal.pone.0085074. PMID: 24454794Free PMC Article
Bambauer R, Schiel R, Cordes H, Latza R
Ther Apher 2000 Oct;4(5):338-41. doi: 10.1046/j.1526-0968.2000.004005338.x. PMID: 11111814
Mossman J, Blunt S, Stephens R, Jones EE, Pembrey M
Arch Dis Child 1983 Nov;58(11):911-5. doi: 10.1136/adc.58.11.911. PMID: 6418082Free PMC Article

Prognosis

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
Iwayama H, Kakita H, Iwasa M, Adachi S, Takano K, Kikuchi M, Fujisawa Y, Osaka H, Yamada Y, Okumura A, Hirani K, Weiss RE, Refetoff S
Thyroid 2021 Sep;31(9):1316-1321. Epub 2021 Jul 2 doi: 10.1089/thy.2020.0696. PMID: 34049438Free 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
Torrico B, Fernàndez-Castillo N, Hervás A, Milà M, Salgado M, Rueda I, Buitelaar JK, Rommelse N, Oerlemans AM, Bralten J, Freitag CM, Reif A, Battaglia A, Mazzone L, Maestrini E, Cormand B, Toma C
Eur J Hum Genet 2015 Dec;23(12):1694-701. Epub 2015 Mar 18 doi: 10.1038/ejhg.2015.37. PMID: 25782667Free PMC Article
Eichler FS, Barker PB, Cox C, Edwin D, Ulug AM, Moser HW, Raymond GV
Neurology 2002 Mar 26;58(6):901-7. doi: 10.1212/wnl.58.6.901. PMID: 11914405

Clinical prediction guides

Bhat M, Natarajan A, Chandra SR, Christropher R, Netravathi M
Neurol India 2022 Jul-Aug;70(4):1554-1561. doi: 10.4103/0028-3886.355099. PMID: 36076658
Gruber R, Scholes S, Bertone A, McKinney RA, Orlowski J, Wise MS
Sleep Med 2022 Jan;89:55-59. Epub 2021 Nov 20 doi: 10.1016/j.sleep.2021.11.007. PMID: 34883399
Jorge P, Oliveira B, Marques I, Santos R
BMC Med Genet 2013 Aug 5;14:80. doi: 10.1186/1471-2350-14-80. PMID: 23914978Free PMC Article
Ravn K, Roende G, Duno M, Fuglsang K, Eiklid KL, Tümer Z, Nielsen JB, Skjeldal OH
Orphanet J Rare Dis 2011 Aug 30;6:58. doi: 10.1186/1750-1172-6-58. PMID: 21878110Free PMC Article
Feigenbaum V, Lombard-Platet G, Guidoux S, Sarde CO, Mandel JL, Aubourg P
Am J Hum Genet 1996 Jun;58(6):1135-44. PMID: 8651290Free PMC Article

Recent systematic reviews

Inuzuka LM, Guerra-Peixe M, Macedo-Souza LI, Pedreira CC, Gurgel-Giannetti J, Monteiro FP, Ramos L, Costa LA, Crippa ACS, Lourenco CM, Pachito DV, Sukys-Claudino L, Gaspar LS, Antoniuk SA, Dutra LPS, Diniz SSL, Pires RB, Garzon E, Kok F
Eur J Paediatr Neurol 2021 Sep;34:7-13. Epub 2021 Jun 21 doi: 10.1016/j.ejpn.2021.05.013. PMID: 34271245

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