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Intellectual disability, X-linked 106(MRX106; XLID106)

MedGen UID:
1389156
Concept ID:
C4478379
Mental or Behavioral Dysfunction
Synonyms: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 106; Mental retardation, X-linked 106
 
Gene (location): OGT (Xq13.1)
 
Monarch Initiative: MONDO:0030907
OMIM®: 300997

Clinical features

From HPO
Cryptorchidism
MedGen UID:
8192
Concept ID:
C0010417
Congenital Abnormality
Cryptorchidism, or failure of testicular descent, is a common human congenital abnormality with a multifactorial etiology that likely reflects the involvement of endocrine, environmental, and hereditary factors. Cryptorchidism can result in infertility and increases risk for testicular tumors. Testicular descent from abdomen to scrotum occurs in 2 distinct phases: the transabdominal phase and the inguinoscrotal phase (summary by Gorlov et al., 2002).
Decreased testicular size
MedGen UID:
66027
Concept ID:
C0241355
Finding
Reduced volume of the testicle (the male gonad).
Hypospadias
MedGen UID:
163083
Concept ID:
C0848558
Congenital Abnormality
Abnormal position of urethral meatus on the ventral penile shaft (underside) characterized by displacement of the urethral meatus from the tip of the glans penis to the ventral surface of the penis, scrotum, or perineum.
Clinodactyly of the 5th finger
MedGen UID:
340456
Concept ID:
C1850049
Congenital Abnormality
Clinodactyly refers to a bending or curvature of the fifth finger in the radial direction (i.e., towards the 4th finger).
Clinodactyly
MedGen UID:
1644094
Concept ID:
C4551485
Congenital Abnormality
An angulation of a digit at an interphalangeal joint in the plane of the palm (finger) or sole (toe).
Bicuspid aortic valve
MedGen UID:
57436
Concept ID:
C0149630
Congenital Abnormality
Aortic valve disease-2 (AOVD2) is characterized by bicuspid aortic valve (BAV) and dilation of the ascending aorta. Calcification of the valve and the aorta has been observed, and some patients exhibit coarctation of the aorta (Tan et al., 2012; Luyckx et al., 2019; Park et al., 2019). For a general phenotypic description and a discussion of genetic heterogeneity of aortic valve disease, see AOVD1 (109730).
Low-set ears
MedGen UID:
65980
Concept ID:
C0239234
Congenital Abnormality
Upper insertion of the ear to the scalp below an imaginary horizontal line drawn between the inner canthi of the eye and extending posteriorly to the ear.
Global developmental delay
MedGen UID:
107838
Concept ID:
C0557874
Finding
A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of 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.
Microcephaly
MedGen UID:
1644158
Concept ID:
C4551563
Finding
Head circumference below 2 standard deviations below the mean for age and gender.
Open mouth
MedGen UID:
116104
Concept ID:
C0240379
Finding
A facial appearance characterized by a permanently or nearly permanently opened mouth.
Thick vermilion border
MedGen UID:
332232
Concept ID:
C1836543
Finding
Increased width of the skin of vermilion border region of upper lip.
Thin upper lip vermilion
MedGen UID:
355352
Concept ID:
C1865017
Finding
Height of the vermilion of the upper lip in the midline more than 2 SD below the mean. Alternatively, an apparently reduced height of the vermilion of the upper lip in the frontal view (subjective).
Synophrys
MedGen UID:
98132
Concept ID:
C0431447
Congenital Abnormality
Meeting of the medial eyebrows in the midline.
Frontal upsweep of hair
MedGen UID:
452910
Concept ID:
C1185616
Finding
Upward and/or sideward growth of anterior hair.
Amblyopia
MedGen UID:
8009
Concept ID:
C0002418
Disease or Syndrome
Reduced visual acuity that is uncorrectable by lenses in the absence of detectable anatomic defects in the eye or visual pathways.
Hypertelorism
MedGen UID:
9373
Concept ID:
C0020534
Finding
Although hypertelorism means an excessive distance between any paired organs (e.g., the nipples), the use of the word has come to be confined to ocular hypertelorism. Hypertelorism occurs as an isolated feature and is also a feature of many syndromes, e.g., Opitz G syndrome (see 300000), Greig cephalopolysyndactyly (175700), and Noonan syndrome (163950) (summary by Cohen et al., 1995).
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.
Hyperopia, high
MedGen UID:
341009
Concept ID:
C1855925
Finding
A severe form of hypermetropia with over +5.00 diopters.

Professional guidelines

PubMed

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
Cheng H, Du C, Zhang Y, James AF, Dempsey CE, Abdala AP, Hancox JC
J Mol Cell Cardiol 2019 Oct;135:22-30. Epub 2019 Jul 27 doi: 10.1016/j.yjmcc.2019.07.012. PMID: 31362019Free PMC Article
Shimozawa N, Honda A, Kajiwara N, Kozawa S, Nagase T, Takemoto Y, Suzuki Y
J Hum Genet 2011 Feb;56(2):106-9. Epub 2010 Nov 11 doi: 10.1038/jhg.2010.139. PMID: 21068741

Recent clinical studies

Etiology

Cheng H, Du C, Zhang Y, James AF, Dempsey CE, Abdala AP, Hancox JC
J Mol Cell Cardiol 2019 Oct;135:22-30. Epub 2019 Jul 27 doi: 10.1016/j.yjmcc.2019.07.012. PMID: 31362019Free PMC Article
Afroze B, Chaudhry B
J Pak Med Assoc 2013 Jan;63(1):106-10. PMID: 23865144
Rockenbach FJ, Deon M, Marchese DP, Manfredini V, Mescka C, Ribas GS, Habekost CT, Castro CG Jr, Jardim LB, Vargas CR
Mol Genet Metab 2012 Jun;106(2):231-6. Epub 2012 Apr 3 doi: 10.1016/j.ymgme.2012.03.019. PMID: 22525090
Shimozawa N, Honda A, Kajiwara N, Kozawa S, Nagase T, Takemoto Y, Suzuki Y
J Hum Genet 2011 Feb;56(2):106-9. Epub 2010 Nov 11 doi: 10.1038/jhg.2010.139. PMID: 21068741
Goldstein DS, Holmes CS, Kaler SG
Neurochem Res 2009 Aug;34(8):1464-8. Epub 2009 Feb 21 doi: 10.1007/s11064-009-9933-8. PMID: 19234788Free PMC Article

Diagnosis

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
Boniel S, Szymańska K, Śmigiel R, Szczałuba K
Genes (Basel) 2021 Mar 25;12(4) doi: 10.3390/genes12040468. PMID: 33805950Free PMC Article
Redin C, Gérard B, Lauer J, Herenger Y, Muller J, Quartier A, Masurel-Paulet A, Willems M, Lesca G, El-Chehadeh S, Le Gras S, Vicaire S, Philipps M, Dumas M, Geoffroy V, Feger C, Haumesser N, Alembik Y, Barth M, Bonneau D, Colin E, Dollfus H, Doray B, Delrue MA, Drouin-Garraud V, Flori E, Fradin M, Francannet C, Goldenberg A, Lumbroso S, Mathieu-Dramard M, Martin-Coignard D, Lacombe D, Morin G, Polge A, Sukno S, Thauvin-Robinet C, Thevenon J, Doco-Fenzy M, Genevieve D, Sarda P, Edery P, Isidor B, Jost B, Olivier-Faivre L, Mandel JL, Piton A
J Med Genet 2014 Nov;51(11):724-36. Epub 2014 Aug 28 doi: 10.1136/jmedgenet-2014-102554. PMID: 25167861Free PMC Article
Shimozawa N, Honda A, Kajiwara N, Kozawa S, Nagase T, Takemoto Y, Suzuki Y
J Hum Genet 2011 Feb;56(2):106-9. Epub 2010 Nov 11 doi: 10.1038/jhg.2010.139. PMID: 21068741
Goldstein DS, Holmes CS, Kaler SG
Neurochem Res 2009 Aug;34(8):1464-8. Epub 2009 Feb 21 doi: 10.1007/s11064-009-9933-8. PMID: 19234788Free PMC Article

Therapy

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
van Geel BM, Assies J, Haverkort EB, Koelman JH, Verbeeten B Jr, Wanders RJ, Barth PG
J Neurol Neurosurg Psychiatry 1999 Sep;67(3):290-9. doi: 10.1136/jnnp.67.3.290. PMID: 10449548Free PMC Article

Prognosis

Shimozawa N, Honda A, Kajiwara N, Kozawa S, Nagase T, Takemoto Y, Suzuki Y
J Hum Genet 2011 Feb;56(2):106-9. Epub 2010 Nov 11 doi: 10.1038/jhg.2010.139. PMID: 21068741

Clinical prediction guides

Pehlivan D, Aras S, Glaze DG, Ak M, Suter B, Motil KJ
Orphanet J Rare Dis 2024 Feb 9;19(1):52. doi: 10.1186/s13023-024-03022-2. PMID: 38331915Free PMC Article
Nguyen TA, Wu K, Pandey S, Lehr AW, Li Y, Bemben MA, Badger JD 2nd, Lauzon JL, Wang T, Zaghloul KA, Thurm A, Jain M, Lu W, Roche KW
Neuron 2020 Jun 3;106(5):759-768.e7. Epub 2020 Apr 2 doi: 10.1016/j.neuron.2020.03.008. PMID: 32243781Free PMC Article
Tews D, Fromme T, Keuper M, Hofmann SM, Debatin KM, Klingenspor M, Wabitsch M, Fischer-Posovszky P
Mol Cell Endocrinol 2017 Mar 5;443:106-113. Epub 2017 Jan 11 doi: 10.1016/j.mce.2017.01.015. PMID: 28088466
Friso A, Tomanin R, Alba S, Gasparotto N, Puicher EP, Fusco M, Hortelano G, Muenzer J, Marin O, Zacchello F, Scarpa M
J Gene Med 2005 Nov;7(11):1482-91. doi: 10.1002/jgm.790. PMID: 15966019
van Geel BM, Assies J, Haverkort EB, Koelman JH, Verbeeten B Jr, Wanders RJ, Barth PG
J Neurol Neurosurg Psychiatry 1999 Sep;67(3):290-9. doi: 10.1136/jnnp.67.3.290. PMID: 10449548Free PMC Article

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