Details of Disease

General Information of Disease (ID: DISYJBY3)

Disease Name X-linked intellectual disability
Synonyms X-linked intellectual disability
Definition An X-linked intellectual deficiency in which not enough information is known, reported or published to indicate whether a gene causes non-syndromic or syndromic presentations.
Disease Hierarchy
DISD715V: Hereditary neurological disease
DISMBNXP: Intellectual disability
DIS3PN9X: X-linked disease
DISYJBY3: X-linked intellectual disability
Disease Identifiers
MONDO ID
MONDO_0100284
MESH ID
D038901
UMLS CUI
C1136249
MedGen ID
211749

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 63 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
USP27X OT9LZUX6 Limited X-linked [1]
ZNF674 OTP3A2A8 Disputed X-linked [1]
ZNF81 OT55BMLW Disputed X-linked [1]
ARHGAP1 OT0H2ZBZ Limited Genetic Variation [24]
ATP6AP2 OT0IABVV Limited Genetic Variation [25]
OCRL OTQ3L42N Limited Genetic Variation [24]
PAMR1 OT83ZH5U Limited Biomarker [2]
SMARCA1 OT0Y6PTU Limited X-linked [1]
GDI1 OTYM3928 Disputed Biomarker [8]
MAGT1 OTQSAV5C Disputed X-linked [1]
PCDH19 OTSOW3MV Disputed Biomarker [26]
ARHGEF6 OTN1ABGL moderate Biomarker [27]
ARHGEF9 OTB1FLIW moderate Biomarker [28]
DIPK2B OT6MK0VT moderate Genetic Variation [29]
AFF2 OTMF1PZW Strong Biomarker [30]
AP1S2 OTZHJFYI Strong Genetic Variation [31]
ATRX OT77RSQW Strong Genetic Variation [32]
BRWD3 OT3BM9B0 Strong Biomarker [33]
CACUL1 OT6P1ZVP Strong Genetic Variation [34]
CASK OT8EF7ZF Strong Biomarker [35]
CUL4B OT2QX4DO Strong Genetic Variation [34]
DLG3 OTH591WK Strong Biomarker [36]
FGD1 OTV3T64P Strong Genetic Variation [37]
FMR1 OTWEV0T5 Strong Biomarker [38]
FTSJ1 OTNE7W96 Strong Genetic Variation [39]
HUWE1 OTFH6BJS Strong Genetic Variation [23]
IL1RAPL1 OTW3T4B2 Strong Biomarker [40]
IL1RAPL2 OTP7IOJO Strong Genetic Variation [36]
IQSEC2 OTYFRM4Q Strong Genetic Variation [41]
MBD2 OTUQPP0R Strong Biomarker [42]
MED12 OTQZ4D2X Strong Posttranslational Modification [43]
MID2 OTAAQNZA Strong Genetic Variation [44]
NEXMIF OT576F40 Strong Biomarker [45]
OLIG2 OTMCN6D3 Strong Biomarker [46]
PAK3 OT80M3BV Strong Genetic Variation [47]
PHF6 OT8DXI40 Strong Genetic Variation [48]
PHOX2A OTVS3R2X Strong Genetic Variation [49]
PQBP1 OTXCBEAH Strong Biomarker [50]
PTCHD1 OTFDLU5S Strong Biomarker [51]
RAB39B OTDCLLT0 Strong Biomarker [52]
RCOR1 OTREADPC Strong Genetic Variation [43]
REST OTLL92LQ Strong Biomarker [43]
SHROOM4 OT33GO6E Strong Genetic Variation [53]
SMS OT8JYKNH Strong Genetic Variation [54]
SOX3 OT1CRCOB Strong Biomarker [55]
SYP OTFJKMO4 Strong Biomarker [56]
ACSL4 OTI71MUJ Definitive Genetic Variation [36]
CHD3 OTDBU4F3 Definitive Genetic Variation [57]
CLCN4 OT4A2UWF Definitive Genetic Variation [58]
GPHN OTAKK1SV Definitive Genetic Variation [28]
HCFC1 OT0UCK62 Definitive X-linked [1]
IL17RB OT0KDNSF Definitive Genetic Variation [59]
MAGED2 OTMEWNSE Definitive Altered Expression [60]
NCS1 OT6JHAWM Definitive Biomarker [17]
NLGN4X OTDJGBK8 Definitive Genetic Variation [61]
PJA1 OTFKTMEI Definitive Biomarker [62]
POU3F4 OTKF5AF7 Definitive Biomarker [63]
RAB40AL OTZWO8A5 Definitive Biomarker [64]
RBBP7 OTLB56HX Definitive Biomarker [65]
SYN1 OTMNPWC1 Definitive Biomarker [66]
THOC2 OTNXE5G2 Definitive Genetic Variation [67]
TMEM185A OTX1JIEM Definitive Biomarker [68]
TMEM47 OTAJ4CPX Definitive Genetic Variation [69]
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⏷ Show the Full List of 63 DOT(s)
This Disease Is Related to 19 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
DTL TT8396I Limited Biomarker [2]
IL1RAP TTWS50K Limited Genetic Variation [3]
OPHN1 TTU7HRD Limited Biomarker [4]
TSPAN7 TTMT6VE Disputed Biomarker [5]
AGTR2 TTQVOEI moderate Genetic Variation [6]
ATR TT8ZYBQ moderate Genetic Variation [7]
CHM TTOA18V Strong Altered Expression [8]
F9 TTFEZ5Q Strong Genetic Variation [9]
GRIA3 TT82EZV Strong Genetic Variation [10]
L1CAM TTC9D3K Strong Genetic Variation [11]
MAOA TT3WG5C Strong Biomarker [12]
PHF8 TT81PFE Strong Genetic Variation [13]
RPS6KA3 TTUM2ZR Strong Genetic Variation [14]
RPS6KA6 TT3KYWB Strong Genetic Variation [15]
SLC6A8 TTYUHB5 Strong Biomarker [16]
IL18RAP TTZUJVE Definitive Biomarker [17]
KDM7A TT0NYMP Definitive Genetic Variation [13]
PLP2 TTK5OG6 Definitive Genetic Variation [18]
WNK3 TTI7FDX Definitive Genetic Variation [19]
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⏷ Show the Full List of 19 DTT(s)
This Disease Is Related to 3 DTP Molecule(s)
Gene Name DTP ID Evidence Level Mode of Inheritance REF
MAGT1 DTKLJT4 Disputed X-linked [1]
SLC16A2 DTQ8MP1 Strong Genetic Variation [20]
SLC9A6 DTN0JXW Strong Genetic Variation [21]
------------------------------------------------------------------------------------
This Disease Is Related to 2 DME Molecule(s)
Gene Name DME ID Evidence Level Mode of Inheritance REF
ALAS2 DE437BY Strong Genetic Variation [22]
HSD17B10 DEGSPC9 Strong Biomarker [23]
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References

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23 Submicroscopic duplications of the hydroxysteroid dehydrogenase HSD17B10 and the E3 ubiquitin ligase HUWE1 are associated with mental retardation. Am J Hum Genet. 2008 Feb;82(2):432-43. doi: 10.1016/j.ajhg.2007.11.002. Epub 2008 Jan 24.
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28 Collybistin splice variants differentially interact with gephyrin and Cdc42 to regulate gephyrin clustering at GABAergic synapses.J Cell Sci. 2011 Aug 15;124(Pt 16):2786-96. doi: 10.1242/jcs.086199.
29 DIA1R is an X-linked gene related to Deleted In Autism-1.PLoS One. 2011 Jan 17;6(1):e14534. doi: 10.1371/journal.pone.0014534.
30 Fragile XE-associated familial mental retardation protein 2 (FMR2) acts as a potent transcription activator.J Hum Genet. 2001;46(5):251-9. doi: 10.1007/s100380170074.
31 A novel splice site mutation in AP1S2 gene for X-linked mental retardation in a Chinese pedigree and literature review.Brain Behav. 2019 Mar;9(3):e01221. doi: 10.1002/brb3.1221. Epub 2019 Feb 4.
32 Functional significance of mutations in the Snf2 domain of ATRX.Hum Mol Genet. 2011 Jul 1;20(13):2603-10. doi: 10.1093/hmg/ddr163. Epub 2011 Apr 19.
33 Mutations in the BRWD3 gene cause X-linked mental retardation associated with macrocephaly. Am J Hum Genet. 2007 Aug;81(2):367-74. doi: 10.1086/520677. Epub 2007 Jun 26.
34 Lack of Cul4b, an E3 ubiquitin ligase component, leads to embryonic lethality and abnormal placental development.PLoS One. 2012;7(5):e37070. doi: 10.1371/journal.pone.0037070. Epub 2012 May 14.
35 Calcium/calmodulin-dependent serine protein kinase (CASK), a protein implicated in mental retardation and autism-spectrum disorders, interacts with T-Brain-1 (TBR1) to control extinction of associative memory in male mice.J Psychiatry Neurosci. 2017 Jan;42(1):37-47. doi: 10.1503/jpn.150359.
36 Fine mapping of Xq11.1-q21.33 and mutation screening of RPS6KA6, ZNF711, ACSL4, DLG3, and IL1RAPL2 for autism spectrum disorders (ASD).Autism Res. 2011 Jun;4(3):228-33. doi: 10.1002/aur.187. Epub 2011 Feb 22.
37 Non-syndromic X-linked mental retardation associated with a missense mutation (P312L) in the FGD1 gene.Clin Genet. 2002 Feb;61(2):139-45. doi: 10.1034/j.1399-0004.2002.610209.x.
38 The ARX mutations: a frequent cause of X-linked mental retardation.Am J Med Genet A. 2006 Apr 1;140(7):727-32. doi: 10.1002/ajmg.a.31151.
39 Positive association of the FTSJ1 gene polymorphisms with nonsyndromic X-linked mental retardation in young Chinese male subjects.J Hum Genet. 2008;53(7):592-597. doi: 10.1007/s10038-008-0287-x. Epub 2008 Apr 10.
40 IL1RAPL1 associated with mental retardation and autism regulates the formation and stabilization of glutamatergic synapses of cortical neurons through RhoA signaling pathway.PLoS One. 2013 Jun 13;8(6):e66254. doi: 10.1371/journal.pone.0066254. Print 2013.
41 Genotype-phenotype correlation: Inheritance and variant-type infer pathogenicity in IQSEC2 gene. Eur J Med Genet. 2020 Mar;63(3):103735. doi: 10.1016/j.ejmg.2019.103735. Epub 2019 Aug 12.
42 Stabilization of histone demethylase PHF8 by USP7 promotes breast carcinogenesis.J Clin Invest. 2016 Jun 1;126(6):2205-20. doi: 10.1172/JCI85747. Epub 2016 May 16.
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44 Targeted deep resequencing identifies MID2 mutation for X-linked intellectual disability with varied disease severity in a large kindred from India. Hum Mutat. 2014 Jan;35(1):41-4. doi: 10.1002/humu.22453. Epub 2013 Oct 21.
45 Disruption of a new X linked gene highly expressed in brain in a family with two mentally retarded males. J Med Genet. 2004 Oct;41(10):736-42. doi: 10.1136/jmg.2004.021626.
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49 Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsy. Nat Genet. 2002 Apr;30(4):441-5. doi: 10.1038/ng862. Epub 2002 Mar 11.
50 A restricted level of PQBP1 is needed for the best longevity of Drosophila.Neurobiol Aging. 2013 Jan;34(1):356.e11-20. doi: 10.1016/j.neurobiolaging.2012.07.015. Epub 2012 Aug 15.
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52 Mutations in the small GTPase gene RAB39B are responsible for X-linked mental retardation associated with autism, epilepsy, and macrocephaly. Am J Hum Genet. 2010 Feb 12;86(2):185-95. doi: 10.1016/j.ajhg.2010.01.011.
53 Disruptions of the novel KIAA1202 gene are associated with X-linked mental retardation. Hum Genet. 2006 Jan;118(5):578-90. doi: 10.1007/s00439-005-0072-2. Epub 2005 Oct 26.
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