AUTSX2
MCID: ATS366
MIFTS: 42

Autism X-Linked 2 (AUTSX2)

Categories: Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Autism X-Linked 2

MalaCards integrated aliases for Autism X-Linked 2:

Name: Autism X-Linked 2 56
Mental Retardation, X-Linked 56 29 13 39 71
Autism, Susceptibility to, X-Linked 2 56 29 6
Autism Susceptibility, X-Linked 2 56 29
X-Linked Mental Retardation 74 36
Autsx2 56 73
Autism, X-Linked 2 73

Characteristics:

OMIM:

56
Inheritance:
isolated cases
multifactorial
x-linked

Miscellaneous:
genetic heterogeneity (see )
onset by 3 years of age
male to female ratio 4:1
occurs in 2-5 per 10,000 individuals
associated with tuberous sclerosis
associated with untreated phenylketonuria


HPO:

31
autism x-linked 2:
Inheritance x-linked inheritance multifactorial inheritance heterogeneous sporadic
Onset and clinical course childhood onset


Classifications:



Summaries for Autism X-Linked 2

OMIM : 56 Autism, the prototypic pervasive developmental disorder (PDD), is usually apparent by 3 years of age. It is characterized by a triad of limited or absent verbal communication, a lack of reciprocal social interaction or responsiveness, and restricted, stereotypic, and ritualized patterns of interests and behavior (Bailey et al., 1996; Risch et al., 1999). 'Autism spectrum disorder,' sometimes referred to as ASD, is a broader phenotype encompassing the less severe disorders Asperger syndrome (see ASPG1; 608638) and pervasive developmental disorder, not otherwise specified (PDD-NOS). 'Broad autism phenotype' includes individuals with some symptoms of autism, but who do not meet the full criteria for autism or other disorders. Mental retardation coexists in approximately two-thirds of individuals with ASD, except for Asperger syndrome, in which mental retardation is conspicuously absent (Jones et al., 2008). Genetic studies in autism often include family members with these less stringent diagnoses (Schellenberg et al., 2006). For a discussion of genetic heterogeneity of autism, see 209850. (300495)

MalaCards based summary : Autism X-Linked 2, also known as mental retardation, x-linked, is related to mental retardation, x-linked, with or without seizures, arx-related and mental retardation, x-linked, syndromic 13. An important gene associated with Autism X-Linked 2 is NLGN4X (Neuroligin 4 X-Linked), and among its related pathways/superpathways is Regulation of actin cytoskeleton. The drugs Lovastatin and Hypolipidemic Agents have been mentioned in the context of this disorder. Affiliated tissues include brain, eye and lung, and related phenotypes are seizures and eeg abnormality

KEGG : 36 X-linked mental retardation (XLMR) is an inherited condition that causes failure to develop cognitive abilities because of mutations in several genes on the X chromosome. XLMR is subdivided into syndromic and non-syndromic forms (NS-XLMR), depending on whether further abnormalities are found on physical examination, laboratory investigation and brain imaging. The majority of genes that are mutated in NS-XLMR encode proteins are involved in three distinct pathways: Rho GTPases pathway modulating neuronal differentiation and synaptic plasticity; Rab GTPases pathway regulating synaptic vesicle cycling; gene expression regulation.

UniProtKB/Swiss-Prot : 73 Autism, X-linked 2: A complex multifactorial, pervasive developmental disorder characterized by impairments in reciprocal social interaction and communication, restricted and stereotyped patterns of interests and activities, and the presence of developmental abnormalities by 3 years of age. Most individuals with autism also manifest moderate mental retardation.

Wikipedia : 74 X-linked intellectual disability (previously known as X-linked mental retardation) refers to forms of... more...

Related Diseases for Autism X-Linked 2

Diseases in the Autism X-Linked 2 family:

Autism X-Linked 1 Autism X-Linked 3
Autism X-Linked 4 Autism X-Linked 5
Autism X-Linked 6

Diseases related to Autism X-Linked 2 via text searches within MalaCards or GeneCards Suite gene sharing:

(showing 275, show less)
# Related Disease Score Top Affiliating Genes
1 mental retardation, x-linked, with or without seizures, arx-related 13.1
2 mental retardation, x-linked, syndromic 13 12.9
3 mental retardation, x-linked, syndromic, cabezas type 12.9
4 mental retardation, x-linked 92 12.9
5 mental retardation, x-linked, syndromic, turner type 12.9
6 mental retardation, x-linked 12 12.9
7 mental retardation, x-linked, with cerebellar hypoplasia and distinctive facial appearance 12.9
8 mental retardation, x-linked, with panhypopituitarism 12.8
9 mental retardation, x-linked, syndromic, hedera type 12.8
10 mental retardation, x-linked, syndromic, wu type 12.8
11 mental retardation, x-linked, syndromic, nascimento type 12.8
12 mental retardation, x-linked, syndromic, claes-jensen type 12.8
13 mental retardation, x-linked, syndromic, raymond type 12.8
14 mental retardation, x-linked 97 12.8
15 mental retardation, x-linked, syndromic 32 12.8
16 mental retardation, x-linked, syndromic 34 12.8
17 mental retardation, x-linked, syndromic, martin-probst type 12.8
18 mental retardation, x-linked 96 12.8
19 mental retardation, x-linked 21 12.8
20 mental retardation, x-linked, syndromic, christianson type 12.8
21 mental retardation, x-linked 98 12.8
22 mental retardation, x-linked 99 12.8
23 mental retardation, x-linked 100 12.8
24 mental retardation, x-linked 101 12.8
25 mental retardation, x-linked 102 12.8
26 mental retardation, x-linked, syndromic 33 12.8
27 mental retardation, x-linked, syndromic, 35 12.8
28 mental retardation, x-linked 107 12.8
29 mental retardation, x-linked 99, syndromic, female-restricted 12.8
30 mental retardation, x-linked 103 12.8
31 mental retardation, x-linked 104 12.8
32 mental retardation, x-linked 105 12.8
33 mental retardation, x-linked, syndromic, bain type 12.8
34 mental retardation, x-linked 106 12.8
35 mental retardation, x-linked, syndromic, houge type 12.8
36 mental retardation, x-linked, associated with fragile site fraxe 12.8
37 mental retardation, x-linked, syndromic 17 12.6
38 mental retardation, x-linked, syndromic, chudley-schwartz type 12.6
39 mental retardation, x-linked, syndromic, snyder-robinson type 12.6
40 mental retardation, x-linked, with craniofacial dysmorphism 12.6
41 mental retardation, x-linked, syndromic 9 12.6
42 mental retardation, x-linked 23 12.5
43 mental retardation, x-linked 50 12.5
44 mental retardation, x-linked 53 12.5
45 mental retardation, x-linked 42 12.5
46 mental retardation, x-linked 73 12.5
47 syndromic x-linked mental retardation hough type 12.5
48 lubs x-linked mental retardation syndrome 12.3
49 wilson-turner x-linked mental retardation syndrome 12.3
50 methylmalonic acidemia and homocysteinemia, cblx type 12.3
51 mental retardation and microcephaly with pontine and cerebellar hypoplasia 12.2
52 basilicata-akhtar syndrome 12.2
53 stocco dos santos x-linked mental retardation syndrome 12.2
54 corpus callosum, agenesis of, with mental retardation, ocular coloboma, and micrognathia 12.2
55 fragile x syndrome 12.1
56 partington x-linked mental retardation syndrome 12.1
57 pettigrew syndrome 12.1
58 rolandic epilepsy, mental retardation, and speech dyspraxia, x-linked 12.0
59 x-linked intellectual disability, siderius type 12.0
60 renpenning syndrome 1 12.0
61 coffin-lowry syndrome 11.9
62 mehmo syndrome 11.9
63 lujan-fryns syndrome 11.9
64 raynaud-claes syndrome 11.9
65 chromosome xp11.22 duplication syndrome 11.8
66 tonne-kalscheuer syndrome 11.8
67 wieacker-wolff syndrome 11.8
68 russell-silver syndrome, x-linked 11.8
69 non-syndromic x-linked intellectual disability 11.8
70 alpha-thalassemia/mental retardation syndrome, x-linked 11.8
71 lujan syndrome 11.8
72 cerebral creatine deficiency syndrome 1 11.7
73 arts syndrome 11.7
74 prieto x-linked mental retardation syndrome 11.7
75 christianson syndrome 11.7
76 epileptic encephalopathy, early infantile, 8 11.7
77 abidi x-linked mental retardation syndrome 11.7
78 hsd10 mitochondrial disease 11.7
79 paganini-miozzo syndrome 11.7
80 van esch-o'driscoll syndrome 11.7
81 syndromic x-linked intellectual disability snyder type 11.7
82 syndromic x-linked intellectual disability cabezas type 11.7
83 syndromic x-linked intellectual disability shashi type 11.7
84 allan-herndon-dudley syndrome 11.6
85 ck syndrome 11.6
86 intellectual developmental disorder, x-linked 108 11.6
87 borjeson-forssman-lehmann syndrome 11.6
88 syndromic x-linked intellectual disability turner type 11.6
89 miles-carpenter syndrome 11.6
90 corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome 11.6
91 syndromic x-linked intellectual disability raymond type 11.6
92 alpha thalassemia-x-linked intellectual disability syndrome 11.6
93 armfield x-linked mental retardation syndrome 11.4
94 chromosome xp11.3 deletion syndrome 11.4
95 mental retardation with optic atrophy, deafness, and seizures 11.4
96 mental retardation-hypotonic facies syndrome, x-linked, 1 11.4
97 schimke x-linked mental retardation syndrome 11.4
98 syndromic x-linked intellectual disability 7 11.4
99 syndromic x-linked intellectual disability type 10 11.4
100 syndromic x-linked intellectual disability siderius type 11.4
101 syndromic x-linked intellectual disability abidi type 11.4
102 syndromic x-linked intellectual disability nascimento type 11.4
103 tranebjaerg svejgaard syndrome 11.4
104 x-linked intellectual disability, abidi type 11.4
105 x-linked intellectual disability, schimke type 11.4
106 corpus callosum, agenesis of, with abnormal genitalia 11.4
107 encephalopathy, neonatal severe, due to mecp2 mutations 11.4
108 mental retardation smith fineman myers type 11.4
109 renier gabreels jasper syndrome 11.4
110 microcephaly 10.7
111 craniosynostosis with fibular aplasia 10.5
112 mecp2 disorders 10.4
113 cerebellar hypoplasia 10.4
114 hypogonadism 10.4
115 hypogonadotropism 10.4
116 tremor 10.4
117 cleft palate, isolated 10.4
118 rett syndrome 10.4
119 branchiootic syndrome 1 10.4
120 alacrima, achalasia, and mental retardation syndrome 10.4
121 west syndrome 10.4
122 visual epilepsy 10.4
123 seizure disorder 10.4
124 spasticity 10.4
125 hypertelorism 10.3
126 autism 10.3
127 clark-baraitser syndrome 10.3
128 alpha-thalassemia 10.3
129 thalassemia 10.3
130 hydrocephalus 10.3
131 dystonia 10.3
132 cleft lip 10.3
133 chromosome 2q35 duplication syndrome 10.2
134 cryptorchidism, unilateral or bilateral 10.2
135 atkin-flaitz syndrome 10.2
136 masa syndrome 10.2
137 ataxia and polyneuropathy, adult-onset 10.2
138 autism spectrum disorder 10.2
139 spastic diplegia 10.2
140 epilepsy 10.2
141 47,xyy 10.2
142 creatine deficiency syndromes 10.2
143 med12-related disorders 10.2
144 growth hormone deficiency 10.2
145 x-linked intellectual disability, turner type 10.2
146 angelman syndrome 10.2
147 major affective disorder 1 10.2
148 pectus excavatum 10.2
149 down syndrome 10.2
150 dandy-walker syndrome 10.2
151 opitz-kaveggia syndrome 10.2
152 macrostomia, isolated 10.2
153 brachydactyly 10.2
154 pervasive developmental disorder 10.2
155 aphasia 10.2
156 apraxia 10.2
157 hyperekplexia 10.2
158 isolated growth hormone deficiency 10.2
159 monocular esotropia 10.2
160 agammaglobulinemia 10.2
161 paraplegia 10.2
162 basal ganglia disease 10.2
163 muscular atrophy 10.2
164 esotropia 10.2
165 cleft lip/palate 10.2
166 alzheimer disease 10.0
167 atrial septal defect 1 10.0
168 epicanthus 10.0
169 hair whorl 10.0
170 huntington disease 10.0
171 marfan syndrome 10.0
172 meckel diverticulum 10.0
173 osteoporosis 10.0
174 polydactyly, postaxial, type a1 10.0
175 greig cephalopolysyndactyly syndrome 10.0
176 prader-willi syndrome 10.0
177 strabismus 10.0
178 wolf-hirschhorn syndrome 10.0
179 corpus callosum, agenesis of 10.0
180 fryns syndrome 10.0
181 3-methylglutaconic aciduria, type iii 10.0
182 periventricular nodular heterotopia 1 10.0
183 amme complex 10.0
184 body mass index quantitative trait locus 11 10.0
185 chromosome xq28 duplication syndrome 10.0
186 choroideremia 10.0
187 choroideremia, deafness, and mental retardation 10.0
188 deafness, x-linked 2 10.0
189 aarskog-scott syndrome 10.0
190 epileptic encephalopathy, early infantile, 1 10.0
191 mental retardation and psoriasis 10.0
192 mucopolysaccharidosis, type ii 10.0
193 paine syndrome 10.0
194 pelizaeus-merzbacher disease 10.0
195 simpson-golabi-behmel syndrome, type 1 10.0
196 yemenite deaf-blind hypopigmentation syndrome 10.0
197 polydactyly 10.0
198 bone mineral density quantitative trait locus 8 10.0
199 major affective disorder 8 10.0
200 major affective disorder 9 10.0
201 bone mineral density quantitative trait locus 15 10.0
202 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.0
203 brown syndrome 10.0
204 polymicrogyria with or without vascular-type ehlers-danlos syndrome 10.0
205 lissencephaly 10.0
206 periventricular nodular heterotopia 10.0
207 focal dystonia 10.0
208 focal hand dystonia 10.0
209 hereditary ataxia 10.0
210 basal ganglia calcification 10.0
211 sclerocornea 10.0
212 inguinal hernia 10.0
213 syndromic x-linked intellectual disability 14 10.0
214 blepharophimosis 10.0
215 chronic tic disorder 10.0
216 alport syndrome 10.0
217 hydronephrosis 10.0
218 alternating exotropia 10.0
219 exotropia 10.0
220 myopia 10.0
221 oligohydramnios 10.0
222 entropion 10.0
223 telangiectasis 10.0
224 dementia 10.0
225 keratosis 10.0
226 heart septal defect 10.0
227 status epilepticus 10.0
228 atrial heart septal defect 10.0
229 constipation 10.0
230 neuroaxonal dystrophy 10.0
231 acromegaly 10.0
232 tic disorder 10.0
233 early myoclonic encephalopathy 10.0
234 bipolar disorder 10.0
235 lung squamous cell carcinoma 10.0
236 mutism 10.0
237 pustulosis of palm and sole 10.0
238 essential tremor 10.0
239 infertility 10.0
240 skin tag 10.0
241 b-cell lymphoma 10.0
242 cataract 10.0
243 fundus dystrophy 10.0
244 psoriasis 10.0
245 learning disability 10.0
246 achalasia 10.0
247 mechanical strabismus 10.0
248 pathologic nystagmus 10.0
249 alopecia 10.0
250 bcl11a-related intellectual disability 10.0
251 ezh2-related overgrowth 10.0
252 flna-related periventricular nodular heterotopia 10.0
253 hypermobile ehlers-danlos syndrome 10.0
254 nsdhl-related disorders 10.0
255 polymicrogyria 10.0
256 xq28 duplication syndrome, int22h1/int22h2 mediated 10.0
257 47, xxy 10.0
258 bullous dystrophy hereditary macular type 10.0
259 dwarfism 10.0
260 epilepsy with myoclonic-atonic seizures 10.0
261 pachygyria 10.0
262 autonomic dysfunction 10.0
263 developmental dyspraxia 10.0
264 encephalopathy 10.0
265 hypertonia 10.0
266 hypotonia 10.0
267 posttransplant acute limbic encephalitis 10.0
268 x-linked intellectual disability with marfanoid habitus 10.0
269 x-linked intellectual disability-epilepsy syndrome 10.0
270 specific language disorder 10.0
271 xp22.13p22.2 duplication syndrome 10.0
272 inherited retinal disorder 10.0
273 alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome 10.0
274 overgrowth syndrome 10.0
275 multiple congenital anomalies/dysmorphic syndrome-intellectual disability 10.0

Graphical network of the top 20 diseases related to Autism X-Linked 2:



Diseases related to Autism X-Linked 2

Symptoms & Phenotypes for Autism X-Linked 2

Human phenotypes related to Autism X-Linked 2:

31 (showing 12, show less)
# Description HPO Frequency HPO Source Accession
1 seizures 31 frequent (33%) HP:0001250
2 eeg abnormality 31 frequent (33%) HP:0002353
3 increased serum serotonin 31 frequent (33%) HP:0003144
4 intellectual disability 31 HP:0001249
5 delayed speech and language development 31 HP:0000750
6 stereotypy 31 HP:0000733
7 autism 31 HP:0000717
8 impaired use of nonverbal behaviors 31 HP:0000758
9 lack of peer relationships 31 HP:0002332
10 restrictive behavior 31 HP:0000723
11 lack of spontaneous play 31 HP:0000721
12 inflexible adherence to routines or rituals 31 HP:0000732

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
lack of peer relationships
lack of spontaneous play
inflexible adherence to routines or rituals
mental retardation in 75%
seizures in 15-30%
more
Laboratory Abnormalities:
increased serum serotonin in 25%

Clinical features from OMIM:

300495

Drugs & Therapeutics for Autism X-Linked 2

Drugs for Autism X-Linked 2 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(showing 14, show less)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Lovastatin Approved, Investigational Phase 4 75330-75-5 53232
2 Hypolipidemic Agents Phase 4
3 Anticholesteremic Agents Phase 4
4 L 647318 Phase 4
5 Dihydromevinolin Phase 4
6 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 4
7 Antimetabolites Phase 4
8 Lipid Regulating Agents Phase 4
9
Metformin Approved Phase 2, Phase 3 657-24-9 4091 14219
10 Hypoglycemic Agents Phase 2, Phase 3
11
Formaldehyde Approved, Vet_approved 50-00-0 712
12
Creatine Approved, Investigational, Nutraceutical 57-00-1 586
13 Astragalus
14 Neuroserpin

Interventional clinical trials:

(showing 8, show less)
# Name Status NCT ID Phase Drugs
1 Combining Lovastatin and a Parent-Implemented Language Intervention in a Multimodal Treatment for Fragile X Syndrome Completed NCT02642653 Phase 4 Lovastatin
2 A Double-Blind, Placebo-Controlled Trial of Metformin in Individuals With Fragile X Syndrome Recruiting NCT03479476 Phase 2, Phase 3 Placebo Medication;Metformin
3 A Double-Blind, Placebo-Controlled Trial of Metformin in Individuals With Fragile X Syndrome (FXS) Recruiting NCT03862950 Phase 2 Placebo Medication;Metformin
4 Clinical Phenotyping and Characterization of Neural Networks and Cognitive Processes Involved in Mental Retardation X-linked Unknown status NCT02854956
5 Genetic Disease Gene Identification Unknown status NCT00916903
6 Effects of Creatine Supplementation in Rett Syndrome: A Randomized, Placebo-controlled Trial Completed NCT01147575
7 The Seaver Autism Center for Research and Treatment - Assessment Core Recruiting NCT03718910
8 Development of a New Algorithm-based Classification for Glioma Active, not recruiting NCT04194593

Search NIH Clinical Center for Autism X-Linked 2

Genetic Tests for Autism X-Linked 2

Genetic tests related to Autism X-Linked 2:

# Genetic test Affiliating Genes
1 Autism, Susceptibility to, X-Linked 2 29 NLGN4X
2 Mental Retardation, X-Linked 29
3 Autism Susceptibility, X-Linked 2 29

Anatomical Context for Autism X-Linked 2

MalaCards organs/tissues related to Autism X-Linked 2:

40
Brain, Eye, Lung, Breast, Testes

Publications for Autism X-Linked 2

Articles related to Autism X-Linked 2:

(showing 87, show less)
# Title Authors PMID Year
1
Familial deletion within NLGN4 associated with autism and Tourette syndrome. 6 56
18231125 2008
2
X-linked mental retardation and autism are associated with a mutation in the NLGN4 gene, a member of the neuroligin family. 6 56
14963808 2004
3
Mutations of the X-linked genes encoding neuroligins NLGN3 and NLGN4 are associated with autism. 6 56
12669065 2003
4
Genetic/familial high-risk assessment: breast and ovarian, version 1.2014. 6
25190698 2014
5
Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions. 6
23519317 2013
6
Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies. 6
20466091 2010
7
Hypothesis: dysregulation of methylation of brain-expressed genes on the X chromosome and autism spectrum disorders. 56
18698615 2008
8
Evidence for multiple loci from a genome scan of autism kindreds. 56
16880825 2006
9
Disorder-associated mutations lead to functional inactivation of neuroligins. 6
15150161 2004
10
A genomic screen of autism: evidence for a multilocus etiology. 56
10417292 1999
11
Xp deletions associated with autism in three females. 56
10071191 1999
12
Autism: towards an integration of clinical, genetic, neuropsychological, and neurobiological perspectives. 56
8655659 1996
13
ATRX In-Frame Fusion Neuroblastoma Is Sensitive to EZH2 Inhibition via Modulation of Neuronal Gene Signatures. 61
31631027 2019
14
Expression and prognostic impact of alpha thalassemia/mental retardation X-linked and death domain-associated protein in human lung cancer. 61
31374064 2019
15
Global changes in chromatin accessibility and transcription following ATRX inactivation in human cancer cells. 61
31329278 2019
16
High frequency of H3K27M immunopositivity in adult thalamic glioblastoma. 61
30937985 2019
17
G-quadruplex DNA drives genomic instability and represents a targetable molecular abnormality in ATRX-deficient malignant glioma. 61
30808951 2019
18
Recurrent Glioma With Lineage Conversion From Oligodendroglioma to Astrocytoma in Two Cases. 61
31508376 2019
19
The Loss of ATRX Increases Susceptibility to Pancreatic Injury and Oncogenic KRAS in Female But Not Male Mice. 61
30510993 2019
20
Evidence for HNRNPH1 being another gene for Bain type syndromic mental retardation. 61
29938792 2018
21
Daxx Functions Are p53-Independent In Vivo. 61
29903771 2018
22
Persistent accumulation of unrepaired DNA damage in rat cortical neurons: nuclear organization and ChIP-seq analysis of damaged DNA. 61
30049290 2018
23
Loss of Chromatin-Remodeling Proteins and/or CDKN2A Associates With Metastasis of Pancreatic Neuroendocrine Tumors and Reduced Patient Survival Times. 61
29486199 2018
24
Ribosomal DNA copy loss and repeat instability in ATRX-mutated cancers. 61
29669917 2018
25
Mechanistic understanding of the role of ATRX in senescence provides new insight for combinatorial therapies with CDK4 inhibitors. 61
29404388 2018
26
DNA repair synthesis and histone deposition partner during homologous recombination. 61
30263950 2018
27
Novel insights into the epigenetics of diffuse glioma. 61
30263940 2018
28
Altered Gene-Regulatory Function of KDM5C by a Novel Mutation Associated With Autism and Intellectual Disability. 61
29670509 2018
29
How to Tackle Challenging ChIP-Seq, with Long-Range Cross-Linking, Using ATRX as an Example. 61
30073524 2018
30
Primary Astrocytic Tumours and Paired Recurrences have Similar Biological Features in IDH1, TP53 and TERTp Mutation and MGMT, ATRX Loss. 61
29026176 2017
31
Deciphering the Molecular Effects of Mutations on ATRX Cause ATRX Syndrome: A Molecular Dynamics Study. 61
28294389 2017
32
Arabidopsis ATRX Modulates H3.3 Occupancy and Fine-Tunes Gene Expression. 61
28684426 2017
33
Alternative lengthening of telomeres and ATRX/DAXX loss can be reliably detected in FNAs of pancreatic neuroendocrine tumors. 61
28371511 2017
34
Dual-Genotype Diffuse Low-Grade Glioma: Is It Really Time to Abandon Oligoastrocytoma As a Distinct Entity? 61
28419269 2017
35
ATRX and DAXX: Mechanisms and Mutations. 61
28062559 2017
36
Identification of epigenetic signature associated with alpha thalassemia/mental retardation X-linked syndrome. 61
28293299 2017
37
Retinal interneuron survival requires non-cell-autonomous Atrx activity. 61
28173139 2016
38
New Genetics and Genomic Data on Pancreatic Neuroendocrine Tumors: Implications for Diagnosis, Treatment, and Targeted Therapies. 61
27456058 2016
39
Effect of ATRX and G-Quadruplex Formation by the VNTR Sequence on α-Globin Gene Expression. 61
26991472 2016
40
Molecular alterations in sporadic pancreatic neuroendocrine microadenomas. 61
26905832 2016
41
Stalled replication forks within heterochromatin require ATRX for protection. 61
27171262 2016
42
Differential nuclear ATRX expression in sarcomas. 61
26291601 2016
43
Detection of ATRX and IDH1-R132H immunohistochemistry in the progression of 211 paired gliomas. 61
26918938 2016
44
Correction: Characterization of the Drosophila Group Ortholog to the Amino-Terminus of the Alpha-Thalassemia and Mental Retardation X-Linked (ATRX) Vertebrate Protein. 61
26863318 2016
45
Volvulus and bowel obstruction in ATR-X syndrome-clinical report and review of literature. 61
26174613 2015
46
Impact of the tumor microenvironment in predicting postoperative hepatic recurrence of pancreatic neuroendocrine tumors. 61
25310565 2014
47
ATRX is required for maintenance of the neuroprogenitor cell pool in the embryonic mouse brain. 61
25395668 2014
48
Characterization of the Drosophila group ortholog to the amino-terminus of the alpha-thalassemia and mental retardation X-Linked (ATRX) vertebrate protein. 61
25437195 2014
49
The chromatin remodeller ATRX: a repeat offender in human disease. 61
23916100 2013
50
Sp100A promotes chromatin decondensation at a cytomegalovirus-promoter-regulated transcription site. 61
23485562 2013
51
PML bodies provide an important platform for the maintenance of telomeric chromatin integrity in embryonic stem cells. 61
23444137 2013
52
Genetic syndromes caused by mutations in epigenetic genes. 61
23370504 2013
53
X-linked mental deficiency. 61
23622180 2013
54
ATRX: the case of a peculiar chromatin remodeler. 61
23249563 2013
55
ATRX induction by mutant huntingtin via Cdx2 modulates heterochromatin condensation and pathology in Huntington's disease. 61
22240898 2012
56
Loss of ATRX or DAXX expression and concomitant acquisition of the alternative lengthening of telomeres phenotype are late events in a small subset of MEN-1 syndrome pancreatic neuroendocrine tumors. 61
22575867 2012
57
Aberrant epigenetic landscape in intellectual disability. 61
22541288 2012
58
Chromatin structure and ATRX function in mouse oocytes. 61
22918800 2012
59
Role of ATRX in chromatin structure and function: implications for chromosome instability and human disease. 61
21653732 2011
60
The ATRX-ADD domain binds to H3 tail peptides and reads the combined methylation state of K4 and K9. 61
21421568 2011
61
ATRX ADD domain links an atypical histone methylation recognition mechanism to human mental-retardation syndrome. 61
21666679 2011
62
Defective survival of proliferating Sertoli cells and androgen receptor function in a mouse model of the ATR-X syndrome. 61
21427128 2011
63
Mutations in GDI1 and X-linked non-specific mental retardation. 61
21736009 2011
64
A novel mutation in the HSD17B10 gene of a 10-year-old boy with refractory epilepsy, choreoathetosis and learning disability. 61
22132097 2011
65
Loss of maternal ATRX results in centromere instability and aneuploidy in the mammalian oocyte and pre-implantation embryo. 61
20885787 2010
66
Epigenetic mechanisms in neurological diseases: genes, syndromes, and therapies. 61
19833297 2009
67
Novel human pathological mutations. Gene symbol: JARID1C. Disease: mental retardation, X-linked. 61
19320021 2009
68
Novel human pathological mutations. Gene symbol: JARID1C. Disease: mental retardation, X-linked. 61
19320023 2009
69
Novel human pathological mutations. Gene symbol: JARID1C. Disease: mental retardation, X-linked. 61
19320024 2009
70
Distal Xq duplication and functional Xq disomy. 61
19232094 2009
71
Neuronal death resulting from targeted disruption of the Snf2 protein ATRX is mediated by p53. 61
19020049 2008
72
The chromatin remodelling factor dATRX is involved in heterochromatin formation. 61
18461125 2008
73
Loss of ATRX leads to chromosome cohesion and congression defects. 61
18227278 2008
74
Interaction between chromatin proteins MECP2 and ATRX is disrupted by mutations that cause inherited mental retardation. 61
17296936 2007
75
Lujan-Fryns syndrome (mental retardation, X-linked, marfanoid habitus). 61
16831221 2006
76
Glial and neuronal functions of the Drosophila homolog of the human SWI/SNF gene ATR-X (DATR-X) and the jing zinc-finger gene specify the lateral positioning of longitudinal glia and axons. 61
16648585 2006
77
Alpha thalassaemia-mental retardation, X linked. 61
16722615 2006
78
Loss of Atrx affects trophoblast development and the pattern of X-inactivation in extraembryonic tissues. 61
16628246 2006
79
Biochemical characterization of androgen receptor-interacting protein 4. 61
16212558 2006
80
Genotype-phenotype variations in five Spanish families with Norrie disease or X-linked FEVR. 61
16163268 2005
81
ATRX and sex differentiation. 61
15350606 2004
82
Prenatal diagnosis of hydrocephalus-stenosis of the aqueduct of Sylvius by ultrasound in the first trimester of pregnancy. Report of two cases. 61
11787037 2001
83
Molecular-clinical spectrum of the ATR-X syndrome. 61
11449489 2000
84
Norrie disease and exudative vitreoretinopathy in families with affected female carriers. 61
10544980 1999
85
Development and physical analysis of YAC contigs covering 7 Mb of Xp22.3-p22.2. 61
7789987 1995
86
A clinical and genetic study of X-linked recessive ichthyosis and contiguous gene defects. 61
7999591 1994
87
Non-specific X-linked mental retardation: background, types, diagnosis and prevalence. 61
6763078 1982

Variations for Autism X-Linked 2

ClinVar genetic disease variations for Autism X-Linked 2:

6 (showing 6, show less) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 NLGN4X NM_181332.3(NLGN4X):c.1252_1253GA[1] (p.Glu418fs)short repeat Pathogenic,risk factor 11051 rs1569118680 X:5821464-5821465 X:5903423-5903424
2 NLGN4X nsv513783deletion Pathogenic,risk factor 11052
3 NLGN4X NM_181332.3(NLGN4X):c.301C>T (p.Arg101Ter)SNV Pathogenic 374392 rs756651509 X:6069207-6069207 X:6151166-6151166
4 NLGN4X NM_181332.3(NLGN4X):c.1185dup (p.Asp396Ter)duplication risk factor 11050 rs1569118853 X:5821534-5821534 X:5903493-5903493
5 NLGN4X NM_181332.3(NLGN4X):c.2428G>A (p.Gly810Arg)SNV Uncertain significance 561066 rs1181689310 X:5810881-5810881 X:5892840-5892840
6 NLGN4X NM_181332.3(NLGN4X):c.2259G>C (p.Arg753Ser)SNV Uncertain significance 284715 rs886042929 X:5811050-5811050 X:5893009-5893009

Expression for Autism X-Linked 2

Search GEO for disease gene expression data for Autism X-Linked 2.

Pathways for Autism X-Linked 2

Pathways related to Autism X-Linked 2 according to KEGG:

36 (showing 1, show less)
# Name Kegg Source Accession
1 Regulation of actin cytoskeleton hsa04810

GO Terms for Autism X-Linked 2

Sources for Autism X-Linked 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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