AUTSX2
MCID: ATS049
MIFTS: 33

Autism Susceptibility, X-Linked 2 (AUTSX2) malady

Categories: Genetic diseases, Neuronal diseases, Mental diseases

Aliases & Classifications for Autism Susceptibility, X-Linked 2

Aliases & Descriptions for Autism Susceptibility, X-Linked 2:

Name: Autism Susceptibility, X-Linked 2 54
Mental Retardation, X-Linked 54 13
Autism, X-Linked 2 66 29
Autsx2 66

Characteristics:

HPO:

32
autism susceptibility, x-linked 2:
Inheritance heterogeneous sporadic x-linked inheritance multifactorial inheritance
Onset and clinical course childhood onset


Classifications:



External Ids:

OMIM 54 300495
MedGen 40 C1845539
MeSH 42 D001321

Summaries for Autism Susceptibility, X-Linked 2

OMIM : 54 Autism, the prototypic pervasive developmental disorder (PDD), is usually apparent by 3 years of age. It is... (300495) more...

MalaCards based summary : Autism Susceptibility, X-Linked 2, also known as mental retardation, x-linked, is related to mental retardation, x-linked, syndromic 15 and mental retardation, x-linked, syndromic 13, and has symptoms including seizures, intellectual disability and eeg abnormality. An important gene associated with Autism Susceptibility, X-Linked 2 is NLGN4X (Neuroligin 4, X-Linked). The drugs Riluzole and Lovastatin have been mentioned in the context of this disorder.

UniProtKB/Swiss-Prot : 66 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.

Related Diseases for Autism Susceptibility, X-Linked 2

Diseases in the Autism Susceptibility, X-Linked 2 family:

Autism Susceptibility, X-Linked 1 Autism Susceptibility, X-Linked 3
Autism Susceptibility, X-Linked 4

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

(show top 50) (show all 90)
id Related Disease Score Top Affiliating Genes
1 mental retardation, x-linked, syndromic 15 12.5
2 mental retardation, x-linked, syndromic 13 12.4
3 mental retardation, x-linked 29 and others 12.4
4 mental retardation, x-linked syndromic, nascimento-type 12.4
5 mental retardation, x-linked, with isolated growth hormone deficiency 12.4
6 mental retardation, x-linked syndromic, turner type 12.4
7 mental retardation, x-linked syndromic, christianson type 12.4
8 mental retardation, x-linked, syndromic 32 12.4
9 mental retardation, x-linked syndromic, lubs type 12.4
10 mental retardation, x-linked syndromic, raymond type 12.4
11 mental retardation, x-linked, fraxe type 12.4
12 mental retardation, x-linked 3 12.4
13 mental retardation, x-linked, with cerebellar hypoplasia and distinctive facial appearance 12.4
14 mental retardation, x-linked 30/47 12.4
15 mental retardation, x-linked, syndromic, martin-probst type 12.4
16 mental retardation, x-linked 99 12.4
17 mental retardation, x-linked 92 12.4
18 mental retardation, x-linked 96 12.4
19 mental retardation, x-linked, syndromic, claes-jensen type 12.4
20 mental retardation, x-linked 101 12.4
21 mental retardation, x-linked 49 12.4
22 mental retardation, x-linked 12/35 12.4
23 mental retardation, x-linked, syndromic, hedera type 12.4
24 mental retardation, x-linked 98 12.3
25 mental retardation, x-linked 102 12.3
26 mental retardation, x-linked 97 12.3
27 mental retardation, x-linked 100 12.3
28 mental retardation, x-linked, syndromic, 33 12.3
29 mental retardation, x-linked 104 12.3
30 mental retardation, x-linked, syndromic, wu type 12.3
31 mental retardation, x-linked 61 12.3
32 mental retardation, x-linked 105 12.3
33 mental retardation, x-linked, syndromic, borck type 12.3
34 mental retardation, x-linked, syndromic, bain type 12.3
35 mental retardation, x-linked syndromic 5 12.2
36 mental retardation, x-linked, snyder-robinson type 12.2
37 mental retardation, x-linked, syndromic, chudley-schwartz type 12.1
38 mental retardation, x-linked, syndromic 9 12.1
39 mental retardation, x-linked, syndromic 17 12.1
40 mental retardation, x-linked, syndromic, wilson-turner type 12.1
41 mental retardation, x-linked, with growth hormone deficiency 12.1
42 mental retardation, x-linked, with short stature, small testes, muscle wasting, and tremor 12.1
43 mental retardation, x-linked, with craniofacial dysmorphism 12.1
44 mental retardation x-linked dysmorphism 12.0
45 mental retardation x-linked, south african type 12.0
46 mental retardation, x-linked 50 12.0
47 mental retardation, x-linked 53 12.0
48 mental retardation, x-linked 73 12.0
49 mental retardation, x-linked 23 12.0
50 mental retardation, x-linked 42 12.0

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



Diseases related to Autism Susceptibility, X-Linked 2

Symptoms & Phenotypes for Autism Susceptibility, X-Linked 2

Symptoms by clinical synopsis from OMIM:

300495

Clinical features from OMIM:

300495

Human phenotypes related to Autism Susceptibility, X-Linked 2:

32 (show all 12)
id Description HPO Frequency HPO Source Accession
1 seizures 32 HP:0001250
2 intellectual disability 32 HP:0001249
3 eeg abnormality 32 HP:0002353
4 delayed speech and language development 32 HP:0000750
5 stereotypy 32 HP:0000733
6 autism 32 HP:0000717
7 impaired use of nonverbal behaviors 32 HP:0000758
8 restrictive behavior 32 HP:0000723
9 lack of spontaneous play 32 HP:0000721
10 inflexible adherence to routines or rituals 32 HP:0000732
11 increased serum serotonin 32 HP:0003144
12 lack of peer relationships 32 HP:0002332

Drugs & Therapeutics for Autism Susceptibility, X-Linked 2

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

(show top 50) (show all 207)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Riluzole Approved, Investigational Phase 4 1744-22-5 5070
2
Lovastatin Approved, Investigational Phase 4,Phase 2 75330-75-5 53232
3
Dopamine Approved Phase 4,Phase 3,Phase 1 51-61-6, 62-31-7 681
4
Risperidone Approved, Investigational Phase 4,Phase 3 106266-06-2 5073
5
Methylphenidate Approved, Investigational Phase 4 113-45-1 4158
6 Excitatory Amino Acid Antagonists Phase 4,Phase 3,Phase 2,Phase 1
7 Excitatory Amino Acids Phase 4,Phase 3,Phase 2,Phase 1
8 Neurotransmitter Agents Phase 4,Phase 3,Phase 2,Phase 1
9 Anticonvulsants Phase 4
10 Neuroprotective Agents Phase 4
11 Protective Agents Phase 4,Phase 3,Phase 2
12 Pharmaceutical Solutions Phase 4,Phase 2,Phase 3,Phase 1
13 Anticholesteremic Agents Phase 4,Phase 2
14 Antimetabolites Phase 4,Phase 2
15 Dihydromevinolin Phase 4,Phase 2
16 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 4,Phase 2
17 Hypolipidemic Agents Phase 4,Phase 2
18 L 647318 Phase 4,Phase 2
19 Lipid Regulating Agents Phase 4,Phase 2
20 Antipsychotic Agents Phase 4,Phase 3,Phase 2,Phase 1
21 Central Nervous System Depressants Phase 4,Phase 3,Phase 2,Phase 1
22 Dopamine Agents Phase 4,Phase 3,Phase 1
23 Dopamine Antagonists Phase 4,Phase 3,Phase 1
24 Neurotransmitter Uptake Inhibitors Phase 4,Phase 2
25 Psychotropic Drugs Phase 4,Phase 3,Phase 2,Phase 1
26
Serotonin Phase 4,Phase 3,Phase 2 50-67-9 5202
27 Serotonin Agents Phase 4,Phase 3,Phase 2
28 Serotonin Antagonists Phase 4,Phase 3
29 Tranquilizing Agents Phase 4,Phase 3,Phase 2,Phase 1
30 Central Nervous System Stimulants Phase 4
31 Dopamine Uptake Inhibitors Phase 4
32
Dextromethorphan Approved Phase 3,Phase 2 125-71-3 5360696 5362449
33
Donepezil Approved Phase 3,Phase 2,Phase 1 120014-06-4 3152
34
Guaifenesin Approved, Vet_approved Phase 3,Phase 2 93-14-1 3516
35
Baclofen Approved Phase 3,Phase 2 1134-47-0 2284
36
Acamprosate Approved, Investigational Phase 3,Phase 2 77337-76-9 71158
37
Ethanol Approved Phase 3,Phase 2 64-17-5 702
38
Busulfan Approved, Investigational Phase 2, Phase 3 55-98-1 2478
39
Cyclophosphamide Approved, Investigational Phase 2, Phase 3 50-18-0, 6055-19-2 2907
40
Methylprednisolone Approved, Vet_approved Phase 2, Phase 3 83-43-2 6741
41
Prednisolone Approved, Vet_approved Phase 2, Phase 3 50-24-8 5755
42
Copper Approved Phase 3,Phase 1,Phase 2 15158-11-9, 7440-50-8 27099
43
Adalimumab Approved Phase 2, Phase 3,Phase 1 331731-18-1 16219006
44
Glycerol Approved, Experimental Phase 2, Phase 3 56-81-5 753
45
Vitamin C Approved, Nutraceutical Phase 3,Phase 2 50-81-7 5785 54670067
46
Vitamin E Approved, Nutraceutical, Vet_approved Phase 3,Phase 2 59-02-9 14985
47
Folic Acid Approved, Nutraceutical, Vet_approved Phase 2, Phase 3 59-30-3 6037
48
Pyruvate Approved, Nutraceutical Phase 3
49
Biotin Approved, Nutraceutical Phase 2, Phase 3 58-85-5 171548
50 Antitussive Agents Phase 3,Phase 2

Interventional clinical trials:

(show top 50) (show all 184)
id Name Status NCT ID Phase
1 Riluzole in Fragile X Syndrome Completed NCT00895752 Phase 4
2 Safety and Clinical Outcomes in Hunter Syndrome Patients 5 Years of Age and Younger Receiving Idursulfase Therapy Completed NCT00607386 Phase 4
3 Combining Lovastatin and a Parent-Implemented Language Intervention for Fragile X Syndrome Recruiting NCT02642653 Phase 4
4 Long-term Evaluation on Height and Weight in Patients With MPS II Who Started Treatment at < 6 Years of Age Recruiting NCT02455622 Phase 4
5 The Psychiatric and Cognitive Phenotypes in Velocardiofacial Syndrome Recruiting NCT00768820 Phase 4
6 Independent Studies of Dextromethorphan and of Donepezil Hydrochloride for Rett Syndrome Unknown status NCT00069550 Phase 3
7 Extension of Study TKT024 Evaluating Long-Term Safety and Clinical Outcomes in MPS II Patients Receiving Idursulfase Completed NCT00630747 Phase 2, Phase 3
8 Safety and Efficacy of Hunterase Completed NCT01645189 Phase 3
9 Efficacy and Safety Study of STX209 (Arbaclofen) for the Treatment of Social Withdrawal in Children With Fragile X Syndrome Completed NCT01325220 Phase 3
10 Efficacy and Safety Study of STX209 (Arbaclofen) for Social Withdrawal in Adolescents and Adults With Fragile X Syndrome Completed NCT01282268 Phase 3
11 A Study of the Effectiveness and Safety of Risperidone Versus Placebo in the Treatment of Children With Autistic Disorder and Other Pervasive Developmental Disorders (PDD) Completed NCT00261508 Phase 3
12 Acamprosate in Youth With Fragile X Syndrome Completed NCT01300923 Phase 3
13 Stem Cell Transplant for Inborn Errors of Metabolism Completed NCT00176904 Phase 2, Phase 3
14 Iduronate-2-sulfatase Enzyme Replacement Therapy in Mucopolysaccharidosis II (MPS II) Completed NCT00069641 Phase 2, Phase 3
15 Compassionate Treatment of Patients With Inborn Errors of Bile Acid Metabolism With Cholic Acid Completed NCT00007020 Phase 3
16 Clinical Trial for Asses the Safety and Efficacy of Vitamin C and Vitamin E in Combination Versus Placebo for Treating Cognitive and Behavior Disorder in Children With Fragile X Syndrome Recruiting NCT02942498 Phase 3
17 A Phase 2/3 Study of the Efficacy and Safety of Hematopoietic Stem Cells Transduced With Lenti-D Lentiviral Vector for the Treatment of Cerebral Adrenoleukodystrophy (CALD) Recruiting NCT01896102 Phase 2, Phase 3
18 Study of Acamprosate in Fragile x Syndrome Recruiting NCT01911455 Phase 2, Phase 3
19 Evaluation of the Efficacy, Safety, and Tolerability of Sarizotan in Rett Syndrome With Respiratory Symptoms Recruiting NCT02790034 Phase 2, Phase 3
20 Molecular Bases of Response to Copper Treatment in Menkes Disease, Related Phenotypes, and Unexplained Copper Deficiency Recruiting NCT00811785 Phase 3
21 Effects of Adalimumab in Mucopolysaccharidosis Types I, II and VI Recruiting NCT02437253 Phase 2, Phase 3
22 Study of Intrathecal Idursulfase-IT Administered in Conjunction With Elaprase® in Pediatric Patients With Hunter Syndrome and Early Cognitive Impairment Active, not recruiting NCT02055118 Phase 2, Phase 3
23 MD1003-AMN MD1003 in Adrenomyeloneuropathy Active, not recruiting NCT02961803 Phase 2, Phase 3
24 Long-Term Safety and Clinical Outcomes of Idursulfase IT and Elaprase Treatment in Pediatric Patients With Hunter Syndrome That Have Completed Study HGT-HIT-094 Enrolling by invitation NCT02412787 Phase 2, Phase 3
25 Trial of Dichloroacetate in Pyruvate Dehydrogenase Complex Deficiency: Not yet recruiting NCT02616484 Phase 3
26 Effect of Glycerol Trierucate on Clinical Course of Adrenoleukodystrophy Suspended NCT00004418 Phase 2, Phase 3
27 Long-term, Safety and Tolerability Study of AFQ056 in Adolescent Patients With Fragile X Syndrome (Open-label) Terminated NCT01433354 Phase 2, Phase 3
28 An Open Label Extension Study in Subjects With Fragile X Syndrome Terminated NCT01555333 Phase 3
29 Ecopipam Treatment of Self-Injurious Behavior in Subjects With Lesch-Nyhan Disease Terminated NCT01751802 Phase 3
30 Clinical Trial of Growth Hormone in MPS I, II, and VI Terminated NCT00748969 Phase 2, Phase 3
31 A Phase III Trial of Lorenzo's Oil in Adrenomyeloneuropathy Terminated NCT00545597 Phase 3
32 Trial of Kuvan in Lesch-Nyhan Disease Withdrawn NCT00935753 Phase 2, Phase 3
33 Pharmacological Treatment of Rett Syndrome With Glatiramer Acetate (Copaxone) Unknown status NCT02153723 Phase 2
34 Citocoline for Treatment of FXTAS Unknown status NCT02197104 Phase 2
35 Safety and Efficacy Study of Antioxidants for the Treatment of the Fragile X Syndrome Completed NCT01329770 Phase 2
36 Randomized Controlled Study of Donepezil in Fragile X Syndrome Completed NCT01120626 Phase 2
37 Safety and Efficacy of AFQ056 in Adult Patients With Fragile X Syndrome Completed NCT01253629 Phase 2
38 A Clinical Trial for AMN: Validation of Biomarkers of Oxidative Stress, Efficacy and Safety of a Mixture of Antioxidants Completed NCT01495260 Phase 2
39 Safety and Efficacy of AFQ056 in Adolescent Patients With Fragile X Syndrome Completed NCT01357239 Phase 2
40 Trial of Sertraline to Treat Children With Fragile X Syndrome Completed NCT01474746 Phase 2
41 Open Label Study Investigating Safety and Efficacy of NPL2009 50 mg - 150 mg on Prepulse Inhibition Tests and Continuous Performance Tasks, Adults With Fragile X Syndrome Completed NCT00637221 Phase 1, Phase 2
42 A Safety Study of NNZ-2566 in Patients With Fragile X Syndrome Completed NCT01894958 Phase 2
43 Copper Histidine Therapy for Menkes Diseases Completed NCT00001262 Phase 1, Phase 2
44 A Safety Study of NNZ-2566 in Pediatric Rett Syndrome Completed NCT02715115 Phase 2
45 Pharmacological Treatment of Rett Syndrome With Statins Completed NCT02563860 Phase 2
46 A 6-week, Study of MG01CI Low Dose and High Dose Compared With Placebo in Adults and Adolescents With Fragile X Syndrome Completed NCT02126995 Phase 2
47 Phase 2 Study of EPI-743 for Treatment of Rett Syndrome Completed NCT01822249 Phase 2
48 Treatment of Rett Syndrome With Recombinant Human IGF-1 Completed NCT01777542 Phase 2
49 A Study of RO4917523 in Pediatric Patients With Fragile X Syndrome Completed NCT01750957 Phase 2
50 A Safety Study of NNZ-2566 in Patients With Rett Syndrome Completed NCT01703533 Phase 2

Search NIH Clinical Center for Autism Susceptibility, X-Linked 2

Genetic Tests for Autism Susceptibility, X-Linked 2

Genetic tests related to Autism Susceptibility, X-Linked 2:

id Genetic test Affiliating Genes
1 Autism, Susceptibility to, X-Linked 2 29

Anatomical Context for Autism Susceptibility, X-Linked 2

Publications for Autism Susceptibility, X-Linked 2

Variations for Autism Susceptibility, X-Linked 2

ClinVar genetic disease variations for Autism Susceptibility, X-Linked 2:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 NLGN4X NLGN4, 1-BP INS, 1186T insertion risk factor
2 NLGN4X NLGN4, 2-BP DEL, 1253AG deletion Pathogenic,risk factor
3 NLGN4X nsv513783 deletion Pathogenic,risk factor
4 NLGN4X NM_181332.2(NLGN4X): c.301C> T (p.Arg101Ter) single nucleotide variant Pathogenic rs756651509 GRCh37 Chromosome X, 6069207: 6069207

Expression for Autism Susceptibility, X-Linked 2

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

Pathways for Autism Susceptibility, X-Linked 2

GO Terms for Autism Susceptibility, X-Linked 2

Sources for Autism Susceptibility, X-Linked 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....