MCID: ATS366
MIFTS: 43

Autism X-Linked 2

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

Aliases & Classifications for Autism X-Linked 2

MalaCards integrated aliases for Autism X-Linked 2:

Name: Autism X-Linked 2 57
Mental Retardation, X-Linked 57 13 40 73
Autism, Susceptibility to, X-Linked 2 57 29 6
Autsx2 57 75
Autism Susceptibility, X-Linked 2 57
X-Linked Mental Retardation 76
Autism, X-Linked 2 75

Characteristics:

OMIM:

57
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:

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


Classifications:



Summaries for Autism X-Linked 2

OMIM : 57 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). The drugs Riluzole and Lovastatin have been mentioned in the context of this disorder. Affiliated tissues include brain, testes and bone, and related phenotypes are autism and lack of spontaneous play

UniProtKB/Swiss-Prot : 75 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 : 76 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:

(show top 50) (show all 105)
# Related Disease Score Top Affiliating Genes
1 mental retardation, x-linked, with or without seizures, arx-related 12.7
2 mental retardation, x-linked, syndromic 13 12.6
3 mental retardation, x-linked, syndromic, cabezas type 12.6
4 mental retardation, x-linked, with cerebellar hypoplasia and distinctive facial appearance 12.5
5 mental retardation, x-linked 12 12.5
6 mental retardation, x-linked, with panhypopituitarism 12.5
7 mental retardation, x-linked, syndromic, nascimento type 12.5
8 mental retardation, x-linked 49 12.5
9 mental retardation, x-linked, syndromic, hedera type 12.5
10 mental retardation, x-linked, syndromic, claes-jensen type 12.5
11 mental retardation, x-linked, syndromic, wu type 12.5
12 mental retardation, x-linked, syndromic, turner type 12.5
13 mental retardation, x-linked, syndromic, raymond type 12.5
14 mental retardation, x-linked 97 12.5
15 mental retardation, x-linked, syndromic 32 12.5
16 mental retardation, x-linked, syndromic 34 12.5
17 mental retardation, x-linked, syndromic, martin-probst type 12.5
18 mental retardation, x-linked 96 12.5
19 mental retardation, x-linked, associated with fragile site fraxe 12.5
20 mental retardation, x-linked 21 12.5
21 mental retardation, x-linked, syndromic, christianson type 12.5
22 mental retardation, x-linked 98 12.5
23 mental retardation, x-linked 99 12.5
24 mental retardation, x-linked 101 12.5
25 mental retardation, x-linked 92 12.5
26 mental retardation, x-linked 100 12.5
27 mental retardation, x-linked 102 12.5
28 mental retardation, x-linked, syndromic 33 12.5
29 mental retardation, x-linked, syndromic, 35 12.5
30 mental retardation, x-linked 99, syndromic, female-restricted 12.5
31 mental retardation, x-linked 104 12.5
32 mental retardation, x-linked, syndromic, bain type 12.5
33 mental retardation, x-linked 61 12.4
34 mental retardation, x-linked 103 12.4
35 mental retardation, x-linked 105 12.4
36 mental retardation, x-linked 106 12.4
37 mental retardation, x-linked, syndromic, houge type 12.4
38 mental retardation, x-linked, syndromic 17 12.3
39 mental retardation, x-linked, syndromic, chudley-schwartz type 12.3
40 mental retardation, x-linked, syndromic, snyder-robinson type 12.3
41 mental retardation, x-linked, syndromic 9 12.2
42 mental retardation, x-linked 23 12.2
43 mental retardation, x-linked, with craniofacial dysmorphism 12.2
44 mental retardation, x-linked 50 12.2
45 mental retardation, x-linked 53 12.2
46 mental retardation, x-linked 73 12.2
47 mental retardation, x-linked 42 12.2
48 mental retardation, x-linked 107 12.2
49 lubs x-linked mental retardation syndrome 12.0
50 wilson-turner x-linked mental retardation syndrome 12.0

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

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
mental retardation in 75%
seizures in 15-30%
eeg abnormalities in 20-50%
impaired use of nonverbal behaviors, such as eye-to-eye gaze, facial expression, body posture, and gestures
impaired language development
more
Laboratory Abnormalities:
increased serum serotonin in 25%


Clinical features from OMIM:

300495

Human phenotypes related to Autism X-Linked 2:

32 (show all 12)
# Description HPO Frequency HPO Source Accession
1 autism 32 HP:0000717
2 lack of spontaneous play 32 HP:0000721
3 restrictive behavior 32 HP:0000723
4 inflexible adherence to routines or rituals 32 HP:0000732
5 stereotypy 32 HP:0000733
6 delayed speech and language development 32 HP:0000750
7 impaired use of nonverbal behaviors 32 HP:0000758
8 intellectual disability 32 HP:0001249
9 seizures 32 frequent (33%) HP:0001250
10 lack of peer relationships 32 HP:0002332
11 eeg abnormality 32 frequent (33%) HP:0002353
12 increased serum serotonin 32 frequent (33%) HP:0003144

Drugs & Therapeutics for Autism X-Linked 2

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

(show top 50) (show all 204)
# 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,Not Applicable
7 Excitatory Amino Acids Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
8 Neurotransmitter Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
9 Anticonvulsants Phase 4,Not Applicable
10 Neuroprotective Agents Phase 4,Not Applicable
11 Protective Agents Phase 4,Phase 3,Phase 2,Not Applicable
12 Pharmaceutical Solutions Phase 4,Phase 2,Phase 3,Phase 1
13 Anticholesteremic Agents Phase 4,Phase 2
14 Antimetabolites Phase 4,Phase 2,Not Applicable
15 Dihydromevinolin Phase 4,Phase 2
16 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 4,Phase 2
17 Hypolipidemic Agents Phase 4,Phase 2,Not Applicable
18 L 647318 Phase 4,Phase 2
19 Lipid Regulating Agents Phase 4,Phase 2,Not Applicable
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 Agents Phase 4,Phase 3,Phase 2
27 Serotonin Antagonists Phase 4,Phase 3
28 Tranquilizing Agents Phase 4,Phase 3,Phase 2,Phase 1
29 Central Nervous System Stimulants Phase 4
30 Dopamine Uptake Inhibitors Phase 4
31
Serotonin Investigational, Nutraceutical Phase 4,Phase 3,Phase 2 50-67-9 5202
32
Dextromethorphan Approved Phase 3,Phase 2,Not Applicable 125-71-3 5360696 5362449
33
Donepezil Approved Phase 3,Phase 2,Phase 1,Not Applicable 120014-06-4 3152
34
Guaifenesin Approved, Investigational, Vet_approved Phase 3,Phase 2,Not Applicable 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,Phase 3 55-98-1 2478
39
Cyclophosphamide Approved, Investigational Phase 2, Phase 3,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, Investigational Phase 3,Phase 1,Phase 2 7440-50-8 27099
43
Glycerol Approved, Investigational Phase 2, Phase 3 56-81-5 753
44
Glutamic Acid Approved, Nutraceutical Phase 3,Phase 2,Phase 1 56-86-0 33032
45
Biotin Approved, Investigational, Nutraceutical Phase 2, Phase 3 58-85-5 171548
46
Folic Acid Approved, Nutraceutical, Vet_approved Phase 2, Phase 3 59-30-3 6037
47
Tocopherol Approved, Investigational, Nutraceutical Phase 3,Phase 2 1406-66-2 14986
48
Vitamin C Approved, Nutraceutical Phase 3,Phase 2 50-81-7 5785 54670067
49
Vitamin E Approved, Nutraceutical, Vet_approved Phase 3,Phase 2 59-02-9 14985
50
Histidine Approved, Nutraceutical Phase 3,Phase 1,Phase 2 71-00-1 6274

Interventional clinical trials:

(show top 50) (show all 184)
# Name Status NCT ID Phase Drugs
1 Riluzole in Fragile X Syndrome Completed NCT00895752 Phase 4 Riluzole
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 Lovastatin
4 The Psychiatric and Cognitive Phenotypes in Velocardiofacial Syndrome Recruiting NCT00768820 Phase 4 methylphenidate, fluoxetin, risperidone
5 Long-term Evaluation on Height and Weight in Patients With MPS II Who Started Treatment at < 6 Years of Age Active, not recruiting NCT02455622 Phase 4 Elaprase for intravenous (IV) infusion
6 Independent Studies of Dextromethorphan and of Donepezil Hydrochloride for Rett Syndrome Unknown status NCT00069550 Phase 3 dextromethorphan;donepezil hydrochloride
7 Safety and Efficacy of Hunterase Completed NCT01645189 Phase 3
8 Efficacy and Safety Study of STX209 (Arbaclofen) for the Treatment of Social Withdrawal in Children With Fragile X Syndrome Completed NCT01325220 Phase 3 arbaclofen;arbaclofen;arbaclofen;Placebo
9 Efficacy and Safety Study of STX209 (Arbaclofen) for Social Withdrawal in Adolescents and Adults With Fragile X Syndrome Completed NCT01282268 Phase 3 arbaclofen;placebo
10 MD1003-AMN MD1003 in Adrenomyeloneuropathy Completed NCT02961803 Phase 2, Phase 3 MD1003 100 mg capsule;Placebo
11 Study of Intrathecal Idursulfase-IT Administered in Conjunction With Elaprase® in Pediatric Patients With Hunter Syndrome and Early Cognitive Impairment Completed NCT02055118 Phase 2, Phase 3
12 Acamprosate in Youth With Fragile X Syndrome Completed NCT01300923 Phase 3 Acamprosate
13 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 risperidone
14 Extension of Study TKT024 Evaluating Long-Term Safety and Clinical Outcomes in MPS II Patients Receiving Idursulfase Completed NCT00630747 Phase 2, Phase 3
15 Stem Cell Transplant for Inborn Errors of Metabolism Completed NCT00176904 Phase 2, Phase 3 Busulfan, Cyclophosphamide, Antithymocyte Globulin
16 Iduronate-2-sulfatase Enzyme Replacement Therapy in Mucopolysaccharidosis II (MPS II) Completed NCT00069641 Phase 2, Phase 3
17 Compassionate Treatment of Patients With Inborn Errors of Bile Acid Metabolism With Cholic Acid Completed NCT00007020 Phase 3 Cholic Acids
18 A Trial of Metformin in Individuals With Fragile X Syndrome Recruiting NCT03479476 Phase 2, Phase 3 Placebo Medication;Metformin
19 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 Vitamin C 10mg/Kg Vitamin E 10 mg/Kg;Placebo
20 Evaluation of the Efficacy, Safety, and Tolerability of Sarizotan in Rett Syndrome With Respiratory Symptoms Recruiting NCT02790034 Phase 2, Phase 3 Sarizotan;Placebo
21 Study of Acamprosate in Fragile x Syndrome Recruiting NCT01911455 Phase 2, Phase 3 acamprosate;Placebo
22 Trial of Dichloroacetate in Pyruvate Dehydrogenase Complex Deficiency: Recruiting NCT02616484 Phase 3 Dichloroacetate (DCA)
23 Molecular Bases of Response to Copper Treatment in Menkes Disease, Related Phenotypes, and Unexplained Copper Deficiency Recruiting NCT00811785 Phase 3 Copper Histidine
24 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) Active, not recruiting NCT01896102 Phase 2, Phase 3
25 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 Idursulfase-IT
26 A Study of JR-141 in Patients With Mucopolysaccharidosis II Not yet recruiting NCT03568175 Phase 2, Phase 3 JR-141
27 A Clinical Study to Evaluate the Efficacy and Safety of MIN-102 (IMP) in Male AMN Patients. Not yet recruiting NCT03231878 Phase 2, Phase 3 MIN-102;Placebos
28 Effect of Glycerol Trierucate on Clinical Course of Adrenoleukodystrophy Suspended NCT00004418 Phase 2, Phase 3 glyceryl trierucate;glyceryl trioleate
29 An Open Label Extension Study in Subjects With Fragile X Syndrome Terminated NCT01555333 Phase 3 arbaclofen
30 Long-term, Safety and Tolerability Study of AFQ056 in Adolescent Patients With Fragile X Syndrome (Open-label) Terminated NCT01433354 Phase 2, Phase 3 AFQ056
31 Ecopipam Treatment of Self-Injurious Behavior in Subjects With Lesch-Nyhan Disease Terminated NCT01751802 Phase 3 Ecopipam;Placebo
32 Clinical Trial of Growth Hormone in MPS I, II, and VI Terminated NCT00748969 Phase 2, Phase 3 Somatropin (DNA origin)
33 A Phase III Trial of Lorenzo's Oil in Adrenomyeloneuropathy Terminated NCT00545597 Phase 3 Lorenzo's oil
34 Trial of Kuvan in Lesch-Nyhan Disease Withdrawn NCT00935753 Phase 2, Phase 3 sapropterin
35 Pharmacological Treatment of Rett Syndrome With Glatiramer Acetate (Copaxone) Unknown status NCT02153723 Phase 2 Glatiramer Acetate
36 A Safety Study of NNZ-2566 in Pediatric Rett Syndrome Completed NCT02715115 Phase 2 NNZ-2566;Placebo
37 Pharmacological Treatment of Rett Syndrome With Statins Completed NCT02563860 Phase 2 Lovastatin
38 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 MG01CI extended-release tablet
39 Study to Assess Safety and Efficacy of Fingolimod in Children With Rett Syndrome Completed NCT02061137 Phase 1, Phase 2 fingolimod (FTY720)
40 A Safety Study of NNZ-2566 in Patients With Fragile X Syndrome Completed NCT01894958 Phase 2 NNZ-2566;Placebo
41 Phase 2 Study of EPI-743 for Treatment of Rett Syndrome Completed NCT01822249 Phase 2 EPI-743
42 Treatment of Rett Syndrome With Recombinant Human IGF-1 Completed NCT01777542 Phase 2 Recombinant Human Insulin Growth Factor 1 (rhIGF-1);Placebo
43 A Study of RO4917523 in Pediatric Patients With Fragile X Syndrome Completed NCT01750957 Phase 2 Placebo;RO4917523;RO4917523
44 Ganaxolone Treatment in Children With Fragile X Syndrome Completed NCT01725152 Phase 2 Ganaxolone;Placebo
45 A Safety Study of NNZ-2566 in Patients With Rett Syndrome Completed NCT01703533 Phase 2 NNZ-2566;Placebo
46 Placebo Controlled Trial of Dextromethorphan in Rett Syndrome Completed NCT01520363 Phase 2 dextromethorphan;placebo
47 A Study of RO4917523 in Patients With Fragile X Syndrome Completed NCT01517698 Phase 2 Placebo;RO4917523 0.5 mg;RO4917523 1.5 mg
48 Trial of Sertraline to Treat Children With Fragile X Syndrome Completed NCT01474746 Phase 2 Sertraline;Placebo
49 Safety and Efficacy of AFQ056 in Adolescent Patients With Fragile X Syndrome Completed NCT01357239 Phase 2 AFQ056;Placebo
50 Safety and Efficacy Study of Antioxidants for the Treatment of the Fragile X Syndrome Completed NCT01329770 Phase 2

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

Anatomical Context for Autism X-Linked 2

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

41
Brain, Testes, Bone, Eye, Liver, Bone Marrow

Publications for Autism X-Linked 2

Articles related to Autism X-Linked 2:

# Title Authors Year
1
Characterization of the Drosophila group ortholog to the amino-terminus of the alpha-thalassemia and mental retardation X-Linked (ATRX) vertebrate protein. ( 25437195 )
2014
2
Novel human pathological mutations. Gene symbol: JARID1C. Disease: mental retardation, X-linked. ( 19320021 )
2009
3
Novel human pathological mutations. Gene symbol: JARID1C. Disease: mental retardation, X-linked. ( 19320023 )
2009
4
Novel human pathological mutations. Gene symbol: JARID1C. Disease: mental retardation, X-linked. ( 19320024 )
2009
5
Lujan-Fryns syndrome (mental retardation, X-linked, marfanoid habitus). ( 16831221 )
2006
6
Alpha thalassaemia-mental retardation, X linked. ( 16722615 )
2006

Variations for Autism X-Linked 2

ClinVar genetic disease variations for Autism X-Linked 2:

6
# 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
5 NLGN4X NM_181332.2(NLGN4X): c.301C> T (p.Arg101Ter) single nucleotide variant Pathogenic rs756651509 GRCh38 Chromosome X, 6151166: 6151166

Expression for Autism X-Linked 2

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

Pathways for Autism X-Linked 2

GO Terms for Autism X-Linked 2

Sources for Autism X-Linked 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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