AUTSX3
MCID: ATS367
MIFTS: 27

Autism X-Linked 3 (AUTSX3)

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

Aliases & Classifications for Autism X-Linked 3

MalaCards integrated aliases for Autism X-Linked 3:

Name: Autism X-Linked 3 57
Autism, Susceptibility to, X-Linked 3 57 29 6
Autism Susceptibility, X-Linked 3 57 29 13
Autsx3 57 72
Autism, Susceptibility to, X-Linked, Type 3 39
Autism, X-Linked 3 72

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
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
allelic disorder to rett syndrome

Inheritance:
x-linked


HPO:

31
autism x-linked 3:
Inheritance x-linked inheritance heterogeneous
Onset and clinical course childhood onset


Classifications:



Summaries for Autism X-Linked 3

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. (300496) (Updated 20-May-2021)

MalaCards based summary : Autism X-Linked 3, is also known as autism, susceptibility to, x-linked 3. An important gene associated with Autism X-Linked 3 is MECP2 (Methyl-CpG Binding Protein 2). Affiliated tissues include eye and brain, and related phenotypes are eeg abnormality and increased serum serotonin

UniProtKB/Swiss-Prot : 72 Autism, X-linked 3: 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 X-Linked 3

Symptoms & Phenotypes for Autism X-Linked 3

Human phenotypes related to Autism X-Linked 3:

31 (show all 13)
# Description HPO Frequency HPO Source Accession
1 eeg abnormality 31 frequent (33%) HP:0002353
2 increased serum serotonin 31 frequent (33%) HP:0003144
3 seizure 31 frequent (33%) HP:0001250
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 restrictive behavior 31 HP:0000723
10 lack of peer relationships 31 HP:0002332
11 disturbance of facial expression 31 HP:0005324
12 lack of spontaneous play 31 HP:0000721
13 inflexible adherence to routines or rituals 31 HP:0000732

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
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®:

300496 (Updated 20-May-2021)

Drugs & Therapeutics for Autism X-Linked 3

Search Clinical Trials , NIH Clinical Center for Autism X-Linked 3

Genetic Tests for Autism X-Linked 3

Genetic tests related to Autism X-Linked 3:

# Genetic test Affiliating Genes
1 Autism, Susceptibility to, X-Linked 3 29 MECP2
2 Autism Susceptibility, X-Linked 3 29

Anatomical Context for Autism X-Linked 3

MalaCards organs/tissues related to Autism X-Linked 3:

40
Eye, Brain

Publications for Autism X-Linked 3

Articles related to Autism X-Linked 3:

(show all 14)
# Title Authors PMID Year
1
Using whole-exome sequencing to identify inherited causes of autism. 57 6
23352163 2013
2
Identification of MeCP2 mutations in a series of females with autistic disorder. 6 57
12770674 2003
3
Brief report: MECP2 mutations in people without Rett syndrome. 6
23921973 2014
4
Two new Rett syndrome families and review of the literature: expanding the knowledge of MECP2 frameshift mutations. 6
21878110 2011
5
Hypothesis: dysregulation of methylation of brain-expressed genes on the X chromosome and autism spectrum disorders. 57
18698615 2008
6
Investigating genotype-phenotype relationships in Rett syndrome using an international data set. 6
18332345 2008
7
Evidence for multiple loci from a genome scan of autism kindreds. 57
16880825 2006
8
Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular update. 6
16473305 2006
9
Mutation analysis of MECP2 and clinical characterization in Korean patients with Rett syndrome. 6
11913567 2002
10
No mutations in the coding region of the Rett syndrome gene MECP2 in 59 autistic patients. 57
11464249 2001
11
Spectrum of mutations in the MECP2 gene in patients with infantile autism and Rett syndrome. 57
11106359 2000
12
Preserved speech variant is allelic of classic Rett syndrome. 6
10854091 2000
13
A genomic screen of autism: evidence for a multilocus etiology. 57
10417292 1999
14
Autism: towards an integration of clinical, genetic, neuropsychological, and neurobiological perspectives. 57
8655659 1996

Variations for Autism X-Linked 3

ClinVar genetic disease variations for Autism X-Linked 3:

6 (show all 50)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 MECP2 NM_001110792.2(MECP2):c.916C>T (p.Arg306Ter) SNV Pathogenic, risk factor 11819 rs61751362 GRCh37: X:153296399-153296399
GRCh38: X:154030948-154030948
2 MECP2 NM_001110792.2(MECP2):c.1200_1243del (p.Pro400_Pro401insTer) Deletion Pathogenic 143406 rs61752992 GRCh37: X:153296072-153296115
GRCh38: X:154030621-154030664
3 MECP2 NM_001110792.2(MECP2):c.509C>T (p.Thr170Met) SNV Pathogenic 11811 rs28934906 GRCh37: X:153296806-153296806
GRCh38: X:154031355-154031355
4 MECP2 NM_001110792.2(MECP2):c.1193_1233del (p.Leu398fs) Deletion Pathogenic 143369 rs267608327 GRCh37: X:153296082-153296122
GRCh38: X:154030631-154030671
5 MECP2 NM_001110792.2(MECP2):c.844C>T (p.Arg282Ter) SNV Pathogenic 11815 rs61750240 GRCh37: X:153296471-153296471
GRCh38: X:154031020-154031020
6 MECP2 NM_001110792.2(MECP2):c.916C>T (p.Arg306Ter) SNV Pathogenic 11819 rs61751362 GRCh37: X:153296399-153296399
GRCh38: X:154030948-154030948
7 MECP2 NM_001110792.2(MECP2):c.509C>T (p.Thr170Met) SNV Pathogenic 11811 rs28934906 GRCh37: X:153296806-153296806
GRCh38: X:154031355-154031355
8 MECP2 NM_001110792.2(MECP2):c.490C>G (p.Pro164Ala) SNV Pathogenic 11844 rs179363900 GRCh37: X:153296825-153296825
GRCh38: X:154031374-154031374
9 MECP2 NM_001110792.2(MECP2):c.1200_1243del (p.Pro400_Pro401insTer) Deletion Pathogenic 143406 rs61752992 GRCh37: X:153296072-153296115
GRCh38: X:154030621-154030664
10 MECP2 NM_001110792.2(MECP2):c.352C>T (p.Arg118Trp) SNV Pathogenic 11814 rs28934907 GRCh37: X:153297719-153297719
GRCh38: X:154032268-154032268
11 MECP2 NM_001110792.2(MECP2):c.844C>T (p.Arg282Ter) SNV Pathogenic 11815 rs61750240 GRCh37: X:153296471-153296471
GRCh38: X:154031020-154031020
12 MECP2 NM_001110792.2(MECP2):c.1244dup (p.Pro415_Glu416insTer) Duplication Pathogenic 429893 rs781843758 GRCh37: X:153296070-153296071
GRCh38: X:154030619-154030620
13 MECP2 NM_001110792.2(MECP2):c.799C>T (p.Arg267Ter) SNV Pathogenic 11829 rs61749721 GRCh37: X:153296516-153296516
GRCh38: X:154031065-154031065
14 MECP2 NM_001110792.2(MECP2):c.455C>T (p.Ala152Val) SNV Pathogenic 11823 rs28934908 GRCh37: X:153296860-153296860
GRCh38: X:154031409-154031409
15 MECP2 NM_001110792.2(MECP2):c.1483G>T (p.Glu495Ter) SNV risk factor 133342 rs587777421 GRCh37: X:153295832-153295832
GRCh38: X:154030381-154030381
16 MECP2 NM_001110792.2(MECP2):c.455C>T (p.Ala152Val) SNV Likely pathogenic 11823 rs28934908 GRCh37: X:153296860-153296860
GRCh38: X:154031409-154031409
17 MECP2 NM_001110792.2(MECP2):c.1198_1206delinsACCAGCCCCC (p.Pro400fs) Indel Likely pathogenic 931417 GRCh37: X:153296109-153296117
GRCh38: X:154030658-154030666
18 MECP2 MECP2, 41-BP DEL, NT1157 Deletion risk factor 11820 GRCh37:
GRCh38:
19 MECP2 NM_004992.3(MECP2):c.*1368C>A SNV Uncertain significance 143252 rs267608355 GRCh37: X:153294450-153294450
GRCh38: X:154028999-154028999
20 MECP2 NM_004992.3(MECP2):c.*177G>C SNV Uncertain significance 143254 rs267608345 GRCh37: X:153295641-153295641
GRCh38: X:154030190-154030190
21 MECP2 NM_004992.3(MECP2):c.*204G>A SNV Uncertain significance 143255 rs267608352 GRCh37: X:153295614-153295614
GRCh38: X:154030163-154030163
22 MECP2 NM_004992.3(MECP2):c.*2556T>A SNV Uncertain significance 143256 rs267608356 GRCh37: X:153293262-153293262
GRCh38: X:154027811-154027811
23 MECP2 NM_004992.3(MECP2):c.*2657G>A SNV Uncertain significance 143257 rs3027921 GRCh37: X:153293161-153293161
GRCh38: X:154027710-154027710
24 MECP2 NM_004992.3(MECP2):c.*2706G>A SNV Uncertain significance 143258 rs267608357 GRCh37: X:153293112-153293112
GRCh38: X:154027661-154027661
25 MECP2 NM_004992.3(MECP2):c.*2956G>A SNV Uncertain significance 143259 rs267608358 GRCh37: X:153292862-153292862
GRCh38: X:154027411-154027411
26 MECP2 NM_004992.3(MECP2):c.*3658C>T SNV Uncertain significance 143264 rs267608359 GRCh37: X:153292160-153292160
GRCh38: X:154026709-154026709
27 MECP2 NM_004992.3(MECP2):c.*371G>C SNV Uncertain significance 143267 rs187851059 GRCh37: X:153295447-153295447
GRCh38: X:154029996-154029996
28 MECP2 NM_004992.3(MECP2):c.*5348T>C SNV Uncertain significance 143275 rs267608346 GRCh37: X:153290470-153290470
GRCh38: X:154025019-154025019
29 MECP2 NM_004992.3(MECP2):c.*544G>A SNV Uncertain significance 143276 rs183349022 GRCh37: X:153295274-153295274
GRCh38: X:154029823-154029823
30 MECP2 NM_004992.3(MECP2):c.*554G>A SNV Uncertain significance 143278 rs267608353 GRCh37: X:153295264-153295264
GRCh38: X:154029813-154029813
31 MECP2 NM_004992.3(MECP2):c.*767G>T SNV Uncertain significance 143281 rs267608354 GRCh37: X:153295051-153295051
GRCh38: X:154029600-154029600
32 MECP2 NM_004992.3(MECP2):c.*861T>G SNV Uncertain significance 143290 rs187614438 GRCh37: X:153294957-153294957
GRCh38: X:154029506-154029506
33 MECP2 NM_001110792.2(MECP2):c.1163C>G (p.Pro388Arg) SNV Uncertain significance 143336 rs61752976 GRCh37: X:153296152-153296152
GRCh38: X:154030701-154030701
34 MECP2 NM_001110792.2(MECP2):c.515C>G (p.Thr172Ser) SNV Uncertain significance 143593 rs61748414 GRCh37: X:153296800-153296800
GRCh38: X:154031349-154031349
35 MECP2 NM_001110792.2(MECP2):c.578C>T (p.Ala193Val) SNV Uncertain significance 143616 rs61749705 GRCh37: X:153296737-153296737
GRCh38: X:154031286-154031286
36 MECP2 NM_001110792.2(MECP2):c.934G>A (p.Val312Ile) SNV Uncertain significance 36494 rs61751370 GRCh37: X:153296381-153296381
GRCh38: X:154030930-154030930
37 MECP2 NM_001110792.2(MECP2):c.1469G>A (p.Arg490Gln) SNV Uncertain significance 156636 rs145790362 GRCh37: X:153295846-153295846
GRCh38: X:154030395-154030395
38 MECP2 NM_001110792.2(MECP2):c.1291C>T (p.Pro431Ser) SNV Uncertain significance 156634 rs140258520 GRCh37: X:153296024-153296024
GRCh38: X:154030573-154030573
39 MECP2 NM_001110792.2(MECP2):c.1049C>G (p.Thr350Ser) SNV Uncertain significance 188500 rs786204313 GRCh37: X:153296266-153296266
GRCh38: X:154030815-154030815
40 MECP2 NM_001110792.2(MECP2):c.838C>T (p.Arg280Trp) SNV Uncertain significance 143700 rs61750239 GRCh37: X:153296477-153296477
GRCh38: X:154031026-154031026
41 MECP2 NM_001110792.2(MECP2):c.553C>G (p.Pro185Ala) SNV Uncertain significance 143608 rs61748427 GRCh37: X:153296762-153296762
GRCh38: X:154031311-154031311
42 MECP2 NM_001110792.2(MECP2):c.991G>A (p.Val331Met) SNV Uncertain significance 625979 rs1569548388 GRCh37: X:153296324-153296324
GRCh38: X:154030873-154030873
43 MECP2 NM_001110792.2(MECP2):c.961C>T (p.Arg321Trp) SNV Uncertain significance 143749 rs61751444 GRCh37: X:153296354-153296354
GRCh38: X:154030903-154030903
44 MECP2 NM_004992.3(MECP2):c.27-55G>A SNV Uncertain significance 156047 rs267608414 GRCh37: X:153298063-153298063
GRCh38: X:154032612-154032612
45 MECP2 NM_004992.3(MECP2):c.377+18C>G SNV Uncertain significance 156051 rs267608461 GRCh37: X:153297640-153297640
GRCh38: X:154032189-154032189
46 MECP2 NM_004992.3(MECP2):c.377+6_377+9del Microsatellite Uncertain significance 156059 rs267608459 GRCh37: X:153297649-153297652
GRCh38: X:154032198-154032201
47 MECP2 NM_001110792.2(MECP2):c.236G>T (p.Gly79Val) SNV Uncertain significance 930921 GRCh37: X:153297835-153297835
GRCh38: X:154032384-154032384
48 MECP2 NM_001110792.2(MECP2):c.653G>C (p.Gly218Ala) SNV Uncertain significance 143638 rs63485860 GRCh37: X:153296662-153296662
GRCh38: X:154031211-154031211
49 MECP2 NM_001110792.2(MECP2):c.1351G>A (p.Ala451Thr) SNV Likely benign 143458 rs61753973 GRCh37: X:153295964-153295964
GRCh38: X:154030513-154030513
50 MECP2 NM_001110792.2(MECP2):c.6_8CGC[8] (p.Ala7_Ala8dup) Microsatellite Benign 189763 rs398123566 GRCh37: X:153363099-153363100
GRCh38: X:154097642-154097643

Expression for Autism X-Linked 3

Search GEO for disease gene expression data for Autism X-Linked 3.

Pathways for Autism X-Linked 3

GO Terms for Autism X-Linked 3

Sources for Autism X-Linked 3

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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