AUTSX3
MCID: ATS367
MIFTS: 22

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 58
Autism, Susceptibility to, X-Linked 3 58 30 6
Autism Susceptibility, X-Linked 3 58 13
Autsx3 58 76
Autism, Susceptibility to, X-Linked, Type 3 41
Autism, X-Linked 3 76

Characteristics:

OMIM:

58
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:

33
autism x-linked 3:
Onset and clinical course childhood onset
Inheritance heterogeneous x-linked inheritance multifactorial inheritance sporadic


Classifications:



Summaries for Autism X-Linked 3

OMIM : 58 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)

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 related phenotypes are seizures and eeg abnormality

UniProtKB/Swiss-Prot : 76 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:

33 (show all 13)
# Description HPO Frequency HPO Source Accession
1 seizures 33 frequent (33%) HP:0001250
2 eeg abnormality 33 frequent (33%) HP:0002353
3 increased serum serotonin 33 frequent (33%) HP:0003144
4 intellectual disability 33 HP:0001249
5 delayed speech and language development 33 HP:0000750
6 stereotypy 33 HP:0000733
7 autism 33 HP:0000717
8 impaired use of nonverbal behaviors 33 HP:0000758
9 restrictive behavior 33 HP:0000723
10 lack of peer relationships 33 HP:0002332
11 lack of spontaneous play 33 HP:0000721
12 inflexible adherence to routines or rituals 33 HP:0000732
13 disturbance of facial expression 33 HP:0005324

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
lack of peer relationships
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
more
Laboratory Abnormalities:
increased serum serotonin in 25%

Clinical features from OMIM:

300496

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 30 MECP2

Anatomical Context for Autism X-Linked 3

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

42
Eye

Publications for Autism X-Linked 3

Articles related to Autism X-Linked 3:

# Title Authors Year
1
Using whole-exome sequencing to identify inherited causes of autism. ( 23352163 )
2013
2
Investigating genotype-phenotype relationships in Rett syndrome using an international data set. ( 18332345 )
2008
3
Identification of MeCP2 mutations in a series of females with autistic disorder. ( 12770674 )
2003
4
Preserved speech variant is allelic of classic Rett syndrome. ( 10854091 )
2000

Variations for Autism X-Linked 3

ClinVar genetic disease variations for Autism X-Linked 3:

6 (show top 50) (show all 77)
# Gene Variation Type Significance SNP ID Assembly Location
1 MECP2 NM_004992.3(MECP2): c.473C> T (p.Thr158Met) single nucleotide variant Pathogenic/Likely pathogenic rs28934906 GRCh37 Chromosome X, 153296806: 153296806
2 MECP2 NM_004992.3(MECP2): c.473C> T (p.Thr158Met) single nucleotide variant Pathogenic/Likely pathogenic rs28934906 GRCh38 Chromosome X, 154031355: 154031355
3 MECP2 NM_004992.3(MECP2): c.808C> T (p.Arg270Ter) single nucleotide variant Pathogenic rs61750240 GRCh37 Chromosome X, 153296471: 153296471
4 MECP2 NM_004992.3(MECP2): c.808C> T (p.Arg270Ter) single nucleotide variant Pathogenic rs61750240 GRCh38 Chromosome X, 154031020: 154031020
5 MECP2 NM_001110792.1(MECP2): c.916C> T (p.Arg306Ter) single nucleotide variant Pathogenic/Likely pathogenic,risk factor rs61751362 GRCh37 Chromosome X, 153296399: 153296399
6 MECP2 NM_001110792.1(MECP2): c.916C> T (p.Arg306Ter) single nucleotide variant Pathogenic/Likely pathogenic,risk factor rs61751362 GRCh38 Chromosome X, 154030948: 154030948
7 MECP2 MECP2, 41-BP DEL, NT1157 deletion Pathogenic,risk factor
8 MECP2 NM_004992.3(MECP2): c.763C> T (p.Arg255Ter) single nucleotide variant Pathogenic/Likely pathogenic rs61749721 GRCh37 Chromosome X, 153296516: 153296516
9 MECP2 NM_004992.3(MECP2): c.763C> T (p.Arg255Ter) single nucleotide variant Pathogenic/Likely pathogenic rs61749721 GRCh38 Chromosome X, 154031065: 154031065
10 MECP2 NM_004992.3(MECP2): c.454C> G (p.Pro152Ala) single nucleotide variant Pathogenic rs179363900 GRCh37 Chromosome X, 153296825: 153296825
11 MECP2 NM_004992.3(MECP2): c.454C> G (p.Pro152Ala) single nucleotide variant Pathogenic rs179363900 GRCh38 Chromosome X, 154031374: 154031374
12 MECP2 NM_004992.3(MECP2): c.898G> A (p.Val300Ile) single nucleotide variant Uncertain significance rs61751370 GRCh37 Chromosome X, 153296381: 153296381
13 MECP2 NM_004992.3(MECP2): c.898G> A (p.Val300Ile) single nucleotide variant Uncertain significance rs61751370 GRCh38 Chromosome X, 154030930: 154030930
14 MECP2 NM_001110792.1(MECP2): c.1483G> T (p.Glu495Ter) single nucleotide variant risk factor rs587777421 GRCh37 Chromosome X, 153295832: 153295832
15 MECP2 NM_001110792.1(MECP2): c.1483G> T (p.Glu495Ter) single nucleotide variant risk factor rs587777421 GRCh38 Chromosome X, 154030381: 154030381
16 MECP2 NM_004992.3(MECP2): c.*2956G> A single nucleotide variant Uncertain significance rs267608358 GRCh38 Chromosome X, 154027411: 154027411
17 MECP2 NM_004992.3(MECP2): c.*3658C> T single nucleotide variant Uncertain significance rs267608359 GRCh37 Chromosome X, 153292160: 153292160
18 MECP2 NM_004992.3(MECP2): c.*5348T> C single nucleotide variant Uncertain significance rs267608346 GRCh38 Chromosome X, 154025019: 154025019
19 MECP2 NM_004992.3(MECP2): c.*861T> G single nucleotide variant Uncertain significance rs187614438 GRCh37 Chromosome X, 153294957: 153294957
20 MECP2 NM_004992.3(MECP2): c.*861T> G single nucleotide variant Uncertain significance rs187614438 GRCh38 Chromosome X, 154029506: 154029506
21 MECP2 NM_004992.3(MECP2): c.*3658C> T single nucleotide variant Uncertain significance rs267608359 GRCh38 Chromosome X, 154026709: 154026709
22 MECP2 NM_004992.3(MECP2): c.*544G> A single nucleotide variant Uncertain significance rs183349022 GRCh37 Chromosome X, 153295274: 153295274
23 MECP2 NM_004992.3(MECP2): c.*5348T> C single nucleotide variant Uncertain significance rs267608346 GRCh37 Chromosome X, 153290470: 153290470
24 MECP2 NM_004992.3(MECP2): c.*554G> A single nucleotide variant Uncertain significance rs267608353 GRCh37 Chromosome X, 153295264: 153295264
25 MECP2 NM_004992.3(MECP2): c.*554G> A single nucleotide variant Uncertain significance rs267608353 GRCh38 Chromosome X, 154029813: 154029813
26 MECP2 NM_004992.3(MECP2): c.*2556T> A single nucleotide variant Uncertain significance rs267608356 GRCh37 Chromosome X, 153293262: 153293262
27 MECP2 NM_004992.3(MECP2): c.*767G> T single nucleotide variant Uncertain significance rs267608354 GRCh37 Chromosome X, 153295051: 153295051
28 MECP2 NM_004992.3(MECP2): c.*2556T> A single nucleotide variant Uncertain significance rs267608356 GRCh38 Chromosome X, 154027811: 154027811
29 MECP2 NM_004992.3(MECP2): c.*2657G> A single nucleotide variant Uncertain significance rs3027921 GRCh37 Chromosome X, 153293161: 153293161
30 MECP2 NM_004992.3(MECP2): c.*371G> C single nucleotide variant Uncertain significance rs187851059 GRCh37 Chromosome X, 153295447: 153295447
31 MECP2 NM_004992.3(MECP2): c.*371G> C single nucleotide variant Uncertain significance rs187851059 GRCh38 Chromosome X, 154029996: 154029996
32 MECP2 NM_004992.3(MECP2): c.*544G> A single nucleotide variant Uncertain significance rs183349022 GRCh38 Chromosome X, 154029823: 154029823
33 MECP2 NM_004992.3(MECP2): c.*767G> T single nucleotide variant Uncertain significance rs267608354 GRCh38 Chromosome X, 154029600: 154029600
34 MECP2 NM_004992.3(MECP2): c.*2706G> A single nucleotide variant Uncertain significance rs267608357 GRCh38 Chromosome X, 154027661: 154027661
35 MECP2 NM_004992.3(MECP2): c.*2956G> A single nucleotide variant Uncertain significance rs267608358 GRCh37 Chromosome X, 153292862: 153292862
36 MECP2 NM_004992.3(MECP2): c.*2657G> A single nucleotide variant Uncertain significance rs3027921 GRCh38 Chromosome X, 154027710: 154027710
37 MECP2 NM_004992.3(MECP2): c.*2706G> A single nucleotide variant Uncertain significance rs267608357 GRCh37 Chromosome X, 153293112: 153293112
38 MECP2 NM_004992.3(MECP2): c.*1368C> A single nucleotide variant Uncertain significance rs267608355 GRCh37 Chromosome X, 153294450: 153294450
39 MECP2 NM_004992.3(MECP2): c.*1368C> A single nucleotide variant Uncertain significance rs267608355 GRCh38 Chromosome X, 154028999: 154028999
40 MECP2 NM_004992.3(MECP2): c.*177G> C single nucleotide variant Uncertain significance rs267608345 GRCh37 Chromosome X, 153295641: 153295641
41 MECP2 NM_004992.3(MECP2): c.*177G> C single nucleotide variant Uncertain significance rs267608345 GRCh38 Chromosome X, 154030190: 154030190
42 MECP2 NM_004992.3(MECP2): c.*204G> A single nucleotide variant Uncertain significance rs267608352 GRCh37 Chromosome X, 153295614: 153295614
43 MECP2 NM_004992.3(MECP2): c.*204G> A single nucleotide variant Uncertain significance rs267608352 GRCh38 Chromosome X, 154030163: 154030163
44 MECP2 NM_004992.3(MECP2): c.1127C> G (p.Pro376Arg) single nucleotide variant Uncertain significance rs61752976 GRCh37 Chromosome X, 153296152: 153296152
45 MECP2 NM_004992.3(MECP2): c.1127C> G (p.Pro376Arg) single nucleotide variant Uncertain significance rs61752976 GRCh38 Chromosome X, 154030701: 154030701
46 MECP2 NM_004992.3(MECP2): c.1157_1197del41 (p.Leu386Hisfs) deletion Pathogenic rs267608327 GRCh37 Chromosome X, 153296082: 153296122
47 MECP2 NM_004992.3(MECP2): c.1157_1197del41 (p.Leu386Hisfs) deletion Pathogenic rs267608327 GRCh38 Chromosome X, 154030631: 154030671
48 MECP2 NM_001110792.1(MECP2): c.1200_1243del44 (p.Pro401Terfs) deletion Pathogenic rs61752992 GRCh37 Chromosome X, 153296072: 153296115
49 MECP2 NM_001110792.1(MECP2): c.1200_1243del44 (p.Pro401Terfs) deletion Pathogenic rs61752992 GRCh38 Chromosome X, 154030621: 154030664
50 MECP2 NM_004992.3(MECP2): c.1315G> A (p.Ala439Thr) single nucleotide variant Benign/Likely benign rs61753973 GRCh37 Chromosome X, 153295964: 153295964

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

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17 EFO
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70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
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75 UMLS via Orphanet
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