MCID: ATS367
MIFTS: 20

Autism X-Linked 3

Categories: Genetic diseases, Neuronal diseases, Mental 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 13
Autsx3 57 75
Autism, Susceptibility to, X-Linked, Type 3 40
Autism, X-Linked 3 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
allelic disorder to rett syndrome


HPO:

32
autism x-linked 3:
Onset and clinical course childhood onset
Inheritance heterogeneous x-linked inheritance sporadic multifactorial inheritance


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)

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 intellectual disability and seizures

UniProtKB/Swiss-Prot : 75 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

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:

300496

Human phenotypes related to Autism X-Linked 3:

32 (show all 13)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 32 HP:0001249
2 seizures 32 frequent (33%) HP:0001250
3 eeg abnormality 32 frequent (33%) 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 increased serum serotonin 32 frequent (33%) HP:0003144
10 lack of spontaneous play 32 HP:0000721
11 inflexible adherence to routines or rituals 32 HP:0000732
12 lack of peer relationships 32 HP:0002332
13 disturbance of facial expression 32 HP:0005324

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

Anatomical Context for Autism X-Linked 3

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

41
Eye

Publications for Autism X-Linked 3

Variations for Autism X-Linked 3

ClinVar genetic disease variations for Autism X-Linked 3:

6
(show all 21)
# 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_001110792.1(MECP2): c.1483G> T (p.Glu495Ter) single nucleotide variant risk factor rs587777421 GRCh37 Chromosome X, 153295832: 153295832
11 MECP2 NM_001110792.1(MECP2): c.1483G> T (p.Glu495Ter) single nucleotide variant risk factor rs587777421 GRCh38 Chromosome X, 154030381: 154030381
12 MECP2 NM_004992.3(MECP2): c.1157_1197del41 (p.Leu386Hisfs) deletion Pathogenic rs267608327 GRCh37 Chromosome X, 153296082: 153296122
13 MECP2 NM_004992.3(MECP2): c.1157_1197del41 (p.Leu386Hisfs) deletion Pathogenic rs267608327 GRCh38 Chromosome X, 154030631: 154030671
14 MECP2 NM_004992.3(MECP2): c.1164_1207del44 (p.Pro389Terfs) deletion Pathogenic rs61752992 GRCh37 Chromosome X, 153296072: 153296115
15 MECP2 NM_004992.3(MECP2): c.1164_1207del44 (p.Pro389Terfs) deletion Pathogenic rs61752992 GRCh38 Chromosome X, 154030621: 154030664
16 MECP2 NM_004992.3(MECP2): c.27-55G> A single nucleotide variant Uncertain significance rs267608414 GRCh38 Chromosome X, 154032612: 154032612
17 MECP2 NM_004992.3(MECP2): c.27-55G> A single nucleotide variant Uncertain significance rs267608414 GRCh37 Chromosome X, 153298063: 153298063
18 MECP2 NM_004992.3(MECP2): c.377+18C> G single nucleotide variant Likely benign rs267608461 GRCh37 Chromosome X, 153297640: 153297640
19 MECP2 NM_004992.3(MECP2): c.377+18C> G single nucleotide variant Likely benign rs267608461 GRCh38 Chromosome X, 154032189: 154032189
20 MECP2 NM_004992.3(MECP2): c.377+6_377+9delTAAG deletion Likely benign rs267608459 GRCh37 Chromosome X, 153297649: 153297652
21 MECP2 NM_004992.3(MECP2): c.377+6_377+9delTAAG deletion Likely benign rs267608459 GRCh38 Chromosome X, 154032198: 154032201

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 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
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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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