AUTSX4
MCID: ATS268
MIFTS: 25

Autism X-Linked 4 (AUTSX4)

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

Aliases & Classifications for Autism X-Linked 4

MalaCards integrated aliases for Autism X-Linked 4:

Name: Autism X-Linked 4 56
Autism, Susceptibility to, X-Linked 4 56 29 6
Chromosome Xp22 Deletion Syndrome 56 73 71
Autsx4 56 73
X-Linked Susceptibility to Autism-4 52
Susceptibility to Autism, X-Linked 52
Autism, X-Linked 4 73

Characteristics:

OMIM:

56
Miscellaneous:
onset in infancy
variable severity
nonspecific subtle dysmorphic facial features may be present
most patients have contiguous gene deletion syndrome involving xp22

Inheritance:
x-linked recessive


HPO:

31
autism x-linked 4:
Onset and clinical course variable expressivity infantile onset
Inheritance x-linked recessive inheritance


Classifications:



External Ids:

OMIM 56 300830
OMIM Phenotypic Series 56 PS209850
MeSH 43 D001321
MedGen 41 C0795888
UMLS 71 C0795888

Summaries for Autism X-Linked 4

OMIM : 56 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, stereotypical, 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). Levy et al. (2009) provided a general review of autism and autism spectrum disorder, including epidemiology, characteristics of the disorder, diagnosis, neurobiologic hypotheses for the etiology, genetics, and treatment options. (300830)

MalaCards based summary : Autism X-Linked 4, is also known as autism, susceptibility to, x-linked 4, and has symptoms including tic, motor An important gene associated with Autism X-Linked 4 is PTCHD1 (Patched Domain Containing 1). Affiliated tissues include brain, breast and testes, and related phenotypes are autism and generalized hypotonia

UniProtKB/Swiss-Prot : 73 Autism, X-linked 4: 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 4

Symptoms & Phenotypes for Autism X-Linked 4

Human phenotypes related to Autism X-Linked 4:

31 (show all 7)
# Description HPO Frequency HPO Source Accession
1 autism 31 obligate (100%) HP:0000717
2 generalized hypotonia 31 occasional (7.5%) HP:0001290
3 intellectual disability 31 HP:0001249
4 attention deficit hyperactivity disorder 31 HP:0007018
5 aggressive behavior 31 HP:0000718
6 impulsivity 31 HP:0100710
7 motor tics 31 HP:0100034

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
intellectual disability
motor tics
learning disability
global development delay

Head And Neck Eyes:
visual problems, mild

Muscle Soft Tissue:
hypotonia (in some patients)

Neurologic Behavioral Psychiatric Manifestations:
aggressive behavior
impulsivity
attention deficit-hyperactivity disorder
autism spectrum disorder

Head And Neck Mouth:
orofacial hypotonia

Clinical features from OMIM:

300830

UMLS symptoms related to Autism X-Linked 4:


tic, motor

Drugs & Therapeutics for Autism X-Linked 4

Search Clinical Trials , NIH Clinical Center for Autism X-Linked 4

Genetic Tests for Autism X-Linked 4

Genetic tests related to Autism X-Linked 4:

# Genetic test Affiliating Genes
1 Autism, Susceptibility to, X-Linked 4 29 PTCHD1

Anatomical Context for Autism X-Linked 4

MalaCards organs/tissues related to Autism X-Linked 4:

40
Brain, Breast, Testes

Publications for Autism X-Linked 4

Articles related to Autism X-Linked 4:

(show all 15)
# Title Authors PMID Year
1
Phenotypic spectrum associated with PTCHD1 deletions and truncating mutations includes intellectual disability and autism spectrum disorder. 56 6
25131214 2015
2
Thalamic reticular impairment underlies attention deficit in Ptchd1(Y/-) mice. 56
27007844 2016
3
Genetic/familial high-risk assessment: breast and ovarian, version 1.2014. 6
25190698 2014
4
Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions. 6
23519317 2013
5
Deletion in Xp22.11: PTCHD1 is a candidate gene for X-linked intellectual disability with or without autism. 56
21091464 2011
6
Disruption at the PTCHD1 Locus on Xp22.11 in Autism spectrum disorder and intellectual disability. 56
20844286 2010
7
Fine-scale survey of X chromosome copy number variants and indels underlying intellectual disability. 56
20655035 2010
8
Functional impact of global rare copy number variation in autism spectrum disorders. 56
20531469 2010
9
Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies. 6
20466091 2010
10
Autism. 56
19819542 2009
11
Hypothesis: dysregulation of methylation of brain-expressed genes on the X chromosome and autism spectrum disorders. 56
18698615 2008
12
Structural variation of chromosomes in autism spectrum disorder. 56
18252227 2008
13
Evidence for multiple loci from a genome scan of autism kindreds. 56
16880825 2006
14
A genomic screen of autism: evidence for a multilocus etiology. 56
10417292 1999
15
Autism: towards an integration of clinical, genetic, neuropsychological, and neurobiological perspectives. 56
8655659 1996

Variations for Autism X-Linked 4

ClinVar genetic disease variations for Autism X-Linked 4:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 PTCHD1 NM_173495.3(PTCHD1):c.2128del (p.Leu710fs)deletion risk factor 209085 rs878854360 X:23411762-23411762 X:23393645-23393645
2 PTCHD1 NM_173495.3(PTCHD1):c.1796dup (p.Asn599fs)duplication risk factor 209086 rs879255587 X:23411429-23411430 X:23393312-23393313
3 PTCHD1 NM_173495.3(PTCHD1):c.1444del (p.Leu482fs)deletion risk factor 209087 rs878854361 X:23411078-23411078 X:23392961-23392961
4 PTCHD1 NM_173495.3(PTCHD1):c.893G>A (p.Trp298Ter)SNV Likely pathogenic 436440 rs1555912102 X:23398249-23398249 X:23380132-23380132
5 FRMPD4 NM_014728.3(FRMPD4):c.3937C>A (p.Arg1313=)SNV Conflicting interpretations of pathogenicity 167103 rs41303149 X:12736882-12736882 X:12718763-12718763
6 PTCHD1 NM_173495.3(PTCHD1):c.95C>T (p.Pro32Leu)SNV Uncertain significance 620004 rs1569130365 X:23353087-23353087 X:23334970-23334970
7 PTCHD1 NM_173495.3(PTCHD1):c.517A>G (p.Ile173Val)SNV Uncertain significance 211971 rs147324438 X:23397873-23397873 X:23379756-23379756
8 PTCHD1 NM_173495.3(PTCHD1):c.907G>A (p.Gly303Arg)SNV Uncertain significance 417957 rs1060499615 X:23398263-23398263 X:23380146-23380146
9 PTCHD1 NM_173495.3(PTCHD1):c.113T>A (p.Leu38Gln)SNV Uncertain significance 431366 rs1135401941 X:23353105-23353105 X:23334988-23334988
10 FRMPD4 NM_014728.3(FRMPD4):c.981T>C (p.Tyr327=)SNV Likely benign 547391 rs779013797 X:12720040-12720040 X:12701921-12701921

Expression for Autism X-Linked 4

Search GEO for disease gene expression data for Autism X-Linked 4.

Pathways for Autism X-Linked 4

GO Terms for Autism X-Linked 4

Sources for Autism X-Linked 4

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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