AUTSX4
MCID: ATS268
MIFTS: 19

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 58
Autism, Susceptibility to, X-Linked 4 58 30 6
Chromosome Xp22 Deletion Syndrome 58 76 74
Autsx4 58 76
X-Linked Susceptibility to Autism-4 54
Susceptibility to Autism, X-Linked 54
Autism, X-Linked 4 76

Characteristics:

OMIM:

58
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:

33
autism x-linked 4:
Onset and clinical course variable expressivity infantile onset
Inheritance x-linked recessive inheritance


Classifications:



Summaries for Autism X-Linked 4

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, 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). Related phenotypes are autism and generalized hypotonia

UniProtKB/Swiss-Prot : 76 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:

33 (show all 7)
# Description HPO Frequency HPO Source Accession
1 autism 33 obligate (100%) HP:0000717
2 generalized hypotonia 33 occasional (7.5%) HP:0001290
3 intellectual disability 33 HP:0001249
4 attention deficit hyperactivity disorder 33 HP:0007018
5 aggressive behavior 33 HP:0000718
6 impulsivity 33 HP:0100710
7 motor tics 33 HP:0100034

Symptoms via clinical synopsis from OMIM:

58
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 30 PTCHD1

Anatomical Context for Autism X-Linked 4

Publications for Autism X-Linked 4

Variations for Autism X-Linked 4

ClinVar genetic disease variations for Autism X-Linked 4:

6 (show all 18)
# Gene Variation Type Significance SNP ID Assembly Location
1 FRMPD4 NM_014728.3(FRMPD4): c.3937C> A (p.Arg1313=) single nucleotide variant Conflicting interpretations of pathogenicity rs41303149 GRCh37 Chromosome X, 12736882: 12736882
2 FRMPD4 NM_014728.3(FRMPD4): c.3937C> A (p.Arg1313=) single nucleotide variant Conflicting interpretations of pathogenicity rs41303149 GRCh38 Chromosome X, 12718763: 12718763
3 PTCHD1 NM_173495.2(PTCHD1): c.2128delC (p.Leu710Cysfs) deletion risk factor rs878854360 GRCh37 Chromosome X, 23411763: 23411763
4 PTCHD1 NM_173495.2(PTCHD1): c.2128delC (p.Leu710Cysfs) deletion risk factor rs878854360 GRCh38 Chromosome X, 23393646: 23393646
5 PTCHD1 NM_173495.2(PTCHD1): c.1796dupA (p.Asn599Lysfs) duplication risk factor rs879255587 GRCh37 Chromosome X, 23411431: 23411431
6 PTCHD1 NM_173495.2(PTCHD1): c.1796dupA (p.Asn599Lysfs) duplication risk factor rs879255587 GRCh38 Chromosome X, 23393314: 23393314
7 PTCHD1 NM_173495.2(PTCHD1): c.1444delC (p.Leu482Tyrfs) deletion risk factor rs878854361 GRCh38 Chromosome X, 23392962: 23392962
8 PTCHD1 NM_173495.2(PTCHD1): c.1444delC (p.Leu482Tyrfs) deletion risk factor rs878854361 GRCh37 Chromosome X, 23411079: 23411079
9 PTCHD1 NM_173495.2(PTCHD1): c.907G> A (p.Gly303Arg) single nucleotide variant Uncertain significance rs1060499615 GRCh38 Chromosome X, 23380146: 23380146
10 PTCHD1 NM_173495.2(PTCHD1): c.907G> A (p.Gly303Arg) single nucleotide variant Uncertain significance rs1060499615 GRCh37 Chromosome X, 23398263: 23398263
11 PTCHD1 NM_173495.2(PTCHD1): c.113T> A (p.Leu38Gln) single nucleotide variant Uncertain significance rs1135401941 GRCh37 Chromosome X, 23353105: 23353105
12 PTCHD1 NM_173495.2(PTCHD1): c.113T> A (p.Leu38Gln) single nucleotide variant Uncertain significance rs1135401941 GRCh38 Chromosome X, 23334988: 23334988
13 PTCHD1 NM_173495.2(PTCHD1): c.893G> A (p.Trp298Ter) single nucleotide variant Likely pathogenic rs1555912102 GRCh37 Chromosome X, 23398249: 23398249
14 PTCHD1 NM_173495.2(PTCHD1): c.893G> A (p.Trp298Ter) single nucleotide variant Likely pathogenic rs1555912102 GRCh38 Chromosome X, 23380132: 23380132
15 FRMPD4 NM_014728.3(FRMPD4): c.981T> C (p.Tyr327=) single nucleotide variant Likely benign rs779013797 GRCh37 Chromosome X, 12720040: 12720040
16 FRMPD4 NM_014728.3(FRMPD4): c.981T> C (p.Tyr327=) single nucleotide variant Likely benign rs779013797 GRCh38 Chromosome X, 12701921: 12701921
17 PTCHD1 NM_173495.3(PTCHD1): c.95C> T (p.Pro32Leu) single nucleotide variant Uncertain significance GRCh38 Chromosome X, 23334970: 23334970
18 PTCHD1 NM_173495.3(PTCHD1): c.95C> T (p.Pro32Leu) single nucleotide variant Uncertain significance GRCh37 Chromosome X, 23353087: 23353087

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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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