MCID: ATS268
MIFTS: 21

Autism X-Linked 4

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

Aliases & Classifications for Autism X-Linked 4

MalaCards integrated aliases for Autism X-Linked 4:

Name: Autism X-Linked 4 57
Autism, Susceptibility to, X-Linked 4 57 29 6
Chromosome Xp22 Deletion Syndrome 57 75 73
Autsx4 57 75
X-Linked Susceptibility to Autism-4 53
Susceptibility to Autism, X-Linked 53
Autism, X-Linked 4 75

Characteristics:

OMIM:

57
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:

32
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 : 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, 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, also known as autism, susceptibility to, x-linked 4, is related to x-linked non-specific intellectual disability, and has symptoms including tic, motor An important gene associated with Autism X-Linked 4 is PTCHD1 (Patched Domain Containing 1). Related phenotypes are intellectual disability and autism

UniProtKB/Swiss-Prot : 75 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

Diseases in the Autism X-Linked 2 family:

Autism X-Linked 1 Autism X-Linked 3
Autism X-Linked 4 Autism X-Linked 5
Autism X-Linked 6

Diseases related to Autism X-Linked 4 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 x-linked non-specific intellectual disability 9.0 FRMPD4 PTCHD1

Symptoms & Phenotypes for Autism X-Linked 4

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
intellectual disability
learning disability
global development delay
motor tics

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

Human phenotypes related to Autism X-Linked 4:

32 (show all 7)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 32 HP:0001249
2 autism 32 obligate (100%) HP:0000717
3 attention deficit hyperactivity disorder 32 HP:0007018
4 aggressive behavior 32 HP:0000718
5 impulsivity 32 HP:0100710
6 generalized hypotonia 32 occasional (7.5%) HP:0001290
7 motor tics 32 HP:0100034

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 FRMPD4 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 12)
# Gene Variation Type Significance SNP ID Assembly Location
1 PTCHD1 NM_173495.2(PTCHD1): c.2128delC (p.Leu710Cysfs) deletion risk factor rs878854360 GRCh37 Chromosome X, 23411763: 23411763
2 PTCHD1 NM_173495.2(PTCHD1): c.2128delC (p.Leu710Cysfs) deletion risk factor rs878854360 GRCh38 Chromosome X, 23393646: 23393646
3 PTCHD1 NM_173495.2(PTCHD1): c.1796dupA (p.Asn599Lysfs) duplication risk factor rs879255587 GRCh37 Chromosome X, 23411431: 23411431
4 PTCHD1 NM_173495.2(PTCHD1): c.1796dupA (p.Asn599Lysfs) duplication risk factor rs879255587 GRCh38 Chromosome X, 23393314: 23393314
5 PTCHD1 NM_173495.2(PTCHD1): c.1444delC (p.Leu482Tyrfs) deletion risk factor rs878854361 GRCh38 Chromosome X, 23392962: 23392962
6 PTCHD1 NM_173495.2(PTCHD1): c.1444delC (p.Leu482Tyrfs) deletion risk factor rs878854361 GRCh37 Chromosome X, 23411079: 23411079
7 PTCHD1 NM_173495.2(PTCHD1): c.907G> A (p.Gly303Arg) single nucleotide variant Uncertain significance rs1060499615 GRCh38 Chromosome X, 23380146: 23380146
8 PTCHD1 NM_173495.2(PTCHD1): c.907G> A (p.Gly303Arg) single nucleotide variant Uncertain significance rs1060499615 GRCh37 Chromosome X, 23398263: 23398263
9 PTCHD1 NM_173495.2(PTCHD1): c.113T> A (p.Leu38Gln) single nucleotide variant Uncertain significance rs1135401941 GRCh37 Chromosome X, 23353105: 23353105
10 PTCHD1 NM_173495.2(PTCHD1): c.113T> A (p.Leu38Gln) single nucleotide variant Uncertain significance rs1135401941 GRCh38 Chromosome X, 23334988: 23334988
11 PTCHD1 NM_173495.2(PTCHD1): c.893G> A (p.Trp298Ter) single nucleotide variant Likely pathogenic GRCh38 Chromosome X, 23380132: 23380132
12 PTCHD1 NM_173495.2(PTCHD1): c.893G> A (p.Trp298Ter) single nucleotide variant Likely pathogenic GRCh37 Chromosome X, 23398249: 23398249

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 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
51 NDF-RT
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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