MCID: ATS268
MIFTS: 25

Autism X-Linked 4

Categories: Genetic diseases, Rare diseases

Aliases & Classifications for Autism X-Linked 4

MalaCards integrated aliases for Autism X-Linked 4:

Name: Autism X-Linked 4 54
Chromosome Xp22 Deletion Syndrome 71 69
Autism, Susceptibility to, X-Linked 4 29
X-Linked Susceptibility to Autism-4 50
Susceptibility to Autism, X-Linked 50
Autism, X-Linked 4 71
Autsx4 71

Characteristics:

OMIM:

54
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 : 54
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 chromosome xp22 deletion syndrome, and has symptoms including intellectual disability, autism and aggressive behavior. An important gene associated with Autism X-Linked 4 is PTCHD1 (Patched Domain Containing 1). The drugs Acamprosate and Ethanol have been mentioned in the context of this disorder.

UniProtKB/Swiss-Prot : 71 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

Symptoms via clinical synopsis from OMIM:

54

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

Muscle Soft Tissue:
hypotonia (in some patients)

Head And Neck- Mouth:
orofacial hypotonia

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

Head And Neck- Eyes:
visual problems, mild


Clinical features from OMIM:

300830

Human phenotypes related to Autism X-Linked 4:

32 (show all 7)
id Description HPO Frequency HPO Source Accession
1 intellectual disability 32 HP:0001249
2 autism 32 obligate (100%) HP:0000717
3 aggressive behavior 32 HP:0000718
4 muscular hypotonia 32 occasional (7.5%) HP:0001252
5 impulsivity 32 HP:0100710
6 attention deficit hyperactivity disorder 32 HP:0007018
7 motor tics 32 HP:0100034

UMLS symptoms related to Autism X-Linked 4:


tic, motor

Drugs & Therapeutics for Autism X-Linked 4

Drugs for Autism X-Linked 4 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 22)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Acamprosate Approved, Investigational Phase 3 77337-76-9 71158
2
Ethanol Approved Phase 3 64-17-5 702
3
Sertraline Approved Phase 2 79617-96-2 68617
4
Lovastatin Approved, Investigational Phase 2 75330-75-5 53232
5
Minocycline Approved, Investigational Phase 2 10118-90-8 5281021
6 Antidepressive Agents Phase 2
7 Neurotransmitter Agents Phase 2
8 Neurotransmitter Uptake Inhibitors Phase 2
9 Psychotropic Drugs Phase 2
10
Serotonin Phase 2 50-67-9 5202
11 Serotonin Agents Phase 2
12 Serotonin Uptake Inhibitors Phase 2
13 Anti-Bacterial Agents Phase 2
14 Anticholesteremic Agents Phase 2
15 Anti-Infective Agents Phase 2
16 Antimetabolites Phase 2
17 Dihydromevinolin Phase 2
18 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 2
19 Hypolipidemic Agents Phase 2
20 L 647318 Phase 2
21 Lipid Regulating Agents Phase 2
22
Creatine Nutraceutical 57-00-1 586

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Acamprosate in Youth With Fragile X Syndrome Completed NCT01300923 Phase 3 Acamprosate
2 Trial of Sertraline to Treat Children With Fragile X Syndrome Completed NCT01474746 Phase 2 Sertraline;Placebo
3 Safety, Tolerability and Efficacy Study of STX209 in Subjects With Fragile X Syndrome Completed NCT00788073 Phase 2 STX209;Placebo
4 Combined Treatment of Minocycline and Lovastatin to Treat Individuals With Fragile X Syndrome Recruiting NCT02680379 Phase 2 Minocycline, then Minocycline/Lovastatin;Lovastatin, then Minocycline/Lovastatin
5 Treatment of Rett Syndrome With rhIGF-1 (Mecasermin [rDNA]Injection) Completed NCT01253317 Phase 1 rhIGF-1
6 Effects of Creatine Supplementation in Rett Syndrome Completed NCT01147575
7 A Long-Term Study of Cholesterol Supplements for Smith-Lemli-Opitz Syndrome Withdrawn NCT01413425

Search NIH Clinical Center for Autism X-Linked 4

Genetic Tests for Autism X-Linked 4

Genetic tests related to Autism X-Linked 4:

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

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
id 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.1796dupA (p.Asn599Lysfs) duplication risk factor rs879255587 GRCh37 Chromosome X, 23411431: 23411431
3 PTCHD1 NM_173495.2(PTCHD1): c.1444delC (p.Leu482Tyrfs) deletion risk factor rs878854361 GRCh38 Chromosome X, 23392962: 23392962
4 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
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....