AP1S2 gene related symptoms and diseases

All the information presented here about the AP1S2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,NCBIGENE,ORPHANET,HGNC, Mendelian Rare Disease Search Engine.

Table of contents:

Main symptoms and clinical features
Other symptoms and clinical features
Related Diseases
Current trends
Suitable testing panels

Top 5 symptoms and clinical features associated to AP1S2 gene

Symptoms // Phenotype	% Cases
Aggressive behavior	Very Common - Between 80% and 100% cases
Global developmental delay	Very Common - Between 80% and 100% cases
Long face	Very Common - Between 80% and 100% cases
High forehead	Common - Between 50% and 80% cases
Protruding ear	Common - Between 50% and 80% cases

Other less frequent symptoms and clinical features

Patients with AP1S2 gene alterations may also develop some of the following symptoms and phenotypes:

Commonly - More than 50% cases
Generalized hypotonia
Scoliosis
Coarse facial features
Cerebral calcification
Muscular hypotonia
Gait disturbance
Skeletal muscle atrophy
Hydrocephalus

And 56 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to AP1S2 gene

Here you will find a list of rare diseases related to the AP1S2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.

X-LINKED INTELLECTUAL DISABILITY-DANDY-WALKER MALFORMATION-BASAL GANGLIA DISEASE-SEIZURES SYNDROME

Alternate names

X-LINKED INTELLECTUAL DISABILITY-DANDY-WALKER MALFORMATION-BASAL GANGLIA DISEASE-SEIZURES SYNDROME Is also known as mental retardation, x-linked, with dandy-walker malformation, basal ganglia disease, and seizures, mrxs21, mrx59, mental retardation, x-linked 59, mrxs5, mental retardation, x-linked, syndromic, fried type, mrxsf, mental retardation, x-linked, syndromic 21, menta

Description

X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures (XDIBS), or Pettigrew syndrome is a central nervous system malformation characterized by severe intellectual deficit, early hypotonia with progression to spasticity and contractures, choreoathetosis, seizures, dysmorphic face (long face with prominent forehead), and brain imaging abnormalities such as Dandy-Walker malformation (see this term), and iron deposition.

Most common symptoms of X-LINKED INTELLECTUAL DISABILITY-DANDY-WALKER MALFORMATION-BASAL GANGLIA DISEASE-SEIZURES SYNDROME

Intellectual disability
Seizures
Global developmental delay
Generalized hypotonia
Scoliosis

More info about X-LINKED INTELLECTUAL DISABILITY-DANDY-WALKER MALFORMATION-BASAL GANGLIA DISEASE-SEIZURES SYNDROME

SOURCES: ORPHANET OMIM

X-LINKED INTELLECTUAL DISABILITY-HYPOTONIA-FACIAL DYSMORPHISM-AGGRESSIVE BEHAVIOR SYNDROME

Description

X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome is characterised by severe intellectual deficit, hypotonia, mild facial dysmorphism, and aggressive behaviour. It has been described in 10 male members spanning four generations of one family. The facial dysmorphism includes a high forehead, prominent ears, and a small pointed chin. Height and head circumference are reduced. This disorder is transmitted as an X-linked recessive trait and the causative gene maps to Xp22.

Most common symptoms of X-LINKED INTELLECTUAL DISABILITY-HYPOTONIA-FACIAL DYSMORPHISM-AGGRESSIVE BEHAVIOR SYNDROME

Global developmental delay
Short stature
Generalized hypotonia
Microcephaly
Abnormal facial shape

More info about X-LINKED INTELLECTUAL DISABILITY-HYPOTONIA-FACIAL DYSMORPHISM-AGGRESSIVE BEHAVIOR SYNDROME

SOURCES: ORPHANET

FRIED SYNDROME

Description

Fried syndrome is a rare X-linked mental retardation (XLMR) syndrome characterized by psychomotor delay, intellectual deficit, hydrocephalus, and mild facial anomalies.

Most common symptoms of FRIED SYNDROME

Global developmental delay
Hearing impairment
Scoliosis
Muscular hypotonia
High palate

More info about FRIED SYNDROME

SOURCES: ORPHANET

Search interest in AP1S2

Potential gene panels for AP1S2 gene

Syndromic Autism Panel Panel

United States.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center Syndromic Autism Panel that also includes the following genes: SCN1A SCN2A BRAF SLC2A1 SLC9A6 SMC1A KDM5C CDKL5 STXBP1 TBR1

AP1S2 gene related symptoms and diseases

Top 5 symptoms and clinical features associated to AP1S2 gene

Other less frequent symptoms and clinical features

Commonly - More than 50% cases

Rare diseases associated to AP1S2 gene

X-LINKED INTELLECTUAL DISABILITY-DANDY-WALKER MALFORMATION-BASAL GANGLIA DISEASE-SEIZURES SYNDROME

Alternate names

Description

Most common symptoms of X-LINKED INTELLECTUAL DISABILITY-DANDY-WALKER MALFORMATION-BASAL GANGLIA DISEASE-SEIZURES SYNDROME

X-LINKED INTELLECTUAL DISABILITY-HYPOTONIA-FACIAL DYSMORPHISM-AGGRESSIVE BEHAVIOR SYNDROME

Description

Most common symptoms of X-LINKED INTELLECTUAL DISABILITY-HYPOTONIA-FACIAL DYSMORPHISM-AGGRESSIVE BEHAVIOR SYNDROME

FRIED SYNDROME

Description

Most common symptoms of FRIED SYNDROME

Search interest in AP1S2

Potential gene panels for AP1S2 gene

Syndromic Autism Panel Panel

NGS XLID Panel Panel

Dystonia Panel

Movement Disorders Panel Panel

X-Linked Intellectual Disabilities Deletion/Duplication Panel

X-linked Intellectual Disabilities Sequencing Panel

X-Linked Intellectual Disabilities Sequencing and Deletion/Duplication Panel

Non-Specific Intellectual Disability Panel Panel

X-linked Non-Specific Intellectual Disability Panel Panel

Ataxia Exome Panel Panel

Autism/Intellectual Disability/Multiple Anomalies Panel

AP1S2 gene sequence and deletion/duplication Panel

CustomNext: Neuro Panel

Neurodevelopment-Expanded Panel

IDNext Panel

Mental retardation, X-linked type 5 (sequence analysis of AP1S2 gene) Panel

Mental retardation, X-linked (NGS panel for 89 genes) Panel

X-Linked Intellectual Disability Sequencing Panel with CNV Detection Panel

Non-syndromic Intellectual Disability (NS-ID) Sequencing Panel with CNV Detection Panel

Hydrocephalus Sequencing Panel with CNV Detection Panel

Mental retardation - different panels Panel

Mental Retardation and Dysmorphology - panels Panel

Syndromal Diseases - panels Panel

X-Linked Mental Retardation Panel

Brain Malformations / Neuronal Migration Disorders Panel

AllNeuro panel Panel

Mental retardation, X-linked type 59 Panel

qCarrier Plus Panel

Mental retardation, X-linked, non-syndromic Panel

XLMR 59: AP1S2 Full Gene Sequencing Panel

XLMR 59: AP1S2 Gene Deletion/Duplication Panel

X-linked Intellectual Disability: Gene Sequencing and Deletion/Duplication Panel Panel

Autism Spectrum Disorders: Tier 2 Panel Panel

Dystonia: Sequencing Panel Panel

Autism Spectrum Disorders: Tier 2 Deletion/Duplication Panel Panel

Autism NGS Panel Panel

Intellectual Disability NGS Panel Panel

XLID NGS Panel Panel

AP1S2 Panel

X-chromosome High Resolution microarray analysis Panel

X-linked Intellectual Disability Panel Panel

Mental Retardation (Complete Panel) , Panel Massive Sequencing (NGS) 91 Genes Panel

Autism Spectrum Disorders (Expanded Panel) , Panel Massive Sequencing (NGS) 77 Genes Panel

X-Linked Nonsyndromic Mental Retardation , Panel Massive Sequencing (NGS) 31 Genes Panel