ADNP gene related symptoms and diseases

All the information presented here about the ADNP gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,HGNC,ORPHANET,NCBIGENE, 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 ADNP gene

Symptoms // Phenotype	% Cases
Intellectual disability	Very Common - Between 80% and 100% cases
Sparse scalp hair	Very Common - Between 80% and 100% cases
Autistic behavior	Very Common - Between 80% and 100% cases
Coloboma	Very Common - Between 80% and 100% cases
Attention deficit hyperactivity disorder	Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

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

Commonly - More than 50% cases
Microtia
Broad forehead
Hypermetropia
Smooth philtrum
Astigmatism
Joint hypermobility
Hirsutism
Iris coloboma

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

Rare diseases associated to ADNP gene

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

ADNP SYNDROME

Alternate names

ADNP SYNDROME Is also known as adnp-related syndromic intellectual disability-autism spectrum disorder, hvdas, mental retardation, autosomal dominant 28, mrd28, helsmoortel-van der aa syndrome

Description

ADNP syndrome is a rare, syndromic intellectual disability characterized by intellectual disability of various severity, hypotonia, global developmental delay, severely delayed speech, behavioral problems, pain insensitivity, sleep problems, seizures, structural brain anomalies, dysmorphic features, visual problems and autism.

Most common symptoms of ADNP SYNDROME

Intellectual disability
Seizures
Global developmental delay
Short stature
Generalized hypotonia

More info about ADNP SYNDROME

SOURCES: ORPHANET OMIM

Search interest in ADNP

Potential gene panels for ADNP 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

ADNP gene related symptoms and diseases

Top 5 symptoms and clinical features associated to ADNP gene

Other less frequent symptoms and clinical features

Commonly - More than 50% cases

Rare diseases associated to ADNP gene

ADNP SYNDROME

Alternate names

Description

Most common symptoms of ADNP SYNDROME

Search interest in ADNP

Potential gene panels for ADNP gene

Syndromic Autism Panel Panel

Coffin-Siris Syndrome Panel Panel

Cornelia de Lange Syndrome PLUS Sequencing Panel Panel

Non-Specific Intellectual Disability Panel Panel

Coffin-Siris syndrome Sequencing Panel Panel

Coffin-Siris syndrome Deletion/Duplication Panel Panel

Cornelia de Lange PLUS Deletion/Duplication Panel Panel

AutismNext Panel

CustomNext: Neuro Panel

Neurodevelopment-Expanded Panel

IDNext Panel

Helsmoortel-Van der Aa Syndrome via ADNP Gene Sequencing with CNV Detection Panel

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

Autism Spectrum Disorders Sequencing Panel with CNV Detection Panel

Mental retardation - different panels Panel

AllNeuro panel Panel

Autism Spectrum Disorders Panel

ADNP Panel

Autism Spectrum Disorders Panel Panel

HELSMOORTEL-VAN DER AA SYNDROME Panel

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

Autosomal Dominant Mental Retardation , Panel Massive Sequencing (NGS) 31 Genes Panel