ATP6AP2 gene related symptoms and diseases

All the information presented here about the ATP6AP2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,HGNC,NCBIGENE,ORPHANET, 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 ATP6AP2 gene

Symptoms // Phenotype	% Cases
Babinski sign	Very Common - Between 80% and 100% cases
Rigidity	Very Common - Between 80% and 100% cases
Resting tremor	Very Common - Between 80% and 100% cases
Seizures	Very Common - Between 80% and 100% cases
Bradykinesia	Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with ATP6AP2 gene alterations may also develop some of the following symptoms and phenotypes:

Commonly - More than 50% cases
Tremor
Parkinsonism
Not very common - Between 30% and 50% cases
Agraphesthesia
Astereognosia
Spasticity
Hyperreflexia
Dyskinesia
Neuronal loss in central nervous system

And 34 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to ATP6AP2 gene

Here you will find a list of rare diseases related to the ATP6AP2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.

X-LINKED INTELLECTUAL DISABILITY, HEDERA TYPE

Alternate names

X-LINKED INTELLECTUAL DISABILITY, HEDERA TYPE Is also known as mental retardation, x-linked, with epilepsy, mrxsh, mrxe

Description

X-linked intellectual disability, Hedera type is a rare X-linked intellectual disability syndrome characterized by an onset in infancy of delayed motor and speech milestones, generalized tonic-clonic seizures and drop attacks, and mild to moderate intellectual disability. Additional, less common manifestations include scoliosis, ataxia (resulting in progressive gait disturbance), and bilateral pes planovalgus. Physical appearance is normal with no dysmorphic features reported.

Most common symptoms of X-LINKED INTELLECTUAL DISABILITY, HEDERA TYPE

Intellectual disability
Seizures
Global developmental delay
Scoliosis
Cognitive impairment

More info about X-LINKED INTELLECTUAL DISABILITY, HEDERA TYPE

SOURCES: OMIM ORPHANET MESH

X-LINKED PARKINSONISM-SPASTICITY SYNDROME

Alternate names

X-LINKED PARKINSONISM-SPASTICITY SYNDROME Is also known as xpds

Description

X-linked parkinsonism-spasticity syndrome is a rare genetic neurological disorder characterized by parkinsonian features (including resting or action tremor, cogwheel rigidity, hypomimia and bradykinesia) associated with variably penetrant spasticity, hyperactive deep tendon reflexes and Babinski sign.

Most common symptoms of X-LINKED PARKINSONISM-SPASTICITY SYNDROME

Seizures
Spasticity
Hyperreflexia
Tremor
Babinski sign

More info about X-LINKED PARKINSONISM-SPASTICITY SYNDROME

SOURCES: ORPHANET OMIM

Search interest in ATP6AP2

Potential gene panels for ATP6AP2 gene

Epilepsy Advanced Sequencing and CNV Evaluation Panel

United States.

By Athena Diagnostics Inc Epilepsy Advanced Sequencing and CNV Evaluation that also includes the following genes: SCN1A SCN1B SCN2A SCN3A SCN5A SCN8A SCN9A SHH ST3GAL3 ST3GAL5

ATP6AP2 gene related symptoms and diseases

Top 5 symptoms and clinical features associated to ATP6AP2 gene

Other less frequent symptoms and clinical features

Commonly - More than 50% cases

Not very common - Between 30% and 50% cases

Rare diseases associated to ATP6AP2 gene

X-LINKED INTELLECTUAL DISABILITY, HEDERA TYPE

Alternate names

Description

Most common symptoms of X-LINKED INTELLECTUAL DISABILITY, HEDERA TYPE

X-LINKED PARKINSONISM-SPASTICITY SYNDROME

Alternate names

Description

Most common symptoms of X-LINKED PARKINSONISM-SPASTICITY SYNDROME

Search interest in ATP6AP2

Potential gene panels for ATP6AP2 gene

Epilepsy Advanced Sequencing and CNV Evaluation Panel

Epilepsy Advanced Sequencing and CNV Evaluation - Intellectual Disability Panel

NGS XLID Panel Panel

NGS Epilepsy/Seizure Panel Panel

Mental Retardation, X-linked, Syndromic, Hedera type, ATP6AP2 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

Comprehensive Epilepsy Panel Panel

Infantile Epilepsy Panel Panel

ATP6AP2. Complete sequencing Panel

Mental retardation, X-linked, syndromic, Hedera type (sequence analysis of ATP6AP2 gene) Panel

Parkinson disease (NGS panel for 33 genes) Panel

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

Lysosomal and peroxisomal diseases (NGS panel of 109 genes) Panel

Lysosomal and peroxisomal diseases (NGS panel of 109 genes) Panel

Comprehensive Epilepsy and Seizure Sequencing Panel with CNV Detection Panel

X-Linked Intellectual Disability Sequencing Panel with CNV Detection Panel

Parkinsonism with Spasticity and Mental Retardation with Epilepsy, Hedera Type via ATP6AP2 Gene Sequencing with CNV Detection Panel

Epilepsy and Seizure Plus Sequencing Panel with CNV Detection Panel

Parkinson Disease and Parkinsonism 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

Epileptic syndromes with epilepsy and intellectual disability panel Panel

AllNeuro panel Panel

Mental retardation, X-linked with epilepsy Panel

Parkinsons disease panel Panel

Epilepsy and X-linked Mental Retardation with Seizures Panel Panel

Parkinson all Panel Panel

Atypical Parkinson syndrome Panel Panel

Single gene testing ATP6AP2 Panel

Epilepsy Panel

NGS panel - Parkinson Panel

XLMR with Epilepsy: ATP6AP2 Full Gene Sequencing Panel

XLMR with Epilepsy: ATP6AP2 Gene Deletion/Duplication Panel

Epilepsy and Seizure Disorders: Sequencing Panel Panel

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

Neurology: Sequencing Panel Panel

Epilepsy and Seizure Disorders: Deletion/Duplication Panel Panel

Epilepsy NGS Panel Panel

Intellectual Disability NGS Panel Panel

XLID NGS Panel Panel

ATP6AP2 Panel

Idiopathic Generalized Epilepsy NGS Panel Panel

Early-Onset Epileptic Encephalopathy NGS Panel Panel

Comprehensive Epilepsy NGS Panel Panel

X-chromosome High Resolution microarray analysis Panel

X-linked Intellectual Disability Panel Panel

Mental retardation, X-linked, syndromic, Hedera type Panel

INTELLECTUAL DEFICIT AND EPILEPSY (X-LINKED) Panel

PARKINSON NGS PANEL Panel

X-Linked Mental Retardation with Epilepsy Type Hedera , Sequencing ATP6AP2 Gene Panel