ATAD3A gene related symptoms and diseases

All the information presented here about the ATAD3A gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,OMIM,NCBIGENE,HGNC, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to ATAD3A gene

Symptoms // Phenotype % Cases
Intellectual disability Very Common - Between 80% and 100% cases
Abnormality of the foot Very Common - Between 80% and 100% cases
Mandibular prognathia Very Common - Between 80% and 100% cases
High forehead Very Common - Between 80% and 100% cases
Deeply set eye Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with ATAD3A gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Hypertrophic cardiomyopathy
  • Muscular hypotonia of the trunk
  • Pectus carinatum
  • Congenital cataract
  • Delayed puberty
  • Peripheral axonal neuropathy
  • Upslanted palpebral fissure
  • Long face

And 32 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to ATAD3A gene

Here you will find a list of rare diseases related to the ATAD3A. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


OPTIC ATROPHY-PERIPHERAL NEUROPATHY-DEVELOPMENTAL DELAY SYNDROME


Alternate names

OPTIC ATROPHY-PERIPHERAL NEUROPATHY-DEVELOPMENTAL DELAY SYNDROME Is also known as harel-yoon syndrome

Description

Harel-Yoon syndrome is a syndromic neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability, truncal hypotonia, spasticity, and peripheral neuropathy. Other more variable features such as optic atrophy may also occur. Laboratory studies in some patients show evidence of mitochondrial dysfunction (summary by Harel et al., 2016).

Most common symptoms of OPTIC ATROPHY-PERIPHERAL NEUROPATHY-DEVELOPMENTAL DELAY SYNDROME

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis


More info about OPTIC ATROPHY-PERIPHERAL NEUROPATHY-DEVELOPMENTAL DELAY SYNDROME

SOURCES: ORPHANET OMIM


Potential gene panels for ATAD3A gene

Spastic Paraplegia Panel Panel

Finland.

By Blueprint Genetics Spastic Paraplegia Panel that also includes the following genes: SACS SLC16A2 SLC25A15 KDM5C BTD SPG11 ATL1 SPAST SPG7 SPR

More info about this panel

Charcot-Marie-Tooth Neuropathy Panel Panel

Finland.

By Blueprint Genetics Charcot-Marie-Tooth Neuropathy Panel that also includes the following genes: SACS SBF1 SCN11A SCN9A DST SLC12A6 SPG11 ATL1 SPTLC1 SPTLC2

More info about this panel


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