1. Mendelian
  2. Rare Disease Genes
  3. ATAD1

ATAD1 gene related symptoms and diseases

All the information presented here about the ATAD1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,NCBIGENE,HGNC,ORPHANET, Mendelian Rare Disease Search Engine.

Table of contents:

Top 5 symptoms and clinical features associated to ATAD1 gene

Symptoms // Phenotype % Cases
Rigidity Very Common - Between 80% and 100% cases
Hypertonia Very Common - Between 80% and 100% cases
Umbilical hernia Very Common - Between 80% and 100% cases
Myoclonus Very Common - Between 80% and 100% cases
Inguinal hernia Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with ATAD1 gene alterations may also develop some of the following symptoms and phenotypes:

  • Commonly - More than 50% cases

  • Encephalopathy
  • Hernia
  • Exaggerated startle response
  • Seizures
  • Hyperreflexia

  • Not very common - Between 30% and 50% cases

  • Myokymia
  • Tremor
  • Esophagitis

And 41 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to ATAD1 gene

Here you will find a list of rare diseases related to the ATAD1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


HEREDITARY HYPEREKPLEXIA

Alternate names

HEREDITARY HYPEREKPLEXIA Is also known as hereditary hyperexplexia, familial startle disease, kok disease, startle disease, familial, stiff baby syndrome, exaggerated startle reaction, sthe, congenital stiff man syndrome, stiff-baby syndrome, stiff-person syndrome, congenital, startle reaction, exaggerated

Description

Hereditary hyperekplexia is a hereditary neurological disorder characterized by excessive startle responses.

Most common symptoms of HEREDITARY HYPEREKPLEXIA

  • Intellectual disability
  • Seizures
  • Ataxia
  • Spasticity
  • Hyperreflexia


More info about HEREDITARY HYPEREKPLEXIA

SOURCES: OMIM ORPHANET

HYPEREKPLEXIA 4; HKPX4

Description

Hyperekplexia-4 is an autosomal recessive severe neurologic disorder apparent at birth. Affected infants have extreme hypertonia and appear stiff and rigid. They have little if any development, poor or absent visual contact, and no spontaneous movement, consistent with an encephalopathy. Some patients have early-onset refractory seizures, and many have inguinal or umbilical hernia. Most patients die in the first months of life due to respiratory failure or other complications (summary by Piard et al., 2018).For a general description and a discussion of genetic heterogeneity of hyperekplexia, see HKPX1 (OMIM ).

Most common symptoms of HYPEREKPLEXIA 4; HKPX4

  • Seizures
  • Global developmental delay
  • Flexion contracture
  • High palate
  • Hyperreflexia


More info about HYPEREKPLEXIA 4; HKPX4

SOURCES: OMIM



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