ERAL1 gene related symptoms and diseases

All the information presented here about the ERAL1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,ORPHANET,OMIM,HGNC, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to ERAL1 gene

Symptoms // Phenotype % Cases
Hearing impairment Very Common - Between 80% and 100% cases
Amenorrhea Very Common - Between 80% and 100% cases
Primary amenorrhea Very Common - Between 80% and 100% cases
Sensorineural hearing impairment Very Common - Between 80% and 100% cases
Secondary amenorrhea Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with ERAL1 gene alterations may also develop some of the following symptoms and phenotypes:
  • Not very common - Between 30% and 50% cases

  • Hyperkinesis
  • Mental deterioration
  • Ophthalmoplegia
  • Delayed puberty
  • Infertility
  • Dysmetria
  • Peripheral axonal neuropathy
  • Sensory neuropathy

And 42 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to ERAL1 gene

Here you will find a list of rare diseases related to the ERAL1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


PERRAULT SYNDROME 6; PRLTS6


Most common symptoms of PERRAULT SYNDROME 6; PRLTS6

  • Hearing impairment
  • Sensorineural hearing impairment
  • Amenorrhea
  • Primary amenorrhea
  • Premature ovarian insufficiency


More info about PERRAULT SYNDROME 6; PRLTS6

SOURCES: OMIM

PERRAULT SYNDROME


Alternate names

PERRAULT SYNDROME Is also known as ovarian dysgenesis with sensorineural deafness, gonadal dysgenesis, xx type, with deafness, xx gonodal dysgenesis-deafness syndrome

Description

Perrault syndrome (PS) is characterized by the association of ovarian dysgenesis in females with sensorineural hearing impairment. In more recent PS reports, some authors have described neurologic abnormalities, notably progressive cerebellar ataxia and intellectual deficit.

Most common symptoms of PERRAULT SYNDROME

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Scoliosis
  • Ataxia


More info about PERRAULT SYNDROME

SOURCES: ORPHANET OMIM


Potential gene panels for ERAL1 gene

ERAL1 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the ERAL1 gene.

More info about this panel

PERRAULT SYNDROME Panel

Spain.

By Laboratorio de Genetica Clinica SL PERRAULT SYNDROME that also includes the following genes: TWNK LARS2 CLPP ERAL1 HARS2 HSD17B4

More info about this panel


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