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.
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
Search interest in ERAL1
Potential gene panels for ERAL1 gene
ERAL1 Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the ERAL1 gene.
More info about this panelPERRAULT SYNDROME Panel
By Laboratorio de Genetica Clinica SL PERRAULT SYNDROME that also includes the following genes: TWNK LARS2 CLPP ERAL1 HARS2 HSD17B4
More info about this panelIf you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like STOM DUT BCKDHA PSTPIP1 AUTS2 TSFM FOXC2