EPS8L3 gene related symptoms and diseases
All the information presented here about the EPS8L3 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,HGNC,OMIM,NCBIGENE, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to EPS8L3 gene
Symptoms // Phenotype | % Cases |
---|---|
Alopecia | Very Common - Between 80% and 100% cases |
Polycystic ovaries | Very Common - Between 80% and 100% cases |
Sparse or absent eyelashes | Very Common - Between 80% and 100% cases |
Onycholysis | Very Common - Between 80% and 100% cases |
Pili torti | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with EPS8L3 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Sparse body hair
- Aplasia/Hypoplasia of the eyebrow
- Sparse eyebrow
- Coarse hair
- Cleft lip
- Sparse eyelashes
- Sparse and thin eyebrow
- Sparse scalp hair
And 4 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to EPS8L3 gene
Here you will find a list of rare diseases related to the EPS8L3. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
MARIE UNNA HEREDITARY HYPOTRICHOSIS
Alternate names
MARIE UNNA HEREDITARY HYPOTRICHOSIS Is also known as hypotrichosis, marie unna type, marie unna hereditary hypotrichosis 1, muhh, muhh1, hypotrichosis, marie unna type, 1, marie unna congenital hypotrichosis
Description
Marie Unna hereditary hypotrichosis (MUHH) is a rare autosomal dominant hair loss disorder characterized by the absence or scarcity of scalp hair, eyebrows, and eyelashes at birth; coarse and wiry hair during childhood; and progressive hair loss beginning around puberty.
Most common symptoms of MARIE UNNA HEREDITARY HYPOTRICHOSIS
- Alopecia
- Cleft lip
- Hypotrichosis
- Oral cleft
- Hirsutism
More info about MARIE UNNA HEREDITARY HYPOTRICHOSIS
Search interest in EPS8L3
Potential gene panels for EPS8L3 gene
EPS8L3 Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the EPS8L3 gene.
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 HSD3B1 TLE6 CYP21A2 PALB2 LRPPRC AFF1 CYLD