1. Mendelian
  2. Genes
  3. EPS8L3

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.

Table of contents:

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

SOURCES: ORPHANET OMIM


Potential gene panels for EPS8L3 gene

EPS8L3 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the EPS8L3 gene.

More info about this panel
United States.

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