1. Mendelian
  2. Rare Disease Genes
  3. NECTIN4

NECTIN4 gene related symptoms and diseases

All the information presented here about the NECTIN4 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.

Table of contents:

Top 5 symptoms and clinical features associated to NECTIN4 gene

Symptoms // Phenotype % Cases
Cognitive impairment Very Common - Between 80% and 100% cases
Coarse hair Very Common - Between 80% and 100% cases
Epidermal hyperkeratosis Very Common - Between 80% and 100% cases
Absent facial hair Very Common - Between 80% and 100% cases
Palmar hyperkeratosis Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with NECTIN4 gene alterations may also develop some of the following symptoms and phenotypes:

  • Commonly - More than 50% cases

  • Patchy alopecia
  • Hypoplasia of teeth
  • Ridged nail
  • Pili torti
  • Conical tooth
  • Heat intolerance
  • Cutaneous finger syndactyly
  • Aplasia/Hypoplasia of the eyebrow

And 19 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to NECTIN4 gene

Here you will find a list of rare diseases related to the NECTIN4. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


ECTODERMAL DYSPLASIA-SYNDACTYLY SYNDROME

Alternate names

ECTODERMAL DYSPLASIA-SYNDACTYLY SYNDROME Is also known as edss, edss1

Description

Ectodermal dysplasia-syndactyly syndrome is a rare, genetic ectodermal dysplasia syndrome characterized by sparse to absent scalp hair, eyebrows, and eyelashes (with pili torti when present), widely spaced, conical-shaped teeth with peg-shaped, conical crowns and enamel hypoplasia and palmoplantar hyperkeratosis, associated with partial cutaneous syndactyly in hands and feet.

Most common symptoms of ECTODERMAL DYSPLASIA-SYNDACTYLY SYNDROME

  • Cognitive impairment
  • Syndactyly
  • Alopecia
  • Hyperhidrosis
  • Hyperkeratosis


More info about ECTODERMAL DYSPLASIA-SYNDACTYLY SYNDROME

SOURCES: ORPHANET OMIM


Potential gene panels for NECTIN4 gene

Ectodermal dysplasia (including hypotrichosis and hypoplastic hair) Panel Panel

Germany.

By CeGaT GmbH Ectodermal dysplasia (including hypotrichosis and hypoplastic hair) Panel that also includes the following genes: BCS1L SNRPE SOX18 ST14 TRPS1 IFT122 WNT10A EDARADD SHOC2 LPAR6

More info about this panel
Germany.

PVRL4 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the NECTIN4 gene.

More info about this panel
United States.

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like SPTLC2 HOXA1 KCNB1 ARHGAP24 FLAD1 CARS2 HNRNPU