TCHH gene related symptoms and diseases

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

Top 5 symptoms and clinical features associated to TCHH gene

Symptoms // Phenotype % Cases
Curly hair Very Common - Between 80% and 100% cases
Pili canaliculi Very Common - Between 80% and 100% cases
Uncombable hair Very Common - Between 80% and 100% cases

Rare diseases associated to TCHH gene

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


UNCOMBABLE HAIR SYNDROME 3; UHS3


Description

Uncombable hair syndrome is characterized by silvery, blond, or straw-colored scalp hair that is dry, frizzy, and wiry, has a characteristic sheen, stands away from the scalp in multiple directions, and is impossible to comb. This hair shaft disorder occurs in children and improves with age. The hair growth rate can range from slow to normal (summary by U. Basmanav et al., 2016).For a general phenotypic description and a discussion of genetic heterogeneity of UHS, see UHS1 (OMIM ).

Most common symptoms of UNCOMBABLE HAIR SYNDROME 3; UHS3

  • Curly hair
  • Pili canaliculi
  • Uncombable hair


More info about UNCOMBABLE HAIR SYNDROME 3; UHS3

SOURCES: OMIM


Potential gene panels for TCHH gene

TCHH Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the TCHH gene.

More info about this panel


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like LIPA G6PD HCFC1 MED17

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more