TGM3 gene related symptoms and diseases

All the information presented here about the TGM3 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,ORPHANET,HGNC,NCBIGENE, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to TGM3 gene

Symptoms // Phenotype % Cases
Uncombable hair Very Common - Between 80% and 100% cases
Pili canaliculi Very Common - Between 80% and 100% cases
Depressivity Uncommon - Between 30% and 50% cases
Alopecia areata Uncommon - Between 30% and 50% cases
Hypotrichosis Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with TGM3 gene alterations may also develop some of the following symptoms and phenotypes:
  • Not very common - Between 30% and 50% cases

  • Hyperhidrosis
  • Alopecia
  • Cataract
  • Trichodysplasia
  • Dry hair
  • Hypertrichosis
  • White hair
  • Woolly hair

And 6 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to TGM3 gene

Here you will find a list of rare diseases related to the TGM3. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


UNCOMBABLE HAIR SYNDROME


Alternate names

UNCOMBABLE HAIR SYNDROME Is also known as pili trianguli et canaliculi, uncombable hair syndrome, uhs

Description

Uncombable hair syndrome (UHS), or pili trianguli et canaliculi, is a rare scalp hair shaft dysplasia.

Most common symptoms of UNCOMBABLE HAIR SYNDROME

  • Depressivity
  • Hypertrichosis
  • Abnormality of the hair
  • Coarse hair
  • Albinism


More info about UNCOMBABLE HAIR SYNDROME

SOURCES: ORPHANET OMIM

UNCOMBABLE HAIR SYNDROME 2; UHS2


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 2; UHS2

  • Cataract
  • Alopecia
  • Hyperhidrosis
  • Hypotrichosis
  • Juvenile cataract


More info about UNCOMBABLE HAIR SYNDROME 2; UHS2

SOURCES: OMIM


Potential gene panels for TGM3 gene

TGM3 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the TGM3 gene.

More info about this panel


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