Uncombable Hair Syndrome 1; Uhs1

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). Genetic Heterogeneity of Uncombable Hair SyndromeSee UHS2 (OMIM ), caused by mutation in the TGM3 gene (OMIM ) on chromosome 20p12, and UHS3 (OMIM ), caused by mutation in the TCHH gene (OMIM ) on chromosome 1q21.

Genes related to Uncombable Hair Syndrome 1; Uhs1

TGM3
PADI3

Clinical Features

Top most frequent phenotypes and symptoms related to Uncombable Hair Syndrome 1; Uhs1

Pain
Depressivity
Abnormality of the hair
Hypertrichosis
Coarse hair
Albinism
Curly hair
Woolly hair
Fragile nails
White hair

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Incidence and onset information

— Not enough data available about incidence and published cases.

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Uncombable Hair Syndrome 1; Uhs1 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
TGM3. By Fulgent Genetics Fulgent Genetics in United States. TGM3 Specificity 100 % Genes 50 %
PADI3. By Fulgent Genetics Fulgent Genetics in United States. PADI3 Specificity 100 % Genes 50 %

Alternate names

Uncombable Hair Syndrome 1; Uhs1 Is also known as uncombable hair syndrome;uhs, pili trianguli et canaliculi;pili trianguli et canaliculi.

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