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GTR Home > Conditions/Phenotypes > Uncombable hair syndrome 1

Uncombable hair syndrome 1

Summary

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 Syndrome See UHS2 (617251), caused by mutation in the TGM3 gene (600238) on chromosome 20p12, and UHS3 (617252), caused by mutation in the TCHH gene (190370) on chromosome 1q21. [from OMIM]

Genes See tests for all associated and related genes

  • Also known as: PAD3, PDI3, UHS1, PADI3
    Summary: peptidyl arginine deiminase 3

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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