Details of Disease | DrugMAP

General Information of Disease (ID: DISP96VB)

Disease Name	Uncombable hair syndrome 1
Synonyms	uncombable hair syndrome; UHS1; pili trianguli Et canaliculi; uncombable hair syndrome 1
Disease Hierarchy	DISYKSRF: Genetic disease DISJNMLZ: Uncombable hair syndrome DISP96VB: Uncombable hair syndrome 1
Disease Identifiers	MONDO ID MONDO_0020736 UMLS CUI C4551573 OMIM ID 191480 MedGen ID 1640179

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
PADI3	TTSCHFW	Strong	Autosomal recessive	[1]
PADI3	TTSCHFW	Strong	Genetic Variation	[2]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
PADI3	OT5FL5UI	Strong	Autosomal recessive	[1]
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References

1	The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. Genet Med. 2022 Aug;24(8):1732-1742. doi: 10.1016/j.gim.2022.04.017. Epub 2022 May 4.
2	Mutations in Three Genes Encoding Proteins Involved in Hair Shaft Formation Cause Uncombable Hair Syndrome. Am J Hum Genet. 2016 Dec 1;99(6):1292-1304. doi: 10.1016/j.ajhg.2016.10.004. Epub 2016 Nov 17.