Details of Disease

General Information of Disease (ID: DISJNMLZ)

• Disease Name: Uncombable hair syndrome
• Synonyms: spun glass hair; cheveux incoiffables; unmanageable hair syndrome; pili trianguli et canaliculi; uncombable hair syndrome
• Definition: Uncombable hair syndrome (UHS), or pili trianguli et canaliculi, is a rare scalp hair shaft dysplasia.
• Disease Hierarchy:
  DISRPL2H: Hair anomaly
  DISJNMLZ: Uncombable hair syndrome
• Disease Identifiers:
  MONDO ID: MONDO_0008621
  MESH ID: C536939
  UMLS CUI: C0432347
  MedGen ID: 96596
  Orphanet ID: 1410
  SNOMED CT ID: 254230001

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 3 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
PADI3	TTSCHFW	Supportive	Autosomal recessive	[1]
PADI3	TTSCHFW	Strong	GermlineCausalMutation	[1]
TGM1	TT7A949	Strong	Genetic Variation	[2]

This Disease Is Related to 3 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
TGM3	DEOEB3Q	Supportive	Autosomal recessive	[1]
TGM3	DEOEB3Q	Strong	Genetic Variation	[2]
TGM5	DEW8QEH	Strong	Genetic Variation	[2]

This Disease Is Related to 3 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
PADI3	OT5FL5UI	Supportive	Autosomal recessive	[1]
TGM3	OTNGRUDT	Supportive	Autosomal recessive	[1]
TCHH	OT4J7EFT	Strong	Genetic Variation	[1]

References

• [1] 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.
• [2] Transglutaminases in autoimmune and inherited skin diseases: The phenomena of epitope spreading and functional compensation.Exp Dermatol. 2018 Aug;27(8):807-814. doi: 10.1111/exd.13449. Epub 2018 Feb 26.