Details of Disease | DrugMAP

General Information of Disease (ID: DISWEBV5)

Disease Name	Bathing suit ichthyosis
Synonyms	BSI
Definition	Bathing suit ichthyosis (BSI) is a rare variant of autosomal recessive congenital ichthyosis (ARCI) characterized by the presence of large dark scales in specific areas of the body.
Disease Hierarchy	DISVMSR6: Autosomal recessive congenital ichthyosis DISWEBV5: Bathing suit ichthyosis
Disease Identifiers	MONDO ID MONDO_0015085 UMLS CUI C4511230 MedGen ID 1386460 Orphanet ID 100976 SNOMED CT ID 725588002

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
F13B	TTAXGIP	Disputed	Altered Expression	[1]
TGM1	TT7A949	Strong	Genetic Variation	[2]
------------------------------------------------------------------------------------

This Disease Is Related to 1 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
TGM1	DEFJOAG	Supportive	Autosomal recessive	[1]
------------------------------------------------------------------------------------

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
TGM1	OTB8URRI	Supportive	Autosomal recessive	[1]
------------------------------------------------------------------------------------

References

1	Bathing suit ichthyosis is caused by transglutaminase-1 deficiency: evidence for a temperature-sensitive phenotype. Hum Mol Genet. 2006 Nov 1;15(21):3083-97. doi: 10.1093/hmg/ddl249. Epub 2006 Sep 12.
2	Expanding the Genotypic Spectrum of Bathing Suit Ichthyosis.JAMA Dermatol. 2017 Jun 1;153(6):537-543. doi: 10.1001/jamadermatol.2017.0202.