Details of Disease | DrugMAP

General Information of Disease (ID: DISW5MTJ)

Disease Name	Barber-Say syndrome
Synonyms	hypertrichosis atrophic skin ectropion macrostomia; BBRSAY; hypertrichosis, atrophic skin, ectropion, and macrostomia; Barber Say syndrome; BARBER-SAY syndrome; Bss; hypertrichosis-atrophic skin-ectropion-macrostomia syndrome; Brown Squard Syndrome; Barber-Say syndrome
Definition	Barber Say syndrome (BSS) is a rare ectodermal dysplasia with neonatal onset characterized by congenital generalized hypertrichosis, atrophic skin, ectropion and microstomia.
Disease Hierarchy	DISH4PUQ: Congenital entropion DISD0WVL: Multiple congenital anomalies/dysmorphic syndrome without intellectual disability DISLRS4M: Ectodermal dysplasia DISKQF0W: Hypertrichosis of eyelid DISW5MTJ: Barber-Say syndrome
Disease Identifiers	MONDO ID MONDO_0008853 MESH ID C537908 UMLS CUI C1319466 OMIM ID 209885 MedGen ID 230818 Orphanet ID 1231 SNOMED CT ID 408537003

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 3 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
TWIST2	OTYH4BDG	Strong	Autosomal dominant	[1]
GP1BB	OTD7XNLL	Strong	Biomarker	[2]
GP9	OTA19OKO	Strong	Biomarker	[2]
------------------------------------------------------------------------------------

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
GP1BA	TTVB0Q9	Strong	Biomarker	[2]
------------------------------------------------------------------------------------

References

1	Recurrent Mutations in the Basic Domain of TWIST2 Cause Ablepharon Macrostomia and Barber-Say Syndromes. Am J Hum Genet. 2015 Jul 2;97(1):99-110. doi: 10.1016/j.ajhg.2015.05.017. Epub 2015 Jun 25.
2	Bernard-Soulier syndrome.Haematologica. 2011 Mar;96(3):355-9. doi: 10.3324/haematol.2010.039883.