Details of Disease | DrugMAP

General Information of Disease (ID: DISHS12J)

Disease Name	Nonsyndromic congenital nail disorder 3
Synonyms	Gorlin Bushkell Jensen syndrome; leukonychia totalis multiple sebaceous cysts renal calculi; leukonychia Striatus; leukonychia punctata; leukonychia totalis and/or partialis; NDNC3; nail disorder, nonsyndromic congenital, 3; porcelain nails; nail disorder, nonsyndromic congenital, 3, (leukonychia); inherited isolated nail anomaly caused by mutation in PLCD1; PLCD1 inherited isolated nail anomaly; nail disorder, nonsyndromic congenital, type 3; nonsyndromic congenital nail disorder type 3
Definition	Any inherited isolated nail anomaly in which the cause of the disease is a mutation in the PLCD1 gene.
Disease Hierarchy	DISNN50H: Inherited isolated nail anomaly DISHS12J: Nonsyndromic congenital nail disorder 3
Disease Identifiers	MONDO ID MONDO_0007900 UMLS CUI C0544855 OMIM ID 151600 MedGen ID 107463

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
PLCD1	OT6WFVXZ	Strong	Autosomal recessive	[1]
------------------------------------------------------------------------------------

References

1	Hereditary leukonychia, or porcelain nails, resulting from mutations in PLCD1. Am J Hum Genet. 2011 Jun 10;88(6):839-844. doi: 10.1016/j.ajhg.2011.05.014.