Details of Disease | DrugMAP

General Information of Disease (ID: DISIL4GT)

Disease Name	Linear skin defects with multiple congenital anomalies 3
Synonyms	linear skin defects with cardiomyopathy and Other congenital anomalies; LSDMCA3; microphthalmia with linear skin defects syndrome caused by mutation in NDUFB11; NDUFB11 microphthalmia with linear skin defects syndrome; linear skin defects with multiple congenital anomalies type 3; linear skin defects with multiple congenital anomalies 3; linear skin defects with multiple congenital anomalies 3, X-linked dominant
Definition	Any microphthalmia with linear skin defects syndrome in which the cause of the disease is a mutation in the NDUFB11 gene.
Disease Hierarchy	DIS5BT4L: Linear skin defects with multiple congenital anomalies DISIL4GT: Linear skin defects with multiple congenital anomalies 3
Disease Identifiers	MONDO ID MONDO_0010494 UMLS CUI C4225421 OMIM ID 300952 MedGen ID 906997

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
NDUFB11	OTFG5777	Strong	X-linked	[1]
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References

1	Mutations in NDUFB11, encoding a complex I component of the mitochondrial respiratory chain, cause microphthalmia with linear skin defects syndrome. Am J Hum Genet. 2015 Apr 2;96(4):640-50. doi: 10.1016/j.ajhg.2015.02.002. Epub 2015 Mar 12.