Details of Disease

General Information of Disease (ID: DISLYTR8)

• Disease Name: Linear skin defects with multiple congenital anomalies 2
• Synonyms: aplasia cutis congenita, Reticulolinear, with microcephaly, Facial Dysmorphism, and Other congenital anomalies; LSDMCA2; COX7B microphthalmia with linear skin defects syndrome; linear skin defects with multiple congenital anomalies 2, X-linked dominant; microphthalmia with linear skin defects syndrome caused by mutation in COX7B; linear skin defects with multiple congenital anomalies 2; linear skin defects with multiple congenital anomalies type 2
• Definition: Any microphthalmia with linear skin defects syndrome in which the cause of the disease is a mutation in the COX7B gene.
• Disease Hierarchy:
  DIS5BT4L: Linear skin defects with multiple congenital anomalies
  DISLYTR8: Linear skin defects with multiple congenital anomalies 2
• Disease Identifiers:
  MONDO ID: MONDO_0010474
  UMLS CUI: C3550921
  OMIM ID: 300887
  MedGen ID: 763835

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
COX7B	OT67PIDP	Definitive	X-linked	[1]

References

• [1] Mutations in COX7B cause microphthalmia with linear skin lesions, an unconventional mitochondrial disease. Am J Hum Genet. 2012 Nov 2;91(5):942-9. doi: 10.1016/j.ajhg.2012.09.016.