Details of Disease

General Information of Disease (ID: DIS5BT4L)

• Disease Name: Linear skin defects with multiple congenital anomalies
• Synonyms: LSDMCA1; Micropthalmia syndromic 7; linear skin defects with multiple congenital anomalies 1; microphthalmia dermal aplasia and sclerocornea syndrome; microphthalmia with linear skin defects syndrome; linear skin defects with multiple congenital anomalies type 1; microphthalmia-dermal aplasia-sclerocornea syndrome; MLS syndrome; syndromic microphthalmia type 7; MCOPS7; linear skin defects with multiple congenital anomalies; MIDAS syndrome
• Definition: A genetic condition that affects the eyes and skin. It is mainly found in females and is characterized by small or poorly developed eyes (microphthalmia) and characteristic linear skin markings on the head and neck. The signs and symptoms of this condition may include abnormalities of the brain, heart, and genitourinary system. Other symptoms may include short stature, developmental delay, and finger and toenails that do not grow normally (nail dystrophy). MLS syndrome is typically caused by either a deletion of certain genetic material on the p (short) arm of the X chromosome or by a mutation in the HCCS gene. In some cases, it may be caused by mutations in the COX7B and NDUFB11 genes, (also located on the X chromosome). According to the mutated gene, the disease may be classified in three subtypes. This condition is inherited in an X-linked manner and is thought to result in serious early developmental concerns in males, leading to almost no males with this condition surviving to delivery.Although there is no specific treatment or cure for MLS syndrome, there may be ways to manage the symptoms. A team of doctors is often needed to figure out the treatment options based on each person's symptoms.|Editor notes: Renamed from MICROPHTHALMIA, SYNDROMIC 7; MCOPS7 by OMIM on 5/15/15. Placed in both PS309801 and PS309800 by OMIM.
• Disease Hierarchy:
  DISZQZB4: Mixed dermis disorder
  DISR3JBJ: Syndromic microphthalmia
  DISSCALK: Hereditary skin disorder
  DIS5BT4L: Linear skin defects with multiple congenital anomalies

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 3 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
COX7B	OT67PIDP	Supportive	X-linked	[1]
HCCS	OTQE88BE	Supportive	X-linked	[2]
NDUFB11	OTFG5777	Supportive	X-linked	[3]

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.
• [2] Mutations of the mitochondrial holocytochrome c-type synthase in X-linked dominant microphthalmia with linear skin defects syndrome. Am J Hum Genet. 2006 Nov;79(5):878-89. doi: 10.1086/508474. Epub 2006 Sep 6.
• [3] 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.