Details of Disease

General Information of Disease (ID: DISWYX38)

• Disease Name: Microphthalmia, Lenz type
• Synonyms: syndromic microphthalmia type 1; microphthalmia Lenz type; Lenz dysplasia; microphthalmia syndromic 1; MCOPS1; MAA (formerly); microphthalmia or anophthalmos with associated anomalies (formerly); Lenz microphthalmia; Lenz Microphthalmia Syndrome; Lenz microphthamia syndrome
• Definition: A very rare X-linked inherited form of syndromic microphthalmia characterized by unilateral or bilateral microphthalmia (and/or clinical anophthalmia) with or without coloboma in addition to a range of extraocular manifestations such as microcephaly, malformed ears, dental abnormalities (i.e. irregular shape of incisors), skeletal anomalies (duplicated thumbs, syndactyly, clinodactyly, camptodactyly), urogenital anomalies (hypospadias, cryptorchidism, renal dysgenesis, hydroureter) and mild to severe intellectual disability. It is allelic to two disorders: oculofaciocardiodental syndrome and premature aging appearance-developmental delay-cardiac arrhythmia syndrome.|Editors note: TODO check
• Disease Hierarchy:
  DISR3JBJ: Syndromic microphthalmia
  DISWYX38: Microphthalmia, Lenz type

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
BCOR	OTG013AX	Supportive	X-linked	[1]
NAA10	OTYB9R6I	Supportive	X-linked	[2]

References

• [1] Lenz Microphthalmia Syndrome C RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY. 2002 Jun 4 [updated 2014 Oct 2]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews(?) [Internet]. Seattle (WA): University of Washington, Seattle; 1993C2024.
• [2] A splice donor mutation in NAA10 results in the dysregulation of the retinoic acid signalling pathway and causes Lenz microphthalmia syndrome. J Med Genet. 2014 Mar;51(3):185-96. doi: 10.1136/jmedgenet-2013-101660. Epub 2014 Jan 15.