Details of Disease

General Information of Disease (ID: DISZY8A1)

• Disease Name: X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome
• Synonyms: Maine microphthalmos; microphthalmia, syndromic 13; colobomatous microphthalmia with microcephaly, short stature, and psychomotor retardation; MCOPS13; microphthalmia, syndromic type 13; X-linked colobomatous microphthalmia-microcephaly-short stature-psychomotor retardation syndrome
• Definition: X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome is a rare syndromic microphthalmia disorder characterized by microphthalmia with coloboma (which may involve the iris, cilary body, choroid, retina and/or optic nerve), microcephaly, short stature and intellectual disability. Other eye abnormalities such as pendular nystagmus, esotropia and ptosis may also be present. Additional associated abnormalities include kyphoscoliosis, anteverted pinnae with minimal convolutions, diastema of the incisors and congenital pes varus.
• Disease Hierarchy:
  DIS3PN9X: X-linked disease
  DISDOXWZ: Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
  DISR3JBJ: Syndromic microphthalmia
  DISZY8A1: X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome
• Disease Identifiers:
  MONDO ID: MONDO_0010485
  UMLS CUI: C3806742
  OMIM ID: 300915
  MedGen ID: 813072
  Orphanet ID: 431140

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
HMGB3	OTCJ2EZY	Limited	Unknown	[1]

References

• [1] Hmgb3 deficiency deregulates proliferation and differentiation of common lymphoid and myeloid progenitors. Blood. 2005 Jan 15;105(2):627-34. doi: 10.1182/blood-2004-07-2551. Epub 2004 Sep 9.