Details of Disease

General Information of Disease (ID: DISMNE1H)

Disease Name Syndromic microphthalmia type 5
Synonyms
OTX2-related eye disorders; microphthalmia, syndromic 5; microphthalmia syndromic 5; retinal dystrophy, early-onset, with or without pituitary dysfunction; microphthalmia, syndromic type 5; syndromic microphthalmia/anophthalmia due to OTX2 mutation; MCOPS5; OTX2 syndromic microphthalmia; syndromic microphthalmia caused by mutation in OTX2; syndromic microphthalmia type 5
Definition
Syndromic microphthalmia, type 5 is characterized by the association of a range of ocular anomalies (anophthalmia, microphthalmia and retinal abnormalities) with variable developmental delay and central nervous system malformations.
Disease Hierarchy
DISR3JBJ: Syndromic microphthalmia
DISMNE1H: Syndromic microphthalmia type 5
Disease Identifiers
MONDO ID
MONDO_0012413
MESH ID
C566441
UMLS CUI
C1864690
OMIM ID
610125
MedGen ID
350491
Orphanet ID
178364
SNOMED CT ID
718761007

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
OTX2 OTTV05B1 Definitive Autosomal dominant [1]
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References

1 OTX2 mutation in a patient with anophthalmia, short stature, and partial growth hormone deficiency: functional studies using the IRBP, HESX1, and POU1F1 promoters. J Clin Endocrinol Metab. 2008 Oct;93(10):3697-702. doi: 10.1210/jc.2008-0720. Epub 2008 Jul 15.