Details of Disease | DrugMAP

General Information of Disease (ID: DISZR9L5)

Disease Name	Isolated microphthalmia 6
Synonyms	microphthalmia, isolated 6; microphthalmia, posterior nonsyndromic; isolated microphthalmia type 6; posterior nonsyndromic microphthalmia; isolated microphthalmia caused by mutation in PRSS56; PRSS56 isolated microphthalmia; MCOP6; microphthalmia, isolated type 6
Definition	Any isolated microphthalmia in which the cause of the disease is a mutation in the PRSS56 gene.
Disease Hierarchy	DISLGR9K: Isolated microphthalmia DISA55ZA: Isolated anophthalmia-microphthalmia syndrome DISZR9L5: Isolated microphthalmia 6
Disease Identifiers	MONDO ID MONDO_0013293 UMLS CUI C3150757 OMIM ID 613517 MedGen ID 462107

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
PRSS56	OTPPXTBB	Definitive	Autosomal recessive	[1]
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References

1	Autosomal-recessive posterior microphthalmos is caused by mutations in PRSS56, a gene encoding a trypsin-like serine protease. Am J Hum Genet. 2011 Mar 11;88(3):382-90. doi: 10.1016/j.ajhg.2011.02.006.