Details of Disease

General Information of Disease (ID: DISDG771)

Disease Name Microphthalmia, isolated, with coloboma 9
Synonyms
MCOPCB9; microphthalmia, isolated, with coloboma type 9; microphthalmia, isolated, with coloboma caused by mutation in TENM3; TENM3 microphthalmia, isolated, with coloboma; microphthalmia, isolated, with coloboma 9; microphthalmia, syndromic 15
Definition Any microphthalmia, isolated, with coloboma in which the cause of the disease is a mutation in the TENM3 gene.
Disease Hierarchy
DISLSEUJ: Microphthalmia, isolated, with coloboma
DISDG771: Microphthalmia, isolated, with coloboma 9
Disease Identifiers
MONDO ID
MONDO_0014059
UMLS CUI
C3554592
OMIM ID
615145
MedGen ID
767506

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
TENM3 OTWY13GR Strong Autosomal recessive [1]
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References

1 Novel truncating mutation in TENM3 in siblings with motor developmental delay, ocular coloboma, oval cornea, without microphthalmia. Am J Med Genet A. 2018 Dec;176(12):2930-2933. doi: 10.1002/ajmg.a.40658. Epub 2018 Dec 4.