Microtia with Nasolacrimal Duct Imperforation and Eye Coloboma

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OMIM® 57 611863 ICD10 via Orphanet 33 Q13.8 UMLS via Orphanet 71 C2678482

Orphanet 58 ORPHA139450 MedGen 41 C2678482 SNOMED-CT via HPO 68 246622003 263681008 278530008 35045004 409668002 more

GARD : ²⁰ The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 139450 Definition This syndrome is characterised by the association of microtia, eye coloboma, and imperforation of the nasolacrimal duct. Epidemiology So far, it has been described in only one family. Etiology The phenotype is associated with the presence of five copies of a copy-number-variable region ( CNV ) localised to 4pter. This is the first example of an amplified CNV being associated with a Mendelian disorder. Genetic counseling Transmission is autosomal dominant.

MalaCards based summary : Microtia with Nasolacrimal Duct Imperforation and Eye Coloboma, is also known as balikova-vermeesch syndrome. An important gene associated with Microtia with Nasolacrimal Duct Imperforation and Eye Coloboma is MNDEC (Microtia With Nasolacrimal Duct Imperforation And Eye Coloboma). Affiliated tissues include eye, and related phenotypes are microtia and lacrimal duct atresia

More information from OMIM: 611863

Clinical features from OMIM®:

611863 (Updated 05-Apr-2021)

Search Clinical Trials , NIH Clinical Center for Microtia with Nasolacrimal Duct Imperforation and Eye Coloboma

Search GEO for disease gene expression data for Microtia with Nasolacrimal Duct Imperforation and Eye Coloboma.