Microtia with Nasolacrimal Duct Imperforation and Eye Coloboma

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OMIM 57 611863 Orphanet 59 ORPHA139450 ICD10 via Orphanet 34 Q15.8

UMLS via Orphanet 74 C2678482 MedGen 42 C2678482 SNOMED-CT via HPO 69 278530008 246622003 409668002 35045004 more

NIH Rare Diseases : ⁵³ The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 139450Disease definitionThis syndrome is characterised by the association of microtia, eye coloboma, and imperforation of the nasolacrimal duct.EpidemiologySo far, it has been described in only one family.EtiologyThe 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 counselingTransmission is autosomal dominant.Visit the Orphanet disease page for more resources.

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 photophobia

Description from OMIM: 611863

Clinical features from OMIM:

611863

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.