MCID: MCR242
MIFTS: 16
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Microtia with Nasolacrimal Duct Imperforation and Eye Coloboma
Categories:
Eye diseases, Fetal diseases, Rare diseases
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Aliases & Classifications for Microtia with Nasolacrimal Duct Imperforation and Eye Coloboma
MalaCards integrated aliases for Microtia with Nasolacrimal Duct Imperforation and Eye Coloboma:
Characteristics:Orphanet epidemiological data:59
microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Classifications:
ICD10:
34
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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
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Human phenotypes related to Microtia with Nasolacrimal Duct Imperforation and Eye Coloboma:59 32
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MalaCards organs/tissues related to Microtia with Nasolacrimal Duct Imperforation and Eye Coloboma:41
Eye
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Search
GEO
for disease gene expression data for Microtia with Nasolacrimal Duct Imperforation and Eye Coloboma.
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