MCID: MCR242
MIFTS: 16

Microtia with Nasolacrimal Duct Imperforation and Eye Coloboma

Categories: Rare diseases, Eye diseases, Fetal diseases

Aliases & Classifications for Microtia with Nasolacrimal Duct Imperforation and Eye Coloboma

MalaCards integrated aliases for Microtia with Nasolacrimal Duct Imperforation and Eye Coloboma:

Name: Microtia with Nasolacrimal Duct Imperforation and Eye Coloboma 57 13
Balikova-Vermeesch Syndrome 53 59
Microtia-Eye Coloboma-Imperforation of the Nasolacrimal Duct Syndrome 59
Microtia Eye Coloboma and Imperforation of the Nasolacrimal Duct 53

Characteristics:

Orphanet epidemiological data:

59
microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide);

Classifications:



External Ids:

OMIM 57 611863
Orphanet 59 ORPHA139450
ICD10 via Orphanet 34 Q15.8
UMLS via Orphanet 74 C2678482
MedGen 42 C2678482

Summaries for Microtia with Nasolacrimal Duct Imperforation and Eye Coloboma

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 lacrimal duct atresia and iris coloboma

Description from OMIM: 611863

Related Diseases for Microtia with Nasolacrimal Duct Imperforation and Eye Coloboma

Symptoms & Phenotypes for Microtia with Nasolacrimal Duct Imperforation and Eye Coloboma

Clinical features from OMIM:

611863

Human phenotypes related to Microtia with Nasolacrimal Duct Imperforation and Eye Coloboma:

59 32
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 lacrimal duct atresia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000564
2 iris coloboma 59 32 frequent (33%) Frequent (79-30%) HP:0000612
3 photophobia 59 32 frequent (33%) Frequent (79-30%) HP:0000613
4 microtia 59 32 hallmark (90%) Very frequent (99-80%) HP:0008551

Drugs & Therapeutics for Microtia with Nasolacrimal Duct Imperforation and Eye Coloboma

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

Genetic Tests for Microtia with Nasolacrimal Duct Imperforation and Eye Coloboma

Anatomical Context for Microtia with Nasolacrimal Duct Imperforation and Eye Coloboma

MalaCards organs/tissues related to Microtia with Nasolacrimal Duct Imperforation and Eye Coloboma:

41
Eye

Publications for Microtia with Nasolacrimal Duct Imperforation and Eye Coloboma

Variations for Microtia with Nasolacrimal Duct Imperforation and Eye Coloboma

Expression 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.

Pathways for Microtia with Nasolacrimal Duct Imperforation and Eye Coloboma

GO Terms for Microtia with Nasolacrimal Duct Imperforation and Eye Coloboma

Sources for Microtia with Nasolacrimal Duct Imperforation and Eye Coloboma

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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