MCID: MCR242
MIFTS: 15

Microtia with Nasolacrimal Duct Imperforation and Eye Coloboma

Categories: Eye diseases, Fetal diseases, Rare 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 20 58
Microtia-Eye Coloboma-Imperforation of the Nasolacrimal Duct Syndrome 58
Microtia Eye Coloboma and Imperforation of the Nasolacrimal Duct 20

Characteristics:

Orphanet epidemiological data:

58
microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide);

HPO:

31
microtia with nasolacrimal duct imperforation and eye coloboma:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare eye diseases
Developmental anomalies during embryogenesis


External Ids:

OMIM® 57 611863
ICD10 via Orphanet 33 Q13.8
UMLS via Orphanet 71 C2678482
Orphanet 58 ORPHA139450
MedGen 41 C2678482

Summaries for Microtia with Nasolacrimal Duct Imperforation and Eye Coloboma

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

Related Diseases for Microtia with Nasolacrimal Duct Imperforation and Eye Coloboma

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

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

58 31
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 microtia 58 31 hallmark (90%) Very frequent (99-80%) HP:0008551
2 lacrimal duct atresia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000564
3 photophobia 58 31 frequent (33%) Frequent (79-30%) HP:0000613
4 iris coloboma 58 31 frequent (33%) Frequent (79-30%) HP:0000612

Clinical features from OMIM®:

611863 (Updated 05-Apr-2021)

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:

40
Eye

Publications for Microtia with Nasolacrimal Duct Imperforation and Eye Coloboma

Articles related to Microtia with Nasolacrimal Duct Imperforation and Eye Coloboma:

# Title Authors PMID Year
1
Autosomal-dominant microtia linked to five tandem copies of a copy-number-variable region at chromosome 4p16. 61 57
18179897 2008

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 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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