MCID: MCR067
MIFTS: 21

Microcoria, Congenital malady

Categories: Rare diseases, Eye diseases, Fetal diseases

Aliases & Classifications for Microcoria, Congenital

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Sources:
50OMIM, 46NIH Rare Diseases, 12diseasecard, 52Orphanet, 38MESH via Orphanet, 67UMLS via Orphanet, 62The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Microcoria, Congenital:

Name: Microcoria, Congenital 50 46 12
Congenital Microcoria 46 52
Congenital Miosis 46 52
 
Miosis, Congenital 46
Pinhole Pupils 46
Mcor 46

Characteristics:

Orphanet epidemiological data:

52
congenital microcoria:
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal

HPO:

62
microcoria, congenital:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM50 156600
Orphanet52 ORPHA566
MESH via Orphanet38 C537550
UMLS via Orphanet67 C1303009

Summaries for Microcoria, Congenital

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OMIM:50 Inherited congenital microcoria, also referred to as congenital miosis, is characterized by bilateral small pupils... (156600) more...

MalaCards based summary: Microcoria, Congenital, also known as congenital microcoria, is related to pierson syndrome and spastic ataxia 7, autosomal dominant, and has symptoms including glaucoma, myopia and miosis. An important gene associated with Microcoria, Congenital is MCOR (Microcoria, Congenital). Affiliated tissues include eye.

NIH Rare Diseases:46 Congenital microcoria is a rare anomaly of the pupils. it is characterized by pupils of less than 2 mm diameter and is caused by the underdevelopment of the dilator pupillae muscle of the iris. this anomaly is associated with nearsightedness and glaucoma. last updated: 7/19/2013

Related Diseases for Microcoria, Congenital

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Diseases related to Microcoria, Congenital via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1pierson syndrome11.7
2spastic ataxia 7, autosomal dominant11.0
3stormorken syndrome10.0
4myopathy9.9

Symptoms for Microcoria, Congenital

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Symptoms by clinical synopsis from OMIM:

156600

Clinical features from OMIM:

156600

HPO human phenotypes related to Microcoria, Congenital:

id Description Frequency HPO Source Accession
1 glaucoma rare (5%) HP:0000501
2 myopia HP:0000545
3 miosis HP:0000616
4 hypoplasia of the iris dilator muscle HP:0008345

Drugs & Therapeutics for Microcoria, Congenital

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Interventional clinical trials:

idNameStatusNCT IDPhase
1Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at SanfordRecruitingNCT01793168

Search NIH Clinical Center for Microcoria, Congenital

Genetic Tests for Microcoria, Congenital

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Anatomical Context for Microcoria, Congenital

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MalaCards organs/tissues related to Microcoria, Congenital:

34
Eye

Animal Models for Microcoria, Congenital or affiliated genes

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Publications for Microcoria, Congenital

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Articles related to Microcoria, Congenital:

idTitleAuthorsYear
1
Paternal isodisomy of chromosome 3 unmasked by autosomal recessive microcoria-congenital nephrosis syndrome (Pierson syndrome) in a child with no other phenotypic abnormalities. (21910237)
2011
2
Unique Ocular Findings in an Infant with Pierson (Microcoria-Congenital Nephrosis) Syndrome. (19645379)
2009
3
Neurodevelopmental deficits in Pierson (microcoria-congenital nephrosis) syndrome. (17256789)
2007

Variations for Microcoria, Congenital

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Expression for genes affiliated with Microcoria, Congenital

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Search GEO for disease gene expression data for Microcoria, Congenital.

Pathways for genes affiliated with Microcoria, Congenital

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GO Terms for genes affiliated with Microcoria, Congenital

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Sources for Microcoria, Congenital

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet