MCID: MCR067
MIFTS: 21

Microcoria, Congenital malady

Categories: Rare diseases, Eye diseases, Fetal diseases

Aliases & Classifications for Microcoria, Congenital

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Sources:
49OMIM, 11diseasecard, 45NIH Rare Diseases, 51Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet, 61The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Microcoria, Congenital:

Name: Microcoria, Congenital 49 11 45
Congenital Microcoria 45 51
Congenital Miosis 45 51
 
Miosis, Congenital 45
Pinhole Pupils 45
Mcor 45

Characteristics:

Orphanet epidemiological data:

51
congenital microcoria:
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal

HPO:

61
microcoria, congenital:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM49 156600
Orphanet51 566
MESH via Orphanet37 C537550
UMLS via Orphanet66 C1303009

Summaries for Microcoria, Congenital

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OMIM:49 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 spastic ataxia with congenital miosis and pierson syndrome, and has symptoms including glaucoma, hypoplasia of the iris dilator muscle and miosis. An important gene associated with Microcoria, Congenital is MCOR (Microcoria, Congenital). Affiliated tissues include eye.

NIH Rare Diseases:45 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
1spastic ataxia with congenital miosis12.0
2pierson syndrome11.7
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 hypoplasia of the iris dilator muscle HP:0008345
3 miosis HP:0000616
4 myopia HP:0000545

Drugs & Therapeutics for Microcoria, Congenital

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Interventional clinical trials:

Search ClinicalTrials, 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:

33
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
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet