MCID: MCR067
MIFTS: 20

Microcoria, Congenital malady

Categories: Rare diseases, Eye diseases, Fetal diseases

Aliases & Classifications for Microcoria, Congenital

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Sources:
12diseasecard, 39MESH via Orphanet, 47NIH Rare Diseases, 51OMIM, 53Orphanet, 63The Human Phenotype Ontology, 68UMLS via Orphanet
See all MalaCards sources

Aliases & Descriptions for Microcoria, Congenital:

Name: Microcoria, Congenital 51 47 12
Congenital Microcoria 47 53
Congenital Miosis 47 53
 
Miosis, Congenital 47
Pinhole Pupils 47
Mcor 47

Characteristics:

Orphanet epidemiological data:

53
congenital microcoria:
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal

HPO:

63
microcoria, congenital:
Inheritance: autosomal dominant inheritance

Classifications:



External Ids:

OMIM51 156600
Orphanet53 ORPHA566
MESH via Orphanet39 C537550
UMLS via Orphanet68 C1303009

Summaries for Microcoria, Congenital

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OMIM:51 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:47 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 syndrome11.6
2spastic ataxia 7, autosomal dominant10.9
3stormorken syndrome10.9
4myopathy9.8

Symptoms for Microcoria, Congenital

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Symptoms by clinical synopsis from OMIM:

156600

Clinical features from OMIM:

156600

Human phenotypes related to Microcoria, Congenital:

 63
id Description HPO Frequency HPO Source Accession
1 glaucoma63 rare (5%) HP:0000501
2 myopia63 HP:0000545
3 miosis63 HP:0000616
4 hypoplasia of the iris dilator muscle63 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:

35
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
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet