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, 40MESH via Orphanet, 48NIH Rare Diseases, 52OMIM, 54Orphanet, 64The Human Phenotype Ontology, 69UMLS via Orphanet
See all MalaCards sources

Aliases & Descriptions for Microcoria, Congenital:

Name: Microcoria, Congenital 52 48 12
Congenital Microcoria 48 54
Congenital Miosis 48 54
 
Miosis, Congenital 48
Pinhole Pupils 48
Mcor 48

Characteristics:

Orphanet epidemiological data:

54
congenital microcoria:
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal

HPO:

64
microcoria, congenital:
Inheritance: autosomal dominant inheritance

Classifications:



External Ids:

OMIM52 156600
Orphanet54 ORPHA566
MESH via Orphanet40 C537550
UMLS via Orphanet69 C1303009

Summaries for Microcoria, Congenital

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OMIM:52 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:48 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 & Phenotypes 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:

 64
id Description HPO Frequency HPO Source Accession
1 glaucoma64 rare (5%) HP:0000501
2 myopia64 HP:0000545
3 miosis64 HP:0000616
4 hypoplasia of the iris dilator muscle64 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:

36
Eye

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
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet