MCOR
MCID: MCR067
MIFTS: 19

Microcoria, Congenital (MCOR) malady

Eye, Fetal categories

Summaries for Microcoria, Congenital

Sources:
43NIH Rare Diseases, 47OMIM, 33MalaCards
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NIH Rare Diseases:43 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

MalaCards: Microcoria, Congenital, also known as congenital microcoria, is related to pierson syndrome and nephrosis. An important gene associated with Microcoria, Congenital is MCOR (microcoria, congenital).

Description from OMIM:47 156600

Aliases & Classifications for Microcoria, Congenital

Sources:
43NIH Rare Diseases, 47OMIM, 49Orphanet, 36MESH via Orphanet, 62UMLS via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Fetal
Anatomical: Eye


Characteristics (Orphanet epidemiological data):

49
congenital microcoria:
Inheritance: Autosomal dominant; Age of onset: Neonatal/infancy


Aliases & Descriptions:

microcoria, congenital 43 47
congenital microcoria 43 49 47
congenital miosis 43 49
miosis, congenital 43
pinhole pupils 43
mcor 43


External Ids:

OMIM47 156600
MESH via Orphanet36 C537550
UMLS via Orphanet62 C1303009

Related Diseases for Microcoria, Congenital

Sources:
17GeneCards, 18GeneDecks
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Diseases related to Microcoria, Congenital via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1pierson syndrome10.5
2nephrosis10.4
3spastic ataxia with congenital miosis10.3

Clinical Features for Microcoria, Congenital

Sources:
47OMIM
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Clinical features from OMIM:

156600

Clinical synopsis from OMIM:

156600

Drugs & Therapeutics for Microcoria, Congenital

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Microcoria, Congenital

Drug clinical trials:

Search ClinicalTrials for Microcoria, Congenital

Search NIH Clinical Center for Microcoria, Congenital

Search CenterWatch for Microcoria, Congenital

Genetic Tests for Microcoria, Congenital

Anatomical Context for Microcoria, Congenital

Animal Models for Microcoria, Congenital or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Microcoria, Congenital

Sources:
51PubMed
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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
4
Genetic homogeneity for inherited congenital microcoria loci in an Asian Indian pedigree. (16288197)
2005
5
Congenital nephrosis, mesangial sclerosis, and distinct eye abnormalities with microcoria: an autosomal recessive syndrome. (15372515)
2004

Genetic Variations for Microcoria, Congenital

Expression for genes affiliated with Microcoria, Congenital

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Microcoria, Congenital

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

Pathways for genes affiliated with Microcoria, Congenital

Compounds for genes affiliated with Microcoria, Congenital

GO Terms for genes affiliated with Microcoria, Congenital

Products for genes affiliated with Microcoria, Congenital

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Microcoria, Congenital

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet