MCOR
MCID: MCR067
MIFTS: 23

Microcoria, Congenital (MCOR) malady

Rare diseases, Eye diseases, Fetal diseases categories

Summaries for Microcoria, Congenital

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Sources:
44NIH Rare Diseases, 48OMIM, 34MalaCards
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NIH Rare Diseases:44 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). Affiliated tissues include eye.

Description from OMIM:48 156600

Aliases & Classifications for Microcoria, Congenital

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Sources:
44NIH Rare Diseases, 48OMIM, 50Orphanet, 37MESH via Orphanet, 64UMLS via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

50
congenital microcoria:
Inheritance: Autosomal dominant; Age of onset: Neonatal/infancy


Aliases & Descriptions:

microcoria, congenital 44 48
congenital microcoria 44 50 48
congenital miosis 44 50
miosis, congenital 44
pinhole pupils 44
mcor 44


External Ids:

OMIM48 156600
MESH via Orphanet37 C537550
UMLS via Orphanet64 C1303009

Related Diseases for Microcoria, Congenital

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Sources:
18GeneCards, 19GeneDecks
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Diseases related to Microcoria, Congenital via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

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

Symptoms for Microcoria, Congenital

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48OMIM
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Symptoms by clinical synopsis from OMIM:

156600

Clinical features from OMIM:

156600

Drugs & Therapeutics for Microcoria, Congenital

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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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

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Anatomical Context for Microcoria, Congenital

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Sources:
34MalaCards
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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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Sources:
53PubMed
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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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Sources:
16Gene Expression Omnibus DataSets
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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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Compounds for genes affiliated with Microcoria, Congenital

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GO Terms for genes affiliated with Microcoria, Congenital

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Products for genes affiliated with Microcoria, Congenital

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Microcoria, Congenital

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet