MCOR
MCID: MCR067
MIFTS: 22

Microcoria, Congenital (MCOR) malady

Rare diseases, Eye diseases, Fetal diseases categories
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Summaries for Microcoria, Congenital

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NIH Rare Diseases:42 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 based summary: Microcoria, Congenital, also known as congenital microcoria, is related to pierson syndrome and spastic ataxia with congenital miosis, and has symptoms including An important gene associated with Microcoria, Congenital is MCOR (microcoria, congenital). Affiliated tissues include eye.

Description from OMIM:46 156600

Aliases & Classifications for Microcoria, Congenital

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Sources:
42NIH Rare Diseases, 46OMIM, 48Orphanet, 35MESH via Orphanet, 63UMLS via Orphanet
See all sources

Microcoria, Congenital, Aliases & Descriptions:

Name: Microcoria, Congenital 42 46
Congenital Microcoria 42 48 46
Congenital Miosis 42 48
 
Miosis, Congenital 42
Pinhole Pupils 42
Mcor 42


Classifications:

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


Characteristics (Orphanet epidemiological data):

48
congenital microcoria:
Inheritance: Autosomal dominant; Age of onset: Neonatal/infancy


External Ids:

OMIM46 156600
MESH via Orphanet35 C537550
UMLS via Orphanet63 C1303009

Related Diseases for Microcoria, Congenital

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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
2spastic ataxia with congenital miosis10.4
3nephrosis10.4
4stormorken syndrome10.1

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 autosomal dominant inheritance HP:0000006
2 myopia HP:0000545
3 miosis HP:0000616
4 hypoplasia of the iris dilator muscle HP:0008345

Drugs & Therapeutics for Microcoria, Congenital

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Drug clinical trials:

Search ClinicalTrials for Microcoria, Congenital

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:

32
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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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

Sources for Microcoria, Congenital

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet