MCID: MCR067
MIFTS: 20

Microcoria, Congenital malady

Rare diseases, Eye diseases, Fetal diseases categories

Summaries for Microcoria, Congenital

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NIH Rare Diseases:41 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 autosomal dominant inheritance, myopia and miosis. An important gene associated with Microcoria, Congenital is MCOR (microcoria, congenital). Affiliated tissues include eye.

Description from OMIM:45 156600

Aliases & Classifications for Microcoria, Congenital

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Sources:
45OMIM, 10diseasecard, 41NIH Rare Diseases, 47Orphanet, 34MESH via Orphanet, 61UMLS via Orphanet
See all sources

Microcoria, Congenital, Aliases & Descriptions:

Name: Microcoria, Congenital 45 10 41
Congenital Microcoria 41 47
Congenital Miosis 41 47
 
Miosis, Congenital 41
Pinhole Pupils 41
Mcor 41


Classifications:

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


Characteristics (Orphanet epidemiological data):

47
congenital microcoria:
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal


External Ids:

OMIM45 156600
Orphanet47 566
MESH via Orphanet34 C537550
UMLS via Orphanet61 C1303009

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 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:

31
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
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Microcoria, Congenital

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet