MCID: MCR067
MIFTS: 23

Microcoria, Congenital

Categories: Rare diseases, Eye diseases, Fetal diseases

Aliases & Classifications for Microcoria, Congenital

MalaCards integrated aliases for Microcoria, Congenital:

Name: Microcoria, Congenital 53 72 49 13
Congenital Microcoria 49 55
Miosis, Congenital 53 49
Congenital Miosis 49 55
Mcor 53 49
Chromosome 13q32 Deletion Syndrome 53
Pinhole Pupils 49

Characteristics:

Orphanet epidemiological data:

55
congenital microcoria
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal;

OMIM:

53
Inheritance:
autosomal dominant

Miscellaneous:
contiguous gene deletion syndrome


HPO:

31
microcoria, congenital:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 53 156600
Orphanet 55 ORPHA566
MESH via Orphanet 42 C537550
UMLS via Orphanet 70 C1303009
MedGen 39 C1303009

Summaries for Microcoria, Congenital

OMIM : 53 Inherited congenital microcoria, also referred to as congenital miosis, is characterized by bilateral small pupils (diameter less than 2 mm) that result from an underdevelopment of the dilator pupillae muscle of the iris (Holth and Berner, 1923; Simpson and Parsons, 1989). Iris transillumination defects are a constant feature. The pupil dilates poorly or not at all in response to topically administered mydriatic drugs. The disorder is transmitted as an autosomal dominant trait with complete penetrance and is associated with goniodysgenesis and glaucoma (Tawara and Inomata, 1983; Mazzeo et al., 1986; Toulemont et al., 1995). (156600)

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 myopia, glaucoma and miosis. An important gene associated with Microcoria, Congenital is MCOR (Microcoria, Congenital). Affiliated tissues include eye.

NIH Rare Diseases : 49 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

Wikipedia : 72 Microcoria is a congenital disease in which the pupils of the subject are narrower than... more...

Related Diseases for Microcoria, Congenital

Diseases related to Microcoria, Congenital via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 pierson syndrome 11.7
2 spastic ataxia 7, autosomal dominant 11.0

Symptoms & Phenotypes for Microcoria, Congenital

Symptoms via clinical synopsis from OMIM:

53
Head And Neck Eyes:
small pupils
nonreactive or poorly reactive pupils
featureless surface of iris
poorly developed collarettes
poorly developed crypts
more

Clinical features from OMIM:

156600

Human phenotypes related to Microcoria, Congenital:

31
# Description HPO Frequency HPO Source Accession
1 myopia 31 HP:0000545
2 glaucoma 31 occasional (7.5%) HP:0000501
3 miosis 31 HP:0000616
4 hypoplasia of the iris dilator muscle 31 HP:0008345
5 microcoria 31 HP:0025492

Drugs & Therapeutics for Microcoria, Congenital

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168

Search NIH Clinical Center for Microcoria, Congenital

Genetic Tests for Microcoria, Congenital

Anatomical Context for Microcoria, Congenital

MalaCards organs/tissues related to Microcoria, Congenital:

38
Eye

Publications for Microcoria, Congenital

Articles related to Microcoria, Congenital:

# Title Authors Year
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

Expression for Microcoria, Congenital

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

Pathways for Microcoria, Congenital

GO Terms for Microcoria, Congenital

Sources for Microcoria, Congenital

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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