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 57 76 53 13
Congenital Microcoria 53 59
Miosis, Congenital 57 53
Congenital Miosis 53 59
Mcor 57 53
Chromosome 13q32 Deletion Syndrome 57
Pinhole Pupils 53

Characteristics:

Orphanet epidemiological data:

59
congenital microcoria
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
contiguous gene deletion syndrome


HPO:

32
microcoria, congenital:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 156600
Orphanet 59 ORPHA566
MESH via Orphanet 45 C537550
UMLS via Orphanet 74 C1303009
MedGen 42 C1303009

Summaries for Microcoria, Congenital

NIH Rare Diseases : 53 Congenital microcoria is a rare eye disorder affecting the development of the irises. It is characterized by absence or incomplete development of the iris dilator muscles (also called the pupil dilator muscles), making the pupils unable to dilate (widen). People with congenital microcoria have small pupils (with a diameter less than 2 millimeters) that dilate poorly or not at all, even when pupil-dilating medicines (eye drops) are put on the eye. The disorder is also often associated with nearsightedness, and glaucoma in childhood or early adulthood. Congenital microcoria that is not associated with an underlying syndrome is caused by a small, missing piece of genetic material (deletion) around a region of chromosome 13 designated as 13q32. This region contains several genes, although it appears the exact gene or genes in the region responsible for congenital microcoria are still under investigation. Inheritance is autosomal dominant. Congenital microcoria is also a feature of autosomal recessivePierson syndrome, caused by mutations in the LAMB2 gene. Standard treatment guidelines for congenital microcoria have not been established, but glaucoma usually requires medicine or surgery to lower pressure within the eyes. Eye glasses or contacts may be used for nearsightedness.

MalaCards based summary : Microcoria, Congenital, also known as congenital microcoria, is related to pierson syndrome and spastic ataxia 7, autosomal dominant. An important gene associated with Microcoria, Congenital is MCOR (Microcoria, Congenital). Affiliated tissues include eye, and related phenotypes are glaucoma and myopia

OMIM : 57 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)

Wikipedia : 76 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:

57
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:

32
# Description HPO Frequency HPO Source Accession
1 glaucoma 32 occasional (7.5%) HP:0000501
2 myopia 32 HP:0000545
3 miosis 32 HP:0000616
4 hypoplasia of the iris dilator muscle 32 HP:0008345
5 microcoria 32 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:

41
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
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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