MCOR
MCID: MCR067
MIFTS: 20

Microcoria, Congenital (MCOR) malady

Categories: Rare diseases, Eye diseases, Fetal diseases

Aliases & Classifications for Microcoria, Congenital

Aliases & Descriptions for Microcoria, Congenital:

Name: Microcoria, Congenital 54 50 13
Congenital Microcoria 50 56
Congenital Miosis 50 56
Miosis, Congenital 50
Pinhole Pupils 50
Mcor 50

Characteristics:

Orphanet epidemiological data:

56
congenital microcoria
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal;

HPO:

32
microcoria, congenital:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 54 156600
Orphanet 56 ORPHA566
MESH via Orphanet 43 C537550
UMLS via Orphanet 70 C1303009

Summaries for Microcoria, Congenital

OMIM : 54 Inherited congenital microcoria, also referred to as congenital miosis, is characterized by bilateral small pupils... (156600) more...

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

NIH Rare Diseases : 50 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

Related Diseases for Microcoria, Congenital

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

id Related Disease Score Top Affiliating Genes
1 pierson syndrome 11.6
2 spastic ataxia 7, autosomal dominant 11.0
3 stormorken syndrome 10.8
4 myopathy 9.8

Symptoms & Phenotypes for Microcoria, Congenital

Symptoms by clinical synopsis from OMIM:

156600

Clinical features from OMIM:

156600

Human phenotypes related to Microcoria, Congenital:

32
id Description HPO Frequency HPO Source Accession
1 glaucoma 32 HP:0000501
2 myopia 32 HP:0000545
3 miosis 32 HP:0000616
4 hypoplasia of the iris dilator muscle 32 HP:0008345

Drugs & Therapeutics for Microcoria, Congenital

Interventional clinical trials:


id Name Status NCT ID Phase
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:

39
Eye

Publications for Microcoria, Congenital

Articles related to Microcoria, Congenital:

id 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
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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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