MCOR
MCID: MCR067
MIFTS: 26

Microcoria, Congenital (MCOR)

Categories: Eye diseases, Fetal diseases, Muscle diseases, Rare diseases

Aliases & Classifications for Microcoria, Congenital

MalaCards integrated aliases for Microcoria, Congenital:

Name: Microcoria, Congenital 57 73 20 13
Congenital Miosis 20 58 6
Congenital Microcoria 20 58
Miosis, Congenital 57 20
Mcor 57 20
Chromosome 13q32 Deletion Syndrome 57
Pinhole Pupils 20

Characteristics:

Orphanet epidemiological data:

58
congenital microcoria
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant

Miscellaneous:
contiguous gene deletion syndrome


HPO:

31
microcoria, congenital:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare eye diseases
Developmental anomalies during embryogenesis


External Ids:

OMIM® 57 156600
MESH via Orphanet 45 C537550
ICD10 via Orphanet 33 Q13.8
UMLS via Orphanet 71 C1303009
Orphanet 58 ORPHA566
MedGen 41 C1303009

Summaries for Microcoria, Congenital

GARD : 20 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 recessive Pierson 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 miosis, 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 ocular hypertension

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) (Updated 05-Apr-2021)

Wikipedia : 73 Microcoria is a congenital disease in which the pupils of the subject are narrower than 2 mm in... more...

Related Diseases for Microcoria, Congenital

Graphical network of the top 20 diseases related to Microcoria, Congenital:



Diseases related to Microcoria, Congenital

Symptoms & Phenotypes for Microcoria, Congenital

Human phenotypes related to Microcoria, Congenital:

31 (show all 6)
# Description HPO Frequency HPO Source Accession
1 glaucoma 31 occasional (7.5%) HP:0000501
2 ocular hypertension 31 very rare (1%) HP:0007906
3 myopia 31 HP:0000545
4 miosis 31 HP:0000616
5 hypoplasia of the iris dilator muscle 31 HP:0008345
6 microcoria 31 HP:0025492

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Eyes:
myopia
hypoplasia of the iris dilator muscle
glaucoma (in some patients)
small pupils
nonreactive or poorly reactive pupils
more

Clinical features from OMIM®:

156600 (Updated 05-Apr-2021)

Drugs & Therapeutics for Microcoria, Congenital

Search Clinical Trials , NIH Clinical Center for Microcoria, Congenital

Genetic Tests for Microcoria, Congenital

Anatomical Context for Microcoria, Congenital

MalaCards organs/tissues related to Microcoria, Congenital:

40
Eye

Publications for Microcoria, Congenital

Articles related to Microcoria, Congenital:

(show all 27)
# Title Authors PMID Year
1
CONGENITAL MIOSIS OR PINHOLE PUPILS OWING TO DEVELOPMENTAL FAULTS OF THE DILATATOR MUSCLE. 57 61
18168325 1923
2
Submicroscopic deletions at 13q32.1 cause congenital microcoria. 57
25772937 2015
3
Ultrabiomicroscopic-histopathologic correlations in individuals with autosomal dominant congenital microcoria: three-generation family report. 57
21677884 2011
4
Congenital microcoria associated with late-onset developmental glaucoma. 57
16148591 2005
5
Mapping of a congenital microcoria locus to 13q31-q32. 57
9545411 1998
6
Association of congenital microcoria with myopia and glaucoma. A study of 23 patients with congenital microcoria. 57
7862406 1995
7
The ultrastructural pathological features of congenital microcoria. A case report. 57
2910294 1989
8
Hereditary cases of congenital microcoria and goniodysgenesis. 57
3785880 1986
9
Familial cases of congenital microcoria associated with late onset congenital glaucoma and goniodysgenesis. 57
6855021 1983
10
A novel gain-of-function mutation in ORAI1 causes late-onset tubular aggregate myopathy and congenital miosis. 61
27882542 2017
11
A novel mutation of laminin β2 (LAMB2) in two siblings with renal failure. 61
28188379 2017
12
Activating mutations in STIM1 and ORAI1 cause overlapping syndromes of tubular myopathy and congenital miosis. 61
24591628 2014
13
Paternal isodisomy of chromosome 3 unmasked by autosomal recessive microcoria-congenital nephrosis syndrome (Pierson syndrome) in a child with no other phenotypic abnormalities. 61
21910237 2011
14
Unique Ocular Findings in an Infant with Pierson (Microcoria-Congenital Nephrosis) Syndrome. 61
19645379 2009
15
Neurodevelopmental deficits in Pierson (microcoria-congenital nephrosis) syndrome. 61
17256789 2007
16
Recessive missense mutations in LAMB2 expand the clinical spectrum of LAMB2-associated disorders. 61
16912710 2006
17
Congenital nephrosis, mesangial sclerosis, and distinct eye abnormalities with microcoria: an autosomal recessive syndrome. 61
15372515 2004
18
[Muscle involvement of Stormorken's syndrome]. 61
11257789 2000
19
Developmental anomalies and abnormalities of the equine iris. 61
11397289 2000
20
Autosomal dominant congenital miosis with megalocornea. 61
1495762 1992
21
Fine structural defects in a case of congenital microcoria. 61
2920912 1989
22
Hereditary spastic ataxia with congenital miosis: four cases in one family. 61
6821680 1983
23
Congenital miosis. 61
421161 1979
24
Congenital eye defects. Congenital miosis associated with sex-linked congenital cataracts. 61
338845 1977
25
[Congenital miosis and albinism]. 61
5654419 1968
26
A CASE OF CONGENITAL MIOSIS. 61
18168391 1924
27
CONGENITAL MIOSIS AND THE NORMAL MUSCULUS DILATATOR PUPILLAE. 61
18168353 1923

Variations for Microcoria, Congenital

ClinVar genetic disease variations for Microcoria, Congenital:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 overlap with 2 genes Deletion Pathogenic 989396 GRCh37: 13:95209609-95292265
GRCh38:

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 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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