MCOP6
MCID: MCR211
MIFTS: 37

Microphthalmia, Isolated 6 (MCOP6)

Categories: Eye diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Microphthalmia, Isolated 6

MalaCards integrated aliases for Microphthalmia, Isolated 6:

Name: Microphthalmia, Isolated 6 56 29 13 6 71
Mcop6 56 12 73
Isolated Microphthalmia 6 12 15
Autosomal Recessive Posterior Microphthalmos 73
Microphthalmia, Posterior Nonsyndromic 56
Posterior Non-Syndromic Microphthalmia 73
Posterior Nonsyndromic Microphthalmia 12
Microphthalmia, Isolated, Type 6 39
Microphthalmia, Isolated, 6 73

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
corneal steepening is proportional to the degree of axial foreshortening
corneal diameter decreases with decreasing axial length


HPO:

31
microphthalmia, isolated 6:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0060835
OMIM 56 613517
OMIM Phenotypic Series 56 PS251600
MeSH 43 D008850
ICD10 32 Q11.0
MedGen 41 C3150757
UMLS 71 C3150757

Summaries for Microphthalmia, Isolated 6

OMIM : 56 Autosomal recessive isolated posterior microphthalmos defines a rare distinct phenotype restricted to the posterior segment of the eye. In adults, it is clinically characterized by extreme hyperopia (from +7.5 to +21 diopters) due to short axial length (14 mm to 20 mm; normal is greater than 21 mm). Other features include an essentially normal anterior segment, steep corneal curvatures, shallow anterior chamber, thick lenses, and thickened scleral wall. The palpebral fissures appear narrow because of relatively deep-set eyes, visual acuity is mildly to moderately reduced, and anisometropic or strabismic amblyopia is common. The fundus of the eye shows crowded optical discs, tortuous vessels, and an abnormal foveal avascular zone; in addition, papillomacular folds are often reported. Morphometric features of the small eyes predispose to complications such as narrow-angle glaucoma and uveal effusion (summary by Gal et al., 2011). For a general phenotypic description and a discussion of genetic heterogeneity of isolated microphthalmia, see MCOP1 (251600). (613517)

MalaCards based summary : Microphthalmia, Isolated 6, also known as mcop6, is related to microphthalmia and nanophthalmos 2. An important gene associated with Microphthalmia, Isolated 6 is PRSS56 (Serine Protease 56). Affiliated tissues include eye, and related phenotypes are microcornea and ocular hypertension

Disease Ontology : 12 An isolated microphthalmia characterized by autosomal recessive inheritance reduction in eye size that is restricted to the posterior segment of the eye, extreme hyperopia, and short axial length that has material basis in homozygous or compound heterozygous mutation in the PRSS56 gene on chromosome 2q37.

UniProtKB/Swiss-Prot : 73 Microphthalmia, isolated, 6: A developmental ocular disorder characterized by small malformed eyes. Clinical features are extreme hyperopia due to short axial length with essentially normal anterior segment, steep corneal curvatures, shallow anterior chamber, thick lenses, and thickened scleral wall. Palpebral fissures appear narrow because of relatively deep-set eyes, visual acuity is mildly to moderately reduced, and anisometropic or strabismic amblyopia is common. The fundus of the eye shows crowded optical disks, tortuous vessels, and an abnormal foveal avascular zone.

Related Diseases for Microphthalmia, Isolated 6

Diseases in the Isolated Microphthalmia family:

Microphthalmia, Isolated 1 Microphthalmia, Isolated 2
Microphthalmia, Isolated 3 Microphthalmia, Isolated 5
Microphthalmia, Isolated 4 Microphthalmia, Isolated 6
Microphthalmia, Isolated 7 Microphthalmia, Isolated 8

Diseases related to Microphthalmia, Isolated 6 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 22)
# Related Disease Score Top Affiliating Genes
1 microphthalmia 29.7 VSX2 PRSS56 MFRP BEST1
2 nanophthalmos 2 10.3 MFRP C1QTNF5
3 microphthalmia, isolated 5 10.3 MFRP C1QTNF5
4 isolated microphthalmia 10.2 VSX2 PRSS56
5 pseudopapilledema 10.2 PRSS56 CRB1
6 optic disk drusen 10.1 MFRP CRB1
7 primary angle-closure glaucoma 10.0 VSX2 PRSS56
8 chorioretinal scar 9.9 CRB1 BEST1
9 late-onset retinal degeneration 9.9 MFRP CRB1 C1QTNF5
10 bestrophinopathy, autosomal recessive 9.9 CRB1 BEST1
11 macular dystrophy, dominant cystoid 9.9 CRB1 BEST1
12 hereditary retinal dystrophy 9.9 CRB1 BEST1
13 macular retinal edema 9.8 CRB1 BEST1
14 eye degenerative disease 9.7 VSX2 CRB1 BEST1
15 retinoschisis 1, x-linked, juvenile 9.7 CRB1 BEST1
16 congenital stationary night blindness 9.6 VSX2 CRB1 BEST1
17 retinal degeneration 9.5 MFRP CRB1 C1QTNF5 BEST1
18 degeneration of macula and posterior pole 9.5 CRB1 BEST1
19 optic nerve hypoplasia, bilateral 9.5 VSX2 TMEM98 CRB1 BEST1
20 nanophthalmos 8.8 VSX2 TMEM98 PRSS56 MFRP CRB1 C1QTNF5
21 fundus dystrophy 8.8 VSX2 TMEM98 PRSS56 MFRP CRB1 C1QTNF5
22 retinitis pigmentosa 8.6 VSX2 PRSS56 MFRP CRB1 BEST1 BACE1

Graphical network of the top 20 diseases related to Microphthalmia, Isolated 6:



Diseases related to Microphthalmia, Isolated 6

Symptoms & Phenotypes for Microphthalmia, Isolated 6

Human phenotypes related to Microphthalmia, Isolated 6:

31 (show all 6)
# Description HPO Frequency HPO Source Accession
1 microcornea 31 occasional (7.5%) HP:0000482
2 ocular hypertension 31 very rare (1%) HP:0007906
3 microphthalmia 31 HP:0000568
4 high hypermetropia 31 HP:0008499
5 scleral thickening 31 HP:0030823
6 retinal fold 31 HP:0008052

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Eyes:
microcornea (in some patients)
elevated intraocular pressure (in some patients)
high hyperopia
foreshortening of axial length of eyes (bilateral)
shallow anterior chamber and angle (in some patients)
more

Clinical features from OMIM:

613517

GenomeRNAi Phenotypes related to Microphthalmia, Isolated 6 according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-145 9.35 RNMT
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-178 9.35 C1QTNF5 MFRP
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-26 9.35 C1QTNF5 MFRP
4 Decreased viability after Chlamydia trachomatis serovar L2 infection and TNF-alpha/CHX stimulation GR00206-A 8.62 NOS1 RDX

MGI Mouse Phenotypes related to Microphthalmia, Isolated 6:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 9.81 BACE1 C1QTNF5 CRB1 MFRP NMRK2 NOS1
2 pigmentation MP:0001186 9.5 BACE1 BEST1 C1QTNF5 CRB1 MFRP TMEM98
3 vision/eye MP:0005391 9.23 BEST1 C1QTNF5 CRB1 MFRP NOS1 PRSS56

Drugs & Therapeutics for Microphthalmia, Isolated 6

Search Clinical Trials , NIH Clinical Center for Microphthalmia, Isolated 6

Genetic Tests for Microphthalmia, Isolated 6

Genetic tests related to Microphthalmia, Isolated 6:

# Genetic test Affiliating Genes
1 Microphthalmia, Isolated 6 29 PRSS56

Anatomical Context for Microphthalmia, Isolated 6

MalaCards organs/tissues related to Microphthalmia, Isolated 6:

40
Eye

Publications for Microphthalmia, Isolated 6

Articles related to Microphthalmia, Isolated 6:

# Title Authors PMID Year
1
Autosomal-recessive posterior microphthalmos is caused by mutations in PRSS56, a gene encoding a trypsin-like serine protease. 61 56 6
21397065 2011
2
Biometric and molecular characterization of clinically diagnosed posterior microphthalmos. 56 6
23127749 2013
3
Posterior microphthalmos as a genetically heterogeneous condition that can be allelic to nanophthalmos. 6 56
21670352 2011
4
Alteration of the serine protease PRSS56 causes angle-closure glaucoma in mice and posterior microphthalmia in humans and mice. 56 6
21532570 2011
5
Mutations in a novel serine protease PRSS56 in families with nanophthalmos. 6 56
21850159 2011
6
A genome-wide linkage scan in Tunisian families identifies a novel locus for non-syndromic posterior microphthalmia to chromosome 2q37.1. 6 56
19526372 2009
7
Hereditary high hypermetropia in the Faroe Islands. 56 6
15823920 2005
8
Classification of microphthalmos and coloboma. 56
8411053 1993

Variations for Microphthalmia, Isolated 6

ClinVar genetic disease variations for Microphthalmia, Isolated 6:

6 (show all 41) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 PRSS56 NM_001195129.2(PRSS56):c.926G>C (p.Trp309Ser)SNV Pathogenic 31079 rs387907095 2:233388202-233388202 2:232523492-232523492
2 PRSS56 NM_001195129.2(PRSS56):c.526C>G (p.Arg176Gly)SNV Pathogenic 31080 rs387907096 2:233387304-233387304 2:232522594-232522594
3 PRSS56 NM_001195129.2(PRSS56):c.1066dup (p.Gln356fs)duplication Pathogenic 31077 rs730882064 2:233388527-233388528 2:232523817-232523818
4 PRSS56 NM_001195129.2(PRSS56):c.958G>A (p.Gly320Arg)SNV Pathogenic 183170 rs730882158 2:233388234-233388234 2:232523524-232523524
5 PRSS56 NM_001195129.2(PRSS56):c.833dup (p.Val279fs)duplication Pathogenic 183172 rs730882159 2:233387890-233387891 2:232523180-232523181
6 PRSS56 NM_001195129.2(PRSS56):c.709G>A (p.Gly237Arg)SNV Pathogenic 183173 rs730882160 2:233387772-233387772 2:232523062-232523062
7 PRSS56 NM_001195129.2(PRSS56):c.1183T>C (p.Cys395Arg)SNV Pathogenic 183174 rs730882161 2:233388652-233388652 2:232523942-232523942
8 PRSS56 NM_001195129.2(PRSS56):c.1555G>A (p.Gly519Arg)SNV Pathogenic 183175 rs730882162 2:233389959-233389959 2:232525249-232525249
9 C1QTNF5 , MFRP NM_031433.4(MFRP):c.773-9C>TSNV Conflicting interpretations of pathogenicity 198596 rs187321874 11:119215476-119215476 11:119344766-119344766
10 C1QTNF5 , MFRP NM_031433.4(MFRP):c.1124+11C>GSNV Conflicting interpretations of pathogenicity 68067 rs199473709 11:119214515-119214515 11:119343805-119343805
11 C1QTNF5 , MFRP NM_031433.4(MFRP):c.195C>T (p.Phe65=)SNV Conflicting interpretations of pathogenicity 302976 rs138913508 11:119216832-119216832 11:119346122-119346122
12 C1QTNF5 , MFRP NM_031433.4(MFRP):c.*849G>CSNV Conflicting interpretations of pathogenicity 302936 rs185696769 11:119211409-119211409 11:119340699-119340699
13 C1QTNF5 , MFRP NM_031433.4(MFRP):c.191G>A (p.Arg64His)SNV Conflicting interpretations of pathogenicity 302978 rs149376662 11:119216836-119216836 11:119346126-119346126
14 C1QTNF5 , MFRP NM_031433.4(MFRP):c.*895C>TSNV Uncertain significance 302933 rs751853220 11:119211109-119211109 11:119340399-119340399
15 C1QTNF5 , MFRP NM_031433.4(MFRP):c.583G>A (p.Ala195Thr)SNV Uncertain significance 302968 rs886047833 11:119216188-119216188 11:119345478-119345478
16 C1QTNF5 , MFRP NM_031433.4(MFRP):c.1560G>C (p.Leu520=)SNV Uncertain significance 302949 rs886047829 11:119212438-119212438 11:119341728-119341728
17 C1QTNF5 , MFRP NM_031433.4(MFRP):c.-108G>ASNV Uncertain significance 302988 rs143241967 11:119217331-119217331 11:119346621-119346621
18 C1QTNF5 , MFRP NM_031433.4(MFRP):c.*316C>GSNV Uncertain significance 302942 rs556985308 11:119211942-119211942 11:119341232-119341232
19 C1QTNF5 , MFRP NM_031433.4(MFRP):c.303C>T (p.Ser101=)SNV Uncertain significance 302974 rs530322096 11:119216607-119216607 11:119345897-119345897
20 VSX2 NM_182894.3(VSX2):c.863G>A (p.Arg288Gln)SNV Uncertain significance 314200 rs375426810 14:74727399-74727399 14:74260696-74260696
21 VSX2 NM_182894.3(VSX2):c.*1347G>ASNV Uncertain significance 314223 rs565380755 14:74728969-74728969 14:74262266-74262266
22 C1QTNF5 , MFRP NM_031433.4(MFRP):c.456G>C (p.Arg152Ser)SNV Uncertain significance 302971 rs756071297 11:119216315-119216315 11:119345605-119345605
23 C1QTNF5 , MFRP NM_031433.4(MFRP):c.-57C>TSNV Uncertain significance 302985 rs139821533 11:119217280-119217280 11:119346570-119346570
24 PRSS56 NM_001195129.2(PRSS56):c.1449G>T (p.Leu483Phe)SNV Uncertain significance 487220 rs948668266 2:233389482-233389482 2:232524772-232524772
25 PRSS56 NM_001195129.2(PRSS56):c.145G>A (p.Ala49Thr)SNV Uncertain significance 538840 rs758558652 2:233386078-233386078 2:232521368-232521368
26 PRSS56 NM_001195129.2(PRSS56):c.904G>T (p.Val302Phe)SNV Uncertain significance 183171 rs74703359 2:233388180-233388180 2:232523470-232523470
27 PRSS56 NM_001195129.2(PRSS56):c.357G>A (p.Leu119=)SNV Uncertain significance 847105 2:233386781-233386781 2:232522071-232522071
28 VSX2 NM_182894.3(VSX2):c.-43dupduplication Uncertain significance 314191 rs557085907 14:74706216-74706217 14:74239513-74239514
29 C1QTNF5 , MFRP NM_031433.4(MFRP):c.-88C>TSNV Likely benign 302987 rs883245 11:119217311-119217311 11:119346601-119346601
30 C1QTNF5 , MFRP NM_031433.4(MFRP):c.*1690A>TSNV Likely benign 302922 rs9640 11:119209979-119209979 11:119339269-119339269
31 C1QTNF5 , MFRP NM_031433.4(MFRP):c.954G>A (p.Leu318=)SNV Likely benign 302959 rs35885438 11:119215046-119215046 11:119344336-119344336
32 C1QTNF5 , MFRP NM_031433.4(MFRP):c.-31G>ASNV Likely benign 302982 rs883247 11:119217254-119217254 11:119346544-119346544
33 VSX2 NM_182894.3(VSX2):c.*1548_*1549deldeletion Likely benign 314228 rs10592020 14:74729167-74729168 14:74262464-74262465
34 C1QTNF5 , MFRP NM_031433.4(MFRP):c.1387+3G>ASNV Benign/Likely benign 261962 rs11217241 11:119213303-119213303 11:119342593-119342593
35 C1QTNF5 , MFRP NM_031433.4(MFRP):c.492C>T (p.Tyr164=)SNV Benign/Likely benign 143157 rs36015759 11:119216279-119216279 11:119345569-119345569
36 C1QTNF5 , MFRP NM_031433.4(MFRP):c.406G>A (p.Val136Met)SNV Benign/Likely benign 167299 rs3814762 11:119216504-119216504 11:119345794-119345794
37 C1QTNF5 , MFRP NM_031433.4(MFRP):c.540T>C (p.His180=)SNV Benign/Likely benign 167297 rs2510143 11:119216231-119216231 11:119345521-119345521
38 PRSS56 NM_001195129.2(PRSS56):c.205+10C>GSNV Benign 707140 2:233386148-233386148 2:232521438-232521438
39 PRSS56 NM_001195129.2(PRSS56):c.1521+10C>TSNV Benign 707588 2:233389564-233389564 2:232524854-232524854
40 PRSS56 NM_001195129.2(PRSS56):c.600G>A (p.Pro200=)SNV Benign 767012 2:233387465-233387465 2:232522755-232522755
41 PRSS56 NM_001195129.2(PRSS56):c.1795C>G (p.Pro599Ala)SNV Benign 31078 rs61744404 2:233390199-233390199 2:232525489-232525489

UniProtKB/Swiss-Prot genetic disease variations for Microphthalmia, Isolated 6:

73
# Symbol AA change Variation ID SNP ID
1 PRSS56 p.Arg176Gly VAR_065076 rs387907096
2 PRSS56 p.Trp309Ser VAR_065077 rs387907095
3 PRSS56 p.Gly237Arg VAR_069226 rs730882160
4 PRSS56 p.Val302Phe VAR_069227 rs74703359
5 PRSS56 p.Gly320Arg VAR_069228 rs730882158
6 PRSS56 p.Cys395Arg VAR_069229 rs730882161
7 PRSS56 p.Pro599Ala VAR_069230 rs61744404

Expression for Microphthalmia, Isolated 6

Search GEO for disease gene expression data for Microphthalmia, Isolated 6.

Pathways for Microphthalmia, Isolated 6

GO Terms for Microphthalmia, Isolated 6

Cellular components related to Microphthalmia, Isolated 6 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 plasma membrane GO:0005886 9.61 TMEM98 RDX NOS1 NMRK2 MFRP CRB1
2 photoreceptor inner segment GO:0001917 9.26 NOS1 CRB1
3 T-tubule GO:0030315 9.16 RDX NOS1
4 apical plasma membrane GO:0016324 8.92 RDX MFRP CRB1 C1QTNF5

Biological processes related to Microphthalmia, Isolated 6 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 detection of light stimulus involved in visual perception GO:0050908 9.16 CRB1 BEST1
2 eye photoreceptor cell development GO:0042462 8.96 MFRP CRB1
3 visual perception GO:0007601 8.92 VSX2 MFRP CRB1 BEST1

Sources for Microphthalmia, Isolated 6

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....