MCOP6
MCID: MCR211
MIFTS: 38

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 57 29 13 6 70
Mcop6 57 12 72
Isolated Microphthalmia 6 12 15
Autosomal Recessive Posterior Microphthalmos 72
Microphthalmia, Posterior Nonsyndromic 57
Posterior Non-Syndromic Microphthalmia 72
Posterior Nonsyndromic Microphthalmia 12
Microphthalmia, Isolated, Type 6 39
Microphthalmia, Isolated, 6 72

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
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® 57 613517
OMIM Phenotypic Series 57 PS251600
MeSH 44 D008850
ICD10 32 Q11.0
MedGen 41 C3150757
UMLS 70 C3150757

Summaries for Microphthalmia, Isolated 6

OMIM® : 57 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) (Updated 20-May-2021)

MalaCards based summary : Microphthalmia, Isolated 6, also known as mcop6, is related to microphthalmia and nanophthalmos. An important gene associated with Microphthalmia, Isolated 6 is PRSS56 (Serine Protease 56). Affiliated tissues include eye and retina, 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 : 72 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 29)
# Related Disease Score Top Affiliating Genes
1 microphthalmia 29.7 VSX2 PRSS56 MFRP BEST1
2 nanophthalmos 28.7 VSX2 TMEM98 PRSS56 MFRP CRB1 C1QTNF5
3 nanophthalmos 2 10.2 MFRP C1QTNF5
4 microphthalmia, isolated 5 10.2 MFRP C1QTNF5
5 kenny-caffey syndrome, type 2 10.2 TMEM98 PRSS56
6 kenny-caffey syndrome 10.2 TMEM98 PRSS56
7 pseudopapilledema 10.1 PRSS56 CRB1
8 primary angle-closure glaucoma 10.1 VSX2 PRSS56
9 optic disk drusen 10.1 MFRP CRB1
10 isolated microphthalmia 10.0 VSX2 PRSS56 MFRP
11 chorioretinal scar 9.9 CRB1 BEST1
12 gyrate atrophy of choroid and retina 9.9 VSX2 BEST1
13 peripheral retinal degeneration 9.9 CRB1 BEST1
14 macular dystrophy, dominant cystoid 9.9 CRB1 BEST1
15 bestrophinopathy, autosomal recessive 9.9 CRB1 BEST1
16 hereditary retinal dystrophy 9.9 CRB1 BEST1
17 macular retinal edema 9.9 CRB1 BEST1
18 degeneration of macula and posterior pole 9.8 CRB1 BEST1
19 retinoschisis 1, x-linked, juvenile 9.8 CRB1 BEST1
20 stargardt disease 1 9.7 CRB1 BEST1
21 eye degenerative disease 9.7 VSX2 CRB1 BEST1
22 congenital stationary night blindness 9.7 VSX2 CRB1 BEST1
23 late-onset retinal degeneration 9.6 MFRP CRB1 C1QTNF5 BEST1
24 retinal degeneration 9.6 MFRP CRB1 C1QTNF5 BEST1
25 vitelliform macular dystrophy 9.6 CRB1 BEST1
26 optic nerve hypoplasia, bilateral 9.5 VSX2 TMEM98 CRB1 BEST1
27 macular degeneration, age-related, 1 9.5 VSX2 CRB1 BEST1
28 retinitis pigmentosa 9.2 VSX2 PRSS56 MFRP CRB1 C1QTNF5 BEST1
29 fundus dystrophy 9.0 VSX2 TMEM98 PRSS56 MFRP CRB1 C1QTNF5

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®:

57 (Updated 20-May-2021)
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 (Updated 20-May-2021)

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 9.96 RNMT
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-161 9.96 VSX2
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-178 9.96 C1QTNF5 MFRP
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-26 9.96 C1QTNF5 MFRP
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-9 9.96 VSX2
6 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:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 9.7 C1QTNF5 CRB1 MFRP NOS1 PRSS56 RDX
2 pigmentation MP:0001186 9.5 BEST1 C1QTNF5 CRB1 MFRP PRSS56 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, Retina

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 57 6
21397065 2011
2
Biometric and molecular characterization of clinically diagnosed posterior microphthalmos. 6 57
23127749 2013
3
Posterior microphthalmos as a genetically heterogeneous condition that can be allelic to nanophthalmos. 6 57
21670352 2011
4
Alteration of the serine protease PRSS56 causes angle-closure glaucoma in mice and posterior microphthalmia in humans and mice. 57 6
21532570 2011
5
Mutations in a novel serine protease PRSS56 in families with nanophthalmos. 6 57
21850159 2011
6
A genome-wide linkage scan in Tunisian families identifies a novel locus for non-syndromic posterior microphthalmia to chromosome 2q37.1. 57 6
19526372 2009
7
Hereditary high hypermetropia in the Faroe Islands. 57 6
15823920 2005
8
Genotype-phenotype spectrum in isolated and syndromic nanophthalmos. 6
32996714 2020
9
Classification of microphthalmos and coloboma. 57
8411053 1993

Variations for Microphthalmia, Isolated 6

ClinVar genetic disease variations for Microphthalmia, Isolated 6:

6 (show all 48)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PRSS56 NM_001195129.2(PRSS56):c.926G>C (p.Trp309Ser) SNV Pathogenic 31079 rs387907095 GRCh37: 2:233388202-233388202
GRCh38: 2:232523492-232523492
2 PRSS56 NM_001195129.2(PRSS56):c.526C>G (p.Arg176Gly) SNV Pathogenic 31080 rs387907096 GRCh37: 2:233387304-233387304
GRCh38: 2:232522594-232522594
3 PRSS56 NM_001195129.2(PRSS56):c.958G>A (p.Gly320Arg) SNV Pathogenic 183170 rs730882158 GRCh37: 2:233388234-233388234
GRCh38: 2:232523524-232523524
4 PRSS56 NM_001195129.2(PRSS56):c.709G>A (p.Gly237Arg) SNV Pathogenic 183173 rs730882160 GRCh37: 2:233387772-233387772
GRCh38: 2:232523062-232523062
5 PRSS56 NM_001195129.2(PRSS56):c.1183T>C (p.Cys395Arg) SNV Pathogenic 183174 rs730882161 GRCh37: 2:233388652-233388652
GRCh38: 2:232523942-232523942
6 PRSS56 NM_001195129.2(PRSS56):c.1555G>A (p.Gly519Arg) SNV Pathogenic 183175 rs730882162 GRCh37: 2:233389959-233389959
GRCh38: 2:232525249-232525249
7 PRSS56 NM_001195129.2(PRSS56):c.833dup (p.Val279fs) Duplication Pathogenic 183172 rs730882159 GRCh37: 2:233387890-233387891
GRCh38: 2:232523180-232523181
8 PRSS56 NM_001195129.2(PRSS56):c.961del (p.Val321fs) Deletion Pathogenic 1027812 GRCh37: 2:233388234-233388234
GRCh38: 2:232523524-232523524
9 PRSS56 NM_001195129.2(PRSS56):c.339del (p.Ala115fs) Deletion Pathogenic 1033781 GRCh37: 2:233386761-233386761
GRCh38: 2:232522051-232522051
10 PRSS56 NM_001195129.2(PRSS56):c.1066dup (p.Gln356fs) Duplication Pathogenic 31077 rs730882064 GRCh37: 2:233388527-233388528
GRCh38: 2:232523817-232523818
11 PRSS56 NM_001195129.2(PRSS56):c.1202C>A (p.Ala401Glu) SNV Pathogenic 915448 GRCh37: 2:233388764-233388764
GRCh38: 2:232524054-232524054
12 PRSS56 NM_001195129.2(PRSS56):c.94del (p.Gln32fs) Deletion Likely pathogenic 932138 GRCh37: 2:233385402-233385402
GRCh38: 2:232520692-232520692
13 PRSS56 NM_001195129.2(PRSS56):c.357G>A (p.Leu119=) SNV Uncertain significance 847105 GRCh37: 2:233386781-233386781
GRCh38: 2:232522071-232522071
14 C1QTNF5 , MFRP NM_031433.4(MFRP):c.-57C>T SNV Uncertain significance 302985 rs139821533 GRCh37: 11:119217280-119217280
GRCh38: 11:119346570-119346570
15 C1QTNF5 , MFRP NM_031433.4(MFRP):c.1560G>C (p.Leu520=) SNV Uncertain significance 302949 rs886047829 GRCh37: 11:119212438-119212438
GRCh38: 11:119341728-119341728
16 C1QTNF5 , MFRP NM_031433.4(MFRP):c.773-9C>T SNV Uncertain significance 198596 rs187321874 GRCh37: 11:119215476-119215476
GRCh38: 11:119344766-119344766
17 C1QTNF5 , MFRP NM_031433.4(MFRP):c.*849G>C SNV Uncertain significance 302936 rs185696769 GRCh37: 11:119211409-119211409
GRCh38: 11:119340699-119340699
18 C1QTNF5 , MFRP NM_031433.4(MFRP):c.*316C>G SNV Uncertain significance 302942 rs556985308 GRCh37: 11:119211942-119211942
GRCh38: 11:119341232-119341232
19 C1QTNF5 , MFRP NM_031433.4(MFRP):c.195C>T (p.Phe65=) SNV Uncertain significance 302976 rs138913508 GRCh37: 11:119216832-119216832
GRCh38: 11:119346122-119346122
20 C1QTNF5 , MFRP NM_031433.4(MFRP):c.-108G>A SNV Uncertain significance 302988 rs143241967 GRCh37: 11:119217331-119217331
GRCh38: 11:119346621-119346621
21 C1QTNF5 , MFRP NM_031433.4(MFRP):c.*895C>T SNV Uncertain significance 302933 rs751853220 GRCh37: 11:119211109-119211109
GRCh38: 11:119340399-119340399
22 C1QTNF5 , MFRP NM_031433.4(MFRP):c.191G>A (p.Arg64His) SNV Uncertain significance 302978 rs149376662 GRCh37: 11:119216836-119216836
GRCh38: 11:119346126-119346126
23 PRSS56 NM_001195129.2(PRSS56):c.1396C>A (p.Pro466Thr) SNV Uncertain significance 936664 GRCh37: 2:233389061-233389061
GRCh38: 2:232524351-232524351
24 PRSS56 NM_001195129.2(PRSS56):c.145G>A (p.Ala49Thr) SNV Uncertain significance 538840 rs758558652 GRCh37: 2:233386078-233386078
GRCh38: 2:232521368-232521368
25 PRSS56 NM_001195129.2(PRSS56):c.1449G>T (p.Leu483Phe) SNV Uncertain significance 487220 rs948668266 GRCh37: 2:233389482-233389482
GRCh38: 2:232524772-232524772
26 PRSS56 NM_001195129.2(PRSS56):c.904G>T (p.Val302Phe) SNV Uncertain significance 183171 rs74703359 GRCh37: 2:233388180-233388180
GRCh38: 2:232523470-232523470
27 VSX2 NM_182894.3(VSX2):c.-43dup Duplication Uncertain significance 314191 rs557085907 GRCh37: 14:74706216-74706217
GRCh38: 14:74239513-74239514
28 VSX2 NM_182894.3(VSX2):c.863G>A (p.Arg288Gln) SNV Uncertain significance 314200 rs375426810 GRCh37: 14:74727399-74727399
GRCh38: 14:74260696-74260696
29 VSX2 NM_182894.3(VSX2):c.*1347G>A SNV Uncertain significance 314223 rs565380755 GRCh37: 14:74728969-74728969
GRCh38: 14:74262266-74262266
30 C1QTNF5 , MFRP NM_031433.4(MFRP):c.583G>A (p.Ala195Thr) SNV Uncertain significance 302968 rs886047833 GRCh37: 11:119216188-119216188
GRCh38: 11:119345478-119345478
31 C1QTNF5 , MFRP NM_031433.4(MFRP):c.1124+11C>G SNV Uncertain significance 68067 rs199473709 GRCh37: 11:119214515-119214515
GRCh38: 11:119343805-119343805
32 C1QTNF5 , MFRP NM_031433.4(MFRP):c.456G>C (p.Arg152Ser) SNV Uncertain significance 302971 rs756071297 GRCh37: 11:119216315-119216315
GRCh38: 11:119345605-119345605
33 C1QTNF5 , MFRP NM_031433.4(MFRP):c.303C>T (p.Ser101=) SNV Uncertain significance 302974 rs530322096 GRCh37: 11:119216607-119216607
GRCh38: 11:119345897-119345897
34 PRSS56 NM_001195129.2(PRSS56):c.1463G>A (p.Gly488Glu) SNV Uncertain significance 1055451 GRCh37: 2:233389496-233389496
GRCh38: 2:232524786-232524786
35 PRSS56 NM_001195129.2(PRSS56):c.1631C>T (p.Pro544Leu) SNV Uncertain significance 1057381 GRCh37: 2:233390035-233390035
GRCh38: 2:232525325-232525325
36 C1QTNF5 , MFRP NM_031433.4(MFRP):c.492C>T (p.Tyr164=) SNV Likely benign 143157 rs36015759 GRCh37: 11:119216279-119216279
GRCh38: 11:119345569-119345569
37 C1QTNF5 , MFRP NM_031433.4(MFRP):c.406G>A (p.Val136Met) SNV Likely benign 167299 rs3814762 GRCh37: 11:119216504-119216504
GRCh38: 11:119345794-119345794
38 C1QTNF5 , MFRP NM_031433.4(MFRP):c.-31G>A SNV Likely benign 302982 rs883247 GRCh37: 11:119217254-119217254
GRCh38: 11:119346544-119346544
39 C1QTNF5 , MFRP NM_031433.4(MFRP):c.*1690A>T SNV Likely benign 302922 rs9640 GRCh37: 11:119209979-119209979
GRCh38: 11:119339269-119339269
40 VSX2 NM_182894.3(VSX2):c.*1548_*1549del Deletion Likely benign 314228 rs10592020 GRCh37: 14:74729167-74729168
GRCh38: 14:74262464-74262465
41 C1QTNF5 , MFRP NM_031433.4(MFRP):c.1387+3G>A SNV Likely benign 261962 rs11217241 GRCh37: 11:119213303-119213303
GRCh38: 11:119342593-119342593
42 C1QTNF5 , MFRP NM_031433.4(MFRP):c.-88C>T SNV Likely benign 302987 rs883245 GRCh37: 11:119217311-119217311
GRCh38: 11:119346601-119346601
43 C1QTNF5 , MFRP NM_031433.4(MFRP):c.954G>A (p.Leu318=) SNV Likely benign 302959 rs35885438 GRCh37: 11:119215046-119215046
GRCh38: 11:119344336-119344336
44 PRSS56 NM_001195129.2(PRSS56):c.205+10C>G SNV Benign 707140 rs77311538 GRCh37: 2:233386148-233386148
GRCh38: 2:232521438-232521438
45 PRSS56 NM_001195129.2(PRSS56):c.1521+10C>T SNV Benign 707588 rs142661322 GRCh37: 2:233389564-233389564
GRCh38: 2:232524854-232524854
46 PRSS56 NM_001195129.2(PRSS56):c.600G>A (p.Pro200=) SNV Benign 767012 rs534508338 GRCh37: 2:233387465-233387465
GRCh38: 2:232522755-232522755
47 PRSS56 NM_001195129.2(PRSS56):c.1795C>G (p.Pro599Ala) SNV Benign 31078 rs61744404 GRCh37: 2:233390199-233390199
GRCh38: 2:232525489-232525489
48 C1QTNF5 , MFRP NM_031433.4(MFRP):c.540T>C (p.His180=) SNV Benign 167297 rs2510143 GRCh37: 11:119216231-119216231
GRCh38: 11:119345521-119345521

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

72
# 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 microvillus GO:0005902 9.26 RDX CRB1
2 cell periphery GO:0071944 9.16 RDX NOS1
3 apical plasma membrane GO:0016324 9.13 RDX MFRP CRB1
4 photoreceptor inner segment GO:0001917 8.62 NOS1 CRB1

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

# Name GO ID Score Top Affiliating Genes
1 retina development in camera-type eye GO:0060041 9.26 MFRP CRB1
2 detection of light stimulus involved in visual perception GO:0050908 9.16 CRB1 BEST1
3 eye photoreceptor cell development GO:0042462 8.96 MFRP CRB1
4 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
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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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