MCID: MCR211
MIFTS: 31

Microphthalmia, Isolated 6

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

Aliases & Classifications for Microphthalmia, Isolated 6

MalaCards integrated aliases for Microphthalmia, Isolated 6:

Name: Microphthalmia, Isolated 6 57 29 13 6 73
Mcop6 57 12 75
Autosomal Recessive Posterior Microphthalmos 75
Microphthalmia, Posterior Nonsyndromic 57
Posterior Non-Syndromic Microphthalmia 75
Posterior Nonsyndromic Microphthalmia 12
Microphthalmia, Isolated, Type 6 40
Microphthalmia, Isolated, 6 75
Isolated Microphthalmia 6 12

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
microphthalmia, isolated 6:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 613517
Disease Ontology 12 DOID:0060835
ICD10 33 Q11.0
MedGen 42 C3150757
MeSH 44 D008850
UMLS 73 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). (613517)

MalaCards based summary : Microphthalmia, Isolated 6, also known as mcop6, is related to nanophthalmos 2 and microphthalmia, isolated 5. An important gene associated with Microphthalmia, Isolated 6 is PRSS56 (Serine Protease 56). Affiliated tissues include eye, and related phenotypes are microcornea and microphthalmia

Disease Ontology : 12 A 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 : 75 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

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



Diseases related to Microphthalmia, Isolated 6

Symptoms & Phenotypes for Microphthalmia, Isolated 6

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
foreshortening of axial length of eyes (bilateral)
microcornea (in some patients)
high hyperopia
shallow anterior chamber and angle (in some patients)
elevated intraocular pressure (in some patients)
more

Clinical features from OMIM:

613517

Human phenotypes related to Microphthalmia, Isolated 6:

32
# Description HPO Frequency HPO Source Accession
1 microcornea 32 occasional (7.5%) HP:0000482
2 microphthalmia 32 HP:0000568
3 scleral thickening 32 HP:0030823

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-168 9.7 MFRP C1QTNF5
2 Increased shRNA abundance (Z-score > 2) GR00366-A-178 9.7 C1QTNF5 MFRP
3 Increased shRNA abundance (Z-score > 2) GR00366-A-190 9.7 C1QTNF5 MFRP
4 Increased shRNA abundance (Z-score > 2) GR00366-A-44 9.7 C1QTNF5 MFRP
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-145 9.61 C1QTNF5 MFRP
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-173 9.61 C1QTNF5 MFRP
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-26 9.61 C1QTNF5 MFRP VSX2
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-77 9.61 VSX2
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-91 9.61 VSX2

MGI Mouse Phenotypes related to Microphthalmia, Isolated 6:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 pigmentation MP:0001186 9.13 C1QTNF5 MFRP VSX2
2 vision/eye MP:0005391 8.92 C1QTNF5 MFRP PRSS56 VSX2

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:

41
Eye

Publications for Microphthalmia, Isolated 6

Articles related to Microphthalmia, Isolated 6:

# Title Authors Year
1
Autosomal-recessive posterior microphthalmos is caused by mutations in PRSS56, a gene encoding a trypsin-like serine protease. ( 21397065 )
2011

Variations for Microphthalmia, Isolated 6

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

75
# 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

ClinVar genetic disease variations for Microphthalmia, Isolated 6:

6
(show top 50) (show all 242)
# Gene Variation Type Significance SNP ID Assembly Location
1 PRSS56 NM_001195129.1(PRSS56): c.1066dupC (p.Gln356Profs) duplication Pathogenic rs730882064 GRCh38 Chromosome 2, 232523825: 232523825
2 PRSS56 NM_001195129.1(PRSS56): c.1066dupC (p.Gln356Profs) duplication Pathogenic rs730882064 GRCh37 Chromosome 2, 233388535: 233388535
3 PRSS56 NM_001195129.1(PRSS56): c.926G> C (p.Trp309Ser) single nucleotide variant Pathogenic rs387907095 GRCh37 Chromosome 2, 233388202: 233388202
4 PRSS56 NM_001195129.1(PRSS56): c.926G> C (p.Trp309Ser) single nucleotide variant Pathogenic rs387907095 GRCh38 Chromosome 2, 232523492: 232523492
5 PRSS56 NM_001195129.1(PRSS56): c.526C> G (p.Arg176Gly) single nucleotide variant Pathogenic rs387907096 GRCh37 Chromosome 2, 233387304: 233387304
6 PRSS56 NM_001195129.1(PRSS56): c.526C> G (p.Arg176Gly) single nucleotide variant Pathogenic rs387907096 GRCh38 Chromosome 2, 232522594: 232522594
7 C1QTNF5; MFRP NM_031433.3(MFRP): c.406G> A (p.Val136Met) single nucleotide variant Benign/Likely benign rs3814762 GRCh37 Chromosome 11, 119216504: 119216504
8 C1QTNF5; MFRP NM_031433.3(MFRP): c.406G> A (p.Val136Met) single nucleotide variant Benign/Likely benign rs3814762 GRCh38 Chromosome 11, 119345794: 119345794
9 C1QTNF5; MFRP NM_031433.3(MFRP): c.1014C> A (p.Ser338Arg) single nucleotide variant Uncertain significance rs145319149 GRCh37 Chromosome 11, 119214636: 119214636
10 C1QTNF5; MFRP NM_031433.3(MFRP): c.1014C> A (p.Ser338Arg) single nucleotide variant Uncertain significance rs145319149 GRCh38 Chromosome 11, 119343926: 119343926
11 C1QTNF5; MFRP NM_031433.3(MFRP): c.540T> C (p.His180=) single nucleotide variant Benign/Likely benign rs2510143 GRCh37 Chromosome 11, 119216231: 119216231
12 C1QTNF5; MFRP NM_031433.3(MFRP): c.540T> C (p.His180=) single nucleotide variant Benign/Likely benign rs2510143 GRCh38 Chromosome 11, 119345521: 119345521
13 VSX2 NM_182894.2(VSX2): c.471C> T (p.Ser157=) single nucleotide variant Benign rs35435463 GRCh37 Chromosome 14, 74711883: 74711883
14 VSX2 NM_182894.2(VSX2): c.471C> T (p.Ser157=) single nucleotide variant Benign rs35435463 GRCh38 Chromosome 14, 74245180: 74245180
15 PRSS56 NM_001195129.1(PRSS56): c.958G> A (p.Gly320Arg) single nucleotide variant Pathogenic rs730882158 GRCh37 Chromosome 2, 233388234: 233388234
16 PRSS56 NM_001195129.1(PRSS56): c.958G> A (p.Gly320Arg) single nucleotide variant Pathogenic rs730882158 GRCh38 Chromosome 2, 232523524: 232523524
17 PRSS56 NM_001195129.1(PRSS56): c.904G> T (p.Val302Phe) single nucleotide variant Pathogenic rs74703359 GRCh37 Chromosome 2, 233388180: 233388180
18 PRSS56 NM_001195129.1(PRSS56): c.904G> T (p.Val302Phe) single nucleotide variant Pathogenic rs74703359 GRCh38 Chromosome 2, 232523470: 232523470
19 PRSS56 NM_001195129.1(PRSS56): c.833dupG (p.Val279Argfs) duplication Pathogenic rs730882159 GRCh37 Chromosome 2, 233387896: 233387896
20 PRSS56 NM_001195129.1(PRSS56): c.833dupG (p.Val279Argfs) duplication Pathogenic rs730882159 GRCh38 Chromosome 2, 232523186: 232523186
21 PRSS56 NM_001195129.1(PRSS56): c.709G> A (p.Gly237Arg) single nucleotide variant Pathogenic rs730882160 GRCh37 Chromosome 2, 233387772: 233387772
22 PRSS56 NM_001195129.1(PRSS56): c.709G> A (p.Gly237Arg) single nucleotide variant Pathogenic rs730882160 GRCh38 Chromosome 2, 232523062: 232523062
23 PRSS56 NM_001195129.1(PRSS56): c.1183T> C (p.Cys395Arg) single nucleotide variant Pathogenic rs730882161 GRCh37 Chromosome 2, 233388652: 233388652
24 PRSS56 NM_001195129.1(PRSS56): c.1183T> C (p.Cys395Arg) single nucleotide variant Pathogenic rs730882161 GRCh38 Chromosome 2, 232523942: 232523942
25 PRSS56 NM_001195129.1(PRSS56): c.1555G> A (p.Gly519Arg) single nucleotide variant Pathogenic rs730882162 GRCh37 Chromosome 2, 233389959: 233389959
26 PRSS56 NM_001195129.1(PRSS56): c.1555G> A (p.Gly519Arg) single nucleotide variant Pathogenic rs730882162 GRCh38 Chromosome 2, 232525249: 232525249
27 VSX2 NM_182894.2(VSX2): c.871G> A (p.Asp291Asn) single nucleotide variant Benign/Likely benign rs75395981 GRCh37 Chromosome 14, 74727407: 74727407
28 VSX2 NM_182894.2(VSX2): c.871G> A (p.Asp291Asn) single nucleotide variant Benign/Likely benign rs75395981 GRCh38 Chromosome 14, 74260704: 74260704
29 VSX2 NM_182894.2(VSX2): c.831G> A (p.Leu277=) single nucleotide variant Benign/Likely benign rs62006815 GRCh37 Chromosome 14, 74727367: 74727367
30 VSX2 NM_182894.2(VSX2): c.831G> A (p.Leu277=) single nucleotide variant Benign/Likely benign rs62006815 GRCh38 Chromosome 14, 74260664: 74260664
31 C1QTNF5; MFRP NM_031433.3(MFRP): c.773-9C> T single nucleotide variant Conflicting interpretations of pathogenicity rs187321874 GRCh37 Chromosome 11, 119215476: 119215476
32 C1QTNF5; MFRP NM_031433.3(MFRP): c.773-9C> T single nucleotide variant Conflicting interpretations of pathogenicity rs187321874 GRCh38 Chromosome 11, 119344766: 119344766
33 C1QTNF5; MFRP NM_031433.3(MFRP): c.1387+3G> A single nucleotide variant Likely benign rs11217241 GRCh38 Chromosome 11, 119342593: 119342593
34 C1QTNF5; MFRP NM_031433.3(MFRP): c.1387+3G> A single nucleotide variant Likely benign rs11217241 GRCh37 Chromosome 11, 119213303: 119213303
35 VSX2 NM_182894.2(VSX2): c.244G> A (p.Gly82Arg) single nucleotide variant Uncertain significance rs375294678 GRCh37 Chromosome 14, 74706508: 74706508
36 VSX2 NM_182894.2(VSX2): c.244G> A (p.Gly82Arg) single nucleotide variant Uncertain significance rs375294678 GRCh38 Chromosome 14, 74239805: 74239805
37 C1QTNF5; MFRP NG_012235.1: g.6940C> T single nucleotide variant Uncertain significance rs138295825 GRCh37 Chromosome 11, 119215444: 119215444
38 C1QTNF5; MFRP NG_012235.1: g.6940C> T single nucleotide variant Uncertain significance rs138295825 GRCh38 Chromosome 11, 119344734: 119344734
39 C1QTNF5; MFRP NG_012235.1: g.12255T> C single nucleotide variant Uncertain significance rs779732274 GRCh37 Chromosome 11, 119210129: 119210129
40 C1QTNF5; MFRP NG_012235.1: g.12255T> C single nucleotide variant Uncertain significance rs779732274 GRCh38 Chromosome 11, 119339419: 119339419
41 C1QTNF5; MFRP NG_012235.1: g.12178C> T single nucleotide variant Uncertain significance rs371634525 GRCh37 Chromosome 11, 119210206: 119210206
42 C1QTNF5; MFRP NG_012235.1: g.12178C> T single nucleotide variant Uncertain significance rs371634525 GRCh38 Chromosome 11, 119339496: 119339496
43 C1QTNF5; MFRP NG_012235.1: g.10187G> T single nucleotide variant Uncertain significance rs752071088 GRCh37 Chromosome 11, 119212197: 119212197
44 C1QTNF5; MFRP NG_012235.1: g.10187G> T single nucleotide variant Uncertain significance rs752071088 GRCh38 Chromosome 11, 119341487: 119341487
45 C1QTNF5; MFRP NG_012235.1: g.9946G> C single nucleotide variant Uncertain significance rs886047829 GRCh37 Chromosome 11, 119212438: 119212438
46 C1QTNF5; MFRP NG_012235.1: g.9946G> C single nucleotide variant Uncertain significance rs886047829 GRCh38 Chromosome 11, 119341728: 119341728
47 C1QTNF5; MFRP NG_012235.1: g.9763C> A single nucleotide variant Uncertain significance rs202139926 GRCh37 Chromosome 11, 119212621: 119212621
48 C1QTNF5; MFRP NG_012235.1: g.9763C> A single nucleotide variant Uncertain significance rs202139926 GRCh38 Chromosome 11, 119341911: 119341911
49 C1QTNF5; MFRP NG_012235.1: g.7840C> T single nucleotide variant Uncertain significance rs886047831 GRCh37 Chromosome 11, 119214544: 119214544
50 C1QTNF5; MFRP NG_012235.1: g.7840C> T single nucleotide variant Uncertain significance rs886047831 GRCh38 Chromosome 11, 119343834: 119343834

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

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

# Name GO ID Score Top Affiliating Genes
1 visual perception GO:0007601 8.62 MFRP VSX2

Sources for Microphthalmia, Isolated 6

3 CDC
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74 UMLS via Orphanet
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