MCOP5
MCID: MCR122
MIFTS: 39

Microphthalmia, Isolated 5 (MCOP5)

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

Aliases & Classifications for Microphthalmia, Isolated 5

MalaCards integrated aliases for Microphthalmia, Isolated 5:

Name: Microphthalmia, Isolated 5 56 29 13 6
Mcop5 56 12 73
Microphthalmia, Posterior, with Retinitis Pigmentosa, Foveoschisis, and Optic Disc Drusen 56 71
Microphthalmia-Retinitis Pigmentosa-Foveoschisis-Optic Disc Drusen Syndrome 12 58
Isolated Microphthalmia 5 12 15
Posterior Microphthalmia with Retinitis Pigmentosa, Foveoschisis and Optic Disc Drusen 12
Posterior Microphthalmia with Retinitis Pigmentosa, Foveoschisis and Optic Disk Drusen 73
Nanophthalmos-Retinitis Pigmentosa-Foveoschisis-Optic Disc Drusen Syndrome 58
Microphthalmia, Isolated, Type 5 39
Microphthalmia, Isolated, 5 73
Microphthalmia Mfrp-Related 73

Characteristics:

Orphanet epidemiological data:

58
microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult;

OMIM:

56
Inheritance:
autosomal recessive


HPO:

31
microphthalmia, isolated 5:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare eye diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:0060837
OMIM 56 611040
OMIM Phenotypic Series 56 PS251600
MeSH 43 D008850
ICD10 32 Q15.8
ICD10 via Orphanet 33 Q15.8
UMLS via Orphanet 72 C1970236
Orphanet 58 ORPHA251279
MedGen 41 C1970236
UMLS 71 C1970236

Summaries for Microphthalmia, Isolated 5

Disease Ontology : 12 An isolated microphthalmia characterized by autosomal recessive inheritance of posterior microphthalmia, hypermetropia, night blindness, decreased visual acuity, reduced macular reflex, scleral thickening, impared rod and cone responses on ERG, foveoschisis and in some patients retinal pigment epithelium atrophy, arteriolar attenuation, angle-closure glaucoma and optic disc drusen that has material basis in homozygous or compound heterozygous mutation in the MFRP gene on chromosome 11q23.

MalaCards based summary : Microphthalmia, Isolated 5, also known as mcop5, is related to nanophthalmos and retinitis pigmentosa. An important gene associated with Microphthalmia, Isolated 5 is MFRP (Membrane Frizzled-Related Protein). Affiliated tissues include eye, retina and bone, and related phenotypes are cataract and photophobia

UniProtKB/Swiss-Prot : 73 Microphthalmia, isolated, 5: A disorder characterized by posterior microphthalmia, retinitis pigmentosa, foveoschisis and optic disk drusen. Microphthalmia is a disorder of eye formation, ranging from small size of a single eye to complete bilateral absence of ocular tissues. Ocular abnormalities like opacities of the cornea and lens, scaring of the retina and choroid, and other abnormalities may also be present.

More information from OMIM: 611040 PS251600

Related Diseases for Microphthalmia, Isolated 5

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 5 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 31)
# Related Disease Score Top Affiliating Genes
1 nanophthalmos 30.4 MFRP CUBN C1QTNF5
2 retinitis pigmentosa 10.7
3 neuroretinitis 10.7
4 optic disk drusen 10.7
5 retinitis 10.7
6 nanophthalmos 2 10.2 MFRP C1QTNF5
7 microphthalmia, isolated 6 10.2 MFRP C1QTNF5
8 partial third-nerve palsy 10.1 TUBB2B KIF21A
9 late-onset retinal degeneration 10.0 MFRP C1QTNF5
10 marcus gunn phenomenon 10.0 PHOX2A KIF21A
11 myotonic cataract 10.0 PHOX2A KIF21A
12 fibrosis of extraocular muscles, congenital, 2 10.0 PHOX2A KIF21A
13 hypotropia 10.0 PHOX2A KIF21A
14 hypertropia 10.0 PHOX2A KIF21A
15 orbital disease 10.0 PHOX2A KIF21A
16 exotropia 10.0 PHOX2A KIF21A
17 duane-radial ray syndrome 10.0 PHOX2A KIF21A
18 congenital ptosis 9.9 PHOX2A KIF21A
19 esotropia 9.9 PHOX2A KIF21A
20 amblyopia 9.9 PHOX2A KIF21A
21 cranial nerve disease 9.8 PHOX2A KIF21A
22 paralytic squint 9.7 TUBB2B PHOX2A KIF21A
23 ocular motility disease 9.7 TUBB2B PHOX2A KIF21A
24 tukel syndrome 9.7 TUBB2B PHOX2A KIF21A
25 duane retraction syndrome 9.7 TUBB2B PHOX2A KIF21A
26 keratitis, hereditary 9.7 PHOX2A KIF21A
27 strabismus 9.6 TUBB2B PHOX2A KIF21A
28 vitamin metabolic disorder 9.6 MTHFR CUBN
29 vitamin b12 deficiency 9.5 MTHFR CUBN
30 megaloblastic anemia 9.4 MTHFR CUBN
31 colorectal adenoma 9.4 MTHFR GREM1

Graphical network of the top 20 diseases related to Microphthalmia, Isolated 5:



Diseases related to Microphthalmia, Isolated 5

Symptoms & Phenotypes for Microphthalmia, Isolated 5

Human phenotypes related to Microphthalmia, Isolated 5:

31 (show all 15)
# Description HPO Frequency HPO Source Accession
1 cataract 31 occasional (7.5%) HP:0000518
2 photophobia 31 occasional (7.5%) HP:0000613
3 cystoid macular edema 31 occasional (7.5%) HP:0011505
4 abnormality of skin pigmentation 31 HP:0001000
5 microphthalmia 31 HP:0000568
6 reduced visual acuity 31 HP:0007663
7 nyctalopia 31 HP:0000662
8 rod-cone dystrophy 31 HP:0000510
9 hypermetropia 31 HP:0000540
10 retinal pigment epithelial atrophy 31 HP:0007722
11 bone spicule pigmentation of the retina 31 HP:0007737
12 scleral thickening 31 HP:0030823
13 abnormal light- and dark-adapted electroretinogram 31 HP:0008323
14 optic disc drusen 31 HP:0012426
15 foveoschisis 31 HP:0012152

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Eyes:
hypermetropia
scleral thickening
foveoschisis
decreased visual acuity
night blindness
more

Clinical features from OMIM:

611040

GenomeRNAi Phenotypes related to Microphthalmia, Isolated 5 according to GeneCards Suite gene sharing:

26 (show all 12)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-145 9.53 C1QTNF5 MFRP
2 Increased shRNA abundance (Z-score > 2) GR00366-A-168 9.53 C1QTNF5 MFRP
3 Increased shRNA abundance (Z-score > 2) GR00366-A-173 9.53 C1QTNF5 MFRP MTHFR
4 Increased shRNA abundance (Z-score > 2) GR00366-A-180 9.53 MTHFR
5 Increased shRNA abundance (Z-score > 2) GR00366-A-190 9.53 C1QTNF5 MFRP
6 Increased shRNA abundance (Z-score > 2) GR00366-A-214 9.53 MTHFR
7 Increased shRNA abundance (Z-score > 2) GR00366-A-44 9.53 C1QTNF5 MFRP
8 Increased shRNA abundance (Z-score > 2) GR00366-A-46 9.53 MTHFR
9 Increased shRNA abundance (Z-score > 2) GR00366-A-6 9.53 MTHFR
10 Increased shRNA abundance (Z-score > 2) GR00366-A-76 9.53 MTHFR
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-178 9.26 C1QTNF5 MFRP
12 Decreased shRNA abundance (Z-score < -2) GR00366-A-26 9.26 C1QTNF5 MFRP

MGI Mouse Phenotypes related to Microphthalmia, Isolated 5:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 9.5 C1QTNF5 CUBN GREM1 KIF21A MTHFR PHOX2A
2 nervous system MP:0003631 9.17 C1QTNF5 GREM1 KIF21A MFRP MTHFR PHOX2A

Drugs & Therapeutics for Microphthalmia, Isolated 5

Search Clinical Trials , NIH Clinical Center for Microphthalmia, Isolated 5

Genetic Tests for Microphthalmia, Isolated 5

Genetic tests related to Microphthalmia, Isolated 5:

# Genetic test Affiliating Genes
1 Microphthalmia, Isolated 5 29 MFRP

Anatomical Context for Microphthalmia, Isolated 5

MalaCards organs/tissues related to Microphthalmia, Isolated 5:

40
Eye, Retina, Bone, Skin

Publications for Microphthalmia, Isolated 5

Articles related to Microphthalmia, Isolated 5:

# Title Authors PMID Year
1
Mutations in TULP1, NR2E3, and MFRP genes in Indian families with autosomal recessive retinitis pigmentosa. 56 6
22605927 2012
2
Posterior microphthalmos as a genetically heterogeneous condition that can be allelic to nanophthalmos. 6 56
21670352 2011
3
A detailed phenotypic assessment of individuals affected by MFRP-related oculopathy. 56 6
20361016 2010
4
Compound heterozygosity for a novel and a recurrent MFRP gene mutation in a family with the nanophthalmos-retinitis pigmentosa complex. 6 56
19753314 2009
5
A novel mutation confirms MFRP as the gene causing the syndrome of nanophthalmos-renititis pigmentosa-foveoschisis-optic disk drusen. 56 6
18554571 2008
6
A new autosomal recessive syndrome consisting of posterior microphthalmos, retinitis pigmentosa, foveoschisis, and optic disc drusen is caused by a MFRP gene mutation. 6 56
17167404 2006
7
Biometric and molecular characterization of clinically diagnosed posterior microphthalmos. 56
23127749 2013
8
Extreme hyperopia is the result of null mutations in MFRP, which encodes a Frizzled-related protein. 6
15976030 2005
9
Familial nanophthalmos. 6
1258954 1976
10
Nanophthalmos-Retinitis Pigmentosa-Foveoschisis-Optic Disc Drusen Syndrome (MFRP). 61
31047555 2018

Variations for Microphthalmia, Isolated 5

ClinVar genetic disease variations for Microphthalmia, Isolated 5:

6 (show top 50) (show all 139) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 MFRP NM_031433.4(MFRP):c.987G>A (p.Trp329Ter)SNV Pathogenic 834143 11:119214663-119214663 11:119343953-119343953
2 MFRP NM_031433.4(MFRP):c.397G>T (p.Glu133Ter)SNV Pathogenic 468921 rs770341402 11:119216513-119216513 11:119345803-119345803
3 MFRP NM_031433.4(MFRP):c.629del (p.Gly210fs)deletion Pathogenic 571158 rs1565295426 11:119216142-119216142 11:119345432-119345432
4 MFRP NM_031433.4(MFRP):c.1250del (p.Thr417fs)deletion Pathogenic 915296 11:119213588-119213588 11:119342878-119342878
5 MFRP NM_031433.4(MFRP):c.1150dup (p.His384fs)duplication Pathogenic 4474 rs587776595 11:119213687-119213688 11:119342977-119342978
6 MFRP NM_031433.4(MFRP):c.498del (p.Asn167fs)deletion Pathogenic 4476 rs587776596 11:119216273-119216273 11:119345563-119345563
7 MFRP NM_031433.4(MFRP):c.498dup (p.Asn167fs)duplication Pathogenic 4478 rs587776596 11:119216272-119216273 11:119345562-119345563
8 MFRP NM_031433.4(MFRP):c.951C>A (p.Tyr317Ter)SNV Pathogenic 183043 rs730882141 11:119215049-119215049 11:119344339-119344339
9 MFRP NM_031433.4(MFRP):c.1618_1621TCTG[1] (p.Val541fs)short repeat Pathogenic 183044 rs730882142 11:119212373-119212376 11:119341663-119341666
10 MFRP NM_031433.4(MFRP):c.201G>A (p.Trp67Ter)SNV Pathogenic 183045 rs150232843 11:119216826-119216826 11:119346116-119346116
11 MFRP NM_031433.4(MFRP):c.1549C>T (p.Arg517Trp)SNV Pathogenic 183047 rs730882144 11:119212449-119212449 11:119341739-119341739
12 MFRP NM_031433.4(MFRP):c.958C>T (p.Gln320Ter)SNV Pathogenic 209172 rs797045054 11:119215042-119215042 11:119344332-119344332
13 MFRP NM_031433.4(MFRP):c.491_492insT (p.Asn167fs)insertion Pathogenic/Likely pathogenic 183046 rs730882143 11:119216279-119216280 11:119345569-119345570
14 MFRP NM_031433.4(MFRP):c.1615C>T (p.Arg539Cys)SNV Likely pathogenic 560469 rs374823079 11:119212383-119212383 11:119341673-119341673
15 MFRP NM_031433.4(MFRP):c.899-2A>GSNV Likely pathogenic 488460 rs1245503127 11:119215103-119215103 11:119344393-119344393
16 MFRP NM_031433.4(MFRP):c.104dup (p.Pro36fs)duplication Likely pathogenic 488459 rs749156010 11:119217034-119217035 11:119346324-119346325
17 MFRP NM_031433.4(MFRP):c.641+1G>ASNV Likely pathogenic 842991 11:119216129-119216129 11:119345419-119345419
18 C1QTNF5 , MFRP NM_031433.4(MFRP):c.642-2A>GSNV Conflicting interpretations of pathogenicity 497208 rs376898612 11:119215716-119215716 11:119345006-119345006
19 C1QTNF5 , MFRP NM_031433.4(MFRP):c.1124+1G>TSNV Conflicting interpretations of pathogenicity 631652 rs145719998 11:119214525-119214525 11:119343815-119343815
20 C1QTNF5 , MFRP NM_031433.4(MFRP):c.629G>T (p.Gly210Val)SNV Conflicting interpretations of pathogenicity 167296 rs150902999 11:119216142-119216142 11:119345432-119345432
21 C1QTNF5 , MFRP NM_031433.4(MFRP):c.*1190C>TSNV Conflicting interpretations of pathogenicity 194544 rs540768941 11:119210479-119210479 11:119339769-119339769
22 C1QTNF5 , MFRP NM_031433.4(MFRP):c.160C>G (p.Arg54Gly)SNV Conflicting interpretations of pathogenicity 196562 rs139436396 11:119216867-119216867 11:119346157-119346157
23 MFRP NM_031433.4(MFRP):c.1256-4G>ASNV Conflicting interpretations of pathogenicity 193935 rs142533439 11:119213441-119213441 11:119342731-119342731
24 C1QTNF5 , MFRP NM_031433.4(MFRP):c.773-9C>TSNV Conflicting interpretations of pathogenicity 198596 rs187321874 11:119215476-119215476 11:119344766-119344766
25 C1QTNF5 , MFRP NM_031433.4(MFRP):c.195C>T (p.Phe65=)SNV Conflicting interpretations of pathogenicity 302976 rs138913508 11:119216832-119216832 11:119346122-119346122
26 C1QTNF5 , MFRP NM_031433.4(MFRP):c.*483T>CSNV Conflicting interpretations of pathogenicity 302941 rs147285871 11:119211775-119211775 11:119341065-119341065
27 C1QTNF5 , MFRP NM_031433.4(MFRP):c.773-8A>CSNV Conflicting interpretations of pathogenicity 302966 rs143891457 11:119215475-119215475 11:119344765-119344765
28 C1QTNF5 , MFRP NM_031433.4(MFRP):c.*1237G>ASNV Conflicting interpretations of pathogenicity 302928 rs148291350 11:119210432-119210432 11:119339722-119339722
29 C1QTNF5 , MFRP NM_031433.4(MFRP):c.807G>A (p.Gln269=)SNV Conflicting interpretations of pathogenicity 302964 rs371537663 11:119215433-119215433 11:119344723-119344723
30 C1QTNF5 , MFRP NM_031433.4(MFRP):c.192C>G (p.Arg64=)SNV Conflicting interpretations of pathogenicity 302977 rs200143181 11:119216835-119216835 11:119346125-119346125
31 C1QTNF5 , MFRP NM_031433.4(MFRP):c.1110+9G>ASNV Conflicting interpretations of pathogenicity 302930 rs771777653 11:119210885-119210885 11:119340175-119340175
32 C1QTNF5 , MFRP NM_031433.4(MFRP):c.191G>A (p.Arg64His)SNV Conflicting interpretations of pathogenicity 302978 rs149376662 11:119216836-119216836 11:119346126-119346126
33 C1QTNF5 , MFRP NM_031433.4(MFRP):c.1014C>A (p.Ser338Arg)SNV Conflicting interpretations of pathogenicity 167294 rs145319149 11:119214636-119214636 11:119343926-119343926
34 C1QTNF5 , MFRP NM_031433.4(MFRP):c.-49G>ASNV Conflicting interpretations of pathogenicity 302984 rs201954533 11:119217272-119217272 11:119346562-119346562
35 C1QTNF5 , MFRP NM_031433.4(MFRP):c.190C>T (p.Arg64Cys)SNV Uncertain significance 302979 rs147490836 11:119216837-119216837 11:119346127-119346127
36 C1QTNF5 , MFRP NM_031433.4(MFRP):c.63C>A (p.Phe21Leu)SNV Uncertain significance 302980 rs868687394 11:119217076-119217076 11:119346366-119346366
37 C1QTNF5 , MFRP NM_031433.4(MFRP):c.58G>A (p.Glu20Lys)SNV Uncertain significance 302981 rs529716845 11:119217081-119217081 11:119346371-119346371
38 C1QTNF5 , MFRP NM_031433.4(MFRP):c.*895C>TSNV Uncertain significance 302933 rs751853220 11:119211109-119211109 11:119340399-119340399
39 C1QTNF5 , MFRP NM_031433.4(MFRP):c.*652G>ASNV Uncertain significance 302940 rs886047824 11:119211606-119211606 11:119340896-119340896
40 C1QTNF5 , MFRP NM_031433.4(MFRP):c.*126G>CSNV Uncertain significance 302946 rs886047827 11:119212132-119212132 11:119341422-119341422
41 C1QTNF5 , MFRP NM_031433.4(MFRP):c.1475T>A (p.Ile492Asn)SNV Uncertain significance 302952 rs886047830 11:119212607-119212607 11:119341897-119341897
42 C1QTNF5 , MFRP NM_031433.4(MFRP):c.975+10G>ASNV Uncertain significance 302957 rs886047832 11:119215015-119215015 11:119344305-119344305
43 C1QTNF5 , MFRP NM_031433.4(MFRP):c.583G>A (p.Ala195Thr)SNV Uncertain significance 302968 rs886047833 11:119216188-119216188 11:119345478-119345478
44 C1QTNF5 , MFRP NM_031433.4(MFRP):c.505C>T (p.His169Tyr)SNV Uncertain significance 302969 rs886047834 11:119216266-119216266 11:119345556-119345556
45 C1QTNF5 , MFRP NM_031433.4(MFRP):c.*1879C>TSNV Uncertain significance 302920 rs886047816 11:119209790-119209790 11:119339080-119339080
46 C1QTNF5 , MFRP NM_031433.4(MFRP):c.*1311G>ASNV Uncertain significance 302926 rs368962202 11:119210358-119210358 11:119339648-119339648
47 C1QTNF5 , MFRP NM_031433.4(MFRP):c.*1140C>ASNV Uncertain significance 302929 rs886047818 11:119210529-119210529 11:119339819-119339819
48 C1QTNF5 , MFRP NM_031433.4(MFRP):c.786T>A (p.His262Gln)SNV Uncertain significance 302965 rs751729583 11:119215454-119215454 11:119344744-119344744
49 C1QTNF5 , MFRP NM_031433.4(MFRP):c.456G>C (p.Arg152Ser)SNV Uncertain significance 302971 rs756071297 11:119216315-119216315 11:119345605-119345605
50 C1QTNF5 , MFRP NM_031433.4(MFRP):c.271+10C>TSNV Uncertain significance 302975 rs554865241 11:119216746-119216746 11:119346036-119346036

Expression for Microphthalmia, Isolated 5

Search GEO for disease gene expression data for Microphthalmia, Isolated 5.

Pathways for Microphthalmia, Isolated 5

GO Terms for Microphthalmia, Isolated 5

Cellular components related to Microphthalmia, Isolated 5 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 apical plasma membrane GO:0016324 8.8 MFRP CUBN C1QTNF5

Sources for Microphthalmia, Isolated 5

3 CDC
7 CNVD
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68 SNOMED-CT via HPO
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