MCOP5
MCID: MCR122
MIFTS: 37

Microphthalmia, Isolated 5 (MCOP5)

Categories: Eye diseases, Fetal diseases, Genetic 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 A 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 retinitis pigmentosa and neuroretinitis. 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 Microphthalmia, Isolated 2 family:

Microphthalmia, Isolated 1 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 30)
# Related Disease Score Top Affiliating Genes
1 retinitis pigmentosa 10.7
2 neuroretinitis 10.7
3 microphthalmia 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 10.1 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 9.9 PHOX2A KIF21A
17 duane-radial ray syndrome 9.9 PHOX2A KIF21A
18 congenital ptosis 9.9 PHOX2A KIF21A
19 amblyopia 9.8 PHOX2A KIF21A
20 cranial nerve disease 9.7 PHOX2A KIF21A
21 paralytic squint 9.7 TUBB2B PHOX2A KIF21A
22 esotropia 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 strabismus 9.6 TUBB2B PHOX2A KIF21A
27 vitamin metabolic disorder 9.6 MTHFR CUBN
28 vitamin b12 deficiency 9.5 MTHFR CUBN
29 colorectal adenoma 9.4 MTHFR GREM1
30 megaloblastic anemia 9.3 MTHFR CUBN

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 rod-cone dystrophy 31 HP:0000510
5 nyctalopia 31 HP:0000662
6 abnormality of skin pigmentation 31 HP:0001000
7 reduced visual acuity 31 HP:0007663
8 microphthalmia 31 HP:0000568
9 hypermetropia 31 HP:0000540
10 scleral thickening 31 HP:0030823
11 abnormal light- and dark-adapted electroretinogram 31 HP:0008323
12 bone spicule pigmentation of the retina 31 HP:0007737
13 retinal pigment epithelial atrophy 31 HP:0007722
14 foveoschisis 31 HP:0012152
15 optic disc drusen 31 HP:0012426

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 13)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-168 9.83 C1QTNF5 MFRP
2 Increased shRNA abundance (Z-score > 2) GR00366-A-173 9.83 C1QTNF5 MFRP MTHFR
3 Increased shRNA abundance (Z-score > 2) GR00366-A-178 9.83 C1QTNF5 MFRP
4 Increased shRNA abundance (Z-score > 2) GR00366-A-180 9.83 MTHFR
5 Increased shRNA abundance (Z-score > 2) GR00366-A-190 9.83 C1QTNF5 MFRP
6 Increased shRNA abundance (Z-score > 2) GR00366-A-214 9.83 MTHFR
7 Increased shRNA abundance (Z-score > 2) GR00366-A-26 9.83 C1QTNF5 MFRP
8 Increased shRNA abundance (Z-score > 2) GR00366-A-44 9.83 C1QTNF5 MFRP
9 Increased shRNA abundance (Z-score > 2) GR00366-A-46 9.83 MTHFR
10 Increased shRNA abundance (Z-score > 2) GR00366-A-6 9.83 MTHFR
11 Increased shRNA abundance (Z-score > 2) GR00366-A-63 9.83 MTHFR
12 Increased shRNA abundance (Z-score > 2) GR00366-A-76 9.83 MTHFR
13 Increased shRNA abundance (Z-score > 2) GR00366-A-77 9.83 MTHFR

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. 56 6
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. 56 6
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. 56 6
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 all 19) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 MFRP NM_031433.4(MFRP):c.951C>A (p.Tyr317Ter)SNV Pathogenic 183043 rs730882141 11:119215049-119215049 11:119344339-119344339
2 MFRP NM_031433.4(MFRP):c.1618_1621TCTG[1] (p.Val541fs)short repeat Pathogenic 183044 rs730882142 11:119212373-119212376 11:119341663-119341666
3 MFRP NM_031433.4(MFRP):c.201G>A (p.Trp67Ter)SNV Pathogenic 183045 rs150232843 11:119216826-119216826 11:119346116-119346116
4 MFRP NM_031433.4(MFRP):c.958C>T (p.Gln320Ter)SNV Pathogenic 209172 rs797045054 11:119215042-119215042 11:119344332-119344332
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.397G>T (p.Glu133Ter)SNV Pathogenic 468921 rs770341402 11:119216513-119216513 11:119345803-119345803
9 MFRP NM_031433.4(MFRP):c.1549C>T (p.Arg517Trp)SNV Pathogenic 183047 rs730882144 11:119212449-119212449 11:119341739-119341739
10 MFRP NM_031433.4(MFRP):c.629del (p.Gly210fs)deletion Pathogenic 571158 rs1565295426 11:119216142-119216142 11:119345432-119345432
11 MFRP NM_031433.4(MFRP):c.491_492insT (p.Asn167fs)insertion Pathogenic/Likely pathogenic 183046 rs730882143 11:119216279-119216280 11:119345569-119345570
12 MFRP NM_031433.4(MFRP):c.899-2A>GSNV Likely pathogenic 488460 rs1245503127 11:119215103-119215103 11:119344393-119344393
13 MFRP NM_031433.4(MFRP):c.104dup (p.Pro36fs)duplication Likely pathogenic 488459 rs749156010 11:119217034-119217035 11:119346324-119346325
14 C1QTNF5 , MFRP NM_031433.4(MFRP):c.642-2A>GSNV Conflicting interpretations of pathogenicity 497208 rs376898612 11:119215716-119215716 11:119345006-119345006
15 C1QTNF5 , MFRP NM_031433.4(MFRP):c.191G>A (p.Arg64His)SNV Conflicting interpretations of pathogenicity 302978 rs149376662 11:119216836-119216836 11:119346126-119346126
16 MFRP NM_031433.4(MFRP):c.1148C>G (p.Pro383Arg)SNV Uncertain significance 569324 rs758398734 11:119213690-119213690 11:119342980-119342980
17 C1QTNF5 , MFRP NM_031433.4(MFRP):c.1014C>A (p.Ser338Arg)SNV Uncertain significance 167294 rs145319149 11:119214636-119214636 11:119343926-119343926
18 MFRP NM_031433.4(MFRP):c.746G>A (p.Trp249Ter)SNV Uncertain significance 191026 rs786205471 11:119215610-119215610 11:119344900-119344900
19 C1QTNF5 , MFRP NM_031433.4(MFRP):c.770G>A (p.Arg257His)SNV Benign/Likely benign 198271 rs61736238 11:119215586-119215586 11:119344876-119344876

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
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
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