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MCOP5
MCID: MCR122
MIFTS: 31

Microphthalmia, Isolated 5 (MCOP5)

Categories: Eye diseases, Fetal diseases, Genetic diseases, Rare diseases
Genes Variations Tissues Related diseases Symptoms & Phenotypes
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Aliases & Classifications for Microphthalmia, Isolated 5

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MalaCards integrated aliases for Microphthalmia, Isolated 5:

Name: Microphthalmia, Isolated 5 57 29 13 6
Mcop5 57 12 75
Microphthalmia, Posterior, with Retinitis Pigmentosa, Foveoschisis, and Optic Disc Drusen 57 73
Microphthalmia-Retinitis Pigmentosa-Foveoschisis-Optic Disc Drusen Syndrome 12 59
Posterior Microphthalmia with Retinitis Pigmentosa, Foveoschisis and Optic Disc Drusen 12
Posterior Microphthalmia with Retinitis Pigmentosa, Foveoschisis and Optic Disk Drusen 75
Nanophtalmos-Retinitis Pigmentosa-Foveoschisis-Optic Disc Drusen Syndrome 59
Microphthalmia, Isolated, Type 5 40
Microphthalmia, Isolated, 5 75
Microphthalmia Mfrp-Related 75
Isolated Microphthalmia 5 12

Characteristics:

Orphanet epidemiological data:

59
microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult;

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
microphthalmia, isolated 5:
Inheritance autosomal recessive inheritance


Classifications:

MalaCards categories:
Global: Genetic diseases Fetal diseases Rare diseases
Anatomical: Eye diseases
See all MalaCards categories (disease lists)
ICD10: 33 34
Orphanet: 59  
Rare eye diseases
Developmental anomalies during embryogenesis


External Ids:

OMIM 57 611040
Disease Ontology 12 DOID:0060837
ICD10 33 Q15.8
Orphanet 59 ORPHA251279
UMLS via Orphanet 74 C1970236
ICD10 via Orphanet 34 Q15.8
MedGen 42 C1970236
MeSH 44 D008850
UMLS 73 C1970236
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Summaries for Microphthalmia, Isolated 5

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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 nanophthalmos 2 and microphthalmia, isolated 6. 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 : 75 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.

Description from OMIM: 611040
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Related Diseases for Microphthalmia, Isolated 5

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Diseases in the Microphthalmia, Isolated 5 family:

Microphthalmia, Isolated 1 Microphthalmia, Isolated 2
Microphthalmia, Isolated 3 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:

# Related Disease Score Top Affiliating Genes
1 nanophthalmos 2 9.8 C1QTNF5 MFRP
2 microphthalmia, isolated 6 9.8 C1QTNF5 MFRP
3 late-onset retinal degeneration 9.8 C1QTNF5 MFRP
4 retinal degeneration 9.8 C1QTNF5 MFRP
5 fundus dystrophy 9.7 C1QTNF5 MFRP

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



Diseases related to Microphthalmia, Isolated 5
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Symptoms & Phenotypes for Microphthalmia, Isolated 5

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Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
hypermetropia
decreased visual acuity
night blindness
photophobia (rare)
cystoid macular edema (in some patients)
more

Clinical features from OMIM:

611040

Human phenotypes related to Microphthalmia, Isolated 5:

32 (show all 15)
# Description HPO Frequency HPO Source Accession
1 cataract 32 occasional (7.5%) HP:0000518
2 photophobia 32 occasional (7.5%) HP:0000613
3 reduced visual acuity 32 HP:0007663
4 nyctalopia 32 HP:0000662
5 microphthalmia 32 HP:0000568
6 rod-cone dystrophy 32 HP:0000510
7 abnormality of skin pigmentation 32 HP:0001000
8 hypermetropia 32 HP:0000540
9 cystoid macular edema 32 occasional (7.5%) HP:0011505
10 bone spicule pigmentation of the retina 32 HP:0007737
11 scleral thickening 32 HP:0030823
12 foveoschisis 32 HP:0012152
13 retinal pigment epithelial atrophy 32 HP:0007722
14 abnormal light- and dark-adapted electroretinogram 32 HP:0008323
15 optic disc drusen 32 HP:0012426

GenomeRNAi Phenotypes related to Microphthalmia, Isolated 5 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 9.91 C1QTNF5 MFRP
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-173 9.91 C1QTNF5 MFRP
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-26 9.91 C1QTNF5 MFRP
4 Increased shRNA abundance (Z-score > 2) GR00366-A-168 9.83 C1QTNF5 MFRP
5 Increased shRNA abundance (Z-score > 2) GR00366-A-178 9.83 C1QTNF5 MFRP
6 Increased shRNA abundance (Z-score > 2) GR00366-A-190 9.83 C1QTNF5 MFRP
7 Increased shRNA abundance (Z-score > 2) GR00366-A-44 9.83 C1QTNF5 MFRP

MGI Mouse Phenotypes related to Microphthalmia, Isolated 5:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 pigmentation MP:0001186 8.62 C1QTNF5 MFRP
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Drugs & Therapeutics for Microphthalmia, Isolated 5

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

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Genetic Tests for Microphthalmia, Isolated 5

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Genetic tests related to Microphthalmia, Isolated 5:

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

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MalaCards organs/tissues related to Microphthalmia, Isolated 5:

41
Eye, Retina, Bone, Skin
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Publications for Microphthalmia, Isolated 5

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Variations for Microphthalmia, Isolated 5

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ClinVar genetic disease variations for Microphthalmia, Isolated 5:

6 (show all 36)
# Gene Variation Type Significance SNP ID Assembly Location
1 MFRP NM_031433.3(MFRP): c.1150dupC (p.His384Profs) duplication Pathogenic rs587776595 GRCh37 Chromosome 11, 119213688: 119213688
2 MFRP NM_031433.3(MFRP): c.1150dupC (p.His384Profs) duplication Pathogenic rs587776595 GRCh38 Chromosome 11, 119342978: 119342978
3 MFRP NM_031433.3(MFRP): c.523C> T (p.Gln175Ter) single nucleotide variant Pathogenic rs121908189 GRCh37 Chromosome 11, 119216248: 119216248
4 MFRP NM_031433.3(MFRP): c.523C> T (p.Gln175Ter) single nucleotide variant Pathogenic rs121908189 GRCh38 Chromosome 11, 119345538: 119345538
5 MFRP NM_031433.3(MFRP): c.498delC (p.Asn167Thrfs) deletion Pathogenic rs587776596 GRCh37 Chromosome 11, 119216273: 119216273
6 MFRP NM_031433.3(MFRP): c.498delC (p.Asn167Thrfs) deletion Pathogenic rs587776596 GRCh38 Chromosome 11, 119345563: 119345563
7 MFRP NM_031433.3(MFRP): c.498dupC (p.Asn167Glnfs) duplication Pathogenic rs606231145 GRCh38 Chromosome 11, 119345563: 119345563
8 MFRP NM_031433.3(MFRP): c.498dupC (p.Asn167Glnfs) duplication Pathogenic rs606231145 GRCh37 Chromosome 11, 119216273: 119216273
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 MFRP NM_031433.3(MFRP): c.951C> A (p.Tyr317Ter) single nucleotide variant Pathogenic rs730882141 GRCh37 Chromosome 11, 119215049: 119215049
12 MFRP NM_031433.3(MFRP): c.951C> A (p.Tyr317Ter) single nucleotide variant Pathogenic rs730882141 GRCh38 Chromosome 11, 119344339: 119344339
13 MFRP NM_031433.3(MFRP): c.1622_1625delTCTG (p.Val541Alafs) deletion Pathogenic rs730882142 GRCh37 Chromosome 11, 119212373: 119212376
14 MFRP NM_031433.3(MFRP): c.1622_1625delTCTG (p.Val541Alafs) deletion Pathogenic rs730882142 GRCh38 Chromosome 11, 119341663: 119341666
15 MFRP NM_031433.3(MFRP): c.201G> A (p.Trp67Ter) single nucleotide variant Pathogenic rs150232843 GRCh37 Chromosome 11, 119216826: 119216826
16 MFRP NM_031433.3(MFRP): c.201G> A (p.Trp67Ter) single nucleotide variant Pathogenic rs150232843 GRCh38 Chromosome 11, 119346116: 119346116
17 MFRP NM_031433.3(MFRP): c.491_492insT (p.Asn167Glnfs) insertion Pathogenic rs730882143 GRCh37 Chromosome 11, 119216279: 119216280
18 MFRP NM_031433.3(MFRP): c.491_492insT (p.Asn167Glnfs) insertion Pathogenic rs730882143 GRCh38 Chromosome 11, 119345569: 119345570
19 MFRP NM_031433.3(MFRP): c.1549C> T (p.Arg517Trp) single nucleotide variant Pathogenic rs730882144 GRCh37 Chromosome 11, 119212449: 119212449
20 MFRP NM_031433.3(MFRP): c.1549C> T (p.Arg517Trp) single nucleotide variant Pathogenic rs730882144 GRCh38 Chromosome 11, 119341739: 119341739
21 C1QTNF5; MFRP NM_015645.4(C1QTNF5): c.-1867G> A single nucleotide variant Benign/Likely benign rs61736238 GRCh37 Chromosome 11, 119215586: 119215586
22 C1QTNF5; MFRP NM_015645.4(C1QTNF5): c.-1867G> A single nucleotide variant Benign/Likely benign rs61736238 GRCh38 Chromosome 11, 119344876: 119344876
23 MFRP NM_031433.3(MFRP): c.958C> T (p.Gln320Ter) single nucleotide variant Pathogenic rs797045054 GRCh37 Chromosome 11, 119215042: 119215042
24 MFRP NM_031433.3(MFRP): c.958C> T (p.Gln320Ter) single nucleotide variant Pathogenic rs797045054 GRCh38 Chromosome 11, 119344332: 119344332
25 C1QTNF5; MFRP NG_012235.1: g.5548G> A single nucleotide variant Conflicting interpretations of pathogenicity rs149376662 GRCh37 Chromosome 11, 119216836: 119216836
26 C1QTNF5; MFRP NG_012235.1: g.5548G> A single nucleotide variant Conflicting interpretations of pathogenicity rs149376662 GRCh38 Chromosome 11, 119346126: 119346126
27 MFRP NM_031433.3(MFRP): c.397G> T (p.Glu133Ter) single nucleotide variant Pathogenic rs770341402 GRCh38 Chromosome 11, 119345803: 119345803
28 MFRP NM_031433.3(MFRP): c.397G> T (p.Glu133Ter) single nucleotide variant Pathogenic rs770341402 GRCh37 Chromosome 11, 119216513: 119216513
29 MFRP NM_031433.3(MFRP): c.899-2A> G single nucleotide variant Likely pathogenic GRCh37 Chromosome 11, 119215103: 119215103
30 MFRP NM_031433.3(MFRP): c.899-2A> G single nucleotide variant Likely pathogenic GRCh38 Chromosome 11, 119344393: 119344393
31 MFRP NM_031433.3(MFRP): c.104dup (p.Pro36Serfs) duplication Likely pathogenic GRCh38 Chromosome 11, 119346325: 119346325
32 MFRP NM_031433.3(MFRP): c.104dup (p.Pro36Serfs) duplication Likely pathogenic GRCh37 Chromosome 11, 119217035: 119217035
33 MFRP NM_031433.3(MFRP): c.1148C> G (p.Pro383Arg) single nucleotide variant Uncertain significance rs758398734 GRCh37 Chromosome 11, 119213690: 119213690
34 MFRP NM_031433.3(MFRP): c.1148C> G (p.Pro383Arg) single nucleotide variant Uncertain significance rs758398734 GRCh38 Chromosome 11, 119342980: 119342980
35 MFRP NM_031433.3(MFRP): c.629delG (p.Gly210Alafs) deletion Pathogenic GRCh37 Chromosome 11, 119216142: 119216142
36 MFRP NM_031433.3(MFRP): c.629delG (p.Gly210Alafs) deletion Pathogenic GRCh38 Chromosome 11, 119345432: 119345432
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Expression for Microphthalmia, Isolated 5

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

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GO Terms for Microphthalmia, Isolated 5

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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 8.62 C1QTNF5 MFRP
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Sources for Microphthalmia, Isolated 5

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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