MCOP5
MCID: MCR122
MIFTS: 33

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 58 30 13 6
Mcop5 58 12 76
Microphthalmia, Posterior, with Retinitis Pigmentosa, Foveoschisis, and Optic Disc Drusen 58 74
Microphthalmia-Retinitis Pigmentosa-Foveoschisis-Optic Disc Drusen Syndrome 12 60
Posterior Microphthalmia with Retinitis Pigmentosa, Foveoschisis and Optic Disc Drusen 12
Posterior Microphthalmia with Retinitis Pigmentosa, Foveoschisis and Optic Disk Drusen 76
Nanophtalmos-Retinitis Pigmentosa-Foveoschisis-Optic Disc Drusen Syndrome 60
Microphthalmia, Isolated, Type 5 41
Microphthalmia, Isolated, 5 76
Microphthalmia Mfrp-Related 76
Isolated Microphthalmia 5 12

Characteristics:

Orphanet epidemiological data:

60
microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult;

OMIM:

58
Inheritance:
autosomal recessive


HPO:

33
microphthalmia, isolated 5:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0060837
OMIM 58 611040
MeSH 45 D008850
ICD10 34 Q15.8
ICD10 via Orphanet 35 Q15.8
UMLS via Orphanet 75 C1970236
Orphanet 60 ORPHA251279
MedGen 43 C1970236
UMLS 74 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 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 : 76 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

Related Diseases for Microphthalmia, Isolated 5

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:

33 (show all 15)
# Description HPO Frequency HPO Source Accession
1 cataract 33 occasional (7.5%) HP:0000518
2 photophobia 33 occasional (7.5%) HP:0000613
3 cystoid macular edema 33 occasional (7.5%) HP:0011505
4 reduced visual acuity 33 HP:0007663
5 nyctalopia 33 HP:0000662
6 microphthalmia 33 HP:0000568
7 rod-cone dystrophy 33 HP:0000510
8 abnormality of skin pigmentation 33 HP:0001000
9 hypermetropia 33 HP:0000540
10 bone spicule pigmentation of the retina 33 HP:0007737
11 scleral thickening 33 HP:0030823
12 foveoschisis 33 HP:0012152
13 retinal pigment epithelial atrophy 33 HP:0007722
14 abnormal light- and dark-adapted electroretinogram 33 HP:0008323
15 optic disc drusen 33 HP:0012426

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
hypermetropia
decreased visual acuity
night blindness
photophobia (rare)
cataract (rare)
more

Clinical features from OMIM:

611040

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

27
# 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:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 pigmentation MP:0001186 8.62 C1QTNF5 MFRP

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 30 MFRP

Anatomical Context for Microphthalmia, Isolated 5

MalaCards organs/tissues related to Microphthalmia, Isolated 5:

42
Eye, Retina, Bone, Skin

Publications for Microphthalmia, Isolated 5

Articles related to Microphthalmia, Isolated 5:

# Title Authors Year
1
Mutations in TULP1, NR2E3, and MFRP genes in Indian families with autosomal recessive retinitis pigmentosa. ( 22605927 )
2012
2
Posterior microphthalmos as a genetically heterogeneous condition that can be allelic to nanophthalmos. ( 21670352 )
2011
3
A detailed phenotypic assessment of individuals affected by MFRP-related oculopathy. ( 20361016 )
2010
4
Compound heterozygosity for a novel and a recurrent MFRP gene mutation in a family with the nanophthalmos-retinitis pigmentosa complex. ( 19753314 )
2009
5
A novel mutation confirms MFRP as the gene causing the syndrome of nanophthalmos-renititis pigmentosa-foveoschisis-optic disk drusen. ( 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. ( 17167404 )
2006
7
Extreme hyperopia is the result of null mutations in MFRP, which encodes a Frizzled-related protein. ( 15976030 )
2005
8
Familial nanophthalmos. ( 1258954 )
1976

Variations for Microphthalmia, Isolated 5

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.498delC (p.Asn167Thrfs) deletion Pathogenic rs587776596 GRCh37 Chromosome 11, 119216273: 119216273
4 MFRP NM_031433.3(MFRP): c.498delC (p.Asn167Thrfs) deletion Pathogenic rs587776596 GRCh38 Chromosome 11, 119345563: 119345563
5 MFRP NM_031433.3(MFRP): c.498dupC (p.Asn167Glnfs) duplication Pathogenic rs587776596 GRCh38 Chromosome 11, 119345563: 119345563
6 MFRP NM_031433.3(MFRP): c.498dupC (p.Asn167Glnfs) duplication Pathogenic rs587776596 GRCh37 Chromosome 11, 119216273: 119216273
7 C1QTNF5; MFRP NM_031433.3(MFRP): c.1014C> A (p.Ser338Arg) single nucleotide variant Uncertain significance rs145319149 GRCh37 Chromosome 11, 119214636: 119214636
8 C1QTNF5; MFRP NM_031433.3(MFRP): c.1014C> A (p.Ser338Arg) single nucleotide variant Uncertain significance rs145319149 GRCh38 Chromosome 11, 119343926: 119343926
9 MFRP NM_031433.3(MFRP): c.951C> A (p.Tyr317Ter) single nucleotide variant Pathogenic rs730882141 GRCh37 Chromosome 11, 119215049: 119215049
10 MFRP NM_031433.3(MFRP): c.951C> A (p.Tyr317Ter) single nucleotide variant Pathogenic rs730882141 GRCh38 Chromosome 11, 119344339: 119344339
11 MFRP NM_031433.3(MFRP): c.1622_1625delTCTG (p.Val541Alafs) deletion Pathogenic rs730882142 GRCh37 Chromosome 11, 119212373: 119212376
12 MFRP NM_031433.3(MFRP): c.1622_1625delTCTG (p.Val541Alafs) deletion Pathogenic rs730882142 GRCh38 Chromosome 11, 119341663: 119341666
13 MFRP NM_031433.3(MFRP): c.201G> A (p.Trp67Ter) single nucleotide variant Pathogenic rs150232843 GRCh37 Chromosome 11, 119216826: 119216826
14 MFRP NM_031433.3(MFRP): c.201G> A (p.Trp67Ter) single nucleotide variant Pathogenic rs150232843 GRCh38 Chromosome 11, 119346116: 119346116
15 MFRP NM_031433.3(MFRP): c.491_492insT (p.Asn167Glnfs) insertion Pathogenic rs730882143 GRCh37 Chromosome 11, 119216279: 119216280
16 MFRP NM_031433.3(MFRP): c.491_492insT (p.Asn167Glnfs) insertion Pathogenic rs730882143 GRCh38 Chromosome 11, 119345569: 119345570
17 MFRP NM_031433.3(MFRP): c.1549C> T (p.Arg517Trp) single nucleotide variant Pathogenic rs730882144 GRCh37 Chromosome 11, 119212449: 119212449
18 MFRP NM_031433.3(MFRP): c.1549C> T (p.Arg517Trp) single nucleotide variant Pathogenic rs730882144 GRCh38 Chromosome 11, 119341739: 119341739
19 MFRP NM_031433.4(MFRP): c.746G> A (p.Trp249Ter) single nucleotide variant Uncertain significance rs786205471 GRCh38 Chromosome 11, 119344900: 119344900
20 MFRP NM_031433.4(MFRP): c.746G> A (p.Trp249Ter) single nucleotide variant Uncertain significance rs786205471 GRCh37 Chromosome 11, 119215610: 119215610
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 rs1245503127 GRCh38 Chromosome 11, 119344393: 119344393
30 MFRP NM_031433.3(MFRP): c.899-2A> G single nucleotide variant Likely pathogenic rs1245503127 GRCh37 Chromosome 11, 119215103: 119215103
31 MFRP NM_031433.3(MFRP): c.104dup (p.Pro36Serfs) duplication Likely pathogenic rs749156010 GRCh38 Chromosome 11, 119346325: 119346325
32 MFRP NM_031433.3(MFRP): c.104dup (p.Pro36Serfs) duplication Likely pathogenic rs749156010 GRCh37 Chromosome 11, 119217035: 119217035
33 MFRP NM_031433.3(MFRP): c.1148C> G (p.Pro383Arg) single nucleotide variant Uncertain significance GRCh37 Chromosome 11, 119213690: 119213690
34 MFRP NM_031433.3(MFRP): c.1148C> G (p.Pro383Arg) single nucleotide variant Uncertain significance 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

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 8.62 C1QTNF5 MFRP

Sources for Microphthalmia, Isolated 5

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75 UMLS via Orphanet
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