MCOP5
MCID: MCR122
MIFTS: 34

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 57 29 13 6
Mcop5 57 12 74
Microphthalmia, Posterior, with Retinitis Pigmentosa, Foveoschisis, and Optic Disc Drusen 57 72
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 74
Nanophtalmos-Retinitis Pigmentosa-Foveoschisis-Optic Disc Drusen Syndrome 59
Microphthalmia, Isolated, Type 5 40
Microphthalmia, Isolated, 5 74
Microphthalmia Mfrp-Related 74
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:



External Ids:

Disease Ontology 12 DOID:0060837
MeSH 44 D008850
ICD10 33 Q15.8
ICD10 via Orphanet 34 Q15.8
UMLS via Orphanet 73 C1970236
Orphanet 59 ORPHA251279
MedGen 42 C1970236
UMLS 72 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 : 74 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 1 family:

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:

# Related Disease Score Top Affiliating Genes
1 nanophthalmos 2 9.6 MFRP C1QTNF5
2 microphthalmia, isolated 6 9.5 MFRP C1QTNF5
3 late-onset retinal degeneration 9.5 MFRP C1QTNF5
4 retinal degeneration 9.4 MFRP C1QTNF5
5 fundus dystrophy 9.2 MFRP C1QTNF5

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:

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

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
hypermetropia
scleral thickening
foveoschisis
decreased visual acuity
night blindness
more

Clinical features from OMIM:

611040

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

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:

41
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. 8 71
22605927 2012
2
Posterior microphthalmos as a genetically heterogeneous condition that can be allelic to nanophthalmos. 8 71
21670352 2011
3
A detailed phenotypic assessment of individuals affected by MFRP-related oculopathy. 8 71
20361016 2010
4
Compound heterozygosity for a novel and a recurrent MFRP gene mutation in a family with the nanophthalmos-retinitis pigmentosa complex. 8 71
19753314 2009
5
A novel mutation confirms MFRP as the gene causing the syndrome of nanophthalmos-renititis pigmentosa-foveoschisis-optic disk drusen. 8 71
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. 8 71
17167404 2006
7
Biometric and molecular characterization of clinically diagnosed posterior microphthalmos. 8
23127749 2013
8
Extreme hyperopia is the result of null mutations in MFRP, which encodes a Frizzled-related protein. 71
15976030 2005
9
Familial nanophthalmos. 71
1258954 1976

Variations for Microphthalmia, Isolated 5

ClinVar genetic disease variations for Microphthalmia, Isolated 5:

6 (show all 19)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 MFRP NM_031433.4(MFRP): c.397G> T (p.Glu133Ter) single nucleotide variant Pathogenic rs770341402 11:119216513-119216513 11:119345803-119345803
2 MFRP NM_031433.4(MFRP): c.1150dup (p.His384fs) duplication Pathogenic rs587776595 11:119213688-119213688 11:119342978-119342978
3 MFRP NM_031433.4(MFRP): c.498del (p.Asn167fs) deletion Pathogenic rs587776596 11:119216273-119216273 11:119345563-119345563
4 MFRP NM_031433.4(MFRP): c.498dup (p.Asn167fs) duplication Pathogenic rs587776596 11:119216273-119216273 11:119345563-119345563
5 MFRP NM_031433.4(MFRP): c.951C> A (p.Tyr317Ter) single nucleotide variant Pathogenic rs730882141 11:119215049-119215049 11:119344339-119344339
6 MFRP NM_031433.4(MFRP): c.1618_1621TCTG[1] (p.Val541fs) short repeat Pathogenic rs730882142 11:119212373-119212376 11:119341663-119341666
7 MFRP NM_031433.4(MFRP): c.201G> A (p.Trp67Ter) single nucleotide variant Pathogenic rs150232843 11:119216826-119216826 11:119346116-119346116
8 MFRP NM_031433.4(MFRP): c.1549C> T (p.Arg517Trp) single nucleotide variant Pathogenic rs730882144 11:119212449-119212449 11:119341739-119341739
9 MFRP NM_031433.4(MFRP): c.958C> T (p.Gln320Ter) single nucleotide variant Pathogenic rs797045054 11:119215042-119215042 11:119344332-119344332
10 MFRP NM_031433.4(MFRP): c.629del (p.Gly210fs) deletion Pathogenic 11:119216142-119216142 11:119345432-119345432
11 MFRP NM_031433.4(MFRP): c.491_492insT (p.Asn167fs) insertion Pathogenic/Likely pathogenic rs730882143 11:119216279-119216280 11:119345569-119345570
12 MFRP NM_031433.4(MFRP): c.899-2A> G single nucleotide variant Likely pathogenic rs1245503127 11:119215103-119215103 11:119344393-119344393
13 MFRP NM_031433.4(MFRP): c.104dup (p.Pro36fs) duplication Likely pathogenic rs749156010 11:119217035-119217035 11:119346325-119346325
14 C1QTNF5 ; MFRP NM_015645.5(C1QTNF5): c.-1995-2A> G single nucleotide variant Conflicting interpretations of pathogenicity rs376898612 11:119215716-119215716 11:119345006-119345006
15 C1QTNF5 ; MFRP NM_031433.4(MFRP): c.191G> A (p.Arg64His) single nucleotide variant Conflicting interpretations of pathogenicity rs149376662 11:119216836-119216836 11:119346126-119346126
16 MFRP NM_031433.4(MFRP): c.1148C> G (p.Pro383Arg) single nucleotide variant Uncertain significance 11:119213690-119213690 11:119342980-119342980
17 MFRP NM_031433.4(MFRP): c.746G> A (p.Trp249Ter) single nucleotide variant Uncertain significance rs786205471 11:119215610-119215610 11:119344900-119344900
18 C1QTNF5 ; MFRP NM_031433.4(MFRP): c.1014C> A (p.Ser338Arg) single nucleotide variant Uncertain significance rs145319149 11:119214636-119214636 11:119343926-119343926
19 C1QTNF5 ; MFRP NM_031433.4(MFRP): c.770G> A (p.Arg257His) single nucleotide variant Benign/Likely benign 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 8.62 MFRP 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 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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