MCID: MCR122
MIFTS: 31

Microphthalmia, Isolated 5

Categories: Genetic diseases, Eye diseases, Fetal 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 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:



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

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 visual impairment and rod-cone dystrophy

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

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

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 16)
# Description HPO Frequency HPO Source Accession
1 visual impairment 32 HP:0000505
2 rod-cone dystrophy 32 HP:0000510
3 cataract 32 occasional (7.5%) HP:0000518
4 hypermetropia 32 HP:0000540
5 microphthalmia 32 HP:0000568
6 photophobia 32 occasional (7.5%) HP:0000613
7 nyctalopia 32 HP:0000662
8 abnormality of skin pigmentation 32 HP:0001000
9 reduced visual acuity 32 HP:0007663
10 retinal pigment epithelial atrophy 32 HP:0007722
11 bone spicule pigmentation of the retina 32 HP:0007737
12 abnormal light- and dark-adapted electroretinogram 32 HP:0008323
13 cystoid macular edema 32 occasional (7.5%) HP:0011505
14 foveoschisis 32 HP:0012152
15 optic disc drusen 32 HP:0012426
16 scleral thickening 32 HP:0030823

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 MFRP C1QTNF5
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 MFRP C1QTNF5
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

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

Variations for Microphthalmia, Isolated 5

ClinVar genetic disease variations for Microphthalmia, Isolated 5:

6
(show all 30)
# 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 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 C1QTNF5; MFRP NM_015645.4(C1QTNF5): c.-1867G> A single nucleotide variant Benign/Likely benign rs61736238 GRCh37 Chromosome 11, 119215586: 119215586
20 C1QTNF5; MFRP NM_015645.4(C1QTNF5): c.-1867G> A single nucleotide variant Benign/Likely benign rs61736238 GRCh38 Chromosome 11, 119344876: 119344876
21 MFRP NM_031433.3(MFRP): c.958C> T (p.Gln320Ter) single nucleotide variant Pathogenic rs797045054 GRCh37 Chromosome 11, 119215042: 119215042
22 MFRP NM_031433.3(MFRP): c.958C> T (p.Gln320Ter) single nucleotide variant Pathogenic rs797045054 GRCh38 Chromosome 11, 119344332: 119344332
23 C1QTNF5; MFRP NG_012235.1: g.5548G> A single nucleotide variant Conflicting interpretations of pathogenicity rs149376662 GRCh37 Chromosome 11, 119216836: 119216836
24 C1QTNF5; MFRP NG_012235.1: g.5548G> A single nucleotide variant Conflicting interpretations of pathogenicity rs149376662 GRCh38 Chromosome 11, 119346126: 119346126
25 MFRP NM_031433.3(MFRP): c.397G> T (p.Glu133Ter) single nucleotide variant Pathogenic rs770341402 GRCh38 Chromosome 11, 119345803: 119345803
26 MFRP NM_031433.3(MFRP): c.397G> T (p.Glu133Ter) single nucleotide variant Pathogenic rs770341402 GRCh37 Chromosome 11, 119216513: 119216513
27 MFRP NM_031433.3(MFRP): c.899-2A> G single nucleotide variant Likely pathogenic GRCh37 Chromosome 11, 119215103: 119215103
28 MFRP NM_031433.3(MFRP): c.899-2A> G single nucleotide variant Likely pathogenic GRCh38 Chromosome 11, 119344393: 119344393
29 MFRP NM_031433.3(MFRP): c.104dup (p.Pro36Serfs) duplication Likely pathogenic GRCh38 Chromosome 11, 119346325: 119346325
30 MFRP NM_031433.3(MFRP): c.104dup (p.Pro36Serfs) duplication Likely pathogenic GRCh37 Chromosome 11, 119217035: 119217035

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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69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
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74 UMLS via Orphanet
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