Microphthalmia, Isolated 5 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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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:

MalaCards categories:
Global: Genetic diseases Fetal diseases Rare diseases
Anatomical: Eye diseases

See all MalaCards categories (disease lists)

ICD10: ³³ ³⁴

Congenital malformations, deformations and chromosomal abnormalities

Congenital malformations of eye, ear, face and neck

Other congenital malformations of eye

Other specified congenital malformations of eye

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

SNOMED-CT via HPO ⁶⁹ 258211005 246635007 397540003 more

UMLS ⁷³ C1970236

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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

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Related Diseases for Microphthalmia, Isolated 5

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	9.5	C1QTNF5 MFRP
2	microphthalmia, isolated 6	9.4	C1QTNF5 MFRP
3	late-onset retinal degeneration	9.3	C1QTNF5 MFRP
4	retinal degeneration	9.2	C1QTNF5 MFRP
5	fundus dystrophy	9.0	C1QTNF5 MFRP

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

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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

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Drugs & Therapeutics for Microphthalmia, Isolated 5

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

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Genetic Tests for Microphthalmia, Isolated 5

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

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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Genes for Microphthalmia, Isolated 5

Genes related to Microphthalmia, Isolated 5 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	MFRP	Membrane Frizzled-Related Protein	Protein Coding	1378.38	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation (loss of function) ⁵⁹ Genetic Tests ²⁹ GeneCards inferred via : Disorders Variants (show sections)
2	C1QTNF5	C1q And TNF Related 5	Protein Coding	18.8	GeneCards inferred via : Variants (show sections)

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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

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Expression for Microphthalmia, Isolated 5

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

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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