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

MCOP5 MCID: MCR122 MIFTS: 39	Microphthalmia, Isolated 5 (MCOP5) Categories: Eye diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Expand all tables

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Aliases & Classifications for Microphthalmia, Isolated 5

MalaCards integrated aliases for Microphthalmia, Isolated 5:

Name: Microphthalmia, Isolated 5 ⁵⁶ ²⁹ ¹³ ⁶

Mcop5 ⁵⁶ ¹² ⁷³

Microphthalmia, Posterior, with Retinitis Pigmentosa, Foveoschisis, and Optic Disc Drusen ⁵⁶ ⁷¹

Microphthalmia-Retinitis Pigmentosa-Foveoschisis-Optic Disc Drusen Syndrome ¹² ⁵⁸

Isolated Microphthalmia 5 ¹² ¹⁵

Posterior Microphthalmia with Retinitis Pigmentosa, Foveoschisis and Optic Disc Drusen ¹²

Posterior Microphthalmia with Retinitis Pigmentosa, Foveoschisis and Optic Disk Drusen ⁷³

Nanophthalmos-Retinitis Pigmentosa-Foveoschisis-Optic Disc Drusen Syndrome ⁵⁸

Microphthalmia, Isolated, Type 5 ³⁹

Microphthalmia, Isolated, 5 ⁷³

Microphthalmia Mfrp-Related ⁷³

Characteristics:

Orphanet epidemiological data:

⁵⁸

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

OMIM:

⁵⁶

Inheritance:
autosomal recessive

HPO:

³¹

microphthalmia, isolated 5:
Inheritance autosomal recessive inheritance

Classifications:

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

See all MalaCards categories (disease lists)

ICD10: ³² ³³

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: ⁵⁸

Rare eye diseases

Developmental anomalies during embryogenesis

External Ids:

Disease Ontology ¹² DOID:0060837

OMIM ⁵⁶ 611040

OMIM Phenotypic Series ⁵⁶ PS251600

MeSH ⁴³ D008850

ICD10 ³² Q15.8

ICD10 via Orphanet ³³ Q15.8

UMLS via Orphanet ⁷² C1970236

Orphanet ⁵⁸ ORPHA251279

MedGen ⁴¹ C1970236

SNOMED-CT via HPO ⁶⁸ 128306009 13164000 193387007 more

UMLS ⁷¹ C1970236

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Summaries for Microphthalmia, Isolated 5

Disease Ontology : ¹² An isolated 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 and retinitis pigmentosa. 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 : ⁷³ 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

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Related Diseases for Microphthalmia, Isolated 5

Diseases in the Isolated Microphthalmia family:

Microphthalmia, Isolated 1	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:

(show all 31)

#	Related Disease	Score	Top Affiliating Genes
1	nanophthalmos	30.4	MFRP CUBN C1QTNF5
2	retinitis pigmentosa	10.7
3	neuroretinitis	10.7
4	optic disk drusen	10.7
5	retinitis	10.7
6	nanophthalmos 2	10.2	MFRP C1QTNF5
7	microphthalmia, isolated 6	10.2	MFRP C1QTNF5
8	partial third-nerve palsy	10.1	TUBB2B KIF21A
9	late-onset retinal degeneration	10.0	MFRP C1QTNF5
10	marcus gunn phenomenon	10.0	PHOX2A KIF21A
11	myotonic cataract	10.0	PHOX2A KIF21A
12	fibrosis of extraocular muscles, congenital, 2	10.0	PHOX2A KIF21A
13	hypotropia	10.0	PHOX2A KIF21A
14	hypertropia	10.0	PHOX2A KIF21A
15	orbital disease	10.0	PHOX2A KIF21A
16	exotropia	10.0	PHOX2A KIF21A
17	duane-radial ray syndrome	10.0	PHOX2A KIF21A
18	congenital ptosis	9.9	PHOX2A KIF21A
19	esotropia	9.9	PHOX2A KIF21A
20	amblyopia	9.9	PHOX2A KIF21A
21	cranial nerve disease	9.8	PHOX2A KIF21A
22	paralytic squint	9.7	TUBB2B PHOX2A KIF21A
23	ocular motility disease	9.7	TUBB2B PHOX2A KIF21A
24	tukel syndrome	9.7	TUBB2B PHOX2A KIF21A
25	duane retraction syndrome	9.7	TUBB2B PHOX2A KIF21A
26	keratitis, hereditary	9.7	PHOX2A KIF21A
27	strabismus	9.6	TUBB2B PHOX2A KIF21A
28	vitamin metabolic disorder	9.6	MTHFR CUBN
29	vitamin b12 deficiency	9.5	MTHFR CUBN
30	megaloblastic anemia	9.4	MTHFR CUBN
31	colorectal adenoma	9.4	MTHFR GREM1

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

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Symptoms & Phenotypes for Microphthalmia, Isolated 5

Human phenotypes related to Microphthalmia, Isolated 5:

³¹ (show all 15)

#	Description	HPO Frequency	HPO Source Accession
1	cataract ³¹	occasional (7.5%)	HP:0000518
2	photophobia ³¹	occasional (7.5%)	HP:0000613
3	cystoid macular edema ³¹	occasional (7.5%)	HP:0011505
4	abnormality of skin pigmentation ³¹		HP:0001000
5	microphthalmia ³¹		HP:0000568
6	reduced visual acuity ³¹		HP:0007663
7	nyctalopia ³¹		HP:0000662
8	rod-cone dystrophy ³¹		HP:0000510
9	hypermetropia ³¹		HP:0000540
10	retinal pigment epithelial atrophy ³¹		HP:0007722
11	bone spicule pigmentation of the retina ³¹		HP:0007737
12	scleral thickening ³¹		HP:0030823
13	abnormal light- and dark-adapted electroretinogram ³¹		HP:0008323
14	optic disc drusen ³¹		HP:0012426
15	foveoschisis ³¹		HP:0012152

Symptoms via clinical synopsis from OMIM:

⁵⁶

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

Clinical features from OMIM:

611040

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

²⁶ (show all 12)

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	Increased shRNA abundance (Z-score > 2)	GR00366-A-145	9.53	C1QTNF5 MFRP
2	Increased shRNA abundance (Z-score > 2)	GR00366-A-168	9.53	C1QTNF5 MFRP
3	Increased shRNA abundance (Z-score > 2)	GR00366-A-173	9.53	C1QTNF5 MFRP MTHFR
4	Increased shRNA abundance (Z-score > 2)	GR00366-A-180	9.53	MTHFR
5	Increased shRNA abundance (Z-score > 2)	GR00366-A-190	9.53	C1QTNF5 MFRP
6	Increased shRNA abundance (Z-score > 2)	GR00366-A-214	9.53	MTHFR
7	Increased shRNA abundance (Z-score > 2)	GR00366-A-44	9.53	C1QTNF5 MFRP
8	Increased shRNA abundance (Z-score > 2)	GR00366-A-46	9.53	MTHFR
9	Increased shRNA abundance (Z-score > 2)	GR00366-A-6	9.53	MTHFR
10	Increased shRNA abundance (Z-score > 2)	GR00366-A-76	9.53	MTHFR
11	Decreased shRNA abundance (Z-score < -2)	GR00366-A-178	9.26	C1QTNF5 MFRP
12	Decreased shRNA abundance (Z-score < -2)	GR00366-A-26	9.26	C1QTNF5 MFRP

MGI Mouse Phenotypes related to Microphthalmia, Isolated 5:

⁴⁵

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	growth/size/body region	MP:0005378	9.5	C1QTNF5 CUBN GREM1 KIF21A MTHFR PHOX2A
2	nervous system	MP:0003631	9.17	C1QTNF5 GREM1 KIF21A MFRP MTHFR PHOX2A

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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:

⁴⁰

Eye, Retina, Bone, Skin

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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. ⁵⁶ ⁶	Kannabiran C...Mohan G	22605927	2012
2	Posterior microphthalmos as a genetically heterogeneous condition that can be allelic to nanophthalmos. ⁶ ⁵⁶	Aldahmesh MA...Alkuraya FS	21670352	2011
3	A detailed phenotypic assessment of individuals affected by MFRP-related oculopathy. ⁵⁶ ⁶	Mukhopadhyay R...Webster AR	20361016	2010
4	Compound heterozygosity for a novel and a recurrent MFRP gene mutation in a family with the nanophthalmos-retinitis pigmentosa complex. ⁶ ⁵⁶	Zenteno JC...Quiroz-Reyes MA	19753314	2009
5	A novel mutation confirms MFRP as the gene causing the syndrome of nanophthalmos-renititis pigmentosa-foveoschisis-optic disk drusen. ⁵⁶ ⁶	Crespi J...Zenteno JC	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. ⁶ ⁵⁶	Ayala-Ramirez R...Zenteno JC	17167404	2006
7	Biometric and molecular characterization of clinically diagnosed posterior microphthalmos. ⁵⁶	Nowilaty SR...Alkuraya FS	23127749	2013
8	Extreme hyperopia is the result of null mutations in MFRP, which encodes a Frizzled-related protein. ⁶	Sundin OH...Weinberg EM	15976030	2005
9	Familial nanophthalmos. ⁶	Cross HE...Yoder F	1258954	1976
10	Nanophthalmos-Retinitis Pigmentosa-Foveoschisis-Optic Disc Drusen Syndrome (MFRP). ⁶¹	Weng CY...Barnett D	31047555	2018

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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	1369.71	Molecular basis known ⁵⁶ Pathogenic ⁶ Causative germline mutation (loss of function) ⁵⁸ Genetic Tests ²⁹ GeneCards inferred via : Disorders Variants (show sections)	15976030 1258954 18554571 (more) 17167404 20361016 19753314 22605927 21670352
2	C1QTNF5	C1q And TNF Related 5	Protein Coding	9.72	GeneCards inferred via : Variants (show sections)
3	KIF21A	Kinesin Family Member 21A	Protein Coding	6.63	DISEASES inferred ¹⁵
4	TUBB2B	Tubulin Beta 2B Class IIb	Protein Coding	6.62	DISEASES inferred ¹⁵
5	PHOX2A	Paired Like Homeobox 2A	Protein Coding	6.57	DISEASES inferred ¹⁵
6	MTHFR	Methylenetetrahydrofolate Reductase	Protein Coding	4.9	DISEASES inferred ¹⁵
7	CUBN	Cubilin	Protein Coding	4.65	DISEASES inferred ¹⁵
8	GREM1	Gremlin 1, DAN Family BMP Antagonist	Protein Coding	4.29	DISEASES inferred ¹⁵

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Variations for Microphthalmia, Isolated 5

ClinVar genetic disease variations for Microphthalmia, Isolated 5:

⁶ (show top 50) (show all 139) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	MFRP	NM_031433.4(MFRP):c.987G>A (p.Trp329Ter)	SNV	Pathogenic	834143		11:119214663-119214663	11:119343953-119343953
2	MFRP	NM_031433.4(MFRP):c.397G>T (p.Glu133Ter)	SNV	Pathogenic	468921	rs770341402	11:119216513-119216513	11:119345803-119345803
3	MFRP	NM_031433.4(MFRP):c.629del (p.Gly210fs)	deletion	Pathogenic	571158	rs1565295426	11:119216142-119216142	11:119345432-119345432
4	MFRP	NM_031433.4(MFRP):c.1250del (p.Thr417fs)	deletion	Pathogenic	915296		11:119213588-119213588	11:119342878-119342878
5	MFRP	NM_031433.4(MFRP):c.1150dup (p.His384fs)	duplication	Pathogenic	4474	rs587776595	11:119213687-119213688	11:119342977-119342978
6	MFRP	NM_031433.4(MFRP):c.498del (p.Asn167fs)	deletion	Pathogenic	4476	rs587776596	11:119216273-119216273	11:119345563-119345563
7	MFRP	NM_031433.4(MFRP):c.498dup (p.Asn167fs)	duplication	Pathogenic	4478	rs587776596	11:119216272-119216273	11:119345562-119345563
8	MFRP	NM_031433.4(MFRP):c.951C>A (p.Tyr317Ter)	SNV	Pathogenic	183043	rs730882141	11:119215049-119215049	11:119344339-119344339
9	MFRP	NM_031433.4(MFRP):c.1618_1621TCTG[1] (p.Val541fs)	short repeat	Pathogenic	183044	rs730882142	11:119212373-119212376	11:119341663-119341666
10	MFRP	NM_031433.4(MFRP):c.201G>A (p.Trp67Ter)	SNV	Pathogenic	183045	rs150232843	11:119216826-119216826	11:119346116-119346116
11	MFRP	NM_031433.4(MFRP):c.1549C>T (p.Arg517Trp)	SNV	Pathogenic	183047	rs730882144	11:119212449-119212449	11:119341739-119341739
12	MFRP	NM_031433.4(MFRP):c.958C>T (p.Gln320Ter)	SNV	Pathogenic	209172	rs797045054	11:119215042-119215042	11:119344332-119344332
13	MFRP	NM_031433.4(MFRP):c.491_492insT (p.Asn167fs)	insertion	Pathogenic/Likely pathogenic	183046	rs730882143	11:119216279-119216280	11:119345569-119345570
14	MFRP	NM_031433.4(MFRP):c.1615C>T (p.Arg539Cys)	SNV	Likely pathogenic	560469	rs374823079	11:119212383-119212383	11:119341673-119341673
15	MFRP	NM_031433.4(MFRP):c.899-2A>G	SNV	Likely pathogenic	488460	rs1245503127	11:119215103-119215103	11:119344393-119344393
16	MFRP	NM_031433.4(MFRP):c.104dup (p.Pro36fs)	duplication	Likely pathogenic	488459	rs749156010	11:119217034-119217035	11:119346324-119346325
17	MFRP	NM_031433.4(MFRP):c.641+1G>A	SNV	Likely pathogenic	842991		11:119216129-119216129	11:119345419-119345419
18	C1QTNF5 , MFRP	NM_031433.4(MFRP):c.642-2A>G	SNV	Conflicting interpretations of pathogenicity	497208	rs376898612	11:119215716-119215716	11:119345006-119345006
19	C1QTNF5 , MFRP	NM_031433.4(MFRP):c.1124+1G>T	SNV	Conflicting interpretations of pathogenicity	631652	rs145719998	11:119214525-119214525	11:119343815-119343815
20	C1QTNF5 , MFRP	NM_031433.4(MFRP):c.629G>T (p.Gly210Val)	SNV	Conflicting interpretations of pathogenicity	167296	rs150902999	11:119216142-119216142	11:119345432-119345432
21	C1QTNF5 , MFRP	NM_031433.4(MFRP):c.*1190C>T	SNV	Conflicting interpretations of pathogenicity	194544	rs540768941	11:119210479-119210479	11:119339769-119339769
22	C1QTNF5 , MFRP	NM_031433.4(MFRP):c.160C>G (p.Arg54Gly)	SNV	Conflicting interpretations of pathogenicity	196562	rs139436396	11:119216867-119216867	11:119346157-119346157
23	MFRP	NM_031433.4(MFRP):c.1256-4G>A	SNV	Conflicting interpretations of pathogenicity	193935	rs142533439	11:119213441-119213441	11:119342731-119342731
24	C1QTNF5 , MFRP	NM_031433.4(MFRP):c.773-9C>T	SNV	Conflicting interpretations of pathogenicity	198596	rs187321874	11:119215476-119215476	11:119344766-119344766
25	C1QTNF5 , MFRP	NM_031433.4(MFRP):c.195C>T (p.Phe65=)	SNV	Conflicting interpretations of pathogenicity	302976	rs138913508	11:119216832-119216832	11:119346122-119346122
26	C1QTNF5 , MFRP	NM_031433.4(MFRP):c.*483T>C	SNV	Conflicting interpretations of pathogenicity	302941	rs147285871	11:119211775-119211775	11:119341065-119341065
27	C1QTNF5 , MFRP	NM_031433.4(MFRP):c.773-8A>C	SNV	Conflicting interpretations of pathogenicity	302966	rs143891457	11:119215475-119215475	11:119344765-119344765
28	C1QTNF5 , MFRP	NM_031433.4(MFRP):c.*1237G>A	SNV	Conflicting interpretations of pathogenicity	302928	rs148291350	11:119210432-119210432	11:119339722-119339722
29	C1QTNF5 , MFRP	NM_031433.4(MFRP):c.807G>A (p.Gln269=)	SNV	Conflicting interpretations of pathogenicity	302964	rs371537663	11:119215433-119215433	11:119344723-119344723
30	C1QTNF5 , MFRP	NM_031433.4(MFRP):c.192C>G (p.Arg64=)	SNV	Conflicting interpretations of pathogenicity	302977	rs200143181	11:119216835-119216835	11:119346125-119346125
31	C1QTNF5 , MFRP	NM_031433.4(MFRP):c.1110+9G>A	SNV	Conflicting interpretations of pathogenicity	302930	rs771777653	11:119210885-119210885	11:119340175-119340175
32	C1QTNF5 , MFRP	NM_031433.4(MFRP):c.191G>A (p.Arg64His)	SNV	Conflicting interpretations of pathogenicity	302978	rs149376662	11:119216836-119216836	11:119346126-119346126
33	C1QTNF5 , MFRP	NM_031433.4(MFRP):c.1014C>A (p.Ser338Arg)	SNV	Conflicting interpretations of pathogenicity	167294	rs145319149	11:119214636-119214636	11:119343926-119343926
34	C1QTNF5 , MFRP	NM_031433.4(MFRP):c.-49G>A	SNV	Conflicting interpretations of pathogenicity	302984	rs201954533	11:119217272-119217272	11:119346562-119346562
35	C1QTNF5 , MFRP	NM_031433.4(MFRP):c.190C>T (p.Arg64Cys)	SNV	Uncertain significance	302979	rs147490836	11:119216837-119216837	11:119346127-119346127
36	C1QTNF5 , MFRP	NM_031433.4(MFRP):c.63C>A (p.Phe21Leu)	SNV	Uncertain significance	302980	rs868687394	11:119217076-119217076	11:119346366-119346366
37	C1QTNF5 , MFRP	NM_031433.4(MFRP):c.58G>A (p.Glu20Lys)	SNV	Uncertain significance	302981	rs529716845	11:119217081-119217081	11:119346371-119346371
38	C1QTNF5 , MFRP	NM_031433.4(MFRP):c.*895C>T	SNV	Uncertain significance	302933	rs751853220	11:119211109-119211109	11:119340399-119340399
39	C1QTNF5 , MFRP	NM_031433.4(MFRP):c.*652G>A	SNV	Uncertain significance	302940	rs886047824	11:119211606-119211606	11:119340896-119340896
40	C1QTNF5 , MFRP	NM_031433.4(MFRP):c.*126G>C	SNV	Uncertain significance	302946	rs886047827	11:119212132-119212132	11:119341422-119341422
41	C1QTNF5 , MFRP	NM_031433.4(MFRP):c.1475T>A (p.Ile492Asn)	SNV	Uncertain significance	302952	rs886047830	11:119212607-119212607	11:119341897-119341897
42	C1QTNF5 , MFRP	NM_031433.4(MFRP):c.975+10G>A	SNV	Uncertain significance	302957	rs886047832	11:119215015-119215015	11:119344305-119344305
43	C1QTNF5 , MFRP	NM_031433.4(MFRP):c.583G>A (p.Ala195Thr)	SNV	Uncertain significance	302968	rs886047833	11:119216188-119216188	11:119345478-119345478
44	C1QTNF5 , MFRP	NM_031433.4(MFRP):c.505C>T (p.His169Tyr)	SNV	Uncertain significance	302969	rs886047834	11:119216266-119216266	11:119345556-119345556
45	C1QTNF5 , MFRP	NM_031433.4(MFRP):c.*1879C>T	SNV	Uncertain significance	302920	rs886047816	11:119209790-119209790	11:119339080-119339080
46	C1QTNF5 , MFRP	NM_031433.4(MFRP):c.*1311G>A	SNV	Uncertain significance	302926	rs368962202	11:119210358-119210358	11:119339648-119339648
47	C1QTNF5 , MFRP	NM_031433.4(MFRP):c.*1140C>A	SNV	Uncertain significance	302929	rs886047818	11:119210529-119210529	11:119339819-119339819
48	C1QTNF5 , MFRP	NM_031433.4(MFRP):c.786T>A (p.His262Gln)	SNV	Uncertain significance	302965	rs751729583	11:119215454-119215454	11:119344744-119344744
49	C1QTNF5 , MFRP	NM_031433.4(MFRP):c.456G>C (p.Arg152Ser)	SNV	Uncertain significance	302971	rs756071297	11:119216315-119216315	11:119345605-119345605
50	C1QTNF5 , MFRP	NM_031433.4(MFRP):c.271+10C>T	SNV	Uncertain significance	302975	rs554865241	11:119216746-119216746	11:119346036-119346036

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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

Sources

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	8.8	MFRP CUBN C1QTNF5

Sources

Sources for Microphthalmia, Isolated 5

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

⁴² MedlinePlus

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NIH Rare Diseases

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM

⁵⁷ OMIM via Orphanet

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

⁶² PubMed Health

⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ TGDB

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ Wikipedia

Microphthalmia, Isolated 5 (MCOP5)

Aliases & Classifications for Microphthalmia, Isolated 5

MalaCards integrated aliases for Microphthalmia, Isolated 5:

Characteristics:

Orphanet epidemiological data:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Microphthalmia, Isolated 5

Related Diseases for Microphthalmia, Isolated 5

Diseases in the Isolated Microphthalmia family:

Diseases related to Microphthalmia, Isolated 5 via text searches within MalaCards or GeneCards Suite gene sharing:

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

Symptoms & Phenotypes for Microphthalmia, Isolated 5

Human phenotypes related to Microphthalmia, Isolated 5:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

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

MGI Mouse Phenotypes related to Microphthalmia, Isolated 5:

Drugs & Therapeutics for Microphthalmia, Isolated 5

Genetic Tests for Microphthalmia, Isolated 5

Genetic tests related to Microphthalmia, Isolated 5:

Anatomical Context for Microphthalmia, Isolated 5

MalaCards organs/tissues related to Microphthalmia, Isolated 5:

Publications for Microphthalmia, Isolated 5

Articles related to Microphthalmia, Isolated 5:

Genes for Microphthalmia, Isolated 5

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

Variations for Microphthalmia, Isolated 5

ClinVar genetic disease variations for Microphthalmia, Isolated 5:

Expression 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:

Sources for Microphthalmia, Isolated 5