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 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

Nanophtalmos-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

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 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 : 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 Microphthalmia, Isolated 2 family:

Microphthalmia, Isolated 1	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 25)

#	Related Disease	Score	Top Affiliating Genes
1	nanophthalmos 2	10.2	MFRP C1QTNF5
2	microphthalmia, isolated 6	10.2	MFRP C1QTNF5
3	partial third-nerve palsy	10.1	TUBB2B KIF21A
4	late-onset retinal degeneration	10.1	MFRP C1QTNF5
5	marcus gunn phenomenon	10.0	PHOX2A KIF21A
6	myotonic cataract	10.0	PHOX2A KIF21A
7	fibrosis of extraocular muscles, congenital, 2	10.0	PHOX2A KIF21A
8	hypotropia	10.0	PHOX2A KIF21A
9	hypertropia	10.0	PHOX2A KIF21A
10	orbital disease	10.0	PHOX2A KIF21A
11	exotropia	9.9	PHOX2A KIF21A
12	duane-radial ray syndrome	9.9	PHOX2A KIF21A
13	congenital ptosis	9.9	PHOX2A KIF21A
14	amblyopia	9.8	PHOX2A KIF21A
15	cranial nerve disease	9.7	PHOX2A KIF21A
16	paralytic squint	9.7	TUBB2B PHOX2A KIF21A
17	esotropia	9.7	TUBB2B PHOX2A KIF21A
18	ocular motility disease	9.7	TUBB2B PHOX2A KIF21A
19	tukel syndrome	9.7	TUBB2B PHOX2A KIF21A
20	duane retraction syndrome	9.7	TUBB2B PHOX2A KIF21A
21	strabismus	9.6	TUBB2B PHOX2A KIF21A
22	vitamin metabolic disorder	9.6	MTHFR CUBN
23	vitamin b12 deficiency	9.5	MTHFR CUBN
24	colorectal adenoma	9.4	MTHFR GREM1
25	megaloblastic anemia	9.3	MTHFR CUBN

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	rod-cone dystrophy ³¹		HP:0000510
5	nyctalopia ³¹		HP:0000662
6	abnormality of skin pigmentation ³¹		HP:0001000
7	reduced visual acuity ³¹		HP:0007663
8	microphthalmia ³¹		HP:0000568
9	hypermetropia ³¹		HP:0000540
10	scleral thickening ³¹		HP:0030823
11	abnormal light- and dark-adapted electroretinogram ³¹		HP:0008323
12	bone spicule pigmentation of the retina ³¹		HP:0007737
13	retinal pigment epithelial atrophy ³¹		HP:0007722
14	foveoschisis ³¹		HP:0012152
15	optic disc drusen ³¹		HP:0012426

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 13)

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	Increased shRNA abundance (Z-score > 2)	GR00366-A-168	9.83	C1QTNF5 MFRP
2	Increased shRNA abundance (Z-score > 2)	GR00366-A-173	9.83	C1QTNF5 MFRP MTHFR
3	Increased shRNA abundance (Z-score > 2)	GR00366-A-178	9.83	C1QTNF5 MFRP
4	Increased shRNA abundance (Z-score > 2)	GR00366-A-180	9.83	MTHFR
5	Increased shRNA abundance (Z-score > 2)	GR00366-A-190	9.83	C1QTNF5 MFRP
6	Increased shRNA abundance (Z-score > 2)	GR00366-A-214	9.83	MTHFR
7	Increased shRNA abundance (Z-score > 2)	GR00366-A-26	9.83	C1QTNF5 MFRP
8	Increased shRNA abundance (Z-score > 2)	GR00366-A-44	9.83	C1QTNF5 MFRP
9	Increased shRNA abundance (Z-score > 2)	GR00366-A-46	9.83	MTHFR
10	Increased shRNA abundance (Z-score > 2)	GR00366-A-6	9.83	MTHFR
11	Increased shRNA abundance (Z-score > 2)	GR00366-A-63	9.83	MTHFR
12	Increased shRNA abundance (Z-score > 2)	GR00366-A-76	9.83	MTHFR
13	Increased shRNA abundance (Z-score > 2)	GR00366-A-77	9.83	MTHFR

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. ⁶ ⁵⁶	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. ⁶ ⁵⁶	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. ⁶ ⁵⁶	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

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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	1368.34	Molecular basis known ⁵⁶ Pathogenic ⁶ Causative germline mutation (loss of function) ⁵⁸ Genetic Tests ²⁹ GeneCards inferred via : Disorders Variants (show sections)	17167404 18554571 19753314 (more) 21670352 22605927 20361016 1258954 15976030
2	C1QTNF5	C1q And TNF Related 5	Protein Coding	8.84	GeneCards inferred via : Variants (show sections)
3	TUBB2B	Tubulin Beta 2B Class IIb	Protein Coding	6.66	DISEASES inferred ¹⁵
4	KIF21A	Kinesin Family Member 21A	Protein Coding	6.59	DISEASES inferred ¹⁵
5	PHOX2A	Paired Like Homeobox 2A	Protein Coding	6.56	DISEASES inferred ¹⁵
6	MTHFR	Methylenetetrahydrofolate Reductase	Protein Coding	4.89	DISEASES inferred ¹⁵
7	CUBN	Cubilin	Protein Coding	4.68	DISEASES inferred ¹⁵
8	GREM1	Gremlin 1, DAN Family BMP Antagonist	Protein Coding	4.28	DISEASES inferred ¹⁵

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Variations for Microphthalmia, Isolated 5

ClinVar genetic disease variations for Microphthalmia, Isolated 5:

⁶ (show all 19) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	MFRP	NM_031433.4(MFRP):c.1150dup (p.His384fs)	duplication	Pathogenic	4474	rs587776595	11:119213688-119213688	11:119342978-119342978
2	MFRP	NM_031433.4(MFRP):c.498del (p.Asn167fs)	deletion	Pathogenic	4476	rs587776596	11:119216273-119216273	11:119345563-119345563
3	MFRP	NM_031433.4(MFRP):c.498dup (p.Asn167fs)	duplication	Pathogenic	4478	rs587776596	11:119216273-119216273	11:119345563-119345563
4	MFRP	NM_031433.4(MFRP):c.951C>A (p.Tyr317Ter)	SNV	Pathogenic	183043	rs730882141	11:119215049-119215049	11:119344339-119344339
5	MFRP	NM_031433.4(MFRP):c.1618_1621TCTG[1] (p.Val541fs)	short repeat	Pathogenic	183044	rs730882142	11:119212373-119212376	11:119341663-119341666
6	MFRP	NM_031433.4(MFRP):c.201G>A (p.Trp67Ter)	SNV	Pathogenic	183045	rs150232843	11:119216826-119216826	11:119346116-119346116
7	MFRP	NM_031433.4(MFRP):c.1549C>T (p.Arg517Trp)	SNV	Pathogenic	183047	rs730882144	11:119212449-119212449	11:119341739-119341739
8	MFRP	NM_031433.4(MFRP):c.958C>T (p.Gln320Ter)	SNV	Pathogenic	209172	rs797045054	11:119215042-119215042	11:119344332-119344332
9	MFRP	NM_031433.4(MFRP):c.397G>T (p.Glu133Ter)	SNV	Pathogenic	468921	rs770341402	11:119216513-119216513	11:119345803-119345803
10	MFRP	NM_031433.4(MFRP):c.629del (p.Gly210fs)	deletion	Pathogenic	571158	rs1565295426	11:119216142-119216142	11:119345432-119345432
11	MFRP	NM_031433.4(MFRP):c.491_492insT (p.Asn167fs)	insertion	Pathogenic/Likely pathogenic	183046	rs730882143	11:119216279-119216280	11:119345569-119345570
12	MFRP	NM_031433.4(MFRP):c.899-2A>G	SNV	Likely pathogenic	488460	rs1245503127	11:119215103-119215103	11:119344393-119344393
13	MFRP	NM_031433.4(MFRP):c.104dup (p.Pro36fs)	duplication	Likely pathogenic	488459	rs749156010	11:119217035-119217035	11:119346325-119346325
14	C1QTNF5 , MFRP	NM_031433.4(MFRP):c.642-2A>G	SNV	Conflicting interpretations of pathogenicity	497208	rs376898612	11:119215716-119215716	11:119345006-119345006
15	C1QTNF5 , MFRP	NM_031433.4(MFRP):c.191G>A (p.Arg64His)	SNV	Conflicting interpretations of pathogenicity	302978	rs149376662	11:119216836-119216836	11:119346126-119346126
16	MFRP	NM_031433.4(MFRP):c.746G>A (p.Trp249Ter)	SNV	Uncertain significance	191026	rs786205471	11:119215610-119215610	11:119344900-119344900
17	MFRP	NM_031433.4(MFRP):c.1148C>G (p.Pro383Arg)	SNV	Uncertain significance	569324		11:119213690-119213690	11:119342980-119342980
18	C1QTNF5 , MFRP	NM_031433.4(MFRP):c.1014C>A (p.Ser338Arg)	SNV	Uncertain significance	167294	rs145319149	11:119214636-119214636	11:119343926-119343926
19	C1QTNF5 , MFRP	NM_031433.4(MFRP):c.770G>A (p.Arg257His)	SNV	Benign/Likely benign	198271	rs61736238	11:119215586-119215586	11:119344876-119344876

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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	8.8	MFRP CUBN C1QTNF5

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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 Microphthalmia, Isolated 2 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