Coloboma of Macula disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MedlinePlus Genetics: ⁴² Coloboma is an eye abnormality that occurs before birth. Colobomas are missing pieces of tissue in structures that form the eye. They may appear as notches or gaps in one of several parts of the eye, including the colored part of the eye called the iris; the retina, which is the specialized light-sensitive tissue that lines the back of the eye; the blood vessel layer under the retina called the choroid; or the optic nerves, which carry information from the eyes to the brain.Colobomas may be present in one or both eyes and, depending on their size and location, can affect a person's vision. Colobomas affecting the iris, which result in a "keyhole" appearance of the pupil, generally do not lead to vision loss. Colobomas involving the retina result in vision loss in specific parts of the visual field. Large retinal colobomas or those affecting the optic nerve can cause low vision, which means vision loss that cannot be completely corrected with glasses or contact lenses.Some people with coloboma also have a condition called microphthalmia. In this condition, one or both eyeballs are abnormally small. In some affected individuals, the eyeball may appear to be completely missing; however, even in these cases some remaining eye tissue is generally present. Such severe microphthalmia should be distinguished from another condition called anophthalmia, in which no eyeball forms at all. However, the terms anophthalmia and severe microphthalmia are often used interchangeably. Microphthalmia may or may not result in significant vision loss.People with coloboma may also have other eye abnormalities, including clouding of the lens of the eye (cataract), increased pressure inside the eye (glaucoma) that can damage the optic nerve, vision problems such as nearsightedness (myopia), involuntary back-and-forth eye movements (nystagmus), or separation of the retina from the back of the eye (retinal detachment).Some individuals have coloboma as part of a syndrome that affects other organs and tissues in the body. These forms of the condition are described as syndromic. When coloboma occurs by itself, it is described as nonsyndromic or isolated.Colobomas involving the eyeball should be distinguished from gaps that occur in the eyelids. While these eyelid gaps are also called colobomas, they arise from abnormalities in different structures during early development.

MalaCards based summary: Coloboma of Macula, also known as coloboma, is related to papillorenal syndrome and coloboma of optic nerve. An important gene associated with Coloboma of Macula is FZD5 (Frizzled Class Receptor 5), and among its related pathways/superpathways are Ectoderm differentiation and Mesodermal commitment pathway. Affiliated tissues include eye, retina and heart, and related phenotypes are macular coloboma and nervous system

GARD: ¹⁹ Coloboma of macula is a rare, non-syndromic developmental defect of the eye characterized by well-circumscribed, oval or rounded, usually unilateral, atrophic lesions of varying size presenting rudimentary or absent retina, choroid and sclera located at the macula leading to decreased vision and, on occasion, other symptoms (e.g. strabismus). It is usually isolated, but may also be associated with Down syndrome, skeletal or renal disorders.

Orphanet: ⁵⁸ Coloboma of macula is a rare, non-syndromic developmental defect of the eye characterized by well-circumscribed, oval or rounded, usually unilateral, atrophic lesions of varying size presenting rudimentary or absent retina, choroid and sclera located at the macula leading to decreased vision and, on occasion, other symptoms (e.g. strabismus). It is usually isolated, but may also be associated with Down syndrome, skeletal or renal disorders.

Disease Ontology: ¹¹ An eye disease characterized by missing pieces of tissue in structures that form the eye, such as the iris, retina, choroid or optic disc.

Wikipedia: ⁷⁵ A coloboma (from the Greek κολόβωμα, meaning defect) is a hole in one of the structures of the eye, such... more...

More information from OMIM: 120300

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Related Diseases for Coloboma of Macula

Diseases related to Coloboma of Macula via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 631)

#	Related Disease	Score	Top Affiliating Genes
1	papillorenal syndrome	33.6	PAX6 PAX2 CRYAA CHD7
2	coloboma of optic nerve	33.5	SALL2 PAX6 PAX2 FZD5 ELP4 CRYAA
3	coloboma, ocular, autosomal dominant	33.5	YAP1 WDR37 TMEM67 RBP4 RARB PAX6
4	coloboma of iris	33.3	TMEM67 SALL2 PAX6 FZD5 CHD7 ABCB6
5	retinochoroidal coloboma	33.3	SALL2 PAX6 FZD5 CHD7 ABCB6
6	microphthalmia	33.2	YAP1 SALL2 RBP4 RARB PAX6 PAX2
7	coloboma of eye lens	32.9	SALL2 PAX6 FZD5 ABCB6
8	colobomatous microphthalmia	32.7	RBP4 PAX6 PAX2 C12orf57 ABCB6
9	coloboma of eyelid	32.5	SALL2 PAX6 FZD5 ABCB6
10	aniridia 1	32.2	PAX6 PAX2 ELP4 CRYAA
11	myopia	31.2	RARB PAX6 CRYAA CHD7
12	hypertelorism	31.1	PAX6 MYH10 ELP4
13	pathologic nystagmus	31.1	PAX6 CRYAA
14	esotropia	30.8	PAX6 CRYAA CHD7
15	peters-plus syndrome	30.7	WDR37 PAX6 ELP4 CRYAA CHD7
16	persistent hyperplastic primary vitreous	30.7	PAX6 PAX2 FZD5 CRYAA
17	keratitis, hereditary	30.7	PAX6 PAX2 ELP4 CRYAA
18	anterior segment dysgenesis	30.7	PAX6 PAX2 ELP4 CRYAA
19	scleral staphyloma	30.7	PAX2 CRYAA
20	fundus dystrophy	30.6	TMEM67 RBP4 PAX6 PAX2 CRYAA
21	keratomalacia	30.5	RBP4 RARB
22	axenfeld-rieger syndrome, type 3	30.4	PAX6 CRYAA
23	aniridia 2	30.2	PAX6 ELP4
24	microphthalmia, syndromic 6	30.2	PAX6 FZD5
25	leukocoria	30.2	PAX6 CRYAA
26	anisometropia	30.2	PAX6 CRYAA
27	coloboma of macula with type b brachydactyly	11.8
28	uveal coloboma-cleft lip and palate-intellectual disability	11.6
29	corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome	11.5
30	coach syndrome 1	11.5
31	nasopalpebral lipoma-coloboma syndrome	11.5
32	microphthalmia, isolated, with coloboma 9	11.5
33	charge syndrome	11.4
34	coloboma, ocular, autosomal recessive	11.4
35	temtamy syndrome	11.4
36	abruzzo-erickson syndrome	11.4
37	microphthalmia/coloboma and skeletal dysplasia syndrome	11.4
38	retinal dystrophy and iris coloboma with or without congenital cataract	11.4
39	microphthalmia, isolated, with coloboma 1	11.3
40	microcornea posterior megalolenticonus persistent fetal vasculature coloboma	11.3
41	cerebral-cerebellar-coloboma syndrome, x-linked	11.3
42	microtia with nasolacrimal duct imperforation and eye coloboma	11.3
43	kahrizi syndrome	11.3
44	microphthalmia, isolated, with coloboma 3	11.3
45	baraitser-winter syndrome	11.3
46	frontonasal dysplasia with alar clefts	11.3
47	congenital disorder of glycosylation, type iq	11.3
48	coloboma of optic papilla	11.3
49	microphthalmia, isolated, with coloboma 5	11.3
50	baraitser-winter syndrome 1	11.3

Graphical network of the top 20 diseases related to Coloboma of Macula:

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Symptoms & Phenotypes for Coloboma of Macula

Human phenotypes related to Coloboma of Macula:

³⁰

#	Description	HPO Frequency	Orphanet Frequency	HPO Source Accession
1	macular coloboma ³⁰			HP:0001116

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 08-Dec-2022)

Eyes:
agenesis of macula
coloboma of macula

Clinical features from OMIM®:

120300 (Updated 08-Dec-2022)

MGI Mouse Phenotypes related to Coloboma of Macula:

⁴⁵

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	nervous system	MP:0003631	10.14	CDON CHD7 FZD5 MYH10 PAX2 PAX6
2	embryo	MP:0005380	10.07	CDON CHD7 FZD5 MYH10 PAX2 PAX6
3	cellular	MP:0005384	10.03	ABCB6 CDON CHD7 CRYAA FZD5 MYH10
4	digestive/alimentary	MP:0005381	9.92	CDON CHD7 FZD5 PAX6 RARB RBP4
5	cardiovascular system	MP:0005385	9.85	CDON CHD7 FZD5 MYH10 PAX2 PAX6
6	vision/eye	MP:0005391	9.7	CAPN15 CDON CHD7 CRYAA FZD5 MYH10
7	mortality/aging	MP:0010768	9.44	ABCB6 C12orf57 CAPN15 CDON CHD7 FZD5

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Drugs & Therapeutics for Coloboma of Macula

Interventional clinical trials:

#	Name	Status	NCT ID
1	Assessment of the Prevalence and Mutational Spectrum of Genes AHI1, NPHP1 and CEP290 in Joubert Syndrome and Cerebello-oculo-renal Syndromes	Completed	NCT00873678
2	Pathogenesis and Genetics of Microphthalmia, Anophthalmia and Uveal Coloboma ( MAC)	Recruiting	NCT01778543
3	A More Engaging Visual Field Test to Increase Use and Reliability in Pediatrics	Recruiting	NCT02157025
4	Pilot Evaluation of Potential Environmental Causes of Uveal Coloboma	Enrolling by invitation	NCT04833361
5	Family Studies of Uveal Coloboma	Terminated	NCT00368004

Search NIH Clinical Center for Coloboma of Macula

Cochrane evidence based reviews: coloboma

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Genetic Tests for Coloboma of Macula

Genetic tests related to Coloboma of Macula:

#	Genetic test	Affiliating Genes
1	Congenital Ocular Coloboma ²⁸

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Anatomical Context for Coloboma of Macula

Organs/tissues related to Coloboma of Macula:

MalaCards : Eye, Retina, Heart, Kidney, Bone, Brain, Olfactory Bulb

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Publications for Coloboma of Macula

Articles related to Coloboma of Macula:

(show top 50) (show all 2442)

#	Title	Authors	PMID	Year
1	A secreted WNT-ligand-binding domain of FZD5 generated by a frameshift mutation causes autosomal dominant coloboma. ⁶² ⁵	Liu C...Swaroop A	26908622	2016
2	Heterozygous loss-of-function mutations in YAP1 cause both isolated and syndromic optic fissure closure defects. ⁶² ⁵	Williamson KA...Fitzpatrick DR	24462371	2014
3	ABCB6 mutations cause ocular coloboma. ⁶² ⁵	Wang L...Yang Z	22226084	2012
4	[Linkage analysis of a Chinese family with autosomal dominant congenital retinaochoroidal coloboma]. ⁶² ⁵	Dong JM...Wang LJ	19504436	2009
5	Mutations of the PAX6 gene detected in patients with a variety of optic-nerve malformations. ⁶² ⁵	Azuma N...Yamada M	12721955	2003
6	Hereditary macular coloboma. ⁶² ⁵⁷	Phillips CI	4992343	1970
7	Bilateral "Macular Coloboma" in Mother and Son. ⁶² ⁵⁷	Davenport RC	19986141	1927
8	Panel-based whole exome sequencing identifies novel mutations in microphthalmia and anophthalmia patients showing complex Mendelian inheritance patterns. ⁵	Riera M...Pomares E	29178648	2017
9	Histology and synchrotron radiation-based microtomography of the inner ear in a molecularly confirmed case of CHARGE syndrome. ⁵³ ⁶²	Glueckert R...Janecke AR	20186814	2010
10	Cardiac phenotyping in ex vivo murine embryos using microMRI. ⁵³ ⁶²	Cleary JO...Lythgoe MF	19598179	2009
11	Genomic distribution of CHD7 on chromatin tracks H3K4 methylation patterns. ⁵³ ⁶²	Schnetz MP...Scacheri PC	19251738	2009
12	Ectopic Pax2 expression in chick ventral optic cup phenocopies loss of Pax2 expression. ⁵³ ⁶²	Sehgal R...Belecky-Adams TL	18485342	2008
13	A clinico-genetic study of renal coloboma syndrome in children. ⁵³ ⁶²	Cheong HI...Choi Y	17541647	2007
14	Renal hypoplasia without optic coloboma associated with PAX2 gene deletion. ⁵³ ⁶²	Benetti E...Murer L	17403695	2007
15	Renal-coloboma syndrome: a single nucleotide deletion in the PAX2 gene at Exon 8 is associated with a highly variable phenotype. ⁵³ ⁶²	Taranta A...Dello Strologo L	17269592	2007
16	[Molecular diagnosis of CHARGE syndrom]. ⁵³ ⁶²	Pedersen AM...Skovby F	17280632	2007
17	Multicystic dysplastic kidney and variable phenotype in a family with a novel deletion mutation of PAX2. ⁵³ ⁶²	Fletcher J...Alexander SI	16049068	2005
18	Norepinephrine regulates locomotor hyperactivity in the mouse mutant coloboma. ⁵³ ⁶²	Jones MD...Hess EJ	12759129	2003
19	Novel mutation in sonic hedgehog in non-syndromic colobomatous microphthalmia. ⁵³ ⁶²	Schimmenti LA...Muenke M	12503095	2003
20	[Renal-coloboma syndrome]. ⁵³ ⁶²	Asensio Sanchez VM...De Paz Garcia M	12410411	2002
21	National study of microphthalmia, anophthalmia, and coloboma (MAC) in Scotland: investigation of genetic aetiology. ⁵³ ⁶²	Morrison D...Campbell H	11826019	2002
22	Identification of DNA variants in the SNAP-25 gene and linkage study of these polymorphisms and attention-deficit hyperactivity disorder. ⁵³ ⁶²	Barr CL...Kennedy JL	10889551	2000
23	Primary renal hypoplasia in humans and mice with PAX2 mutations: evidence of increased apoptosis in fetal kidneys of Pax2(1Neu) +/- mutant mice. ⁵³ ⁶²	Porteous S...Eccles M	10587573	2000
24	Renal-coloboma syndrome: a multi-system developmental disorder caused by PAX2 mutations. ⁵³ ⁶²	Eccles MR...Schimmenti LA	10466411	1999
25	The prevalence of PAX2 mutations in patients with isolated colobomas or colobomas associated with urogenital anomalies. ⁵³ ⁶²	Cunliffe HE...Eccles MR	9783702	1998
26	Effects of PAX2 expression in a human fetal kidney (HEK293) cell line. ⁵³ ⁶²	Torban E...Goodyer PR	9459485	1998
27	Pax genes and organogenesis. ⁵³ ⁶²	Dahl E...Balling R	9297966	1997
28	Dominant inheritance of optic pits. ⁵³ ⁶²	Stefko ST...Traboulsi EI	9222245	1997
29	Genomic structure of the human PAX2 gene. ⁵³ ⁶²	Sanyanusin P...Eccles MR	8661132	1996
30	A Novel Surgical Method of Reconstruction for Proboscis Lateralis: A Case Report and Review of the Literature. ⁶²	Boynuyogun E...Ozgur F	34755550	2023
31	4D printed orbital stent for the treatment of enophthalmic invagination. ⁶²	Deng Y...Leng J	36356472	2022
32	Pseudo second anterior lens capsule during post-vitrectomy cataract surgery: A case report. ⁶²	Drew-Bear LE...Behrens A	36111278	2022
33	CONGENITAL POSTERIOR POLAR CHORIORETINAL HYPOPLASIA: Expansion of the Clinical Spectrum, Mutation, and Its Association With PRDM13. ⁶²	Small KW...Shaya FS	36007168	2022
34	ARHGAP35 is a novel factor disrupted in human developmental eye phenotypes. ⁶²	Reis LM...Semina EV	36450800	2022
35	[Double optic disc: True duplication or coloboma?] ⁶²	Mahmoud A...Messaoud R	36307345	2022
36	Novel Compound Heterozygous Variations in MPDZ Gene Caused Isolated Bilateral Macular Coloboma in a Chinese Family. ⁶²	Zhang S...Sheng X	36429029	2022
37	Identification of causative gene mutation in an Iranian family with coloboma and nephropathy using whole exome sequencing. ⁶²	Esmaeilzadeh E...Khorram Khorshid HR	35179696	2022
38	Low-level complex mosaic with multiple cell lines affecting the 18q21.31q21.32 region in a patient with de novo 18q terminal deletion. ⁶²	Bonaglia MC...Zuffardi O	36064004	2022
39	Zfp503/Nlz2 Is Required for RPE Differentiation and Optic Fissure Closure. ⁶²	Boobalan E...Brooks BP	36326727	2022
40	Variants in HNRNPH1 are associated with high myopia in humans and ocular coloboma in zebrafish. ⁶²	Ouyang J...Zhang Q	35989590	2022
41	c-Jun N-terminal kinase 1 (JNK1) phosphorylates OTX2 transcription factor that regulates early retinal development. ⁶²	An MJ...Kim JW	36434388	2022
42	Chromatin remodeler Chd7 regulates photoreceptor development and outer segment length. ⁶²	Krueger LA...Morris AC	36343670	2022
43	Evaluation of somatic and/or germline mosaicism in congenital malformation of the eye. ⁶²	Chesneau B...Plaisancie J	36404347	2022
44	Phenotypic and Molecular Heterogeneity in Mandibulofacial Dysostoses: A Case Series From India. ⁶²	Shenoy RD...Chakraborty A	34714179	2022
45	Cell fate decisions, transcription factors and signaling during early retinal development. ⁶²	Diacou R...Cvekl A	35817658	2022
46	Fundus Changes in the Offspring of Mothers With Confirmed Zika Virus Infection During Pregnancy in French Guiana, Guadeloupe, and Martinique, French West Indies. ⁶²	Merle H...Hoen B	36048466	2022
47	A primary DICER1-sarcoma with KRAS and TP53 mutations in a child with suspected ECCL. ⁶²	Yang K...Provias J	35668302	2022
48	Real-world clinical and molecular management of 50 prospective patients with microphthalmia, anophthalmia and/or ocular coloboma. ⁶²	Harding P...Moosajee M	36192130	2022
49	EPHA2 biallelic disruption causes syndromic complex microphthalmia with iris hypoplasia. ⁶²	Courdier C...Plaisancie J	35918037	2022
50	A New Case and Comprehensive Review of the Ophthalmic Manifestations of 172 Individuals With Branchio-Oculo-Facial Syndrome. ⁶²	Lam K...Couser NL	36263936	2022

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Genes for Coloboma of Macula

Genes related to Coloboma of Macula (12 elite genes):

(show top 50) (show all 144)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	FZD5	Frizzled Class Receptor 5	Protein Coding	780.5	Pathogenic ⁵ Causative germline mutation (gain of function) ⁵⁸ Likely pathogenic ⁵ DISEASES inferred ¹⁴	26908622
2	PAX6	Paired Box 6	Protein Coding	766.96	Pathogenic ⁵ Causative germline mutation ⁵⁸ DISEASES inferred ¹⁴ Novoseek inferred ⁵³	12721955 16604056 11826019
3	ABCB6	ATP Binding Cassette Subfamily B Member 6 (Langereis Blood Group)	Protein Coding	756.24	Pathogenic ⁵ Causative germline mutation ⁵⁸ DISEASES inferred ¹⁴	19504436 22226084
4	PAX2	Paired Box 2	Protein Coding	419.06	Pathogenic ⁵ DISEASES inferred ¹⁴ Novoseek inferred ⁵³	7795640 16049068 12503095 (more) 17269592 17403695 10535325 17541647 9222245 18485342 9598733 8661132 10466411 10587573 12410411 9459485 9783702
5	RARB	Retinoic Acid Receptor Beta	Protein Coding	405.34	Pathogenic ⁵ DISEASES inferred ¹⁴
6	YAP1	Yes1 Associated Transcriptional Regulator	Protein Coding	405.32	Pathogenic ⁵ DISEASES inferred ¹⁴	24462371
7	RBP4	Retinol Binding Protein 4	Protein Coding	404.22	Pathogenic ⁵ DISEASES inferred ¹⁴	29178648
8	ELP4	Elongator Acetyltransferase Complex Subunit 4	Protein Coding	404.11	Pathogenic ⁵ DISEASES inferred ¹⁴
9	MYH10	Myosin Heavy Chain 10	Protein Coding	400	Pathogenic ⁵
10	SALL2	Spalt Like Transcription Factor 2	Protein Coding	355.74	Causative germline mutation (loss of function) ⁵⁸ DISEASES inferred ¹⁴	24412933
11	MCOPCB1	Microphthalmia, Colobomatous, 1	Genetic Locus	50	MalaCards inferred ³⁹
12	MCOPCB2	Microphthalmia, Colobomatous, 2	Genetic Locus	50	MalaCards inferred ³⁹
13	TMEM67	Transmembrane Protein 67	Protein Coding	32.34	Likely pathogenic ⁵ DISEASES inferred ¹⁴
14	CDON	Cell Adhesion Associated, Oncogene Regulated	Protein Coding	30.62	Likely pathogenic ⁵ DISEASES inferred ¹⁴
15	WDR37	WD Repeat Domain 37	Protein Coding	30.47	Likely pathogenic ⁵ DISEASES inferred ¹⁴
16	C12orf57	Chromosome 12 Open Reading Frame 57	Protein Coding	30.42	Likely pathogenic ⁵ DISEASES inferred ¹⁴
17	CAPN15	Calpain 15	Protein Coding	28.66	Likely pathogenic ⁵ DISEASES inferred ¹⁴
18	FIBP	FGF1 Intracellular Binding Protein	Protein Coding	28.65	Likely pathogenic ⁵ DISEASES inferred ¹⁴
19	CHD7	Chromodomain Helicase DNA Binding Protein 7	Protein Coding	20.23	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	17280632 19598179 20186814 (more) 19251738
20	CRYAA	Crystallin Alpha A	Protein Coding	11.81	DISEASES inferred ¹⁴ ¹⁴
21	SNAP25	Synaptosome Associated Protein 25	Protein Coding	10.49	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	12759129 10889551
22	VAX2	Ventral Anterior Homeobox 2	Protein Coding	7.72	DISEASES inferred ¹⁴
23	VSX2	Visual System Homeobox 2	Protein Coding	7.57	DISEASES inferred ¹⁴
24	VAX1	Ventral Anterior Homeobox 1	Protein Coding	7.48	DISEASES inferred ¹⁴
25	H2AC18	H2A Clustered Histone 18	Protein Coding	7.47	DISEASES inferred ¹⁴ ¹⁴
26	OTX2	Orthodenticle Homeobox 2	Protein Coding	7.46	DISEASES inferred ¹⁴
27	GDF6	Growth Differentiation Factor 6	Protein Coding	7.31	DISEASES inferred ¹⁴
28	FOXE3	Forkhead Box E3	Protein Coding	7.24	DISEASES inferred ¹⁴
29	TCOF1	Treacle Ribosome Biogenesis Factor 1	Protein Coding	7.11	DISEASES inferred ¹⁴
30	MAB21L2	Mab-21 Like 2	Protein Coding	7.06	DISEASES inferred ¹⁴
31	CC2D2A	Coiled-Coil And C2 Domain Containing 2A	Protein Coding	6.96	DISEASES inferred ¹⁴
32	STRA6	Signaling Receptor And Transporter Of Retinol STRA6	Protein Coding	6.95	DISEASES inferred ¹⁴
33	SHH	Sonic Hedgehog Signaling Molecule	Protein Coding	6.85	DISEASES inferred ¹⁴
34	PIGL	Phosphatidylinositol Glycan Anchor Biosynthesis Class L	Protein Coding	6.84	DISEASES inferred ¹⁴
35	CEP290	Centrosomal Protein 290	Protein Coding	6.83	DISEASES inferred ¹⁴
36	RPGRIP1L	RPGRIP1 Like	Protein Coding	6.77	DISEASES inferred ¹⁴
37	SIX3	SIX Homeobox 3	Protein Coding	6.75	DISEASES inferred ¹⁴
38	AHI1	Abelson Helper Integration Site 1	Protein Coding	6.74	DISEASES inferred ¹⁴
39	PITX2	Paired Like Homeodomain 2	Protein Coding	6.7	DISEASES inferred ¹⁴
40	TMEM216	Transmembrane Protein 216	Protein Coding	6.68	DISEASES inferred ¹⁴
41	NPHP1	Nephrocystin 1	Protein Coding	6.6	DISEASES inferred ¹⁴
42	SRD5A3	Steroid 5 Alpha-Reductase 3	Protein Coding	6.51	DISEASES inferred ¹⁴
43	ALDH1A3	Aldehyde Dehydrogenase 1 Family Member A3	Protein Coding	6.5	DISEASES inferred ¹⁴
44	SIX6	SIX Homeobox 6	Protein Coding	6.39	DISEASES inferred ¹⁴
45	FGF8	Fibroblast Growth Factor 8	Protein Coding	6.39	DISEASES inferred ¹⁴
46	BMP4	Bone Morphogenetic Protein 4	Protein Coding	6.38	DISEASES inferred ¹⁴
47	MKS1	MKS Transition Zone Complex Subunit 1	Protein Coding	6.37	DISEASES inferred ¹⁴
48	GDF3	Growth Differentiation Factor 3	Protein Coding	6.35	DISEASES inferred ¹⁴
49	SOX2	SRY-Box Transcription Factor 2	Protein Coding	6.34	DISEASES inferred ¹⁴
50	TFAP2A	Transcription Factor AP-2 Alpha	Protein Coding	6.34	DISEASES inferred ¹⁴

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Variations for Coloboma of Macula

ClinVar genetic disease variations for Coloboma of Macula:

⁵ (show all 37)

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	ABCB6	NM_005689.4(ABCB6):c.2431C>G (p.Leu811Val)	SNV	Pathogenic	30482	rs387906910	GRCh37: 2:220074758-220074758 GRCh38: 2:219210036-219210036
2	YAP1	NM_001130145.3(YAP1):c.370C>T (p.Arg124Ter)	SNV	Pathogenic	120326	rs587777249	GRCh37: 11:101984923-101984923 GRCh38: 11:102114192-102114192
3	RBP4	NM_006744.4(RBP4):c.394T>A (p.Tyr132Asn)	SNV	Pathogenic	430902	rs1329285216	GRCh37: 10:95353754-95353754 GRCh38: 10:93593997-93593997
4	FZD5	NM_003468.4(FZD5):c.820del (p.Leu274fs)	DEL	Pathogenic	694329	rs2091988799	GRCh37: 2:208632644-208632644 GRCh38: 2:207767920-207767920
5	ABCB6	NM_005689.4(ABCB6):c.169G>A (p.Ala57Thr)	SNV	Pathogenic	30483	rs387906911	GRCh37: 2:220083227-220083227 GRCh38: 2:219218505-219218505
6	PAX6	NM_001368894.2(PAX6):c.815T>C (p.Phe272Ser)	SNV	Pathogenic	3477	rs121907925	GRCh37: 11:31815343-31815343 GRCh38: 11:31793795-31793795
7	MYH10	NM_001256012.3(MYH10):c.4505G>C (p.Arg1502Pro)	SNV	Pathogenic	625873	rs755969165	GRCh37: 17:8395781-8395781 GRCh38: 17:8492463-8492463
8	PAX6	NM_001368894.2(PAX6):c.823C>T (p.Arg275Ter)	SNV	Pathogenic	279862	rs886041222	GRCh37: 11:31815335-31815335 GRCh38: 11:31793787-31793787
9	RARB	NM_000965.5(RARB):c.1151-1G>C	SNV	Pathogenic	1710328		GRCh37: 3:25637910-25637910 GRCh38: 3:25596419-25596419
10	PAX2	NM_000278.5(PAX2):c.389_390insTGCT (p.Ser131fs)	INSERT	Pathogenic	1710335		GRCh37: 10:102510627-102510628 GRCh38: 10:100750870-100750871
11	ELP4, PAX6	NM_001368894.2(PAX6):c.1310A>T (p.Ter437Leu)	SNV	Pathogenic	3474	rs121907922	GRCh37: 11:31811483-31811483 GRCh38: 11:31789935-31789935
12	TMEM67	NM_153704.6(TMEM67):c.1843T>C (p.Cys615Arg)	SNV	Likely Pathogenic	1383	rs201893408	GRCh37: 8:94808198-94808198 GRCh38: 8:93795970-93795970
13	C12orf57	NM_138425.4(C12orf57):c.1A>G (p.Met1Val)	SNV	Likely Pathogenic	41942	rs587776954	GRCh37: 12:7053285-7053285 GRCh38: 12:6944122-6944122
14	FIBP	NM_004214.5(FIBP):c.652C>T (p.Gln218Ter)	SNV	Likely Pathogenic	189359	rs786204849	GRCh37: 11:65652652-65652652 GRCh38: 11:65885181-65885181
15	WDR37	NM_014023.4(WDR37):c.374C>T (p.Thr125Ile)	SNV	Likely Pathogenic	440948	rs1554823375	GRCh37: 10:1126394-1126394 GRCh38: 10:1080454-1080454
16	WDR37	NM_014023.4(WDR37):c.386C>G (p.Ser129Cys)	SNV	Likely Pathogenic	633616	rs1589088702	GRCh37: 10:1126406-1126406 GRCh38: 10:1080466-1080466
17	WDR37	NM_014023.4(WDR37):c.356C>T (p.Ser119Phe)	SNV	Likely Pathogenic	633617	rs1589088690	GRCh37: 10:1126376-1126376 GRCh38: 10:1080436-1080436
18	WDR37	NM_014023.4(WDR37):c.389C>T (p.Thr130Ile)	SNV	Likely Pathogenic	633618	rs1589088703	GRCh37: 10:1126409-1126409 GRCh38: 10:1080469-1080469
19	TMEM67	NM_153704.6(TMEM67):c.1321C>T (p.Arg441Cys)	SNV	Likely Pathogenic	217725	rs752362727	GRCh37: 8:94798483-94798483 GRCh38: 8:93786255-93786255
20	CAPN15	NM_005632.2:c.2904+1_2905-45del	DEL	Likely Pathogenic	929503		GRCh37: GRCh38:
21	FZD5	NM_003468.4(FZD5):c.1081_1082insGAA (p.His361delinsArgAsn)	INSERT	Likely Pathogenic	694330	rs2091987023	GRCh37: 2:208632382-208632383 GRCh38: 2:207767658-207767659
22	FZD5	NM_003468.4(FZD5):c.1181_1246del (p.Asn394_Gly415del)	DEL	Likely Pathogenic	694331	rs2091986259	GRCh37: 2:208632218-208632283 GRCh38: 2:207767494-207767559
23	CDON	NM_001378964.1(CDON):c.622C>T (p.Arg208Ter)	SNV	Likely Pathogenic	637955	rs767611891	GRCh37: 11:125888243-125888243 GRCh38: 11:126018348-126018348
24	BFSP1	NM_001195.5(BFSP1):c.776G>C (p.Cys259Ser)	SNV	Uncertain Significance	68471	rs557601555	GRCh37: 20:17479645-17479645 GRCh38: 20:17499000-17499000
25	SLC16A12	NM_213606.4(SLC16A12):c.472T>C (p.Ser158Pro)	SNV	Uncertain Significance	68476	rs150800688	GRCh37: 10:91198917-91198917 GRCh38: 10:89439160-89439160
26	ABCB6	NM_005689.4(ABCB6):c.2000G>C (p.Gly667Ala)	SNV	Uncertain Significance	916022	rs1377097612	GRCh37: 2:220075799-220075799 GRCh38: 2:219211077-219211077
27	CDK5RAP2	NM_018249.6(CDK5RAP2):c.1772G>A (p.Arg591Gln)	SNV	Uncertain Significance	374241	rs749612238	GRCh37: 9:123234112-123234112 GRCh38: 9:120471834-120471834
28	CYP1B1	NM_000104.4(CYP1B1):c.685G>A (p.Glu229Lys)	SNV	Uncertain Significance	68467	rs57865060	GRCh37: 2:38301847-38301847 GRCh38: 2:38074704-38074704
29	BFSP1	NM_001195.5(BFSP1):c.1995_1996del (p.Ter666LysextTer?)	DEL	Uncertain Significance	68470	rs548358901	GRCh37: 20:17474721-17474722 GRCh38: 20:17494076-17494077
30	ABCB6	NM_005689.4(ABCB6):c.575G>A (p.Arg192Gln)	SNV	Uncertain Significance	68473	rs150221689	GRCh37: 2:220082504-220082504 GRCh38: 2:219217782-219217782
31	CILK1	NM_014920.5(CILK1):c.1344-4T>A	SNV	Uncertain Significance	809946	rs370955882	GRCh37: 6:52876719-52876719 GRCh38: 6:53011921-53011921
32	CILK1	NM_014920.5(CILK1):c.304A>C (p.Ile102Leu)	SNV	Uncertain Significance	809949	rs748539319	GRCh37: 6:52895917-52895917 GRCh38: 6:53031119-53031119
33	overlap with 24 genes	GRCh37/hg19 10q25.3-26.12(chr10:118891670-122349064)x1	CN LOSS	Uncertain Significance	1330213		GRCh37: 10:118891670-122349064 GRCh38:
34	CYP1B1	NM_000104.4(CYP1B1):c.1103G>A (p.Arg368His)	SNV	Uncertain Significance	7739	rs79204362	GRCh37: 2:38298394-38298394 GRCh38: 2:38071251-38071251
35	CYP1B1	NM_000104.4(CYP1B1):c.241T>A (p.Tyr81Asn)	SNV	Uncertain Significance	7744	rs9282671	GRCh37: 2:38302291-38302291 GRCh38: 2:38075148-38075148
36	CYP1B1	NM_000104.4(CYP1B1):c.868dup (p.Arg290fs)	DUP	Uncertain Significance	68468	rs587778875	GRCh37: 2:38301663-38301664 GRCh38: 2:38074520-38074521
37	ABCB6	NM_005689.4(ABCB6):c.1511T>C (p.Val504Ala)	SNV	Benign	1283915		GRCh37: 2:220078615-220078615 GRCh38: 2:219213893-219213893

Copy number variations for Coloboma of Macula from CNVD:

⁶

#	CNVD ID	Chromosome	Start	End	Type	Gene Symbol	CNVD Disease
1	80271	13	88800000	93800000	Deletion		coloboma
2	81042	14	100400000	106368585	Deletion		Ocular coloboma

Sources

Expression for Coloboma of Macula

Search GEO for disease gene expression data for Coloboma of Macula.

Sources

Pathways for Coloboma of Macula

Pathways related to Coloboma of Macula according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	Ectoderm differentiation ⁷⁴	11.28	PAX6 FZD5 CDON
2	Mesodermal commitment pathway ⁷⁴	11.19	YAP1 RARB PAX6 FZD5 ELP4
3	Noncanonical Wnt signaling pathway ⁶¹	10.57	FZD5 CHD7

Sources

GO Terms for Coloboma of Macula

Biological processes related to Coloboma of Macula according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	positive regulation of transcription by RNA polymerase II	GO:0045944	10.34	YAP1 SALL2 RARB PAX6 PAX2 FZD5
2	eye development	GO:0001654	9.8	PAX6 RBP4 SALL2
3	camera-type eye development	GO:0043010	9.67	PAX6 PAX2 CHD7
4	lens development in camera-type eye	GO:0002088	9.63	PAX6 CRYAA CDON
5	glandular epithelial cell differentiation	GO:0002067	9.58	YAP1 PAX6
6	embryonic retina morphogenesis in camera-type eye	GO:0060059	9.56	RBP4 CDON
7	regulation of metanephric nephron tubule epithelial cell differentiation	GO:0072307	9.26	YAP1 PAX2
8	regulation of neurogenesis	GO:0050767	9.02	YAP1 PAX6 CHD7

Sources

Sources for Coloboma of Macula

¹ BitterDB

² CDC

³ Cell Signaling Technology

⁴ ClinicalTrials

⁵ ClinVar

⁶ CNVD

⁷ Cochrane Library

⁸ Cosmic

⁹ dbSNP

¹⁰ DGIdb

¹¹ Disease Ontology

¹² diseasecard

¹³ DiseaseEnhancer

¹⁴ DISEASES

¹⁵ DrugBank

¹⁶ EFO

¹⁷ ExPASy

¹⁸ FMA

¹⁹ GARD

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ GenomeRNAi

²⁶ GEO DataSets

²⁷ GO

²⁸ GTR

²⁹ HMDB

³⁰ HPO

³¹ ICD10

³² ICD10 via Orphanet

³³ ICD11

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ LifeMap

³⁷ LncRNADisease

³⁸ LOVD

³⁹ MalaCards

⁴⁰ MedGen

⁴¹ MedlinePlus

⁴² MedlinePlus Genetics

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 NINDS

⁵³ Novoseek

⁵⁴ Novus Biologicals

⁵⁵ ODiseA

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 08-Dec-2022)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubChem

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ WikiPathways

⁷⁵ Wikipedia

MCID: CLB010 MIFTS: 54	Coloboma of Macula Categories: Eye diseases, Fetal diseases, Neuronal diseases, Rare diseases	Data Licensing For inquiries, contact: [email protected]
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