MCID: CLB010
MIFTS: 54

Coloboma of Macula

Categories: Eye diseases, Fetal diseases, Neuronal diseases, Rare diseases
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Aliases & Classifications for Coloboma of Macula

MalaCards integrated aliases for Coloboma of Macula:

Name: Coloboma of Macula 57 11 19 58 75 33
Coloboma 11 42 53 43 14 75
Congenital Ocular Coloboma 11 42 28 5
Microphthalmia, Isolated, with Coloboma 42 5 38
Hereditary Macular Coloboma 19 71
Agenesis of Macula 57 19
Ocular Coloboma 42 5
Uveoretinal Coloboma 42
Macular Coloboma 19
Coloboma of Eye 11

Characteristics:


Inheritance:

Autosomal dominant 57

Classifications:

Orphanet: 58  
Rare eye diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 11 DOID:12270
OMIM® 57 120300
MeSH 43 D003103
NCIt 49 C98877
SNOMED-CT 68 93390002
ICD10 31 Q13.0
ICD10 via Orphanet 32 Q14.8
Orphanet 58 ORPHA98945
MedGen 40 C1852767
ICD11 33 366058642
UMLS 71 C0009363 C1852767

Summaries for Coloboma of Macula

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

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:



Diseases related to Coloboma of Macula

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

Drugs & Therapeutics for Coloboma of Macula

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
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

Genetic Tests for Coloboma of Macula

Genetic tests related to Coloboma of Macula:

# Genetic test Affiliating Genes
1 Congenital Ocular Coloboma 28

Anatomical Context for Coloboma of Macula

Organs/tissues related to Coloboma of Macula:

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

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
26908622 2016
2
Heterozygous loss-of-function mutations in YAP1 cause both isolated and syndromic optic fissure closure defects. 62 5
24462371 2014
3
ABCB6 mutations cause ocular coloboma. 62 5
22226084 2012
4
[Linkage analysis of a Chinese family with autosomal dominant congenital retinaochoroidal coloboma]. 62 5
19504436 2009
5
Mutations of the PAX6 gene detected in patients with a variety of optic-nerve malformations. 62 5
12721955 2003
6
Hereditary macular coloboma. 62 57
4992343 1970
7
Bilateral "Macular Coloboma" in Mother and Son. 62 57
19986141 1927
8
Panel-based whole exome sequencing identifies novel mutations in microphthalmia and anophthalmia patients showing complex Mendelian inheritance patterns. 5
29178648 2017
9
Histology and synchrotron radiation-based microtomography of the inner ear in a molecularly confirmed case of CHARGE syndrome. 53 62
20186814 2010
10
Cardiac phenotyping in ex vivo murine embryos using microMRI. 53 62
19598179 2009
11
Genomic distribution of CHD7 on chromatin tracks H3K4 methylation patterns. 53 62
19251738 2009
12
Ectopic Pax2 expression in chick ventral optic cup phenocopies loss of Pax2 expression. 53 62
18485342 2008
13
A clinico-genetic study of renal coloboma syndrome in children. 53 62
17541647 2007
14
Renal hypoplasia without optic coloboma associated with PAX2 gene deletion. 53 62
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
17269592 2007
16
[Molecular diagnosis of CHARGE syndrom]. 53 62
17280632 2007
17
Multicystic dysplastic kidney and variable phenotype in a family with a novel deletion mutation of PAX2. 53 62
16049068 2005
18
Norepinephrine regulates locomotor hyperactivity in the mouse mutant coloboma. 53 62
12759129 2003
19
Novel mutation in sonic hedgehog in non-syndromic colobomatous microphthalmia. 53 62
12503095 2003
20
[Renal-coloboma syndrome]. 53 62
12410411 2002
21
National study of microphthalmia, anophthalmia, and coloboma (MAC) in Scotland: investigation of genetic aetiology. 53 62
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
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
10587573 2000
24
Renal-coloboma syndrome: a multi-system developmental disorder caused by PAX2 mutations. 53 62
10466411 1999
25
The prevalence of PAX2 mutations in patients with isolated colobomas or colobomas associated with urogenital anomalies. 53 62
9783702 1998
26
Effects of PAX2 expression in a human fetal kidney (HEK293) cell line. 53 62
9459485 1998
27
Pax genes and organogenesis. 53 62
9297966 1997
28
Dominant inheritance of optic pits. 53 62
9222245 1997
29
Genomic structure of the human PAX2 gene. 53 62
8661132 1996
30
A Novel Surgical Method of Reconstruction for Proboscis Lateralis: A Case Report and Review of the Literature. 62
34755550 2023
31
4D printed orbital stent for the treatment of enophthalmic invagination. 62
36356472 2022
32
Pseudo second anterior lens capsule during post-vitrectomy cataract surgery: A case report. 62
36111278 2022
33
CONGENITAL POSTERIOR POLAR CHORIORETINAL HYPOPLASIA: Expansion of the Clinical Spectrum, Mutation, and Its Association With PRDM13. 62
36007168 2022
34
ARHGAP35 is a novel factor disrupted in human developmental eye phenotypes. 62
36450800 2022
35
[Double optic disc: True duplication or coloboma?] 62
36307345 2022
36
Novel Compound Heterozygous Variations in MPDZ Gene Caused Isolated Bilateral Macular Coloboma in a Chinese Family. 62
36429029 2022
37
Identification of causative gene mutation in an Iranian family with coloboma and nephropathy using whole exome sequencing. 62
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
36064004 2022
39
Zfp503/Nlz2 Is Required for RPE Differentiation and Optic Fissure Closure. 62
36326727 2022
40
Variants in HNRNPH1 are associated with high myopia in humans and ocular coloboma in zebrafish. 62
35989590 2022
41
c-Jun N-terminal kinase 1 (JNK1) phosphorylates OTX2 transcription factor that regulates early retinal development. 62
36434388 2022
42
Chromatin remodeler Chd7 regulates photoreceptor development and outer segment length. 62
36343670 2022
43
Evaluation of somatic and/or germline mosaicism in congenital malformation of the eye. 62
36404347 2022
44
Phenotypic and Molecular Heterogeneity in Mandibulofacial Dysostoses: A Case Series From India. 62
34714179 2022
45
Cell fate decisions, transcription factors and signaling during early retinal development. 62
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
36048466 2022
47
A primary DICER1-sarcoma with KRAS and TP53 mutations in a child with suspected ECCL. 62
35668302 2022
48
Real-world clinical and molecular management of 50 prospective patients with microphthalmia, anophthalmia and/or ocular coloboma. 62
36192130 2022
49
EPHA2 biallelic disruption causes syndromic complex microphthalmia with iris hypoplasia. 62
35918037 2022
50
A New Case and Comprehensive Review of the Ophthalmic Manifestations of 172 Individuals With Branchio-Oculo-Facial Syndrome. 62
36263936 2022

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

Expression for Coloboma of Macula

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

Pathways for Coloboma of Macula

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

# Super pathways Score Top Affiliating Genes
1 11.28 PAX6 FZD5 CDON
2 11.19 YAP1 RARB PAX6 FZD5 ELP4
3 10.57 FZD5 CHD7

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 for Coloboma of Macula

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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