MCID: CLB010
MIFTS: 41

Coloboma of Macula

Categories: Rare diseases, Eye diseases, Fetal diseases

Aliases & Classifications for Coloboma of Macula

MalaCards integrated aliases for Coloboma of Macula:

Name: Coloboma of Macula 57 12 76 53 59
Coloboma 12 25 55 6 44 15
Congenital Ocular Coloboma 12 25 29 6
Microphthalmia, Isolated, with Coloboma 25 29 40
Hereditary Macular Coloboma 53 73
Agenesis of Macula 57 53
Ocular Coloboma 25 37
Uveoretinal Coloboma 25
Macular Coloboma 53
Coloboma of Eye 12

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
coloboma of macula:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 120300
Disease Ontology 12 DOID:12270
ICD10 33 Q13.0
MeSH 44 D003103
NCIt 50 C98877
SNOMED-CT 68 92828000 93390002
Orphanet 59 ORPHA98945
ICD10 via Orphanet 34 Q14.8
MedGen 42 C1852767
KEGG 37 H01114
SNOMED-CT via HPO 69 263681008

Summaries for Coloboma of Macula

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 98945Disease definitionColoboma 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.Visit the Orphanet disease page for more resources.

MalaCards based summary : Coloboma of Macula, also known as coloboma, is related to coloboma of optic nerve and coloboma of iris. An important gene associated with Coloboma of Macula is PAX6 (Paired Box 6), and among its related pathways/superpathways are Mesodermal Commitment Pathway and Ectoderm Differentiation. Affiliated tissues include eye, retina and brain, and related phenotypes are macular coloboma and iris coloboma

Genetics Home Reference : 25 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.

Disease Ontology : 12 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 : 76 A coloboma (from the Greek koloboma, meaning defect) is a hole in one of the structures of the eye, such... more...

Description 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 all 34)
# Related Disease Score Top Affiliating Genes
1 coloboma of optic nerve 34.8 ABCB6 FZD5 PAX6 SALL2
2 coloboma of iris 34.6 PAX6 TMEM67
3 coloboma of eye lens 34.5 ABCB6 FZD5 PAX6 SALL2
4 microphthalmia, isolated, with coloboma 6 34.4 GDF3 GDF6
5 papillorenal syndrome 34.3 PAX2 PAX6
6 coloboma, ocular, autosomal dominant 34.1 ABCB6 CYP1B1 FIBP FZD5 PAX6 RBP4
7 coloboma of macula with type b brachydactyly 12.5
8 retinochoroidal coloboma 12.2
9 nasopalpebral lipoma-coloboma syndrome 12.2
10 coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation 12.2
11 coloboma, congenital heart disease, ichthyosiform dermatosis, mental retardation, and ear anomalies syndrome 12.2
12 coloboma of macula and skeletal anomalies 12.1
13 coloboma, ocular, autosomal recessive 12.1
14 coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness 12.1
15 microphthalmia, isolated, with coloboma 5 12.1
16 microphthalmia, isolated, with coloboma 3 12.1
17 retinal dystrophy, iris coloboma, and comedogenic acne syndrome 12.1
18 corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome 12.1
19 corpus callosum, agenesis of, with mental retardation, ocular coloboma, and micrognathia 12.1
20 microphthalmia, isolated, with coloboma 7 12.1
21 microphthalmia, isolated, with coloboma 9 12.1
22 microphthalmia/coloboma and skeletal dysplasia syndrome 12.1
23 microphthalmia, isolated, with coloboma 10 12.1
24 hypercalcinuria macular coloboma 12.0
25 hypomagnesemia 5, renal, with ocular involvement 11.3
26 anterior segment dysgenesis 5 11.0 CYP1B1 PAX6
27 isolated klippel-feil syndrome 10.9 GDF3 GDF6
28 scleral staphyloma 10.9 PAX2 PAX6
29 coloboma of eyelid 10.9 ABCB6 FZD5 PAX6 SALL2
30 congenital aphakia 10.6 PAX2 PAX6
31 colobomatous microphthalmia 10.6 ABCB6 GDF3 GDF6 MCOPCB1 MCOPCB2 RBP4
32 trehalase deficiency 10.4 CHD7 PAX2 PAX6 PUF60 TMEM67
33 klippel-feil syndrome 10.3 GDF3 GDF6
34 microphthalmia 10.0 ABCB6 GDF3 GDF6 MCOPCB1 MCOPCB2 MFRP

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



Diseases related to Coloboma of Macula

Symptoms & Phenotypes for Coloboma of Macula

Symptoms via clinical synopsis from OMIM:

57
Eyes:
agenesis of macula
coloboma of macula


Clinical features from OMIM:

120300

Human phenotypes related to Coloboma of Macula:

32
# Description HPO Frequency HPO Source Accession
1 macular coloboma 32 HP:0001116
2 iris coloboma 32 hallmark (90%) HP:0000612

MGI Mouse Phenotypes related to Coloboma of Macula:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.1 PAX2 ABCB6 CHD7 GDF3 PAX6 RBP4
2 mortality/aging MP:0010768 9.97 ABCB6 CHD7 FZD5 GDF3 GDF6 PAX2
3 embryo MP:0005380 9.91 PAX6 SALL2 SNAP25 TMEM67 YAP1 CHD7
4 digestive/alimentary MP:0005381 9.87 CHD7 FZD5 PAX6 TMEM67 VAX1 VAX2
5 craniofacial MP:0005382 9.85 CHD7 GDF6 PAX6 TMEM67 VAX1 VAX2
6 nervous system MP:0003631 9.73 CHD7 FZD5 GDF6 MFRP PAX2 PAX6
7 vision/eye MP:0005391 9.36 CHD7 CYP1B1 FZD5 GDF6 MFRP PAX2

Drugs & Therapeutics for Coloboma of Macula

Search Clinical Trials , 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 29 PAX6
2 Microphthalmia, Isolated, with Coloboma 29

Anatomical Context for Coloboma of Macula

MalaCards organs/tissues related to Coloboma of Macula:

41
Eye, Retina, Brain

Publications for Coloboma of Macula

Articles related to Coloboma of Macula:

# Title Authors Year
1
Severe congenital ocular coloboma. ( 25574330 )
2014

Variations for Coloboma of Macula

ClinVar genetic disease variations for Coloboma of Macula:

6
(show all 16)
# Gene Variation Type Significance SNP ID Assembly Location
1 TMEM67 NM_153704.5(TMEM67): c.1843T> C (p.Cys615Arg) single nucleotide variant Pathogenic/Likely pathogenic rs201893408 GRCh37 Chromosome 8, 94808198: 94808198
2 TMEM67 NM_153704.5(TMEM67): c.1843T> C (p.Cys615Arg) single nucleotide variant Pathogenic/Likely pathogenic rs201893408 GRCh38 Chromosome 8, 93795970: 93795970
3 PAX6 NM_000280.4(PAX6): c.773T> C (p.Phe258Ser) single nucleotide variant Pathogenic rs121907925 GRCh37 Chromosome 11, 31815343: 31815343
4 PAX6 NM_000280.4(PAX6): c.773T> C (p.Phe258Ser) single nucleotide variant Pathogenic rs121907925 GRCh38 Chromosome 11, 31793795: 31793795
5 CYP1B1 NM_000104.3(CYP1B1): c.868dupC (p.Arg290Profs) duplication Pathogenic rs587778875 GRCh37 Chromosome 2, 38301664: 38301664
6 CYP1B1 NM_000104.3(CYP1B1): c.868dupC (p.Arg290Profs) duplication Pathogenic rs587778875 GRCh38 Chromosome 2, 38074521: 38074521
7 YAP1 NM_001130145.2(YAP1): c.370C> T (p.Arg124Ter) single nucleotide variant Pathogenic rs587777249 GRCh38 Chromosome 11, 102114192: 102114192
8 YAP1 NM_001130145.2(YAP1): c.370C> T (p.Arg124Ter) single nucleotide variant Pathogenic rs587777249 GRCh37 Chromosome 11, 101984923: 101984923
9 FIBP NM_198897.1(FIBP): c.673C> T (p.Gln225Ter) single nucleotide variant Pathogenic/Likely pathogenic rs786204849 GRCh38 Chromosome 11, 65885181: 65885181
10 FIBP NM_198897.1(FIBP): c.673C> T (p.Gln225Ter) single nucleotide variant Pathogenic/Likely pathogenic rs786204849 GRCh37 Chromosome 11, 65652652: 65652652
11 TMEM67 NM_153704.5(TMEM67): c.1321C> T (p.Arg441Cys) single nucleotide variant Pathogenic/Likely pathogenic rs752362727 GRCh38 Chromosome 8, 93786255: 93786255
12 TMEM67 NM_153704.5(TMEM67): c.1321C> T (p.Arg441Cys) single nucleotide variant Pathogenic/Likely pathogenic rs752362727 GRCh37 Chromosome 8, 94798483: 94798483
13 CDK5RAP2 NM_018249.5(CDK5RAP2): c.1772G> A (p.Arg591Gln) single nucleotide variant Uncertain significance rs749612238 GRCh37 Chromosome 9, 123234112: 123234112
14 CDK5RAP2 NM_018249.5(CDK5RAP2): c.1772G> A (p.Arg591Gln) single nucleotide variant Uncertain significance rs749612238 GRCh38 Chromosome 9, 120471834: 120471834
15 RBP4 NM_006744.3(RBP4): c.394T> A (p.Tyr132Asn) single nucleotide variant Pathogenic GRCh38 Chromosome 10, 93593997: 93593997
16 RBP4 NM_006744.3(RBP4): c.394T> A (p.Tyr132Asn) single nucleotide variant Pathogenic GRCh37 Chromosome 10, 95353754: 95353754

Copy number variations for Coloboma of Macula from CNVD:

7
# CNVD ID Chromosom 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
Show member pathways
11.41 FZD5 GDF3 PAX6 YAP1
2 11.29 FZD5 PAX6 VAX2

GO Terms for Coloboma of Macula

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

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 multicellular organism development GO:0007275 9.97 FZD5 GDF3 GDF6 PAX2 PAX6 SALL2
2 central nervous system development GO:0007417 9.71 CHD7 PAX6 VAX1
3 axonogenesis GO:0007409 9.7 PAX2 PAX6 VAX2
4 retina development in camera-type eye GO:0060041 9.56 CHD7 MFRP PAX6 VAX2
5 cell fate determination GO:0001709 9.51 PAX2 PAX6
6 regulation of neurogenesis GO:0050767 9.5 CHD7 PAX6 YAP1
7 eye photoreceptor cell development GO:0042462 9.49 MFRP PAX6
8 embryonic camera-type eye morphogenesis GO:0048596 9.48 FZD5 PAX6
9 notochord development GO:0030903 9.46 GDF3 YAP1
10 eye development GO:0001654 9.46 GDF3 PAX6 RBP4 SALL2
11 dorsal/ventral axis specification GO:0009950 9.43 PAX6 VAX2
12 visual perception GO:0007601 9.43 CYP1B1 MFRP PAX2 PAX6 RBP4 VAX2
13 regulation of metanephric nephron tubule epithelial cell differentiation GO:0072307 9.4 PAX2 YAP1
14 camera-type eye development GO:0043010 9.02 CHD7 PAX2 PAX6 VAX1 VAX2
15 positive regulation of transcription by RNA polymerase II GO:0045944 10.02 CHD7 FZD5 PAX2 PAX6 SALL2 YAP1

Molecular functions related to Coloboma of Macula according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific DNA binding GO:0001227 9.33 PAX6 VAX1 VAX2
2 transcription regulatory region DNA binding GO:0044212 9.26 PAX2 PAX6 SALL2 YAP1
3 RNA polymerase II intronic transcription regulatory region sequence-specific DNA binding GO:0001162 8.62 VAX1 VAX2

Sources for Coloboma of Macula

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....