MAC
MCID: CLB026
MIFTS: 48

Colobomatous Microphthalmia (MAC)

Categories: Eye diseases, Fetal diseases, Mental diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Colobomatous Microphthalmia

MalaCards integrated aliases for Colobomatous Microphthalmia:

Name: Colobomatous Microphthalmia 58 29 6
Anophthalmia-Microphthalmia Syndrome 58 29 6
Microphthalmia-Anophthalmia-Coloboma Syndrome 58
Microphthalmia with Colobomatous Cyst 58
Microphthalmia-Anophthalmia-Coloboma 58
Microphthalmia and Mental Deficiency 70
Mac 58

Characteristics:

Orphanet epidemiological data:

58
colobomatous microphthalmia
Inheritance: Autosomal dominant,Autosomal recessive;
microphthalmia-anophthalmia-coloboma
Inheritance: Autosomal dominant,Autosomal recessive,X-linked recessive; Prevalence: 1-9/100000 (Europe),1-9/100000 (Belgium),1-9/100000 (Austria),1-5/10000 (Denmark),1-9/100000 (France),1-9/100000 (Germany),1-5/10000 (Hungary),1-9/100000 (Ireland),1-5/10000 (Italy),1-5/10000 (Malta),1-5/10000 (Netherlands),1-9/100000 (Norway),1-9/100000 (Poland),1-5/10000 (Croatia),1-5/10000 (Spain),1-5/10000 (Switzerland),1-9/100000 (United Kingdom),1-5/10000 (Ukraine),1-9/100000 (Portugal),1-5/10000 (United States); Age of onset: Infancy,Neonatal; Age of death: normal life expectancy;

Classifications:

Orphanet: 58  
Rare eye diseases
Developmental anomalies during embryogenesis


External Ids:

ICD10 via Orphanet 33 Q11.0 Q11.1 Q11.2
UMLS via Orphanet 71 C2931501
UMLS 70 C2931500

Summaries for Colobomatous Microphthalmia

MalaCards based summary : Colobomatous Microphthalmia, also known as anophthalmia-microphthalmia syndrome, is related to microphthalmia, isolated, with coloboma 6 and microphthalmia, syndromic 9. An important gene associated with Colobomatous Microphthalmia is SHH (Sonic Hedgehog Signaling Molecule), and among its related pathways/superpathways are Mesodermal Commitment Pathway and Ectoderm Differentiation. Affiliated tissues include eye, heart and liver, and related phenotypes are cellular and mortality/aging

Related Diseases for Colobomatous Microphthalmia

Diseases related to Colobomatous Microphthalmia via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 512)
# Related Disease Score Top Affiliating Genes
1 microphthalmia, isolated, with coloboma 6 32.3 GDF6 GDF3
2 microphthalmia, syndromic 9 32.1 VSX2 STRA6 RBP4 GDF6
3 fryns microphthalmia syndrome 30.3 VSX2 PAX6 OTX2 HESX1
4 isolated microphthalmia 30.2 VSX2 STRA6 OTX2 GDF6 CRYBA4
5 nanophthalmos 29.9 VSX2 PAX6 OTX2
6 holoprosencephaly 29.7 SHH PITX2 PAX6 PAX2 OTX2 HESX1
7 intraocular pressure quantitative trait locus 29.6 PITX2 PAX6 BMP4
8 peters-plus syndrome 29.3 VSX2 STRA6 PITX3 PITX2 PAX6 BMP4
9 aniridia 1 29.1 VSX2 PITX3 PITX2 PAX6 PAX2 OTX2
10 cataract 29.1 VSX2 PITX3 PITX2 PAX6 OTX2 NHS
11 coloboma of macula 28.9 VSX2 TENM3 STRA6 SHH RBP4 PITX3
12 microphthalmia 28.9 VSX2 TENM3 STRA6 SHH RBP4 PITX3
13 anterior segment dysgenesis 28.8 VSX2 TENM3 STRA6 PITX3 PITX2 PAX6
14 microphthalmia, syndromic 13 11.7
15 microphthalmia/coloboma and skeletal dysplasia syndrome 11.5
16 mycobacterium avium complex infections 11.5
17 microphthalmia, isolated, with coloboma 4 11.4
18 macs syndrome 11.3
19 syndromic microphthalmia-anophthalmia-coloboma 11.3
20 focal dermal hypoplasia 11.2
21 hypocomplementemic urticarial vasculitis 11.2
22 microphthalmia, isolated, with coloboma 3 11.2
23 microphthalmia, isolated, with coloboma 5 11.2
24 microphthalmia, isolated, with coloboma 9 11.2
25 coloboma-obesity-hypogenitalism-mental retardation syndrome 11.1
26 microphthalmia, isolated, with coloboma 7 11.1
27 complement component 9 deficiency 11.1
28 macdermot-winter syndrome 11.0
29 membranoproliferative glomerulonephritis 10.9
30 fibrosis of extraocular muscles, congenital, 1 10.4
31 tooth size 10.4 SHH BMP4
32 coloboma of eyelid 10.4 PAX6 ABCB6
33 coloboma of eye lens 10.4 PAX6 ABCB6
34 medullomyoblastoma 10.4 SHH OTX2
35 nodular medulloblastoma 10.4 SHH OTX2
36 microphthalmia, isolated 1 10.4 VSX2 CRYBA4
37 congenital aphakia 10.4 VSX2 PAX6
38 hepatitis 10.4
39 combined pituitary hormone deficiencies, genetic forms 10.4 OTX2 HESX1
40 hepatocellular carcinoma 10.4
41 spastic ataxia 8 10.4 PAX6 OTX2
42 nystagmus 7, congenital, autosomal dominant 10.3 PAX6 ABCB6
43 isolated klippel-feil syndrome 10.3 GDF6 GDF3
44 hypervitaminosis a 10.3 STRA6 RBP4
45 pancreas, annular 10.3 STRA6 SHH
46 macular degeneration, age-related, 7 10.3 PAX6 OTX2
47 coloboma, ocular, autosomal dominant 10.3 RBP4 PAX6 ABCB6
48 orofacial cleft 11 10.3 CRYBA4 BMP4
49 hepatitis b 10.3
50 lens subluxation 10.3 VSX2 PAX6 CRYBA4

Graphical network of the top 20 diseases related to Colobomatous Microphthalmia:



Diseases related to Colobomatous Microphthalmia

Symptoms & Phenotypes for Colobomatous Microphthalmia

MGI Mouse Phenotypes related to Colobomatous Microphthalmia:

46 (show all 17)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.37 ABCB6 BMP4 DACH1 GDF3 IKBKG OTX2
2 mortality/aging MP:0010768 10.35 ABCB6 BMP4 DACH1 GDF3 GDF6 HESX1
3 nervous system MP:0003631 10.3 BMP4 DACH1 GDF6 HESX1 OTX2 PAX2
4 endocrine/exocrine gland MP:0005379 10.29 BMP4 DACH1 HESX1 IKBKG OTX2 PAX2
5 cardiovascular system MP:0005385 10.27 BMP4 IKBKG OTX2 PAX2 PAX6 PITX2
6 embryo MP:0005380 10.22 BMP4 DACH1 GDF3 HESX1 OTX2 PAX2
7 craniofacial MP:0005382 10.15 BMP4 GDF6 HESX1 OTX2 PAX6 PITX2
8 digestive/alimentary MP:0005381 10.08 BMP4 IKBKG OTX2 PAX6 PITX2 RBP4
9 normal MP:0002873 10.06 BMP4 GDF3 HESX1 IKBKG OTX2 PAX6
10 hearing/vestibular/ear MP:0005377 10.04 BMP4 GDF6 HESX1 OTX2 PAX2 PAX6
11 pigmentation MP:0001186 10.02 IKBKG OTX2 PAX2 PAX6 PITX2 PITX3
12 reproductive system MP:0005389 10.02 BMP4 IKBKG OTX2 PAX2 PAX6 PITX2
13 no phenotypic analysis MP:0003012 9.98 BMP4 NHS PITX2 PITX3 SHH STRA6
14 respiratory system MP:0005388 9.86 BMP4 DACH1 HESX1 OTX2 PAX6 PITX2
15 skeleton MP:0005390 9.81 BMP4 DACH1 GDF6 OTX2 PAX6 PITX2
16 vision/eye MP:0005391 9.44 BMP4 GDF6 HESX1 NHS OTX2 PAX2
17 taste/olfaction MP:0005394 9.26 HESX1 OTX2 PAX6 SHH

Drugs & Therapeutics for Colobomatous Microphthalmia

Search Clinical Trials , NIH Clinical Center for Colobomatous Microphthalmia

Genetic Tests for Colobomatous Microphthalmia

Genetic tests related to Colobomatous Microphthalmia:

# Genetic test Affiliating Genes
1 Anophthalmia-Microphthalmia Syndrome 29 BMP4 CRYBA4 DACH1 GATD3A HESX1 IKBKG NHS OTX2 PAX2 PAX6 PITX2 PITX3 PORCN RAX SIX3 TFAP2A VAX1
2 Colobomatous Microphthalmia 29

Anatomical Context for Colobomatous Microphthalmia

MalaCards organs/tissues related to Colobomatous Microphthalmia:

40
Eye, Heart, Liver, Lung, Brain, Kidney, Myeloid

Publications for Colobomatous Microphthalmia

Articles related to Colobomatous Microphthalmia:

(show top 50) (show all 52)
# Title Authors PMID Year
1
Homozygous null mutation in ODZ3 causes microphthalmia in humans. 6 61
22766609 2012
2
Novel mutation in sonic hedgehog in non-syndromic colobomatous microphthalmia. 6 61
12503095 2003
3
Targeted resequencing identifies PTCH1 as a major contributor to ocular developmental anomalies and extends the SOX2 regulatory network. 6
26893459 2016
4
Biochemical Basis for Dominant Inheritance, Variable Penetrance, and Maternal Effects in RBP4 Congenital Eye Disease. 6
25910211 2015
5
Molecular findings and clinical data in a cohort of 150 patients with anophthalmia/microphthalmia. 6
24033328 2014
6
Otocephaly-Dysgnathia Complex: Description of Four Cases and Confirmation of the Role of OTX2. 6
24167467 2013
7
Contribution of growth differentiation factor 6-dependent cell survival to early-onset retinal dystrophies. 6
23307924 2013
8
ABCB6 mutations cause ocular coloboma. 6
22226084 2012
9
Sonic hedgehog mutations are an uncommon cause of developmental eye anomalies. 6
20425842 2010
10
Mutation of the bone morphogenetic protein GDF3 causes ocular and skeletal anomalies. 6
19864492 2010
11
[Linkage analysis of a Chinese family with autosomal dominant congenital retinaochoroidal coloboma]. 6
19504436 2009
12
Novel heterozygous OTX2 mutations and whole gene deletions in anophthalmia, microphthalmia and coloboma. 6
18781617 2008
13
Molecular dissection reveals decreased activity and not dominant negative effect in human OTX2 mutants. 6
16607563 2006
14
CHX10 mutations cause non-syndromic microphthalmia/ anophthalmia in Arab and Jewish kindreds. 6
15257456 2004
15
The mutational spectrum of the sonic hedgehog gene in holoprosencephaly: SHH mutations cause a significant proportion of autosomal dominant holoprosencephaly. 6
10556296 1999
16
Compound heterozygous splicing CDON variants result in isolated ocular coloboma. 61
32729136 2020
17
Homozygous frameshift mutations in FAT1 cause a syndrome characterized by colobomatous-microphthalmia, ptosis, nephropathy and syndactyly. 61
30862798 2019
18
Sequence variations in TENM3 gene causing eye anomalies with intellectual disability: Expanding the phenotypic spectrum. 61
29753094 2019
19
Confirmation of TENM3 involvement in autosomal recessive colobomatous microphthalmia. 61
27103084 2016
20
Bosma arhinia microphthalmia syndrome: Clinical report and review of the literature. 61
26842768 2016
21
A Case of Anterior Segment Dysgenesis with Iridolenticular Adhesions in Trisomy 18. 61
27617135 2015
22
Rare ocular features in a case of Kabuki syndrome (Niikawa-Kuroki syndrome). 61
25421742 2014
23
Identification of an HMGB3 frameshift mutation in a family with an X-linked colobomatous microphthalmia syndrome using whole-genome and X-exome sequencing. 61
24993872 2014
24
Monoallelic and biallelic mutations in MAB21L2 cause a spectrum of major eye malformations. 61
24906020 2014
25
[Colobomatous microphthalmia]. 61
25328604 2014
26
Mutations in c12orf57 cause a syndromic form of colobomatous microphthalmia. 61
23453665 2013
27
Mutations in the LHX2 gene are not a frequent cause of micro/anophthalmia. 61
21203406 2010
28
Anophthalmia-esophageal atresia syndrome caused by an SOX2 gene deletion in monozygotic twin brothers with markedly discordant phenotypes. 61
16892407 2006
29
Optic disc coloboma and localized chorioretinal defects in constitutional partial trisomy 8 mosaicism. 61
17050287 2006
30
Molecular screening of SHH, ZIC2, SIX3, and TGIF genes in patients with features of holoprosencephaly spectrum: Mutation review and genotype-phenotype correlations. 61
15221788 2004
31
Physical and transcript map of the autosomal dominant colobomatous microphthalmia locus on chromosome 15q12-q15 and refinement to a 4.4 Mb region. 61
15083168 2004
32
[Genetic study of holoprosencephaly]. 61
14711609 2003
33
Genetic heterogeneity of syndromic X-linked recessive microphthalmia-anophthalmia: is Lenz microphthalmia a single disorder? 61
12116202 2002
34
Colobomatous microphthalmia and orbital neuroglial cyst: case report. 61
11910557 2002
35
Combination of diaphragmatic eventration and microphthalmia/anophthalmia is probably nonrandom. 61
11857549 2002
36
Genetic mapping of a novel X-linked recessive colobomatous microphthalmia. 61
11391653 2001
37
A locus for autosomal dominant colobomatous microphthalmia maps to chromosome 15q12-q15. 61
11035633 2000
38
Colobomatous microphthalmia, microcephaly with cerebellar hypoplasia: association or new syndrome? 61
10842296 2000
39
Microcephaly, colobomatous microphthalmia, short stature, and severe psychomotor retardation in two male cousins: a new MCA/MR syndrome? 61
10190477 1999
40
Coloboma, mental retardation, hypogonadism, and obesity: critical review of the so-called Biemond syndrome type 2, updated nosology, and delineation of three "new" syndromes. 61
9098485 1997
41
Colobomatous microphthalmia with midfacial clefting: part of the spectrum of branchio-oculo-facial syndrome? 61
8832722 1996
42
Hereditary disorders among Iranian Jews. 61
7573153 1995
43
Autosomal recessive colobomatous microphthalmia. 61
8209881 1994
44
A sporadic case of Lenz microphthalmia syndrome. 61
8297071 1993
45
Peters' anomaly and associated congenital malformations. 61
1463415 1992
46
The prenatal development of the optic fissure in colobomatous microphthalmia. 61
1869414 1991
47
The optic fissure in the normal and microphthalmic mouse. 61
2767170 1989
48
[Partial trisomy 1 (1q31-41) caused by intrachromosomal insertion in 1p31.3 in a newborn infant and a sister of the mother]. 61
3437908 1987
49
Complicated colobomatous microphthalmia in the microphthalmic (mi/mi) mouse. 61
3665767 1987
50
Colobomatous macrophthalmia with microcornea. 61
6545385 1984

Variations for Colobomatous Microphthalmia

ClinVar genetic disease variations for Colobomatous Microphthalmia:

6 (show top 50) (show all 392)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SHH SHH, 24-BP DEL, NT1353 Deletion Pathogenic 8892 GRCh37:
GRCh38:
2 VSX2 CHX10, IVS1, G-A, -1 SNV Pathogenic 14864 GRCh37:
GRCh38:
3 GDF6 NM_001001557.4(GDF6):c.595G>A (p.Ala199Thr) SNV Pathogenic 30159 rs387906794 GRCh37: 8:97157564-97157564
GRCh38: 8:96145336-96145336
4 ABCB6 NM_005689.4(ABCB6):c.2431C>G (p.Leu811Val) SNV Pathogenic 30482 rs387906910 GRCh37: 2:220074758-220074758
GRCh38: 2:219210036-219210036
5 ABCB6 NM_005689.4(ABCB6):c.169G>A (p.Ala57Thr) SNV Pathogenic 30483 rs387906911 GRCh37: 2:220083227-220083227
GRCh38: 2:219218505-219218505
6 GDF3 NM_020634.3(GDF3):c.796C>T (p.Arg266Cys) SNV Pathogenic 30591 rs140926412 GRCh37: 12:7842773-7842773
GRCh38: 12:7690177-7690177
7 GDF3 NM_020634.3(GDF3):c.820C>T (p.Arg274Trp) SNV Pathogenic 30594 rs387906946 GRCh37: 12:7842749-7842749
GRCh38: 12:7690153-7690153
8 TENM3 NM_001080477.4(TENM3):c.2083dup (p.Thr695fs) Duplication Pathogenic 41420 rs587776950 GRCh37: 4:183609365-183609366
GRCh38: 4:182688212-182688213
9 RBP4 NM_006744.4(RBP4):c.223G>A (p.Ala75Thr) SNV Pathogenic 192376 rs794726861 GRCh37: 10:95360449-95360449
GRCh38: 10:93600692-93600692
10 RBP4 NM_006744.4(RBP4):c.217G>A (p.Ala73Thr) SNV Pathogenic 192377 rs794726862 GRCh37: 10:95360455-95360455
GRCh38: 10:93600698-93600698
11 STRA6 NM_022369.4(STRA6):c.1313A>G (p.Gln438Arg) SNV Pathogenic 221966 rs869025269 GRCh37: 15:74474789-74474789
GRCh38: 15:74182448-74182448
12 VSX2 NM_182894.3(VSX2):c.667G>A (p.Gly223Arg) SNV Pathogenic 221963 rs755799430 GRCh37: 14:74726392-74726392
GRCh38: 14:74259689-74259689
13 STRA6 NM_022369.4(STRA6):c.1913G>C (p.Arg638Pro) SNV Pathogenic 221967 rs144691445 GRCh37: 15:74472512-74472512
GRCh38: 15:74180171-74180171
14 PAX6 NM_001604.5(PAX6):c.192C>A (p.Asn64Lys) SNV Pathogenic 167417 rs727504064 GRCh37: 11:31823316-31823316
GRCh38: 11:31801768-31801768
15 STRA6 NM_022369.4(STRA6):c.1735C>G (p.Pro579Ala) SNV Pathogenic 221927 rs372931895 GRCh37: 15:74473228-74473228
GRCh38: 15:74180887-74180887
16 VSX2 NM_182894.3(VSX2):c.71dup (p.Ala25fs) Duplication Pathogenic 221962 rs869025268 GRCh37: 14:74706329-74706330
GRCh38: 14:74239626-74239627
17 TENM3 NM_001080477.4(TENM3):c.1558C>T (p.Arg520Ter) SNV Pathogenic 638054 rs919662130 GRCh37: 4:183601421-183601421
GRCh38: 4:182680268-182680268
18 OTX2 NC_000014.9:g.(?_56801715)_(56804383_?)del Deletion Pathogenic 647944 GRCh37: 14:57268433-57271101
GRCh38: 14:56801715-56804383
19 OTX2 NM_021728.4(OTX2):c.596del (p.Gly199fs) Deletion Pathogenic 842588 GRCh37: 14:57268751-57268751
GRCh38: 14:56802033-56802033
20 TENM3 NM_001080477.4(TENM3):c.5254C>T (p.Arg1752Ter) SNV Pathogenic 1031796 GRCh37: 4:183696256-183696256
GRCh38: 4:182775103-182775103
21 VSX2 NM_182894.3(VSX2):c.598C>T (p.Arg200Ter) SNV Pathogenic 1034416 GRCh37: 14:74726323-74726323
GRCh38: 14:74259620-74259620
22 OTX2 NM_021728.4(OTX2):c.632C>A (p.Ser211Ter) SNV Likely pathogenic 945360 GRCh37: 14:57268715-57268715
GRCh38: 14:56801997-56801997
23 C12orf57 NM_138425.4(C12orf57):c.1A>G (p.Met1Val) SNV Likely pathogenic 41942 rs587776954 GRCh37: 12:7053285-7053285
GRCh38: 12:6944122-6944122
24 VSX2 NM_182894.3(VSX2):c.599G>C (p.Arg200Pro) SNV Likely pathogenic 14861 rs121912543 GRCh37: 14:74726324-74726324
GRCh38: 14:74259621-74259621
25 RBP4 NM_006744.4(RBP4):c.569-1G>A SNV Likely pathogenic 929566 GRCh37: 10:95351870-95351870
GRCh38: 10:93592113-93592113
26 OTX2 NC_000014.9:g.(?_56801715)_(56802375_?)del Deletion Likely pathogenic 663960 GRCh37: 14:57268433-57269093
GRCh38: 14:56801715-56802375
27 SHH NM_000193.4(SHH):c.1102G>T (p.Glu368Ter) SNV Likely pathogenic 666320 rs753315599 GRCh37: 7:155595881-155595881
GRCh38: 7:155803187-155803187
28 OTX2 NM_021728.4(OTX2):c.730G>T (p.Ala244Ser) SNV Likely pathogenic 641871 rs1594952158 GRCh37: 14:57268617-57268617
GRCh38: 14:56801899-56801899
29 WNT7B NM_058238.3(WNT7B):c.739C>T (p.Arg247Trp) SNV Likely pathogenic 437886 rs1475762618 GRCh37: 22:46319047-46319047
GRCh38: 22:45923167-45923167
30 TENM3 NM_001080477.4(TENM3):c.7687C>T (p.Arg2563Trp) SNV Likely pathogenic 487482 rs755000701 GRCh37: 4:183721091-183721091
GRCh38: 4:182799938-182799938
31 TENM3 NM_001080477.4(TENM3):c.4046C>G (p.Ala1349Gly) SNV Likely pathogenic 487483 rs1243762658 GRCh37: 4:183675566-183675566
GRCh38: 4:182754413-182754413
32 PTCH1 NM_001083602.2(PTCH1):c.-346del Deletion Likely pathogenic 221923 rs752765582 GRCh37: 9:98279099-98279099
GRCh38: 9:95516817-95516817
33 PTCH1 NM_000264.5(PTCH1):c.3191C>T (p.Thr1064Met) SNV Likely pathogenic 221931 rs368417828 GRCh37: 9:98218673-98218673
GRCh38: 9:95456391-95456391
34 PTCH1 , LOC100507346 NM_000264.5(PTCH1):c.2332A>C (p.Thr778Pro) SNV Likely pathogenic 221969 rs869025270 GRCh37: 9:98229626-98229626
GRCh38: 9:95467344-95467344
35 PTCH1 NM_000264.5(PTCH1):c.3241G>A (p.Val1081Met) SNV Likely pathogenic 135097 rs587778629 GRCh37: 9:98218623-98218623
GRCh38: 9:95456341-95456341
36 ABCB6 NM_005689.4(ABCB6):c.575G>A (p.Arg192Gln) SNV Uncertain significance 68473 rs150221689 GRCh37: 2:220082504-220082504
GRCh38: 2:219217782-219217782
37 GDF3 NM_020634.3(GDF3):c.974C>T (p.Pro325Leu) SNV Uncertain significance 68474 rs566697767 GRCh37: 12:7842595-7842595
GRCh38: 12:7689999-7689999
38 ELP4 , PAX6 NM_019040.5(ELP4):c.*6053T>A SNV Uncertain significance 304348 rs774473337 GRCh37: 11:31811125-31811125
GRCh38: 11:31789577-31789577
39 VSX2 NM_182894.3(VSX2):c.874G>C (p.Ala292Pro) SNV Uncertain significance 314201 rs766522793 GRCh37: 14:74727410-74727410
GRCh38: 14:74260707-74260707
40 PAX6 NM_000280.4(PAX6):c.-59G>T SNV Uncertain significance 304361 rs886048204 GRCh37: 11:31828404-31828404
GRCh38: 11:31806856-31806856
41 VSX2 NM_182894.3(VSX2):c.579G>A (p.Gln193=) SNV Uncertain significance 314195 rs182972044 GRCh37: 14:74711991-74711991
GRCh38: 14:74245288-74245288
42 PAX6 , ELP4 NM_019040.5(ELP4):c.*3904G>A SNV Uncertain significance 304324 rs3026397 GRCh37: 11:31808976-31808976
GRCh38: 11:31787428-31787428
43 RAX NM_013435.3(RAX):c.*1372del Deletion Uncertain significance 327513 rs543386393 GRCh37: 18:56934864-56934864
GRCh38: 18:59267632-59267632
44 PAX6 , ELP4 NM_019040.5(ELP4):c.*5357A>G SNV Uncertain significance 304343 rs886048197 GRCh37: 11:31810429-31810429
GRCh38: 11:31788881-31788881
45 VSX2 NM_182894.3(VSX2):c.*1377C>T SNV Uncertain significance 314224 rs150033933 GRCh37: 14:74728999-74728999
GRCh38: 14:74262296-74262296
46 SIX6 NM_007374.3(SIX6):c.*232C>T SNV Uncertain significance 313438 rs886050564 GRCh37: 14:60978202-60978202
GRCh38: 14:60511484-60511484
47 PAX6 , ELP4 NM_019040.5(ELP4):c.*3092T>C SNV Uncertain significance 304308 rs371438311 GRCh37: 11:31808164-31808164
GRCh38: 11:31786616-31786616
48 VSX2 NM_182894.3(VSX2):c.*855G>A SNV Uncertain significance 314216 rs45608043 GRCh37: 14:74728477-74728477
GRCh38: 14:74261774-74261774
49 SIX6 NM_007374.3(SIX6):c.607C>T (p.Arg203Trp) SNV Uncertain significance 313432 rs886050563 GRCh37: 14:60977836-60977836
GRCh38: 14:60511118-60511118
50 VSX2 NM_182894.3(VSX2):c.-54G>A SNV Uncertain significance 314190 rs565838448 GRCh37: 14:74706211-74706211
GRCh38: 14:74239508-74239508

Expression for Colobomatous Microphthalmia

Search GEO for disease gene expression data for Colobomatous Microphthalmia.

Pathways for Colobomatous Microphthalmia

GO Terms for Colobomatous Microphthalmia

Cellular components related to Colobomatous Microphthalmia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 chromatin GO:0000785 9.17 VSX2 PITX3 PITX2 PAX6 PAX2 OTX2

Biological processes related to Colobomatous Microphthalmia according to GeneCards Suite gene sharing:

(show all 47)
# Name GO ID Score Top Affiliating Genes
1 regulation of transcription by RNA polymerase II GO:0006357 10.26 VSX2 PITX3 PITX2 PAX6 PAX2 OTX2
2 negative regulation of transcription by RNA polymerase II GO:0000122 10.14 VSX2 SHH PITX2 PAX6 HESX1 DACH1
3 positive regulation of transcription by RNA polymerase II GO:0045944 10.13 SHH PITX3 PITX2 PAX6 PAX2 OTX2
4 regulation of transcription, DNA-templated GO:0006355 10.11 VSX2 SHH PITX3 PITX2 PAX6 PAX2
5 positive regulation of transcription, DNA-templated GO:0045893 10.02 SHH PITX3 PAX6 PAX2 OTX2 GDF6
6 heart development GO:0007507 9.97 STRA6 SHH RBP4 BMP4
7 BMP signaling pathway GO:0030509 9.85 GDF6 GDF3 BMP4
8 cell fate commitment GO:0045165 9.84 SHH PAX6 BMP4
9 SMAD protein signal transduction GO:0060395 9.83 GDF6 GDF3 BMP4
10 anatomical structure development GO:0048856 9.83 SHH PAX6 PAX2
11 visual perception GO:0007601 9.83 VSX2 RBP4 PAX6 PAX2 CRYBA4
12 blood vessel development GO:0001568 9.82 STRA6 PAX6 BMP4
13 positive regulation of pathway-restricted SMAD protein phosphorylation GO:0010862 9.81 GDF6 GDF3 BMP4
14 eye development GO:0001654 9.8 RBP4 PAX6 GDF3
15 lung development GO:0030324 9.8 STRA6 SHH RBP4 BMP4
16 branching involved in ureteric bud morphogenesis GO:0001658 9.79 SHH PAX2 BMP4
17 embryonic skeletal system development GO:0048706 9.78 SHH RBP4 BMP4
18 odontogenesis GO:0042476 9.77 SHH PITX2 BMP4
19 midbrain development GO:0030901 9.75 SHH PITX3 OTX2
20 pituitary gland development GO:0021983 9.74 PAX6 HESX1 BMP4
21 neuron fate commitment GO:0048663 9.73 SHH PAX6 BMP4
22 multicellular organism development GO:0007275 9.73 VSX2 SHH PITX3 PITX2 PAX6 PAX2
23 lung morphogenesis GO:0060425 9.7 SHH BMP4
24 embryonic morphogenesis GO:0048598 9.7 SHH BMP4
25 cell fate determination GO:0001709 9.7 PAX6 PAX2
26 epithelial tube branching involved in lung morphogenesis GO:0060441 9.69 SHH BMP4
27 anatomical structure formation involved in morphogenesis GO:0048646 9.69 SHH BMP4
28 pulmonary valve morphogenesis GO:0003184 9.69 STRA6 BMP4
29 dopaminergic neuron differentiation GO:0071542 9.69 SHH PITX3 OTX2
30 digestive tract morphogenesis GO:0048546 9.68 STRA6 SHH
31 mesonephros development GO:0001823 9.68 PAX2 BMP4
32 dorsal/ventral neural tube patterning GO:0021904 9.68 SHH BMP4
33 iris morphogenesis GO:0061072 9.67 PITX2 PAX6
34 mesenchymal to epithelial transition involved in metanephros morphogenesis GO:0003337 9.65 PAX2 BMP4
35 lymphoid progenitor cell differentiation GO:0002320 9.65 SHH BMP4
36 branching involved in prostate gland morphogenesis GO:0060442 9.64 SHH BMP4
37 epithelial-mesenchymal cell signaling GO:0060684 9.62 SHH BMP4
38 trachea development GO:0060438 9.62 SHH BMP4
39 lens development in camera-type eye GO:0002088 9.62 PITX3 PAX6 NHS CRYBA4
40 deltoid tuberosity development GO:0035993 9.58 PITX2 BMP4
41 smooth muscle tissue development GO:0048745 9.58 STRA6 SHH BMP4
42 retinol transport GO:0034633 9.55 STRA6 RBP4
43 forebrain development GO:0030900 9.55 SHH PAX6 OTX2 HESX1 BMP4
44 regulation of cell fate commitment GO:0010453 9.54 GDF3 BMP4
45 metanephric collecting duct development GO:0072205 9.54 SHH PAX2 BMP4
46 telencephalon regionalization GO:0021978 9.43 SHH PAX6 BMP4
47 camera-type eye development GO:0043010 9.23 STRA6 SHH PITX2 PAX6 PAX2 HESX1

Molecular functions related to Colobomatous Microphthalmia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 9.91 PITX3 PITX2 PAX6 PAX2 OTX2 HESX1
2 DNA-binding transcription factor activity GO:0003700 9.8 PITX3 PITX2 PAX6 PAX2 OTX2 DACH1
3 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.76 VSX2 PITX3 PITX2 PAX6 PAX2 OTX2
4 DNA-binding transcription repressor activity, RNA polymerase II-specific GO:0001227 9.65 VSX2 PITX2 PAX6 HESX1 DACH1
5 retinol binding GO:0019841 9.43 STRA6 RBP4
6 retinal binding GO:0016918 9.4 STRA6 RBP4
7 sequence-specific double-stranded DNA binding GO:1990837 9.17 VSX2 PITX3 PITX2 PAX6 PAX2 OTX2
8 retinol transmembrane transporter activity GO:0034632 8.96 STRA6 RBP4

Sources for Colobomatous Microphthalmia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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