MAC
MCID: CLB026
MIFTS: 47

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 71
Anophthalmia - Microphthalmia 6
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 72 C2931501
UMLS 71 C2931500

Summaries for Colobomatous Microphthalmia

MalaCards based summary : Colobomatous Microphthalmia, also known as anophthalmia-microphthalmia syndrome, is related to orofacial cleft 11 and microphthalmia, isolated 3. An important gene associated with Colobomatous Microphthalmia is STRA6 (Signaling Receptor And Transporter Of Retinol STRA6), and among its related pathways/superpathways are Mesodermal Commitment Pathway and Ectoderm Differentiation. Affiliated tissues include eye, bone and heart, 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 449)
# Related Disease Score Top Affiliating Genes
1 orofacial cleft 11 31.1 CRYBA4 BMP4
2 microphthalmia, isolated 3 31.0 VSX2 PAX6 OTX2
3 microphthalmia, isolated 2 31.0 VSX2 PAX6 OTX2
4 isolated microphthalmia 30.7 VSX2 STRA6 OTX2 CRYBA4
5 fryns microphthalmia syndrome 30.4 VSX2 PAX6 OTX2 HESX1
6 septooptic dysplasia 30.4 SHH PITX2 PAX6 OTX2 HESX1
7 holoprosencephaly 30.2 SHH PAX6 OTX2 HESX1 BMP4
8 nanophthalmos 30.0 VSX2 PAX6 OTX2
9 charge syndrome 29.8 SHH PITX2 PAX6 PAX2 OTX2 BMP4
10 intraocular pressure quantitative trait locus 29.4 PITX2 PAX6 BMP4
11 anterior segment dysgenesis 29.4 TENM3 PITX3 PITX2 PAX6
12 peters-plus syndrome 29.2 VSX2 PITX3 PITX2 PAX6 BMP4
13 aniridia 1 28.9 VSX2 PITX3 PITX2 PAX6 PAX2 OTX2
14 microphthalmia 28.4 VSX2 TENM3 STRA6 SHH RBP4 PITX3
15 coloboma of macula 28.3 VSX2 STRA6 SHH RBP4 PITX3 PITX2
16 cataract 28.3 VSX2 PITX3 PITX2 PAX6 PAX2 OTX2
17 macs syndrome 12.7
18 syndromic microphthalmia-anophthalmia-coloboma 12.7
19 microphthalmia, syndromic 13 12.5
20 microphthalmia/coloboma and skeletal dysplasia syndrome 12.1
21 mycobacterium avium complex infections 12.1
22 focal dermal hypoplasia 12.0
23 microphthalmia, isolated, with coloboma 4 11.9
24 microphthalmia, isolated, with coloboma 3 11.7
25 microphthalmia, isolated, with coloboma 5 11.7
26 microphthalmia, isolated, with coloboma 9 11.7
27 hypocomplementemic urticarial vasculitis 11.5
28 complement component 9 deficiency 11.5
29 microphthalmia, syndromic 9 11.4
30 coloboma-obesity-hypogenitalism-mental retardation syndrome 11.4
31 microphthalmia, isolated, with coloboma 6 11.4
32 microphthalmia, isolated, with coloboma 7 11.4
33 manitoba oculotrichoanal syndrome 11.4
34 anophthalmos with limb anomalies 11.4
35 macdermot-winter syndrome 11.2
36 membranoproliferative glomerulonephritis 11.2
37 melanotic medulloblastoma 10.5 SHH OTX2
38 tooth size 10.5 SHH BMP4
39 microphthalmia, isolated 1 10.5 VSX2 CRYBA4
40 medullomyoblastoma 10.5 SHH OTX2
41 nodular medulloblastoma 10.4 SHH OTX2
42 combined pituitary hormone deficiencies, genetic forms 10.4 OTX2 HESX1
43 pancreas, annular 10.4 STRA6 SHH
44 microcephaly 10.4
45 coloboma of eyelid 10.4 PAX6 ABCB6
46 coloboma of eye lens 10.4 PAX6 ABCB6
47 klippel-feil syndrome 1, autosomal dominant 10.4
48 holoprosencephaly 3 10.4
49 microphthalmia, syndromic 3 10.4
50 microphthalmia with limb anomalies 10.4

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:

45 (show all 18)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.38 ABCB6 BMP4 DACH1 GDF3 IKBKG OTX2
2 mortality/aging MP:0010768 10.35 ABCB6 BMP4 C12orf57 DACH1 GDF3 HESX1
3 homeostasis/metabolism MP:0005376 10.31 ABCB6 BMP4 C12orf57 DACH1 GDF3 IKBKG
4 endocrine/exocrine gland MP:0005379 10.3 BMP4 DACH1 HESX1 IKBKG OTX2 PAX2
5 cardiovascular system MP:0005385 10.27 BMP4 IKBKG OTX2 PAX2 PAX6 PITX2
6 nervous system MP:0003631 10.27 BMP4 DACH1 HESX1 OTX2 PAX2 PAX6
7 embryo MP:0005380 10.24 BMP4 DACH1 GDF3 HESX1 OTX2 PAX2
8 craniofacial MP:0005382 10.1 BMP4 HESX1 OTX2 PAX6 PITX2 SHH
9 digestive/alimentary MP:0005381 10.09 BMP4 IKBKG OTX2 PAX6 PITX2 RBP4
10 normal MP:0002873 10.06 BMP4 GDF3 HESX1 IKBKG OTX2 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 hearing/vestibular/ear MP:0005377 9.99 BMP4 HESX1 OTX2 PAX2 PAX6 SHH
14 no phenotypic analysis MP:0003012 9.98 BMP4 NHS PITX2 PITX3 SHH STRA6
15 respiratory system MP:0005388 9.86 BMP4 DACH1 HESX1 OTX2 PAX6 PITX2
16 skeleton MP:0005390 9.81 BMP4 DACH1 OTX2 PAX6 PITX2 PITX3
17 vision/eye MP:0005391 9.4 BMP4 HESX1 NHS OTX2 PAX2 PAX6
18 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, Bone, Heart

Publications for Colobomatous Microphthalmia

Articles related to Colobomatous Microphthalmia:

(show all 47)
# Title Authors PMID Year
1
Homozygous null mutation in ODZ3 causes microphthalmia in humans. 61 6
22766609 2012
2
Novel mutation in sonic hedgehog in non-syndromic colobomatous microphthalmia. 61 6
12503095 2003
3
Biochemical Basis for Dominant Inheritance, Variable Penetrance, and Maternal Effects in RBP4 Congenital Eye Disease. 6
25910211 2015
4
Contribution of growth differentiation factor 6-dependent cell survival to early-onset retinal dystrophies. 6
23307924 2013
5
ABCB6 mutations cause ocular coloboma. 6
22226084 2012
6
Sonic hedgehog mutations are an uncommon cause of developmental eye anomalies. 6
20425842 2010
7
Mutation of the bone morphogenetic protein GDF3 causes ocular and skeletal anomalies. 6
19864492 2010
8
[Linkage analysis of a Chinese family with autosomal dominant congenital retinaochoroidal coloboma]. 6
19504436 2009
9
CHX10 mutations cause non-syndromic microphthalmia/ anophthalmia in Arab and Jewish kindreds. 6
15257456 2004
10
Microphthalmia/Anophthalmia/Coloboma Spectrum – ARCHIVED CHAPTER, FOR HISTORICAL REFERENCE ONLY 6
20301552 2004
11
The mutational spectrum of the sonic hedgehog gene in holoprosencephaly: SHH mutations cause a significant proportion of autosomal dominant holoprosencephaly. 6
10556296 1999
12
Homozygous frameshift mutations in FAT1 cause a syndrome characterized by colobomatous-microphthalmia, ptosis, nephropathy and syndactyly. 61
30862798 2019
13
Sequence variations in TENM3 gene causing eye anomalies with intellectual disability: Expanding the phenotypic spectrum. 61
29753094 2019
14
Confirmation of TENM3 involvement in autosomal recessive colobomatous microphthalmia. 61
27103084 2016
15
Bosma arhinia microphthalmia syndrome: Clinical report and review of the literature. 61
26842768 2016
16
A Case of Anterior Segment Dysgenesis with Iridolenticular Adhesions in Trisomy 18. 61
27617135 2015
17
Rare ocular features in a case of Kabuki syndrome (Niikawa-Kuroki syndrome). 61
25421742 2014
18
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
19
Monoallelic and biallelic mutations in MAB21L2 cause a spectrum of major eye malformations. 61
24906020 2014
20
[Colobomatous microphthalmia]. 61
25328604 2014
21
Mutations in c12orf57 cause a syndromic form of colobomatous microphthalmia. 61
23453665 2013
22
Mutations in the LHX2 gene are not a frequent cause of micro/anophthalmia. 61
21203406 2010
23
Anophthalmia-esophageal atresia syndrome caused by an SOX2 gene deletion in monozygotic twin brothers with markedly discordant phenotypes. 61
16892407 2006
24
Optic disc coloboma and localized chorioretinal defects in constitutional partial trisomy 8 mosaicism. 61
17050287 2006
25
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
26
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
27
[Genetic study of holoprosencephaly]. 61
14711609 2003
28
Genetic heterogeneity of syndromic X-linked recessive microphthalmia-anophthalmia: is Lenz microphthalmia a single disorder? 61
12116202 2002
29
Colobomatous microphthalmia and orbital neuroglial cyst: case report. 61
11910557 2002
30
Combination of diaphragmatic eventration and microphthalmia/anophthalmia is probably nonrandom. 61
11857549 2002
31
Genetic mapping of a novel X-linked recessive colobomatous microphthalmia. 61
11391653 2001
32
A locus for autosomal dominant colobomatous microphthalmia maps to chromosome 15q12-q15. 61
11035633 2000
33
Colobomatous microphthalmia, microcephaly with cerebellar hypoplasia: association or new syndrome? 61
10842296 2000
34
Microcephaly, colobomatous microphthalmia, short stature, and severe psychomotor retardation in two male cousins: a new MCA/MR syndrome? 61
10190477 1999
35
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
36
Colobomatous microphthalmia with midfacial clefting: part of the spectrum of branchio-oculo-facial syndrome? 61
8832722 1996
37
Hereditary disorders among Iranian Jews. 61
7573153 1995
38
Autosomal recessive colobomatous microphthalmia. 61
8209881 1994
39
A sporadic case of Lenz microphthalmia syndrome. 61
8297071 1993
40
Peters' anomaly and associated congenital malformations. 61
1463415 1992
41
The prenatal development of the optic fissure in colobomatous microphthalmia. 61
1869414 1991
42
The optic fissure in the normal and microphthalmic mouse. 61
2767170 1989
43
[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
44
Complicated colobomatous microphthalmia in the microphthalmic (mi/mi) mouse. 61
3665767 1987
45
Colobomatous macrophthalmia with microcornea. 61
6545385 1984
46
Focal dermal hypoplasia: ocular manifestations in a male. 61
7153824 1982
47
Colobomatous microphthalmia, heart disease, hearing loss, and mental retardation--a syndrome. 61
458518 1979

Variations for Colobomatous Microphthalmia

ClinVar genetic disease variations for Colobomatous Microphthalmia:

6 (show top 50) (show all 216) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 OTX2 NC_000014.9:g.(?_56801715)_(56804383_?)deldeletion Pathogenic 647944 14:57268433-57271101 14:56801715-56804383
2 OTX2 NM_021728.4(OTX2):c.596del (p.Gly199fs)deletion Pathogenic 842588 14:57268751-57268751 14:56802033-56802033
3 C12orf57 NM_138425.4(C12orf57):c.1A>G (p.Met1Val)SNV Pathogenic 41942 rs587776954 12:7053285-7053285 12:6944122-6944122
4 VSX2 NM_182894.3(VSX2):c.71dup (p.Ala25fs)duplication Pathogenic 221962 rs869025268 14:74706329-74706330 14:74239626-74239627
5 STRA6 NM_022369.4(STRA6):c.1913G>C (p.Arg638Pro)SNV Pathogenic 221967 rs144691445 15:74472512-74472512 15:74180171-74180171
6 STRA6 NM_022369.4(STRA6):c.1735C>G (p.Pro579Ala)SNV Pathogenic 221927 rs372931895 15:74473228-74473228 15:74180887-74180887
7 STRA6 NM_022369.4(STRA6):c.1313A>G (p.Gln438Arg)SNV Pathogenic 221966 rs869025269 15:74474789-74474789 15:74182448-74182448
8 OTX2 NC_000014.9:g.(?_56801715)_(56802375_?)deldeletion Likely pathogenic 663960 14:57268433-57269093 14:56801715-56802375
9 PTCH1 NM_000264.5(PTCH1):c.2332A>C (p.Thr778Pro)SNV Likely pathogenic 221969 rs869025270 9:98229626-98229626 9:95467344-95467344
10 PTCH1 NM_001083602.2(PTCH1):c.-346deldeletion Likely pathogenic 221923 rs752765582 9:98279099-98279099 9:95516817-95516817
11 OTX2 NM_021728.4(OTX2):c.730G>T (p.Ala244Ser)SNV Likely pathogenic 641871 14:57268617-57268617 14:56801899-56801899
12 WNT7B NM_058238.3(WNT7B):c.739C>T (p.Arg247Trp)SNV Likely pathogenic 437886 rs1475762618 22:46319047-46319047 22:45923167-45923167
13 SIX6 NM_007374.3(SIX6):c.385G>A (p.Glu129Lys)SNV Conflicting interpretations of pathogenicity 445796 rs146737847 14:60976501-60976501 14:60509783-60509783
14 SIX6 NM_007374.3(SIX6):c.614T>G (p.Leu205Arg)SNV Conflicting interpretations of pathogenicity 522355 rs45549246 14:60977843-60977843 14:60511125-60511125
15 PAX6 NM_019040.5(ELP4):c.*2982G>ASNV Conflicting interpretations of pathogenicity 878113 11:31808054-31808054 11:31786506-31786506
16 PAX6 NM_001310159.1(PAX6):c.930A>T (p.Thr310=)SNV Conflicting interpretations of pathogenicity 878639 11:31815088-31815088 11:31793540-31793540
17 PAX6 NM_001310159.1(PAX6):c.867T>C (p.Ser289=)SNV Conflicting interpretations of pathogenicity 878640 11:31815249-31815249 11:31793701-31793701
18 PAX6 NM_001310159.1(PAX6):c.275G>A (p.Arg92Gln)SNV Conflicting interpretations of pathogenicity 877705 11:31823191-31823191 11:31801643-31801643
19 SIX6 NM_007374.3(SIX6):c.637C>T (p.Pro213Ser)SNV Conflicting interpretations of pathogenicity 790956 14:60977866-60977866 14:60511148-60511148
20 PTCH1 NM_000264.5(PTCH1):c.3241G>A (p.Val1081Met)SNV Conflicting interpretations of pathogenicity 135097 rs587778629 9:98218623-98218623 9:95456341-95456341
21 PTCH1 NM_000264.5(PTCH1):c.1306G>A (p.Asp436Asn)SNV Conflicting interpretations of pathogenicity 135110 rs142274954 9:98240378-98240378 9:95478096-95478096
22 PAX6 NM_001604.5(PAX6):c.192C>A (p.Asn64Lys)SNV Conflicting interpretations of pathogenicity 167417 rs727504064 11:31823316-31823316 11:31801768-31801768
23 OTX2 NM_021728.4(OTX2):c.444G>C (p.Pro148=)SNV Conflicting interpretations of pathogenicity 196589 rs147896150 14:57268903-57268903 14:56802185-56802185
24 FRAS1 NM_025074.7(FRAS1):c.9364C>T (p.Arg3122Trp)SNV Conflicting interpretations of pathogenicity 198324 rs200346497 4:79428622-79428622 4:78507468-78507468
25 FGFR3 NM_001163213.1(FGFR3):c.1885G>A (p.Glu629Lys)SNV Conflicting interpretations of pathogenicity 221944 rs200849753 4:1807820-1807820 4:1806093-1806093
26 NOTCH1 NM_017617.5(NOTCH1):c.2434G>A (p.Gly812Arg)SNV Conflicting interpretations of pathogenicity 221939 rs201620755 9:139407506-139407506 9:136513054-136513054
27 VSX2 NM_182894.3(VSX2):c.667G>A (p.Gly223Arg)SNV Conflicting interpretations of pathogenicity 221963 rs755799430 14:74726392-74726392 14:74259689-74259689
28 DICER1 NM_177438.2(DICER1):c.2191G>A (p.Glu731Lys)SNV Conflicting interpretations of pathogenicity 221950 rs869025262 14:95577719-95577719 14:95111382-95111382
29 RPGRIP1 NM_020366.3(RPGRIP1):c.808A>G (p.Ile270Val)SNV Conflicting interpretations of pathogenicity 221937 rs372615343 14:21775897-21775897 14:21307738-21307738
30 OTX2 NM_021728.4(OTX2):c.641C>A (p.Thr214Asn)SNV Conflicting interpretations of pathogenicity 288894 rs150982073 14:57268706-57268706 14:56801988-56801988
31 PAX6 NM_000280.4(PAX6):c.1137A>C (p.Thr379=)SNV Conflicting interpretations of pathogenicity 290049 rs143477661 11:31812304-31812304 11:31790756-31790756
32 PAX6 NM_019040.5(ELP4):c.*1783T>GSNV Conflicting interpretations of pathogenicity 304292 rs140971065 11:31806855-31806855 11:31785307-31785307
33 PAX6 NM_019040.5(ELP4):c.*3092T>CSNV Conflicting interpretations of pathogenicity 304308 rs371438311 11:31808164-31808164 11:31786616-31786616
34 PAX6 NM_019040.5(ELP4):c.*5123T>ASNV Conflicting interpretations of pathogenicity 304340 rs576321279 11:31810195-31810195 11:31788647-31788647
35 PTCH1 NM_000264.5(PTCH1):c.3191C>T (p.Thr1064Met)SNV Conflicting interpretations of pathogenicity 221931 rs368417828 9:98218673-98218673 9:95456391-95456391
36 PAX6 NM_000280.4(PAX6):c.-316-8C>GSNV Conflicting interpretations of pathogenicity 304365 rs566281941 11:31832571-31832571 11:31811023-31811023
37 PAX6 NM_019040.5(ELP4):c.*1714C>GSNV Conflicting interpretations of pathogenicity 304291 rs180780893 11:31806786-31806786 11:31785238-31785238
38 PAX6 NM_019040.5(ELP4):c.*4806T>ASNV Conflicting interpretations of pathogenicity 304336 rs189545730 11:31809878-31809878 11:31788330-31788330
39 PAX6 NM_000280.4(PAX6):c.711G>A (p.Val237=)SNV Conflicting interpretations of pathogenicity 304357 rs145329506 11:31815634-31815634 11:31794086-31794086
40 PAX6 NM_019040.5(ELP4):c.*2664G>ASNV Conflicting interpretations of pathogenicity 304304 rs567720234 11:31807736-31807736 11:31786188-31786188
41 PAX6 NM_019040.5(ELP4):c.*3242G>ASNV Conflicting interpretations of pathogenicity 304311 rs187705792 11:31808314-31808314 11:31786766-31786766
42 PAX6 NM_019040.5(ELP4):c.*3383C>TSNV Conflicting interpretations of pathogenicity 304312 rs541022955 11:31808455-31808455 11:31786907-31786907
43 PAX6 NM_019040.5(ELP4):c.*3528A>GSNV Conflicting interpretations of pathogenicity 304319 rs143185259 11:31808600-31808600 11:31787052-31787052
44 PAX6 NM_019040.5(ELP4):c.*3904G>ASNV Conflicting interpretations of pathogenicity 304324 rs3026397 11:31808976-31808976 11:31787428-31787428
45 PAX6 NM_019040.5(ELP4):c.*5519C>TSNV Conflicting interpretations of pathogenicity 304345 rs530259403 11:31810591-31810591 11:31789043-31789043
46 PAX6 NM_000280.4(PAX6):c.-107C>TSNV Conflicting interpretations of pathogenicity 304362 rs111270711 11:31828452-31828452 11:31806904-31806904
47 PAX6 NM_019040.5(ELP4):c.*2740G>ASNV Conflicting interpretations of pathogenicity 304307 rs149777109 11:31807812-31807812 11:31786264-31786264
48 PAX6 NM_019040.5(ELP4):c.*4251G>ASNV Conflicting interpretations of pathogenicity 304335 rs3026396 11:31809323-31809323 11:31787775-31787775
49 PAX6 NM_019040.5(ELP4):c.*5569G>ASNV Conflicting interpretations of pathogenicity 304346 rs530931929 11:31810641-31810641 11:31789093-31789093
50 PAX6 NM_000280.4(PAX6):c.831G>A (p.Gln277=)SNV Conflicting interpretations of pathogenicity 304356 rs149053004 11:31815285-31815285 11:31793737-31793737

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 nuclear chromatin GO:0000790 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, DNA-templated GO:0006355 10.19 VSX2 SHH PITX3 PITX2 PAX6 PAX2
2 negative regulation of transcription by RNA polymerase II GO:0000122 10.15 VSX2 SHH PAX6 HESX1 DACH1 BMP4
3 positive regulation of transcription, DNA-templated GO:0045893 10.11 SHH PITX3 PAX6 PAX2 OTX2 BMP4
4 positive regulation of transcription by RNA polymerase II GO:0045944 10.02 VSX2 SHH PITX3 PITX2 PAX6 PAX2
5 heart development GO:0007507 9.97 STRA6 SHH RBP4 BMP4
6 kidney development GO:0001822 9.87 STRA6 SHH BMP4
7 visual perception GO:0007601 9.85 VSX2 RBP4 PAX6 PAX2 CRYBA4
8 cell fate commitment GO:0045165 9.83 SHH PAX6 BMP4
9 smoothened signaling pathway GO:0007224 9.83 SHH PAX6 BMP4
10 blood vessel development GO:0001568 9.83 STRA6 PAX6 BMP4
11 lung development GO:0030324 9.81 STRA6 SHH RBP4 BMP4
12 eye development GO:0001654 9.8 RBP4 PAX6 GDF3
13 embryonic skeletal system development GO:0048706 9.8 SHH RBP4 BMP4
14 branching involved in ureteric bud morphogenesis GO:0001658 9.79 SHH PAX2 BMP4
15 odontogenesis GO:0042476 9.77 SHH PITX2 BMP4
16 midbrain development GO:0030901 9.76 SHH PITX3 OTX2
17 pituitary gland development GO:0021983 9.73 PAX6 HESX1 BMP4
18 forebrain development GO:0030900 9.73 SHH PAX6 OTX2 BMP4
19 neuron fate commitment GO:0048663 9.72 SHH PAX6 BMP4
20 lung morphogenesis GO:0060425 9.7 SHH BMP4
21 embryonic morphogenesis GO:0048598 9.7 SHH BMP4
22 multicellular organism development GO:0007275 9.7 VSX2 SHH PITX3 PITX2 PAX6 PAX2
23 anatomical structure formation involved in morphogenesis GO:0048646 9.69 SHH BMP4
24 cell fate determination GO:0001709 9.69 PAX6 PAX2
25 epithelial tube branching involved in lung morphogenesis GO:0060441 9.69 SHH BMP4
26 digestive tract morphogenesis GO:0048546 9.68 STRA6 SHH
27 pulmonary valve morphogenesis GO:0003184 9.68 STRA6 BMP4
28 dorsal/ventral neural tube patterning GO:0021904 9.68 SHH BMP4
29 mesonephros development GO:0001823 9.68 PAX2 BMP4
30 primitive streak formation GO:0090009 9.67 OTX2 GDF3
31 dopaminergic neuron differentiation GO:0071542 9.67 SHH PITX3 OTX2
32 iris morphogenesis GO:0061072 9.66 PITX2 PAX6
33 mesenchymal to epithelial transition involved in metanephros morphogenesis GO:0003337 9.65 PAX2 BMP4
34 camera-type eye morphogenesis GO:0048593 9.65 TENM3 C12orf57 BMP4
35 lymphoid progenitor cell differentiation GO:0002320 9.64 SHH BMP4
36 branching involved in prostate gland morphogenesis GO:0060442 9.64 SHH BMP4
37 epithelial-mesenchymal cell signaling GO:0060684 9.61 SHH BMP4
38 trachea development GO:0060438 9.61 SHH BMP4
39 formation of anatomical boundary GO:0048859 9.6 SHH GDF3
40 deltoid tuberosity development GO:0035993 9.58 PITX2 BMP4
41 smooth muscle tissue development GO:0048745 9.58 STRA6 SHH BMP4
42 regulation of cell fate commitment GO:0010453 9.57 GDF3 BMP4
43 lens development in camera-type eye GO:0002088 9.56 PITX3 PAX6 NHS CRYBA4
44 retinol transport GO:0034633 9.52 STRA6 RBP4
45 metanephric collecting duct development GO:0072205 9.5 SHH PAX2 BMP4
46 telencephalon regionalization GO:0021978 9.33 SHH PAX6 BMP4
47 camera-type eye development GO:0043010 9.17 STRA6 SHH PITX2 PAX6 PAX2 CRYBA4

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

# Name GO ID Score Top Affiliating Genes
1 DNA-binding transcription factor activity GO:0003700 9.88 PITX3 PITX2 PAX6 PAX2 OTX2 DACH1
2 sequence-specific DNA binding GO:0043565 9.73 VSX2 PITX3 PITX2 PAX6 OTX2 HESX1
3 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 9.63 PITX3 PITX2 PAX6 OTX2 HESX1 DACH1
4 retinol binding GO:0019841 9.37 STRA6 RBP4
5 retinal binding GO:0016918 9.32 STRA6 RBP4
6 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.23 VSX2 PITX3 PITX2 PAX6 PAX2 OTX2
7 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
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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