MCOPCB6
MCID: MCR352
MIFTS: 30

Microphthalmia, Isolated, with Coloboma 6 (MCOPCB6)

Categories: Eye diseases, Genetic diseases

Aliases & Classifications for Microphthalmia, Isolated, with Coloboma 6

MalaCards integrated aliases for Microphthalmia, Isolated, with Coloboma 6:

Name: Microphthalmia, Isolated, with Coloboma 6 57 29 6 70
Microphthalmia with Coloboma 6 57 29 13
Microphthalmia with Coloboma 6, Digenic 57 29
Mcopcb6 57 72
Microphthalmia, Isolated, with Coloboma, Type 6 39
Microphthalmia, Isolated, with Coloboma, 6 72
Isolated Colobomatous Microphthalmia 6 72

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant


HPO:

31
microphthalmia, isolated, with coloboma 6:
Inheritance autosomal dominant inheritance digenic inheritance


Classifications:



External Ids:

OMIM® 57 613703
OMIM Phenotypic Series 57 PS300345
MedGen 41 C3150968
UMLS 70 C3150968

Summaries for Microphthalmia, Isolated, with Coloboma 6

UniProtKB/Swiss-Prot : 72 Microphthalmia, isolated, with coloboma, 6: A disorder of eye formation, ranging from small size of a single eye to complete bilateral absence of ocular tissues. Ocular abnormalities like opacities of the cornea and lens, scaring of the retina and choroid, and other abnormalities may also be present. Ocular colobomas are a set of malformations resulting from abnormal morphogenesis of the optic cup and stalk, and the fusion of the fetal fissure (optic fissure).

MalaCards based summary : Microphthalmia, Isolated, with Coloboma 6, also known as microphthalmia with coloboma 6, is related to microphthalmia and isolated klippel-feil syndrome. An important gene associated with Microphthalmia, Isolated, with Coloboma 6 is GDF3 (Growth Differentiation Factor 3). Affiliated tissues include eye, retina and bone, and related phenotypes are coloboma and bilateral microphthalmos

More information from OMIM: 613703 PS300345

Related Diseases for Microphthalmia, Isolated, with Coloboma 6

Graphical network of the top 20 diseases related to Microphthalmia, Isolated, with Coloboma 6:



Diseases related to Microphthalmia, Isolated, with Coloboma 6

Symptoms & Phenotypes for Microphthalmia, Isolated, with Coloboma 6

Human phenotypes related to Microphthalmia, Isolated, with Coloboma 6:

31 (show all 7)
# Description HPO Frequency HPO Source Accession
1 coloboma 31 hallmark (90%) HP:0000589
2 bilateral microphthalmos 31 hallmark (90%) HP:0007633
3 abnormal temporal bone morphology 31 very rare (1%) HP:0009911
4 nystagmus 31 HP:0000639
5 visual impairment 31 HP:0000505
6 hypoplasia of the fovea 31 HP:0007750
7 optic disc hypoplasia 31 HP:0007766

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Eyes:
bilateral microphthalmia
bilateral coloboma

Clinical features from OMIM®:

613703 (Updated 05-Apr-2021)

Drugs & Therapeutics for Microphthalmia, Isolated, with Coloboma 6

Search Clinical Trials , NIH Clinical Center for Microphthalmia, Isolated, with Coloboma 6

Genetic Tests for Microphthalmia, Isolated, with Coloboma 6

Genetic tests related to Microphthalmia, Isolated, with Coloboma 6:

# Genetic test Affiliating Genes
1 Microphthalmia, Isolated, with Coloboma 6 29 GDF3 GDF6
2 Microphthalmia with Coloboma 6, Digenic 29
3 Microphthalmia with Coloboma 6 29

Anatomical Context for Microphthalmia, Isolated, with Coloboma 6

MalaCards organs/tissues related to Microphthalmia, Isolated, with Coloboma 6:

40
Eye, Retina, Bone

Publications for Microphthalmia, Isolated, with Coloboma 6

Articles related to Microphthalmia, Isolated, with Coloboma 6:

# Title Authors PMID Year
1
Mutation of the bone morphogenetic protein GDF3 causes ocular and skeletal anomalies. 57 6
19864492 2010
2
Contribution of growth differentiation factor 6-dependent cell survival to early-onset retinal dystrophies. 6
23307924 2013

Variations for Microphthalmia, Isolated, with Coloboma 6

ClinVar genetic disease variations for Microphthalmia, Isolated, with Coloboma 6:

6 (show top 50) (show all 51)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 GDF6 NM_001001557.4(GDF6):c.595G>A (p.Ala199Thr) SNV Pathogenic 30159 rs387906794 GRCh37: 8:97157564-97157564
GRCh38: 8:96145336-96145336
2 GDF3 NM_020634.3(GDF3):c.796C>T (p.Arg266Cys) SNV Pathogenic 30591 rs140926412 GRCh37: 12:7842773-7842773
GRCh38: 12:7690177-7690177
3 GDF3 NM_020634.3(GDF3):c.820C>T (p.Arg274Trp) SNV Pathogenic 30594 rs387906946 GRCh37: 12:7842749-7842749
GRCh38: 12:7690153-7690153
4 GDF6 NM_001001557.4(GDF6):c.883G>A (p.Glu295Lys) SNV Uncertain significance 1037153 GRCh37: 8:97157276-97157276
GRCh38: 8:96145048-96145048
5 GDF6 NM_001001557.4(GDF6):c.1310A>G (p.Asn437Ser) SNV Uncertain significance 1001816 GRCh37: 8:97156849-97156849
GRCh38: 8:96144621-96144621
6 GDF6 NM_001001557.4(GDF6):c.536C>A (p.Pro179Gln) SNV Uncertain significance 1002016 GRCh37: 8:97157623-97157623
GRCh38: 8:96145395-96145395
7 GDF6 NM_001001557.4(GDF6):c.896C>T (p.Ser299Leu) SNV Uncertain significance 1002101 GRCh37: 8:97157263-97157263
GRCh38: 8:96145035-96145035
8 GDF6 NM_001001557.4(GDF6):c.611C>T (p.Pro204Leu) SNV Uncertain significance 1007576 GRCh37: 8:97157548-97157548
GRCh38: 8:96145320-96145320
9 GDF6 NM_001001557.4(GDF6):c.377C>T (p.Thr126Met) SNV Uncertain significance 1008100 GRCh37: 8:97172544-97172544
GRCh38: 8:96160316-96160316
10 GDF6 NM_001001557.4(GDF6):c.272G>C (p.Arg91Pro) SNV Uncertain significance 1008463 GRCh37: 8:97172649-97172649
GRCh38: 8:96160421-96160421
11 GDF6 NM_001001557.4(GDF6):c.281C>G (p.Pro94Arg) SNV Uncertain significance 1009700 GRCh37: 8:97172640-97172640
GRCh38: 8:96160412-96160412
12 GDF6 NM_001001557.4(GDF6):c.167G>C (p.Arg56Pro) SNV Uncertain significance 836171 GRCh37: 8:97172754-97172754
GRCh38: 8:96160526-96160526
13 GDF6 NM_001001557.4(GDF6):c.785G>A (p.Ser262Asn) SNV Uncertain significance 939495 GRCh37: 8:97157374-97157374
GRCh38: 8:96145146-96145146
14 GDF6 NM_001001557.4(GDF6):c.856C>T (p.Arg286Cys) SNV Uncertain significance 954246 GRCh37: 8:97157303-97157303
GRCh38: 8:96145075-96145075
15 GDF6 NM_001001557.4(GDF6):c.223C>A (p.Pro75Thr) SNV Uncertain significance 962453 GRCh37: 8:97172698-97172698
GRCh38: 8:96160470-96160470
16 GDF6 NM_001001557.4(GDF6):c.82A>C (p.Ile28Leu) SNV Uncertain significance 965244 GRCh37: 8:97172839-97172839
GRCh38: 8:96160611-96160611
17 GDF6 NM_001001557.4(GDF6):c.996GCG[4] (p.Arg335dup) Microsatellite Uncertain significance 968900 GRCh37: 8:97157154-97157155
GRCh38: 8:96144926-96144927
18 GDF6 NM_001001557.4(GDF6):c.323C>A (p.Ala108Asp) SNV Uncertain significance 1015372 GRCh37: 8:97172598-97172598
GRCh38: 8:96160370-96160370
19 GDF6 NM_001001557.4(GDF6):c.902A>G (p.Glu301Gly) SNV Uncertain significance 1023649 GRCh37: 8:97157257-97157257
GRCh38: 8:96145029-96145029
20 GDF6 NM_001001557.4(GDF6):c.954C>T (p.Gly318=) SNV Uncertain significance 1023889 GRCh37: 8:97157205-97157205
GRCh38: 8:96144977-96144977
21 GDF6 NM_001001557.4(GDF6):c.1229T>G (p.Met410Arg) SNV Uncertain significance 1026389 GRCh37: 8:97156930-97156930
GRCh38: 8:96144702-96144702
22 GDF6 NM_001001557.4(GDF6):c.728G>T (p.Gly243Val) SNV Uncertain significance 1027057 GRCh37: 8:97157431-97157431
GRCh38: 8:96145203-96145203
23 GDF6 NM_001001557.4(GDF6):c.1002_1003delinsAG (p.Arg335Gly) Indel Uncertain significance 836825 GRCh37: 8:97157156-97157157
GRCh38: 8:96144928-96144929
24 GDF6 NM_001001557.4(GDF6):c.223C>T (p.Pro75Ser) SNV Uncertain significance 851090 GRCh37: 8:97172698-97172698
GRCh38: 8:96160470-96160470
25 GDF6 NM_001001557.4(GDF6):c.870C>A (p.Phe290Leu) SNV Uncertain significance 939263 GRCh37: 8:97157289-97157289
GRCh38: 8:96145061-96145061
26 GDF6 NM_001001557.4(GDF6):c.1304C>T (p.Ala435Val) SNV Uncertain significance 364042 rs140782427 GRCh37: 8:97156855-97156855
GRCh38: 8:96144627-96144627
27 GDF6 NM_001001557.4(GDF6):c.631G>A (p.Gly211Ser) SNV Uncertain significance 1034940 GRCh37: 8:97157528-97157528
GRCh38: 8:96145300-96145300
28 GDF6 NM_001001557.4(GDF6):c.1322A>G (p.Tyr441Cys) SNV Uncertain significance 1043780 GRCh37: 8:97156837-97156837
GRCh38: 8:96144609-96144609
29 GDF6 NM_001001557.4(GDF6):c.305A>G (p.Tyr102Cys) SNV Uncertain significance 954499 GRCh37: 8:97172616-97172616
GRCh38: 8:96160388-96160388
30 GDF3 NM_020634.3(GDF3):c.974C>T (p.Pro325Leu) SNV Uncertain significance 68474 rs566697767 GRCh37: 12:7842595-7842595
GRCh38: 12:7689999-7689999
31 GDF6 NM_001001557.4(GDF6):c.815C>T (p.Pro272Leu) SNV Uncertain significance 836995 GRCh37: 8:97157344-97157344
GRCh38: 8:96145116-96145116
32 GDF6 NM_001001557.4(GDF6):c.878T>C (p.Met293Thr) SNV Uncertain significance 959329 GRCh37: 8:97157281-97157281
GRCh38: 8:96145053-96145053
33 GDF6 NM_001001557.4(GDF6):c.725C>G (p.Ala242Gly) SNV Uncertain significance 286405 rs886043381 GRCh37: 8:97157434-97157434
GRCh38: 8:96145206-96145206
34 GDF6 NM_001001557.4(GDF6):c.362C>T (p.Ser121Phe) SNV Uncertain significance 968855 GRCh37: 8:97172559-97172559
GRCh38: 8:96160331-96160331
35 GDF6 NM_001001557.4(GDF6):c.460A>G (p.Met154Val) SNV Uncertain significance 835633 GRCh37: 8:97157699-97157699
GRCh38: 8:96145471-96145471
36 GDF6 NM_001001557.4(GDF6):c.623C>T (p.Pro208Leu) SNV Uncertain significance 837877 GRCh37: 8:97157536-97157536
GRCh38: 8:96145308-96145308
37 GDF6 NM_001001557.4(GDF6):c.27G>A (p.Ser9=) SNV Uncertain significance 846167 GRCh37: 8:97172894-97172894
GRCh38: 8:96160666-96160666
38 GDF6 NM_001001557.4(GDF6):c.428T>C (p.Leu143Pro) SNV Uncertain significance 853665 GRCh37: 8:97157731-97157731
GRCh38: 8:96145503-96145503
39 GDF6 NM_001001557.4(GDF6):c.322G>A (p.Ala108Thr) SNV Uncertain significance 863448 GRCh37: 8:97172599-97172599
GRCh38: 8:96160371-96160371
40 GDF6 NM_001001557.4(GDF6):c.250G>A (p.Glu84Lys) SNV Uncertain significance 914077 GRCh37: 8:97172671-97172671
GRCh38: 8:96160443-96160443
41 GDF6 NM_001001557.4(GDF6):c.253C>T (p.Pro85Ser) SNV Uncertain significance 958860 GRCh37: 8:97172668-97172668
GRCh38: 8:96160440-96160440
42 GDF6 NM_001001557.4(GDF6):c.758A>G (p.Gln253Arg) SNV Uncertain significance 964319 GRCh37: 8:97157401-97157401
GRCh38: 8:96145173-96145173
43 GDF6 NM_001001557.4(GDF6):c.24C>G (p.Leu8=) SNV Likely benign 707560 rs369859861 GRCh37: 8:97172897-97172897
GRCh38: 8:96160669-96160669
44 GDF6 NM_001001557.4(GDF6):c.112G>C (p.Gly38Arg) SNV Likely benign 707574 rs139075817 GRCh37: 8:97172809-97172809
GRCh38: 8:96160581-96160581
45 GDF6 NM_001001557.4(GDF6):c.483G>T (p.Leu161=) SNV Likely benign 772997 rs200585226 GRCh37: 8:97157676-97157676
GRCh38: 8:96145448-96145448
46 GDF6 NM_001001557.4(GDF6):c.870C>T (p.Phe290=) SNV Likely benign 364045 rs765928590 GRCh37: 8:97157289-97157289
GRCh38: 8:96145061-96145061
47 GDF6 NM_001001557.4(GDF6):c.96_98GTC[1] (p.Ser34del) Microsatellite Likely benign 470717 rs141468446 GRCh37: 8:97172820-97172822
GRCh38: 8:96160592-96160594
48 GDF6 NM_001001557.4(GDF6):c.936G>C (p.Ser312=) SNV Benign 256851 rs148861809 GRCh37: 8:97157223-97157223
GRCh38: 8:96144995-96144995
49 GDF6 NM_001001557.4(GDF6):c.255G>T (p.Pro85=) SNV Benign 256847 rs112296824 GRCh37: 8:97172666-97172666
GRCh38: 8:96160438-96160438
50 GDF6 NM_001001557.4(GDF6):c.852C>G (p.Ser284=) SNV Benign 364046 rs74498875 GRCh37: 8:97157307-97157307
GRCh38: 8:96145079-96145079

UniProtKB/Swiss-Prot genetic disease variations for Microphthalmia, Isolated, with Coloboma 6:

72
# Symbol AA change Variation ID SNP ID
1 GDF3 p.Arg266Cys VAR_065148 rs140926412
2 GDF3 p.Arg274Trp VAR_065149 rs387906946

Expression for Microphthalmia, Isolated, with Coloboma 6

Search GEO for disease gene expression data for Microphthalmia, Isolated, with Coloboma 6.

Pathways for Microphthalmia, Isolated, with Coloboma 6

GO Terms for Microphthalmia, Isolated, with Coloboma 6

Biological processes related to Microphthalmia, Isolated, with Coloboma 6 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 multicellular organism development GO:0007275 9.26 GDF6 GDF3
2 BMP signaling pathway GO:0030509 9.16 GDF6 GDF3
3 SMAD protein signal transduction GO:0060395 8.96 GDF6 GDF3
4 positive regulation of pathway-restricted SMAD protein phosphorylation GO:0010862 8.62 GDF6 GDF3

Molecular functions related to Microphthalmia, Isolated, with Coloboma 6 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytokine activity GO:0005125 8.96 GDF6 GDF3
2 growth factor activity GO:0008083 8.62 GDF6 GDF3

Sources for Microphthalmia, Isolated, with Coloboma 6

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 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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