MCID: MCR352
MIFTS: 26

Microphthalmia, Isolated, with Coloboma 6

Categories: 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 73
Microphthalmia with Coloboma 6 57 13
Mcopcb6 57 75
Microphthalmia, Isolated, with Coloboma, Type 6 40
Microphthalmia, Isolated, with Coloboma, 6 75
Microphthalmia with Coloboma 6, Digenic 57
Isolated Colobomatous Microphthalmia 6 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
microphthalmia, isolated, with coloboma 6:
Inheritance autosomal dominant inheritance digenic inheritance


Classifications:



Summaries for Microphthalmia, Isolated, with Coloboma 6

UniProtKB/Swiss-Prot : 75 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 isolated klippel-feil syndrome and 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 visual impairment and coloboma

Description from OMIM: 613703

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

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
bilateral microphthalmia
bilateral coloboma


Clinical features from OMIM:

613703

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

32 (show all 7)
# Description HPO Frequency HPO Source Accession
1 visual impairment 32 HP:0000505
2 coloboma 32 hallmark (90%) HP:0000589
3 nystagmus 32 HP:0000639
4 bilateral microphthalmos 32 hallmark (90%) HP:0007633
5 hypoplasia of the fovea 32 HP:0007750
6 optic disc hypoplasia 32 HP:0007766
7 abnormality of the temporal bone 32 very rare (1%) HP:0009911

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

Anatomical Context for Microphthalmia, Isolated, with Coloboma 6

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

41
Eye, Retina, Bone

Publications for Microphthalmia, Isolated, with Coloboma 6

Variations for Microphthalmia, Isolated, with Coloboma 6

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

75
# Symbol AA change Variation ID SNP ID
1 GDF3 p.Arg266Cys VAR_065148 rs140926412
2 GDF3 p.Arg274Trp VAR_065149 rs387906946

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 GDF6 NM_001001557.3(GDF6): c.595G> A (p.Ala199Thr) single nucleotide variant Pathogenic rs387906794 GRCh37 Chromosome 8, 97157564: 97157564
2 GDF6 NM_001001557.3(GDF6): c.595G> A (p.Ala199Thr) single nucleotide variant Pathogenic rs387906794 GRCh38 Chromosome 8, 96145336: 96145336
3 GDF3 NM_020634.2(GDF3): c.820C> T (p.Arg274Trp) single nucleotide variant Pathogenic rs387906946 GRCh37 Chromosome 12, 7842749: 7842749
4 GDF3 NM_020634.2(GDF3): c.820C> T (p.Arg274Trp) single nucleotide variant Pathogenic rs387906946 GRCh38 Chromosome 12, 7690153: 7690153
5 GDF6 NM_001001557.3(GDF6): c.936G> C (p.Ser312=) single nucleotide variant Benign/Likely benign rs148861809 GRCh37 Chromosome 8, 97157223: 97157223
6 GDF6 NM_001001557.3(GDF6): c.936G> C (p.Ser312=) single nucleotide variant Benign/Likely benign rs148861809 GRCh38 Chromosome 8, 96144995: 96144995
7 GDF6 NM_001001557.3(GDF6): c.255G> T (p.Pro85=) single nucleotide variant Benign/Likely benign rs112296824 GRCh38 Chromosome 8, 96160438: 96160438
8 GDF6 NM_001001557.3(GDF6): c.255G> T (p.Pro85=) single nucleotide variant Benign/Likely benign rs112296824 GRCh37 Chromosome 8, 97172666: 97172666
9 GDF6 NM_001001557.3(GDF6): c.99_101delGTC (p.Ser34del) deletion Likely benign rs141468446 GRCh37 Chromosome 8, 97172820: 97172822
10 GDF6 NM_001001557.3(GDF6): c.99_101delGTC (p.Ser34del) deletion Likely benign rs141468446 GRCh38 Chromosome 8, 96160592: 96160594

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 regulation of signaling receptor activity GO:0010469 9.4 GDF3 GDF6
2 regulation of apoptotic process GO:0042981 9.37 GDF3 GDF6
3 BMP signaling pathway GO:0030509 9.32 GDF3 GDF6
4 SMAD protein signal transduction GO:0060395 9.26 GDF3 GDF6
5 cell development GO:0048468 9.16 GDF3 GDF6
6 regulation of MAPK cascade GO:0043408 8.96 GDF3 GDF6
7 positive regulation of pathway-restricted SMAD protein phosphorylation GO:0010862 8.62 GDF3 GDF6

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 9.16 GDF3 GDF6
2 growth factor activity GO:0008083 8.96 GDF3 GDF6
3 transforming growth factor beta receptor binding GO:0005160 8.62 GDF3 GDF6

Sources for Microphthalmia, Isolated, with Coloboma 6

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
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