MCID: ANP022
MIFTS: 31

Anophthalmia/microphthalmia malady

Categories: Genetic diseases

Aliases & Classifications for Anophthalmia/microphthalmia

Aliases & Descriptions for Anophthalmia/microphthalmia:

Name: Anophthalmia/microphthalmia 24 29

Classifications:



Summaries for Anophthalmia/microphthalmia

MalaCards based summary : Anophthalmia/microphthalmia is related to rax-related anophthalmia/microphthalmia and microphthalmia. An important gene associated with Anophthalmia/microphthalmia is VSX2 (Visual System Homeobox 2), and among its related pathways/superpathways are Mesodermal Commitment Pathway and Neural Stem Cell Differentiation Pathways and Lineage-specific Markers. Affiliated tissues include eye, and related phenotypes are cellular and craniofacial

Related Diseases for Anophthalmia/microphthalmia

Graphical network of the top 20 diseases related to Anophthalmia/microphthalmia:



Diseases related to Anophthalmia/microphthalmia

Symptoms & Phenotypes for Anophthalmia/microphthalmia

MGI Mouse Phenotypes related to Anophthalmia/microphthalmia:

44 (show all 12)
id Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.99 OTX2 SMOC1 PAX6 SOX2 RAX VSX2
2 craniofacial MP:0005382 9.97 PAX6 SOX2 RAX STRA6 OTX2 SMOC1
3 mortality/aging MP:0010768 9.95 SMOC1 PAX6 SOX2 RAX OTX2 VSX2
4 embryo MP:0005380 9.93 PAX6 SOX2 RAX OTX2 SMOC1 STRA6
5 growth/size/body region MP:0005378 9.91 OTX2 SMOC1 PAX6 SOX2 RAX STRA6
6 nervous system MP:0003631 9.91 PAX6 SOX2 RAX OTX2 SMOC1 VSX2
7 digestive/alimentary MP:0005381 9.88 PAX6 SOX2 RAX OTX2 SMOC1
8 pigmentation MP:0001186 9.73 PAX6 SOX2 STRA6 OTX2 SMOC1 VSX2
9 no phenotypic analysis MP:0003012 9.62 SOX2 RAX VSX2 STRA6
10 skeleton MP:0005390 9.55 OTX2 SMOC1 PAX6 SOX2 STRA6
11 vision/eye MP:0005391 9.17 PAX6 SOX2 RAX STRA6 OTX2 SMOC1
12 taste/olfaction MP:0005394 9.13 PAX6 SOX2 OTX2

Drugs & Therapeutics for Anophthalmia/microphthalmia

Interventional clinical trials:


id Name Status NCT ID Phase
1 Molecular Analysis of Microphthalmia/Anophthalmia Completed NCT00011843
2 Quality of Life in Children Glaucoma and Cataract Completed NCT02490267

Search NIH Clinical Center for Anophthalmia/microphthalmia

Genetic Tests for Anophthalmia/microphthalmia

Genetic tests related to Anophthalmia/microphthalmia:

id Genetic test Affiliating Genes
1 Anophthalmia/microphthalmia 29 24 VSX2

Anatomical Context for Anophthalmia/microphthalmia

MalaCards organs/tissues related to Anophthalmia/microphthalmia:

39
Eye

Publications for Anophthalmia/microphthalmia

Articles related to Anophthalmia/microphthalmia:

(show all 22)
id Title Authors Year
1
Trends over time in the incidence of congenital anophthalmia, microphthalmia and orbital malformation in England: database study. ( 27601422 )
2016
2
Novel mutations in PAX6, OTX2 and NDP in anophthalmia, microphthalmia and coloboma. ( 26130484 )
2015
3
Novel splice-site and missense mutations in the ALDH1A3 gene underlying autosomal recessive anophthalmia/microphthalmia. ( 24568872 )
2014
4
Exome sequencing in 32 patients with anophthalmia/microphthalmia and developmental eye defects. ( 25457163 )
2014
5
Molecular findings and clinical data in a cohort of 150 patients with anophthalmia/microphthalmia. ( 24033328 )
2013
6
Mutation analysis of the STRA6 gene in isolated and non-isolated anophthalmia/microphthalmia. ( 22686418 )
2013
7
ALDH1A3 loss of function causes bilateral anophthalmia/microphthalmia and hypoplasia of the optic nerve and optic chiasm. ( 23591992 )
2013
8
Aplasia cutis congenita of the scalp in a female infant with anophthalmia/microphthalmia-esophageal atresia syndrome negative for SOX2 mutation. ( 23463581 )
2013
9
Array comparative genomic hybridization analysis in patients with anophthalmia, microphthalmia, and coloboma. ( 21285886 )
2011
10
First implication of STRA6 mutations in isolated anophthalmia, microphthalmia, and coloboma: A new dimension to the STRA6 phenotype. ( 21901792 )
2011
11
Isolated hypogonadotropic hypogonadism with SOX2 mutation and anophthalmia/microphthalmia in offspring. ( 21326281 )
2011
12
A novel heterozygous SOX2 mutation causing anophthalmia/microphthalmia with genital anomalies. ( 19254784 )
2009
13
Identification of novel mutations and sequence variants in the SOX2 and CHX10 genes in patients with anophthalmia/microphthalmia. ( 18385794 )
2008
14
Identification of STRA6 and SKI sequence variants in patients with anophthalmia/microphthalmia. ( 19112531 )
2008
15
Novel heterozygous OTX2 mutations and whole gene deletions in anophthalmia, microphthalmia and coloboma. ( 18781617 )
2008
16
The PDAC syndrome (pulmonary hypoplasia/agenesis, diaphragmatic hernia/eventration, anophthalmia/microphthalmia, and cardiac defect) (Spear syndrome, Matthew-Wood syndrome): report of eight cases including a living child and further evidence for autosomal recessive inheritance. ( 17506106 )
2007
17
Association of anophthalmia and esophageal atresia: four new cases identified by the anophthalmia/microphthalmia clinical registry. ( 15578584 )
2005
18
Analysis of the developmental SIX6 homeobox gene in patients with anophthalmia/microphthalmia. ( 15266624 )
2004
19
Compiling a national register of babies born with anophthalmia/microphthalmia in England 1988-94. ( 10194985 )
1998
20
Anophthalmia-microphthalmia-oblique clefting syndrome: confirmation of the Fryns anophthalmia syndrome. ( 9375920 )
1997
21
Anophthalmia/Microphthalmia Overview ( 20301552 )
1993
22
Ectodermal dysplasia, ectrodactyly, clefting, anophthalmia/microphthalmia, and genitourinary anomalies: nosology of Goltz-Gorlin syndrome versus EEC syndrome. ( 1536161 )
1992

Variations for Anophthalmia/microphthalmia

ClinVar genetic disease variations for Anophthalmia/microphthalmia:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 VSX2 NM_182894.2(VSX2): c.71dupG (p.Ala25Argfs) duplication Pathogenic rs869025268 GRCh38 Chromosome 14, 74239632: 74239632
2 VSX2 NM_182894.2(VSX2): c.667G> A (p.Gly223Arg) single nucleotide variant Pathogenic rs755799430 GRCh37 Chromosome 14, 74726392: 74726392
3 STRA6 NM_022369.3(STRA6): c.1913G> C (p.Arg638Pro) single nucleotide variant Pathogenic rs144691445 GRCh37 Chromosome 15, 74472512: 74472512
4 STRA6 NM_022369.3(STRA6): c.1735C> G (p.Pro579Ala) single nucleotide variant Pathogenic rs372931895 GRCh37 Chromosome 15, 74473228: 74473228
5 STRA6 NM_022369.3(STRA6): c.1313A> G (p.Gln438Arg) single nucleotide variant Pathogenic rs869025269 GRCh37 Chromosome 15, 74474789: 74474789

Expression for Anophthalmia/microphthalmia

Search GEO for disease gene expression data for Anophthalmia/microphthalmia.

Pathways for Anophthalmia/microphthalmia

Pathways related to Anophthalmia/microphthalmia according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1
Show member pathways
11.81 OTX2 PAX6 SOX2
2 11.22 PAX6 SOX2
3 10.98 PAX6 SOX2
4 10.93 OTX2 PAX6 SOX2
5 10.43 OTX2 SOX2

GO Terms for Anophthalmia/microphthalmia

Biological processes related to Anophthalmia/microphthalmia according to GeneCards Suite gene sharing:

(show all 15)
id Name GO ID Score Top Affiliating Genes
1 regulation of transcription, DNA-templated GO:0006355 9.93 OTX2 PAX6 RAX SOX2 VSX2
2 positive regulation of transcription from RNA polymerase II promoter GO:0045944 9.76 OTX2 PAX6 RAX SOX2
3 positive regulation of transcription, DNA-templated GO:0045893 9.72 OTX2 PAX6 SOX2
4 transcription from RNA polymerase II promoter GO:0006366 9.56 OTX2 PAX6 RAX SOX2
5 response to wounding GO:0009611 9.52 PAX6 SOX2
6 camera-type eye development GO:0043010 9.51 PAX6 RAX
7 visual perception GO:0007601 9.5 PAX6 RAX VSX2
8 negative regulation of neuron differentiation GO:0045665 9.49 PAX6 SOX2
9 negative regulation of epithelial cell proliferation GO:0050680 9.48 PAX6 SOX2
10 blood vessel development GO:0001568 9.43 PAX6 STRA6
11 limb development GO:0060173 9.4 RAX SMOC1
12 pituitary gland development GO:0021983 9.37 PAX6 SOX2
13 forebrain development GO:0030900 9.33 OTX2 PAX6 SOX2
14 eye development GO:0001654 9.13 PAX6 SMOC1 SOX2
15 multicellular organism development GO:0007275 9.1 OTX2 PAX6 RAX SMOC1 SOX2 VSX2

Molecular functions related to Anophthalmia/microphthalmia according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 transcription factor activity, sequence-specific DNA binding GO:0003700 9.56 OTX2 PAX6 RAX SOX2
2 RNA polymerase II core promoter proximal region sequence-specific DNA binding GO:0000978 9.33 OTX2 PAX6 RAX
3 transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding GO:0001077 9.26 OTX2 PAX6 RAX SOX2
4 sequence-specific DNA binding GO:0043565 9.02 OTX2 PAX6 RAX SOX2 VSX2

Sources for Anophthalmia/microphthalmia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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