MCID: ANP022
MIFTS: 35

Anophthalmia/microphthalmia malady

Summaries for Anophthalmia/microphthalmia

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19GeneReviews, 32MalaCards
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MalaCards: Anophthalmia/microphthalmia is related to microphthalmia and coloboma. An important gene associated with Anophthalmia/microphthalmia is VSX2 (visual system homeobox 2), and among its related pathways are Human Early Embryo Development and Transcriptional Regulatory Network in Embryonic Stem Cell. The compound ptx1 have been mentioned in the context of this disorder. Related mouse phenotypes are taste/olfaction and limbs/digits/tail.

GeneReviews summary for anophthalmia-ov

Aliases & Classifications for Anophthalmia/microphthalmia

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19GeneReviews, 20GeneTests, 22GTR
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Aliases & Descriptions:

anophthalmia/microphthalmia 19 20 22


Related Diseases for Anophthalmia/microphthalmia

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17GeneCards, 18GeneDecks
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Graphical network of the top 20 diseases related to Anophthalmia/microphthalmia:



Diseases related to anophthalmia/microphthalmia

Clinical Features for Anophthalmia/microphthalmia

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Drugs & Therapeutics for Anophthalmia/microphthalmia

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Anophthalmia/microphthalmia

Drug clinical trials:

Search ClinicalTrials for Anophthalmia/microphthalmia

Search NIH Clinical Center for Anophthalmia/microphthalmia

Search CenterWatch for Anophthalmia/microphthalmia

Genetic Tests for Anophthalmia/microphthalmia

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20GeneTests, 22GTR
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Genetic tests related to Anophthalmia/microphthalmia:

id Genetic test Affiliating Genes
1 Anophthalmia/microphthalmia20 22 VSX2

Anatomical Context for Anophthalmia/microphthalmia

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Animal Models for Anophthalmia/microphthalmia or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Anophthalmia/microphthalmia:

36 (show all 20)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053949.1SOX2, SIX3, OTX2, PAX6
2MP:00053718.5SMOC1, SKI, FREM1, PITX2, BMP4
3MP:00053778.2SOX2, BMP4, OTX2, PAX6, PAX2
4MP:00011868.0SOX2, PITX3, PITX2, VSX2, OTX2, PAX6
5MP:00053697.8SOX2, BMP4, PITX2, FREM1, SKI, OTX2
6MP:00053897.5SOX2, BMP4, PITX3, PITX2, FREM1, VSX2
7MP:00028737.4SOX2, BMP4, PITX2, FREM1, RAX, OTX2
8MP:00053867.3SOX2, FOXE3, BMP4, PITX3, DACH1, RAX
9MP:00053817.2VAX1, PITX2, BMP4, SOX2, FREM1, SIX3
10MP:00053847.1SOX2, BMP4, PITX3, PITX2, VAX1, SKI
11MP:00053766.8SOX2, BMP4, PITX3, PITX2, STRA6, DACH1
12MP:00053886.8PITX2, PITX3, BMP4, SOX2, FREM1, DACH1
13MP:00053786.7SOX2, BMP4, PITX3, PITX2, STRA6, FREM1
14MP:00053806.6SOX2, BMP4, PITX2, SIX3, SKI, RAX
15MP:00053906.4SOX2, BMP4, PITX3, PITX2, FREM1, SIX3
16MP:00053796.4FREM1, PITX2, PITX3, BMP4, SOX2, DACH1
17MP:00053826.2FREM1, VAX1, PITX2, BMP4, SOX2, SIX3
18MP:00107685.3DACH1, FREM1, VAX1, PITX2, BMP4, SOX2
19MP:00036315.0FREM1, VAX1, STRA6, PITX2, PITX3, BMP4
20MP:00053914.8ALDH1A3, SOX2, FOXE3, BMP4, PITX3, PITX2

Publications for Anophthalmia/microphthalmia

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50PubMed
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Articles related to Anophthalmia/microphthalmia:

(show all 18)
idTitleAuthorsYear
1
Mutation analysis of the STRA6 gene in isolated and non-isolated anophthalmia/microphthalmia. (22686418)
2013
2
Aplasia cutis congenita of the scalp in a female infant with anophthalmia/microphthalmia-esophageal atresia syndrome negative for SOX2 mutation. (23463581)
2013
3
ALDH1A3 loss of function causes bilateral anophthalmia/microphthalmia and hypoplasia of the optic nerve and optic chiasm. (23591992)
2013
4
Molecular findings and clinical data in a cohort of 150 patients with anophthalmia/microphthalmia. (24033328)
2013
5
First implication of STRA6 mutations in isolated anophthalmia, microphthalmia, and coloboma: A new dimension to the STRA6 phenotype. (21901792)
2011
6
Array comparative genomic hybridization analysis in patients with anophthalmia, microphthalmia, and coloboma. (21285886)
2011
7
Isolated hypogonadotropic hypogonadism with SOX2 mutation and anophthalmia/microphthalmia in offspring. (21326281)
2011
8
A novel heterozygous SOX2 mutation causing anophthalmia/microphthalmia with genital anomalies. (19254784)
2009
9
Novel heterozygous OTX2 mutations and whole gene deletions in anophthalmia, microphthalmia and coloboma. (18781617)
2008
10
Identification of novel mutations and sequence variants in the SOX2 and CHX10 genes in patients with anophthalmia/microphthalmia. (18385794)
2008
11
Identification of STRA6 and SKI sequence variants in patients with anophthalmia/microphthalmia. (19112531)
2008
12
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
13
Association of anophthalmia and esophageal atresia: four new cases identified by the anophthalmia/microphthalmia clinical registry. (15578584)
2005
14
Analysis of the developmental SIX6 homeobox gene in patients with anophthalmia/microphthalmia. (15266624)
2004
15
Compiling a national register of babies born with anophthalmia/microphthalmia in England 1988-94. (10194985)
1998
16
Anophthalmia-microphthalmia-oblique clefting syndrome: confirmation of the Fryns anophthalmia syndrome. (9375920)
1997
17
Anophthalmia/Microphthalmia Overview (20301552)
1993
18
Ectodermal dysplasia, ectrodactyly, clefting, anophthalmia/microphthalmia, and genitourinary anomalies: nosology of Goltz-Gorlin syndrome versus EEC syndrome. (1536161)
1992

Genetic Variations for Anophthalmia/microphthalmia

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Expression for genes affiliated with Anophthalmia/microphthalmia

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Anophthalmia/microphthalmia

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

Pathways for genes affiliated with Anophthalmia/microphthalmia

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51QIAGEN, 37NCBI BioSystems Database, 12EMD Millipore
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Pathways related to Anophthalmia/microphthalmia according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.9BMP4, SOX2
29.1SOX2, SIX3, PAX6
39.1PAX6, BMP4, SOX2
48.9PAX6, OTX2, BMP4, SOX2
58.8PAX2, PAX6, OTX2, SIX3

Compounds for genes affiliated with Anophthalmia/microphthalmia

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44Novoseek
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Compounds related to Anophthalmia/microphthalmia according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1ptx1449.9PITX2, PITX3

GO Terms for genes affiliated with Anophthalmia/microphthalmia

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16Gene Ontology
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Cellular components related to Anophthalmia/microphthalmia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1transcription factor complexGO:0056678.6SKI, DACH1, PITX2, FOXE3, SOX2
2nucleusGO:0056346.4DACH1, VAX1, PITX2, PITX3, FOXE3, SIX3

Biological processes related to Anophthalmia/microphthalmia according to GeneCards/GeneDecks:

(show all 40)
idNameGO IDScoreTop Affiliating Genes
1diencephalon morphogenesisGO:04885210.4SOX2, OTX2
2paramesonephric duct developmentGO:06120510.3PAX2, STRA6
3nose morphogenesisGO:04358510.2STRA6, SKI
4deltoid tuberosity developmentGO:03599310.2BMP4, PITX2
5epithelial tube branching involved in lung morphogenesisGO:06044110.2SOX2, BMP4
6metanephric collecting duct developmentGO:07220510.2PAX2, BMP4
7smooth muscle tissue developmentGO:04874510.1BMP4, STRA6
8mesenchymal to epithelial transition involved in metanephros morphogenesisGO:00333710.1PAX2, BMP4
9mesonephros developmentGO:00182310.1PAX2, BMP4
10limb developmentGO:06017310.1RAX, SMOC1
11lung alveolus developmentGO:04828610.1STRA6, BMP4, SOX2
12lens induction in camera-type eyeGO:06023510.1SIX3, BMP4, SOX2
13inner ear morphogenesisGO:04247210.0SOX2, OTX2, PAX2
14lens morphogenesis in camera-type eyeGO:00208910.0SKI, PITX3, FOXE3
15telencephalon developmentGO:02153710.0SIX3, BMP4
16anterior/posterior axis specificationGO:00994810.0BMP4, SKI
17optic cup morphogenesis involved in camera-type eye developmentGO:0020729.9PAX2, ALDH1A3
18positive regulation of epithelial cell proliferationGO:0506799.9FOXE3, BMP4, PAX2
19SMAD protein signal transductionGO:0603959.8SKI, BMP4
20retinoic acid metabolic processGO:0425739.8STRA6, ALDH1A3
21positive regulation of epithelial cell differentiationGO:0308589.8PAX6, SOX2
22neural tube closureGO:0018439.7BMP4, SKI, PAX2
23forebrain anterior/posterior pattern specificationGO:0217979.7PAX6, SIX3
24positive regulation of DNA bindingGO:0433889.7SKI, PITX2
25iris morphogenesisGO:0610729.7PAX6, PITX2
26cell fate determinationGO:0017099.5PAX6, PAX2
27neuron fate commitmentGO:0486639.5SOX2, BMP4, PAX6
28pituitary gland developmentGO:0219839.5PAX6, BMP4, SOX2
29organ morphogenesisGO:0098879.5PITX3, SIX6, PAX6
30camera-type eye developmentGO:0430109.5PAX2, RAX, SKI, VAX1, PITX2
31negative regulation of epithelial cell proliferationGO:0506809.5PAX6, BMP4, SOX2
32positive regulation of neuroblast proliferationGO:0020529.4SOX2, PAX6
33lens development in camera-type eyeGO:0020889.4PAX6, PITX3
34negative regulation of fibroblast proliferationGO:0481479.4SKI, DACH1
35eye developmentGO:0016549.4SOX2, PAX6, SMOC1
36neuron migrationGO:0017649.3PITX2, VAX1, PAX6
37visual perceptionGO:0076018.9VSX2, SIX3, SIX6, RAX, PAX6, PAX2
38negative regulation of transcription from RNA polymerase II promoterGO:0001228.8SOX2, FOXE3, BMP4, PITX2, VAX1, SKI
39positive regulation of transcription, DNA-dependentGO:0458938.7SOX2, BMP4, PITX3, OTX2, PAX6, PAX2
40positive regulation of transcription from RNA polymerase II promoterGO:0459447.8SOX2, BMP4, PITX2, VSX2, SIX3, SKI

Molecular functions related to Anophthalmia/microphthalmia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1chromatin DNA bindingGO:03149010.0VAX1, PITX2
2transcription regulatory region sequence-specific DNA bindingGO:0009769.6SOX2, PITX2, VAX1
3RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positiveGO:0010779.4OTX2, PITX2, SOX2
4sequence-specific DNA bindingGO:0435658.6SOX2, FOXE3, PITX3, VSX2, SIX3, SIX6
5sequence-specific DNA binding transcription factor activityGO:0037007.7PAX6, SOX2, FOXE3, PITX3, PITX2, VAX1

Products for genes affiliated with Anophthalmia/microphthalmia

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Sources for Anophthalmia/microphthalmia

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
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50PubMed
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57SNOMED-CT via Orphanet
60UMLS
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