MCID: ANP022
MIFTS: 38

Anophthalmia/microphthalmia malady

Genetic diseases (common) category
Download this MalaCard

Summaries for Anophthalmia/microphthalmia

About this section
Sources:
19GeneReviews, 33MalaCards
See all sources

Fully expand this MalaCard
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 Heart Development. The compounds ptx1 and retinoic acid have been mentioned in the context of this disorder. Related mouse phenotypes are taste/olfaction and hearing/vestibular/ear.

GeneReviews summary for anophthalmia-ov

Aliases & Classifications for Anophthalmia/microphthalmia

About this section
Sources:
19GeneReviews, 20GeneTests, 22GTR
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases (common)


Aliases & Descriptions:

anophthalmia/microphthalmia 19 20 22


Related Diseases for Anophthalmia/microphthalmia

About this section
Sources:
17GeneCards, 18GeneDecks
See all sources

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



Diseases related to anophthalmia/microphthalmia

Symptoms for Anophthalmia/microphthalmia

About this section

Drugs & Therapeutics for Anophthalmia/microphthalmia

About this section
Sources:
42NIH Clinical Center, 6ClinicalTrials
See all sources

Drug clinical trials:

Search ClinicalTrials for Anophthalmia/microphthalmia

Search NIH Clinical Center for Anophthalmia/microphthalmia

Genetic Tests for Anophthalmia/microphthalmia

About this section
Sources:
20GeneTests, 22GTR
See all sources

Genetic tests related to Anophthalmia/microphthalmia:

id Genetic test Affiliating Genes
1 Anophthalmia/microphthalmia20 22 VSX2

Anatomical Context for Anophthalmia/microphthalmia

About this section

Animal Models for Anophthalmia/microphthalmia or affiliated genes

About this section
Sources:
37MGI
See all sources

MGI Mouse Phenotypes related to Anophthalmia/microphthalmia:

37 (show all 22)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053949.4SOX2, PAX6, SIX3, OTX2
2MP:00053778.8SOX2, PAX2, PAX6, BMP4, OTX2
3MP:00030128.7PITX3, PITX2, SOX2, STRA6, BMP4, VSX2
4MP:00011868.2PITX3, PITX2, SOX2, PAX2, PAX6, STRA6
5MP:00053858.1OTX2, SKI, BMP4, PAX6, PAX2, PITX2
6MP:00053867.8DACH1, PITX3, SOX2, PAX6, BMP4, RAX
7MP:00053677.7PAX2, PAX6, FREM1, BMP4, ALDH1A3
8MP:00053697.6PITX2, SOX2, PAX6, FREM1, BMP4, SKI
9MP:00028737.6PITX2, SOX2, PAX6, FREM1, BMP4, ALDH1A3
10MP:00053817.4PITX2, SOX2, PAX6, FREM1, VAX1, BMP4
11MP:00053847.3PITX3, PITX2, SOX2, PAX2, PAX6, VAX1
12MP:00053897.2PITX3, PITX2, SOX2, PAX2, PAX6, FREM1
13MP:00053767.2DACH1, PITX3, PITX2, SOX2, PAX6, STRA6
14MP:00053807.1PITX2, SOX2, PAX2, PAX6, STRA6, BMP4
15MP:00053786.9PAX6, SOX2, PITX2, PITX3, FREM1, STRA6
16MP:00053906.8PAX6, SOX2, PITX2, PITX3, FREM1, BMP4
17MP:00053826.7PITX2, SOX2, PAX6, FREM1, VAX1, BMP4
18MP:00053886.7SOX2, PITX2, PITX3, DACH1, PAX6, FREM1
19MP:00053796.2PAX2, SOX2, PITX2, PITX3, DACH1, PAX6
20MP:00053915.4PITX3, OTX2, SKI, SIX6, SIX3, RAX
21MP:00107685.2FREM1, PAX6, PAX2, SOX2, PITX2, DACH1
22MP:00036315.1DACH1, SKI, SIX6, SIX3, RAX, VSX2

Publications for Anophthalmia/microphthalmia

About this section
Sources:
52PubMed
See all sources

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

Variations for Anophthalmia/microphthalmia

About this section

Expression for genes affiliated with Anophthalmia/microphthalmia

About this section
Sources:
2BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

About this section
Sources:
50PathCards, 53QIAGEN, 38NCBI BioSystems Database, 5Cell Signaling Technology, 12EMD Millipore
See all sources

Compounds for genes affiliated with Anophthalmia/microphthalmia

About this section
Sources:
45Novoseek, 24HMDB
See all sources

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

idCompoundScoreTop Affiliating Genes
1ptx1459.5PITX2, PITX3
2retinoic acid45 249.5ALDH1A3, BMP4, PAX6, SOX2, C21orf33

GO Terms for genes affiliated with Anophthalmia/microphthalmia

About this section
Sources:
16Gene Ontology
See all sources

Cellular components related to Anophthalmia/microphthalmia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1protein complexGO:0432348.8STRA6, SKI, OTX2, PAX2
2transcription factor complexGO:0056678.7DACH1, PITX2, SOX2, SKI
3cytoplasmGO:0057377.5PAX6, ALDH1A3, PITX2, DACH1, VSX2, SKI
4nucleusGO:0056346.2OTX2, DACH1, PITX3, PITX2, SOX2, PAX2

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

(show all 48)
idNameGO IDScoreTop Affiliating Genes
1diencephalon morphogenesisGO:04885210.4SOX2, OTX2
2retinoic acid metabolic processGO:04257310.2STRA6, ALDH1A3
3paramesonephric duct developmentGO:06120510.2PAX2, STRA6
4smooth muscle tissue developmentGO:04874510.2STRA6, BMP4
5nose morphogenesisGO:04358510.2STRA6, SKI
6epithelial tube branching involved in lung morphogenesisGO:06044110.2SOX2, BMP4
7deltoid tuberosity developmentGO:03599310.2PITX2, BMP4
8optic cup morphogenesis involved in camera-type eye developmentGO:00207210.2ALDH1A3, PAX2
9telencephalon developmentGO:02153710.1BMP4, SIX3
10metanephric collecting duct developmentGO:07220510.1PAX2, BMP4
11forebrain anterior/posterior pattern specificationGO:02179710.1PAX6, SIX3
12mesenchymal to epithelial transition involved in metanephros morphogenesisGO:00333710.1BMP4, PAX2
13lens morphogenesis in camera-type eyeGO:00208910.1PITX3, SKI
14mesonephros developmentGO:00182310.1BMP4, PAX2
15positive regulation of epithelial cell differentiationGO:03085810.1PAX6, SOX2
16midbrain developmentGO:03090110.1OTX2, PITX3
17iris morphogenesisGO:06107210.0PAX6, PITX2
18lens induction in camera-type eyeGO:06023510.0SIX3, BMP4, SOX2
19lung alveolus developmentGO:04828610.0BMP4, STRA6, SOX2
20anterior/posterior axis specificationGO:00994810.0BMP4, SKI
21positive regulation of neuroblast proliferationGO:00205210.0SOX2, PAX6
22odontogenesisGO:04247610.0PITX2, BMP4
23SMAD protein signal transductionGO:06039510.0BMP4, SKI
24eye developmentGO:00165410.0PAX6, SOX2
25positive regulation of DNA bindingGO:0433889.9SKI, PITX2
26embryonic hindlimb morphogenesisGO:0351169.9BMP4, PITX2
27face morphogenesisGO:0603259.9SKI, STRA6
28lens development in camera-type eyeGO:0020889.9PITX3, PAX6
29cell fate determinationGO:0017099.9PAX6, PAX2
30organ morphogenesisGO:0098879.8PITX3, PAX6, SIX6
31negative regulation of osteoblast differentiationGO:0456689.8SOX2, SKI
32somatic stem cell maintenanceGO:0350199.7SKI, SOX2
33neuron migrationGO:0017649.7VAX1, PAX6, PITX2
34neuron fate commitmentGO:0486639.7SOX2, PAX6, BMP4
35pituitary gland developmentGO:0219839.7SOX2, PAX6, BMP4
36negative regulation of epithelial cell proliferationGO:0506809.7BMP4, PAX6, SOX2
37branching involved in ureteric bud morphogenesisGO:0016589.7BMP4, PAX2
38inner ear morphogenesisGO:0424729.7SOX2, PAX2, ALDH1A3, OTX2
39neural tube closureGO:0018439.6SKI, BMP4, PAX2
40negative regulation of fibroblast proliferationGO:0481479.6SKI, DACH1
41blood vessel developmentGO:0015689.6STRA6, PAX6
42negative regulation of neuron differentiationGO:0456659.4PAX6, SOX2
43camera-type eye developmentGO:0430109.3SKI, RAX, VAX1, PAX2, PITX2
44visual perceptionGO:0076019.1PAX2, PAX6, VSX2, RAX, SIX3, SIX6
45transcription, DNA-templatedGO:0063518.9PITX3, PAX2, VAX1, VSX2, RAX, SKI
46negative regulation of transcription from RNA polymerase II promoterGO:0001228.8SKI, BMP4, VAX1, PAX2, SOX2, PITX2
47positive regulation of transcription, DNA-templatedGO:0458938.8OTX2, BMP4, PAX6, PAX2, SOX2, PITX3
48positive regulation of transcription from RNA polymerase II promoterGO:0459447.8PITX2, SOX2, PAX2, PAX6, BMP4, VSX2

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

idNameGO IDScoreTop Affiliating Genes
1transcription regulatory region sequence-specific DNA bindingGO:0009769.6VAX1, SOX2, PITX2
2chromatin DNA bindingGO:0314909.6VAX1, PITX2
3RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcriptionGO:0010779.5PITX2, SOX2, OTX2
4RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcriptionGO:0010789.5PITX2, DACH1
5sequence-specific DNA bindingGO:0435658.9OTX2, PITX3, SOX2, VSX2, RAX, SIX3
6sequence-specific DNA binding transcription factor activityGO:0037008.2PITX3, PITX2, SOX2, PAX6, VAX1, VSX2

Products for genes affiliated with Anophthalmia/microphthalmia

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Anophthalmia/microphthalmia

About this section
4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet