MCID: ANP022
MIFTS: 34

Anophthalmia/microphthalmia malady

Genetic diseases (common) category

Aliases & Classifications for Anophthalmia/microphthalmia

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Anophthalmia/microphthalmia, Aliases & Descriptions:

Name: Anophthalmia/microphthalmia 19 20 22


Classifications:

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


Summaries for Anophthalmia/microphthalmia

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MalaCards based summary: 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. Affiliated tissues include eye, and related mouse phenotypes are taste/olfaction and hearing/vestibular/ear.

GeneReviews summary for anophthalmia-ov

Related Diseases for Anophthalmia/microphthalmia

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



Diseases related to anophthalmia/microphthalmia

Symptoms for Anophthalmia/microphthalmia

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Drugs & Therapeutics for Anophthalmia/microphthalmia

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Drug clinical trials:

Search ClinicalTrials for Anophthalmia/microphthalmia

Search NIH Clinical Center for Anophthalmia/microphthalmia

Genetic Tests for Anophthalmia/microphthalmia

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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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MalaCards organs/tissues related to Anophthalmia/microphthalmia:

31
Eye

Animal Models for Anophthalmia/microphthalmia or affiliated genes

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MGI Mouse Phenotypes related to Anophthalmia/microphthalmia:

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

Publications for Anophthalmia/microphthalmia

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Articles related to Anophthalmia/microphthalmia:

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

Variations for Anophthalmia/microphthalmia

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Expression for genes affiliated with Anophthalmia/microphthalmia

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

Pathways for genes affiliated with Anophthalmia/microphthalmia

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

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.8SOX2, BMP4
29.8BMP4, PITX2
39.7BMP4, PAX2
49.4PAX6, SOX2, SIX3
59.3SOX2, BMP4, PAX6

Compounds for genes affiliated with Anophthalmia/microphthalmia

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Sources:
43Novoseek, 24HMDB
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Compounds related to Anophthalmia/microphthalmia according to GeneCards Suite gene sharing:

idCompoundScoreTop Affiliating Genes
1ptx1439.5PITX2, PITX3
2retinoic acid43 249.5ALDH1A3, BMP4, PAX6, SOX2, C21orf33

GO Terms for genes affiliated with Anophthalmia/microphthalmia

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Cellular components related to Anophthalmia/microphthalmia according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1protein complexGO:00432348.8STRA6, SKI, OTX2, PAX2
2transcription factor complexGO:00056678.7DACH1, PITX2, SOX2, SKI
3cytoplasmGO:00057377.5PAX6, ALDH1A3, PITX2, DACH1, VSX2, SKI
4nucleusGO:00056346.2OTX2, DACH1, PITX3, PITX2, SOX2, PAX2

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

(show all 48)
idNameGO IDScoreTop Affiliating Genes
1diencephalon morphogenesisGO:004885210.4SOX2, OTX2
2retinoic acid metabolic processGO:004257310.2STRA6, ALDH1A3
3paramesonephric duct developmentGO:006120510.2PAX2, STRA6
4smooth muscle tissue developmentGO:004874510.2STRA6, BMP4
5nose morphogenesisGO:004358510.2STRA6, SKI
6epithelial tube branching involved in lung morphogenesisGO:006044110.2SOX2, BMP4
7deltoid tuberosity developmentGO:003599310.2PITX2, BMP4
8optic cup morphogenesis involved in camera-type eye developmentGO:000207210.2ALDH1A3, PAX2
9telencephalon developmentGO:002153710.1BMP4, SIX3
10metanephric collecting duct developmentGO:007220510.1PAX2, BMP4
11forebrain anterior/posterior pattern specificationGO:002179710.1PAX6, SIX3
12mesenchymal to epithelial transition involved in metanephros morphogenesisGO:000333710.1BMP4, PAX2
13lens morphogenesis in camera-type eyeGO:000208910.1PITX3, SKI
14mesonephros developmentGO:000182310.1BMP4, PAX2
15positive regulation of epithelial cell differentiationGO:003085810.1PAX6, SOX2
16midbrain developmentGO:003090110.1OTX2, PITX3
17iris morphogenesisGO:006107210.0PAX6, PITX2
18lens induction in camera-type eyeGO:006023510.0SIX3, BMP4, SOX2
19lung alveolus developmentGO:004828610.0BMP4, STRA6, SOX2
20anterior/posterior axis specificationGO:000994810.0BMP4, SKI
21positive regulation of neuroblast proliferationGO:000205210.0SOX2, PAX6
22odontogenesisGO:004247610.0PITX2, BMP4
23SMAD protein signal transductionGO:006039510.0BMP4, SKI
24eye developmentGO:000165410.0PAX6, SOX2
25positive regulation of DNA bindingGO:00433889.9SKI, PITX2
26embryonic hindlimb morphogenesisGO:00351169.9BMP4, PITX2
27face morphogenesisGO:00603259.9SKI, STRA6
28lens development in camera-type eyeGO:00020889.9PITX3, PAX6
29cell fate determinationGO:00017099.9PAX6, PAX2
30organ morphogenesisGO:00098879.8PITX3, PAX6, SIX6
31negative regulation of osteoblast differentiationGO:00456689.8SOX2, SKI
32somatic stem cell maintenanceGO:00350199.7SKI, SOX2
33neuron migrationGO:00017649.7VAX1, PAX6, PITX2
34neuron fate commitmentGO:00486639.7SOX2, PAX6, BMP4
35pituitary gland developmentGO:00219839.7SOX2, PAX6, BMP4
36negative regulation of epithelial cell proliferationGO:00506809.7BMP4, PAX6, SOX2
37branching involved in ureteric bud morphogenesisGO:00016589.7BMP4, PAX2
38inner ear morphogenesisGO:00424729.7SOX2, PAX2, ALDH1A3, OTX2
39neural tube closureGO:00018439.6SKI, BMP4, PAX2
40negative regulation of fibroblast proliferationGO:00481479.6SKI, DACH1
41blood vessel developmentGO:00015689.6STRA6, PAX6
42negative regulation of neuron differentiationGO:00456659.4PAX6, SOX2
43camera-type eye developmentGO:00430109.3SKI, RAX, VAX1, PAX2, PITX2
44visual perceptionGO:00076019.1PAX2, PAX6, VSX2, RAX, SIX3, SIX6
45transcription, DNA-templatedGO:00063518.9PITX3, PAX2, VAX1, VSX2, RAX, SKI
46negative regulation of transcription from RNA polymerase II promoterGO:00001228.8SKI, BMP4, VAX1, PAX2, SOX2, PITX2
47positive regulation of transcription, DNA-templatedGO:00458938.8OTX2, BMP4, PAX6, PAX2, SOX2, PITX3
48positive regulation of transcription from RNA polymerase II promoterGO:00459447.8PITX2, SOX2, PAX2, PAX6, BMP4, VSX2

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

idNameGO IDScoreTop Affiliating Genes
1transcription regulatory region sequence-specific DNA bindingGO:00009769.6SOX2, PITX2, VAX1
2chromatin DNA bindingGO:00314909.6PITX2, VAX1
3RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcriptionGO:00010779.5PITX2, SOX2, OTX2
4RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcriptionGO:00010789.5DACH1, PITX2
5sequence-specific DNA bindingGO:00435658.9PITX3, OTX2, SIX6, SIX3, RAX, VSX2
6sequence-specific DNA binding transcription factor activityGO:00037008.2PITX3, PITX2, SOX2, PAX6, VAX1, VSX2

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
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet