MCID: ANP022
MIFTS: 39

Anophthalmia/microphthalmia malady

Summaries for Anophthalmia/microphthalmia

Sources:
19GeneReviews, 33MalaCards
See all sources

Fully expand this MalaCard

Export this MalaCard
MalaCards: Anophthalmia/microphthalmia, also known as hay-wells syndrome, 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

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

Aliases & Descriptions:

anophthalmia/microphthalmia 19 20 22
hay-wells syndrome 19
aec syndrome 19


Related Diseases for Anophthalmia/microphthalmia

Sources:
17GeneCards, 18GeneDecks
See all sources

Diseases related to Anophthalmia/microphthalmia via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 46)
idRelated DiseaseScoreTop Affiliating Genes
1microphthalmia31.0SMOC1, PAX2, PAX6, OTX2, RAX, SIX6
2coloboma30.4SOX2, PAX2, PAX6, OTX2, SIX3, VSX2
3optic nerve hypoplasia30.1PAX6
4wells syndrome10.8
5cleft palate10.5
6ankyloblepharon-ectodermal defects-cleft lip/palate syndrome10.5
7rapp-hodgkin syndrome10.5
8micro syndrome10.4
9isolated microphthalmia10.3
10matthew-wood syndrome10.2
11esophageal atresia10.2
12n syndrome10.2
13sox2 anophthalmia syndrome10.2
14rax-related anophthalmia/microphthalmia10.2
15microphthalmia, isolated 210.2
16bowen syndrome10.2
17diaphragmatic eventration10.1
18fryns syndrome10.1
19manitoba oculotrichoanal syndrome10.1
20microphthalmia syndromic 310.1
21aplasia cutis congenita10.1
22ectodermal dysplasia10.1
23scalp syndrome10.1
24chand syndrome10.1
25zlotogora syndrome10.1
26hair-an syndrome10.1
27sox2-related eye disorders10.0SOX2
28renal coloboma syndrome10.0PAX2
29posterior polar cataract10.0PITX3
30anterior segment mesenchymal dysgenesis10.0FOXE3, PITX3
31cleft lip10.0BMP4
32axenfeld-rieger syndrome type 110.0PITX3, PITX2
33polydactyly10.0BMP4
34holoprosencephaly10.0SIX3, BMP4
35cataract10.0PITX3, PAX6
36pituitary hypoplasia10.0OTX2
37medulloblastoma10.0OTX2, PAX6
38peters plus syndrome10.0PAX6, PITX2
39axenfeld-rieger syndrome10.0PAX6, PITX2
40aniridia10.0FOXE3, PITX2, PAX6
41cataract, congenital10.0PAX6, PITX3
42glaucoma10.0PAX6, PITX2, BMP4
43anophthalmia plus syndrome10.0SOX2, VSX2, OTX2, PAX6
44retinoblastoma10.0PAX6, BMP4
45developmental disabilities10.0PAX2, PAX6, PITX2
46embryonal cancer10.0SOX2, BMP4, PAX6

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



Diseases related to anophthalmia/microphthalmia

Clinical Features for Anophthalmia/microphthalmia

Drugs & Therapeutics for Anophthalmia/microphthalmia

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
See all sources

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

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

Animal Models for Anophthalmia/microphthalmia or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

MGI Mouse Phenotypes related to Anophthalmia/microphthalmia:

37 (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

Sources:
51PubMed
See all sources

Articles related to Anophthalmia/microphthalmia:

(show top 50)    (show all 52)
idTitleAuthorsYear
1
Mutation analysis of the STRA6 gene in isolated and non-isolated anophthalmia/microphthalmia. (22686418)
2013
2
Microphthalmia, anophthalmia, and coloboma and associated ocular and systemic features: understanding the spectrum. (24177921)
2013
3
Aplasia cutis congenita of the scalp in a female infant with anophthalmia/microphthalmia-esophageal atresia syndrome negative for SOX2 mutation. (23463581)
2013
4
A missense mutation in ALDH1A3 causes isolated microphthalmia/anophthalmia in nine individuals from an inbred Muslim kindred. (23881059)
2013
5
Whole-genome copy number variation analysis in anophthalmia and microphthalmia. (23701296)
2013
6
ALDH1A3 loss of function causes bilateral anophthalmia/microphthalmia and hypoplasia of the optic nerve and optic chiasm. (23591992)
2013
7
ALDH1A3 mutations cause recessive anophthalmia and microphthalmia. (23312594)
2013
8
Molecular findings and clinical data in a cohort of 150 patients with anophthalmia/microphthalmia. (24033328)
2013
9
Associated malformations among infants with anophthalmia and microphthalmia. (22246853)
2012
10
Novel OTX2 mutation associated with congenital anophthalmia and microphthalmia in a Han Chinese family. (22268617)
2012
11
Congenital anophthalmia and microphthalmia: epidemiology and orbitofacial rehabilitation. (22267908)
2011
12
The genetics of anophthalmia and microphthalmia. (21825993)
2011
13
First implication of STRA6 mutations in isolated anophthalmia, microphthalmia, and coloboma: A new dimension to the STRA6 phenotype. (21901792)
2011
14
Targeted 'next-generation' sequencing in anophthalmia and microphthalmia patients confirms SOX2, OTX2 and FOXE3 mutations. (22204637)
2011
15
Array comparative genomic hybridization analysis in patients with anophthalmia, microphthalmia, and coloboma. (21285886)
2011
16
Isolated hypogonadotropic hypogonadism with SOX2 mutation and anophthalmia/microphthalmia in offspring. (21326281)
2011
17
Mutational screening of CHX10, GDF6, OTX2, RAX and SOX2 genes in 50 unrelated microphthalmia-anophthalmia-coloboma (MAC) spectrum cases. (20494911)
2010
18
Microphthalmia and anophthalmia in Chuuk State, Federated States of Micronesia. (20968247)
2010
19
Novel SOX2 mutations and genotype-phenotype correlation in anophthalmia and microphthalmia. (19921648)
2009
20
Sequence alterations in RX in patients with microphthalmia, anophthalmia, and coloboma. (19158959)
2009
21
A novel heterozygous SOX2 mutation causing anophthalmia/microphthalmia with genital anomalies. (19254784)
2009
22
Novel heterozygous OTX2 mutations and whole gene deletions in anophthalmia, microphthalmia and coloboma. (18781617)
2008
23
Identification of novel mutations and sequence variants in the SOX2 and CHX10 genes in patients with anophthalmia/microphthalmia. (18385794)
2008
24
Identification of STRA6 and SKI sequence variants in patients with anophthalmia/microphthalmia. (19112531)
2008
25
A practical guide to the management of anophthalmia and microphthalmia. (17914432)
2007
26
Mutations in the CHX10 gene in non-syndromic microphthalmia/anophthalmia patients from Qatar. (17661825)
2007
27
Anophthalmia and microphthalmia. (18039390)
2007
28
Nutrient intakes in women and risks of anophthalmia and microphthalmia in their offspring. (17847120)
2007
29
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
30
Descriptive epidemiology of anophthalmia and microphthalmia, Hawaii, 1986-2001. (16498668)
2006
31
A population-based case-control study of isolated anophthalmia and microphthalmia. (16284872)
2005
32
The epidemiology of anophthalmia and microphthalmia in Sweden. (15971507)
2005
33
Association of anophthalmia and esophageal atresia: four new cases identified by the anophthalmia/microphthalmia clinical registry. (15578584)
2005
34
Epidemiologic characteristics of anophthalmia and bilateral microphthalmia among 2.5 million births in California, 1989-1997. (16007635)
2005
35
Absence of SIX6 mutations in microphthalmia, anophthalmia, and coloboma. (15505031)
2004
36
CHX10 mutations cause non-syndromic microphthalmia/ anophthalmia in Arab and Jewish kindreds. (15257456)
2004
37
Analysis of the developmental SIX6 homeobox gene in patients with anophthalmia/microphthalmia. (15266624)
2004
38
Prenatal diagnosis of otocephaly with microphthalmia/anophthalmia using ultrasound and magnetic resonance imaging. (12905522)
2003
39
Genetic heterogeneity of syndromic X-linked recessive microphthalmia-anophthalmia: is Lenz microphthalmia a single disorder? (12116202)
2002
40
National study of microphthalmia, anophthalmia, and coloboma (MAC) in Scotland: investigation of genetic aetiology. (11826019)
2002
41
Clustering of anophthalmia and microphthalmia. No clustering has been found-but a link seems to exist with population density. (9756797)
1998
42
Compiling a national register of babies born with anophthalmia/microphthalmia in England 1988-94. (10194985)
1998
43
Geographical variation in anophthalmia and microphthalmia in England, 1988-94. (9756803)
1998
44
Anophthalmia-microphthalmia-oblique clefting syndrome: confirmation of the Fryns anophthalmia syndrome. (9375920)
1997
45
Bilateral microphthalmia, esophageal atresia, and cryptorchidism: the anophthalmia-esophageal-genital syndrome. (9128938)
1997
46
Sleep disorders in children with congenital anophthalmia and microphthalmia. (10532777)
1997
47
The descriptive epidemiology of anophthalmia and microphthalmia. (8921488)
1996
48
Anophthalmia/Microphthalmia Overview (20301552)
1993
49
Ectodermal dysplasia, ectrodactyly, clefting, anophthalmia/microphthalmia, and genitourinary anomalies: nosology of Goltz-Gorlin syndrome versus EEC syndrome. (1536161)
1992
50
Hypogonadotropic hypogonadism in mentally retarded adults with microphthalmia and clinical anophthalmia. (2363423)
1990

Genetic Variations for Anophthalmia/microphthalmia

Expression for genes affiliated with Anophthalmia/microphthalmia

Sources:
1BioGPS, 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

Sources:
52QIAGEN, 38NCBI BioSystems Database, 12EMD Millipore
See all sources

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

Sources:
45Novoseek
See all sources

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

idCompoundScoreTop Affiliating Genes
1ptx1459.9PITX2, PITX3

GO Terms for genes affiliated with Anophthalmia/microphthalmia

Sources:
16Gene Ontology
See all sources

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

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

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

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Anophthalmia/microphthalmia

3CDC
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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet