MCID: ANP022
MIFTS: 24

Anophthalmia/microphthalmia malady

Category: Genetic diseases (common)

Aliases & Classifications for Anophthalmia/microphthalmia

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Aliases & Descriptions for Anophthalmia/microphthalmia:

Name: Anophthalmia/microphthalmia 23 25

Classifications:



Summaries for Anophthalmia/microphthalmia

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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). Affiliated tissues include eye, and related mouse phenotypes are pigmentation and embryo.

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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Interventional clinical trials:

idNameStatusNCT IDPhase
1Molecular Analysis of Microphthalmia/AnophthalmiaCompletedNCT00011843
2Quality of Life in Children Glaucoma and CataractCompletedNCT02490267

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/microphthalmia25 23 VSX2

Anatomical Context for Anophthalmia/microphthalmia

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MalaCards organs/tissues related to Anophthalmia/microphthalmia:

34
Eye

Animal Models for Anophthalmia/microphthalmia or affiliated genes

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MGI Mouse Phenotypes related to Anophthalmia/microphthalmia:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00011869.1SMOC1, SOX2, STRA6, VSX2
2MP:00053808.7ALDH1A3, SMOC1, SOX2, STRA6
3MP:00053828.4ALDH1A3, FREM1, SMOC1, SOX2, STRA6
4MP:00053907.9ALDH1A3, FREM1, SMOC1, SOX2, STRA6
5MP:00107687.6ALDH1A3, FREM1, SMOC1, SOX2, STRA6, VSX2
6MP:00053797.5ALDH1A3, FREM1, SIX6, SOX2, VSX2
7MP:00036317.4FREM1, SIX6, SMOC1, SOX2, STRA6, VSX2
8MP:00053916.4ALDH1A3, FREM1, SIX6, SMOC1, SOX2, STRA6

Publications for Anophthalmia/microphthalmia

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Articles related to Anophthalmia/microphthalmia:

(show all 22)
idTitleAuthorsYear
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
Exome sequencing in 32 patients with anophthalmia/microphthalmia and developmental eye defects. (25457163)
2014
4
Novel splice-site and missense mutations in the ALDH1A3 gene underlying autosomal recessive anophthalmia/microphthalmia. (24568872)
2014
5
Aplasia cutis congenita of the scalp in a female infant with anophthalmia/microphthalmia-esophageal atresia syndrome negative for SOX2 mutation. (23463581)
2013
6
Molecular findings and clinical data in a cohort of 150 patients with anophthalmia/microphthalmia. (24033328)
2013
7
Mutation analysis of the STRA6 gene in isolated and non-isolated anophthalmia/microphthalmia. (22686418)
2013
8
ALDH1A3 loss of function causes bilateral anophthalmia/microphthalmia and hypoplasia of the optic nerve and optic chiasm. (23591992)
2013
9
First implication of STRA6 mutations in isolated anophthalmia, microphthalmia, and coloboma: A new dimension to the STRA6 phenotype. (21901792)
2011
10
Isolated hypogonadotropic hypogonadism with SOX2 mutation and anophthalmia/microphthalmia in offspring. (21326281)
2011
11
Array comparative genomic hybridization analysis in patients with anophthalmia, microphthalmia, and coloboma. (21285886)
2011
12
A novel heterozygous SOX2 mutation causing anophthalmia/microphthalmia with genital anomalies. (19254784)
2009
13
Novel heterozygous OTX2 mutations and whole gene deletions in anophthalmia, microphthalmia and coloboma. (18781617)
2008
14
Identification of novel mutations and sequence variants in the SOX2 and CHX10 genes in patients with anophthalmia/microphthalmia. (18385794)
2008
15
Identification of STRA6 and SKI sequence variants in patients with anophthalmia/microphthalmia. (19112531)
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

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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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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
1basement membraneGO:00056049.5FREM1, SMOC1

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

idNameGO IDScoreTop Affiliating Genes
1eye developmentGO:00016548.7SIX6, SMOC1, SOX2

Sources for Anophthalmia/microphthalmia

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet