MCID: ANP022
MIFTS: 23

Anophthalmia/microphthalmia malady

Category: Genetic diseases (common)

Aliases & Classifications for Anophthalmia/microphthalmia

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Aliases & Descriptions for Anophthalmia/microphthalmia:

Name: Anophthalmia/microphthalmia 22 24

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 breast, prostate and heart, 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/microphthalmia22 VSX2

Anatomical Context for Anophthalmia/microphthalmia

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MalaCards organs/tissues related to Anophthalmia/microphthalmia:

33
Breast, Prostate, Heart, Skin, Eye

Animal Models for Anophthalmia/microphthalmia or affiliated genes

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MGI Mouse Phenotypes related to Anophthalmia/microphthalmia:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00011868.9SMOC1, SOX2, STRA6, VSX2
2MP:00053808.8ALDH1A3, SMOC1, SOX2, STRA6
3MP:00053907.9ALDH1A3, FREM1, SMOC1, SOX2, STRA6
4MP:00053797.9ALDH1A3, FREM1, SIX6, SOX2, VSX2
5MP:00053827.8ALDH1A3, FREM1, SMOC1, SOX2, STRA6
6MP:00036317.4FREM1, SIX6, SMOC1, SOX2, STRA6, VSX2
7MP:00107687.3ALDH1A3, FREM1, SMOC1, SOX2, STRA6, VSX2
8MP:00053917.0ALDH1A3, FREM1, SIX6, SMOC1, SOX2, STRA6

Publications for Anophthalmia/microphthalmia

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Articles related to Anophthalmia/microphthalmia:

(show all 21)
idTitleAuthorsYear
1
Novel mutations in PAX6, OTX2 and NDP in anophthalmia, microphthalmia and coloboma. (26130484)
2015
2
Novel splice-site and missense mutations in the ALDH1A3 gene underlying autosomal recessive anophthalmia/microphthalmia. (24568872)
2014
3
Exome sequencing in 32 patients with anophthalmia/microphthalmia and developmental eye defects. (25457163)
2014
4
Mutation analysis of the STRA6 gene in isolated and non-isolated anophthalmia/microphthalmia. (22686418)
2013
5
Aplasia cutis congenita of the scalp in a female infant with anophthalmia/microphthalmia-esophageal atresia syndrome negative for SOX2 mutation. (23463581)
2013
6
ALDH1A3 loss of function causes bilateral anophthalmia/microphthalmia and hypoplasia of the optic nerve and optic chiasm. (23591992)
2013
7
Molecular findings and clinical data in a cohort of 150 patients with anophthalmia/microphthalmia. (24033328)
2013
8
First implication of STRA6 mutations in isolated anophthalmia, microphthalmia, and coloboma: A new dimension to the STRA6 phenotype. (21901792)
2011
9
Array comparative genomic hybridization analysis in patients with anophthalmia, microphthalmia, and coloboma. (21285886)
2011
10
Isolated hypogonadotropic hypogonadism with SOX2 mutation and anophthalmia/microphthalmia in offspring. (21326281)
2011
11
A novel heterozygous SOX2 mutation causing anophthalmia/microphthalmia with genital anomalies. (19254784)
2009
12
Novel heterozygous OTX2 mutations and whole gene deletions in anophthalmia, microphthalmia and coloboma. (18781617)
2008
13
Identification of novel mutations and sequence variants in the SOX2 and CHX10 genes in patients with anophthalmia/microphthalmia. (18385794)
2008
14
Identification of STRA6 and SKI sequence variants in patients with anophthalmia/microphthalmia. (19112531)
2008
15
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
16
Association of anophthalmia and esophageal atresia: four new cases identified by the anophthalmia/microphthalmia clinical registry. (15578584)
2005
17
Analysis of the developmental SIX6 homeobox gene in patients with anophthalmia/microphthalmia. (15266624)
2004
18
Compiling a national register of babies born with anophthalmia/microphthalmia in England 1988-94. (10194985)
1998
19
Anophthalmia-microphthalmia-oblique clefting syndrome: confirmation of the Fryns anophthalmia syndrome. (9375920)
1997
20
Anophthalmia/Microphthalmia Overview (20301552)
1993
21
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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Biological processes related to Anophthalmia/microphthalmia according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1eye developmentGO:00016548.6SIX6, SMOC1, SOX2

Sources for Anophthalmia/microphthalmia

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet