MCID: ANP022
MIFTS: 31

Anophthalmia/microphthalmia malady

Category: Genetic diseases (common)

Aliases & Classifications for Anophthalmia/microphthalmia

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Aliases & Descriptions for Anophthalmia/microphthalmia:

Name: Anophthalmia/microphthalmia 24 27

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), and among its related pathways are Cardiac Progenitor Differentiation and Neural Stem Cell Differentiation Pathways and Lineage-specific Markers. Affiliated tissues include eye, and related mouse phenotypes are no phenotypic analysis and taste/olfaction.

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 & Phenotypes for Anophthalmia/microphthalmia

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MGI Mouse Phenotypes related to Anophthalmia/microphthalmia according to GeneCards Suite gene sharing:

41 (show all 12)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00030129.5RAX, SOX2, STRA6, VSX2
2MP:00053949.3OTX2, PAX6, SOX2
3MP:00053818.4OTX2, PAX6, RAX, SMOC1, SOX2
4MP:00053908.4OTX2, PAX6, SMOC1, SOX2, STRA6
5MP:00011868.0OTX2, PAX6, SMOC1, SOX2, STRA6, VSX2
6MP:00053848.0OTX2, PAX6, RAX, SMOC1, SOX2, VSX2
7MP:00053828.0OTX2, PAX6, RAX, SMOC1, SOX2, STRA6
8MP:00053808.0OTX2, PAX6, RAX, SMOC1, SOX2, STRA6
9MP:00053788.0OTX2, PAX6, RAX, SMOC1, SOX2, STRA6
10MP:00107687.6OTX2, PAX6, RAX, SMOC1, SOX2, STRA6
11MP:00036317.5OTX2, PAX6, RAX, SMOC1, SOX2, STRA6
12MP:00053916.7OTX2, PAX6, RAX, SMOC1, SOX2, STRA6

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/microphthalmia27 24 VSX2

Anatomical Context for Anophthalmia/microphthalmia

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MalaCards organs/tissues related to Anophthalmia/microphthalmia:

36
Eye

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

(show all 15)
idNameGO IDScoreTop Affiliating Genes
1blood vessel developmentGO:000156810.2PAX6, STRA6
2limb developmentGO:006017310.2RAX, SMOC1
3negative regulation of epithelial cell proliferationGO:005068010.2PAX6, SOX2
4negative regulation of neuron differentiationGO:004566510.2PAX6, SOX2
5pituitary gland developmentGO:002198310.2PAX6, SOX2
6camera-type eye developmentGO:004301010.1PAX6, RAX
7response to woundingGO:000961110.1PAX6, SOX2
8eye developmentGO:00016549.7PAX6, SMOC1, SOX2
9forebrain developmentGO:00309009.4OTX2, PAX6, SOX2
10positive regulation of transcription, DNA-templatedGO:00458939.3OTX2, PAX6, SOX2
11visual perceptionGO:00076019.0PAX6, RAX, VSX2
12positive regulation of transcription from RNA polymerase II promoterGO:00459448.8OTX2, PAX6, RAX, SOX2
13transcription from RNA polymerase II promoterGO:00063668.6OTX2, PAX6, RAX, SOX2
14regulation of transcription, DNA-templatedGO:00063558.4OTX2, PAX6, RAX, SOX2, VSX2
15multicellular organism developmentGO:00072757.9OTX2, PAX6, RAX, SMOC1, SOX2, VSX2

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

idNameGO IDScoreTop Affiliating Genes
1RNA polymerase II core promoter proximal region sequence-specific DNA bindingGO:00009789.2OTX2, PAX6, RAX
2transcription factor activity, sequence-specific DNA bindingGO:00037008.7OTX2, PAX6, RAX, SOX2
3sequence-specific DNA bindingGO:00435658.4OTX2, PAX6, RAX, SOX2, VSX2
4transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific bindingGO:00010778.1OTX2, PAX6, RAX, SOX2

Sources for Anophthalmia/microphthalmia

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet