MCID: ANP022
MIFTS: 33

Anophthalmia/microphthalmia malady

Category: Genetic diseases (common)

Aliases & Classifications for Anophthalmia/microphthalmia

About this section

Aliases & Descriptions for Anophthalmia/microphthalmia:

Name: Anophthalmia/microphthalmia 22 24

Classifications:



Summaries for Anophthalmia/microphthalmia

About this section
MalaCards based summary: Anophthalmia/microphthalmia is related to rax-related anophthalmia/microphthalmia and microphthalmia, syndromic 3. An important gene associated with Anophthalmia/microphthalmia is VSX2 (Visual System Homeobox 2). Affiliated tissues include prostate and skin, and related mouse phenotypes are pigmentation and embryo.

Related Diseases for Anophthalmia/microphthalmia

About this section

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



Diseases related to anophthalmia/microphthalmia

Symptoms for Anophthalmia/microphthalmia

About this section

Drugs & Therapeutics for Anophthalmia/microphthalmia

About this section

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

About this section

Genetic tests related to Anophthalmia/microphthalmia:

id Genetic test Affiliating Genes
1 Anophthalmia/microphthalmia22 VSX2

Anatomical Context for Anophthalmia/microphthalmia

About this section

MalaCards organs/tissues related to Anophthalmia/microphthalmia:

33
Prostate, Skin

Animal Models for Anophthalmia/microphthalmia or affiliated genes

About this section

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

About this section

Articles related to Anophthalmia/microphthalmia:

(show all 21)
idTitleAuthorsYear
1
Flattop regulates basal body docking and positioning in mono- and multiciliated cells. (25296022)
2014
2
Fatigue and daytime sleepiness scale in myotonic dystrophy type 1. (23042586)
2013
3
Conformational switch of a flexible loop in human laminin receptor determines laminin-1 interaction. (22290616)
2012
4
Mast-cell degranulation induced by physical stimuli involves the activation of transient-receptor-potential channel TRPV2. (21574765)
2012
5
Hypopyon-like features: new dermoscopic criteria in the differential diagnosis of cutaneous lymphangioma circumscriptum and haemangiomas? (21645121)
2012
6
Giant epithelial malignancies (Basal cell carcinoma, squamous cell carcinoma): a series of 20 tumors from a single center. (22557850)
2012
7
Resurgence of measles virus in SALo Paulo, Brazil. (22499426)
2012
8
Is EGR1 a potential target for prostate cancer therapy? (19792968)
2009
9
Glutamic acid decarboxylase antibodies are indicators of the course, but not of the onset, of diabetes in middle-aged adults: the Atherosclerosis Risk in Communities Study. (17653446)
2007
10
Efficacy and safety of aceclofenac in the treatment of osteoarthritis: a randomized double-blind comparative clinical trial versus diclofenac - an Indian experience. (16709320)
2006
11
PIASy mediates NEMO sumoylation and NF-kappaB activation in response to genotoxic stress. (16906147)
2006
12
Differential roles of C-terminal activation motifs in the establishment of Stat6 transcriptional specificity. (14519766)
2003
13
Heparin-induced skin necrosis in a patient with end-stage renal failure and functional protein S deficiency. (11509800)
2001
14
Hepatocyte Growth Factor/scatter factor-induces phosphorylation of cortactin in A431 cells in a Src kinase-independent manner. (11439336)
2001
15
Lipidation of apolipoprotein E influences its isoform-specific interaction with Alzheimer's amyloid beta peptides. (10816430)
2000
16
Eccrine sweat gland carcinoma: a case report and review of diagnosis and treatment. (10860232)
2000
17
ATPase activity of purified and reconstituted multidrug resistance protein MRP1 from drug-selected H69AR cells. (10556489)
1999
18
Phenotypes in three pedigrees with autosomal dominant obesity caused by haploinsufficiency mutations in the melanocortin-4 receptor gene. (10577903)
1999
19
Microalbuminuria. (7804756)
1994
20
Production of L-tryptophan from D,L-5-indolylmethylhydantoin by resting cells of a mutant of Arthrobacter species (DSM 3747). (1366911)
1990
21
Angiomatous lymphoid hamartoma associated with chronic anemia, hypoferremia, and hypergammaglobulinemia. (5034871)
1972

Variations for Anophthalmia/microphthalmia

About this section

Expression for genes affiliated with Anophthalmia/microphthalmia

About this section
Search GEO for disease gene expression data for Anophthalmia/microphthalmia.

Pathways for genes affiliated with Anophthalmia/microphthalmia

About this section

GO Terms for genes affiliated with Anophthalmia/microphthalmia

About this section

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

About this section
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