MCID: ISL128
MIFTS: 12

Isolated Microspherophakia

Categories: Eye diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Isolated Microspherophakia

MalaCards integrated aliases for Isolated Microspherophakia:

Name: Isolated Microspherophakia 59

Classifications:



External Ids:

Orphanet 59 ORPHA519396

Summaries for Isolated Microspherophakia

MalaCards based summary : Isolated Microspherophakia is related to acute closed-angle glaucoma and weill-marchesani syndrome 1. An important gene associated with Isolated Microspherophakia is ADAMTS10 (ADAM Metallopeptidase With Thrombospondin Type 1 Motif 10). Affiliated tissues include eye.

Related Diseases for Isolated Microspherophakia

Diseases related to Isolated Microspherophakia via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 acute closed-angle glaucoma 10.0
2 weill-marchesani syndrome 1 9.8 ADAMTS10 LTBP2
3 weill-marchesani syndrome 9.7 ADAMTS10 LTBP2

Symptoms & Phenotypes for Isolated Microspherophakia

Drugs & Therapeutics for Isolated Microspherophakia

Search Clinical Trials , NIH Clinical Center for Isolated Microspherophakia

Genetic Tests for Isolated Microspherophakia

Anatomical Context for Isolated Microspherophakia

MalaCards organs/tissues related to Isolated Microspherophakia:

41
Eye

Publications for Isolated Microspherophakia

Articles related to Isolated Microspherophakia:

# Title Authors Year
1
Isolated Microspherophakia Presenting with Angle-Closure Glaucoma. ( 28058167 )
2016
2
Glaucoma caused by isolated microspherophakia: A long story. ( 25494262 )
2014
3
A homozygous mutation in LTBP2 causes isolated microspherophakia. ( 20617341 )
2010
4
Clinical and genetic investigation of isolated microspherophakia in a consanguineous Tunisian family. ( 19696795 )
2009
5
Bilateral acute angle closure glaucoma as a presentation of isolated microspherophakia in an adult: case report. ( 16827934 )
2006
6
Isolated microspherophakia with optic disc colobomata. ( 12900261 )
2003

Variations for Isolated Microspherophakia

Expression for Isolated Microspherophakia

Search GEO for disease gene expression data for Isolated Microspherophakia.

Pathways for Isolated Microspherophakia

GO Terms for Isolated Microspherophakia

Cellular components related to Isolated Microspherophakia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix GO:0031012 8.62 ADAMTS10 LTBP2

Sources for Isolated Microspherophakia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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