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 60

Classifications:



External Ids:

Orphanet 60 ORPHA519396

Summaries for Isolated Microspherophakia

MalaCards based summary : Isolated Microspherophakia is related to microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma and acute closed-angle glaucoma. 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 microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma 10.0
2 acute closed-angle glaucoma 10.0
3 weill-marchesani syndrome 1 9.6 ADAMTS10 LTBP2
4 weill-marchesani syndrome 9.5 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:

42
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 8.32 LTBP2

Sources for Isolated Microspherophakia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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