MCID: ISL128
MIFTS: 13

Isolated Microspherophakia

Categories: Eye diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Isolated Microspherophakia

MalaCards integrated aliases for Isolated Microspherophakia:

Name: Isolated Microspherophakia 58

Classifications:

Orphanet: 58  
Rare eye diseases
Developmental anomalies during embryogenesis


External Ids:

Orphanet 58 ORPHA519396

Summaries for Isolated Microspherophakia

MalaCards based summary : Isolated Microspherophakia is related to weill-marchesani syndrome and primary congenital glaucoma. An important gene associated with Isolated Microspherophakia is LTBP2 (Latent Transforming Growth Factor Beta Binding Protein 2). Affiliated tissues include eye.

Related Diseases for Isolated Microspherophakia

Graphical network of the top 20 diseases related to Isolated Microspherophakia:



Diseases related to Isolated Microspherophakia

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:

40
Eye

Publications for Isolated Microspherophakia

Articles related to Isolated Microspherophakia:

(show all 11)
# Title Authors PMID Year
1
Exome sequencing and functional studies in zebrafish identify WDR8 as the causative gene for isolated Microspherophakia in Indian families. 61
33693649 2021
2
A rare presentation of bilateral dislocated lens in a patient with isolated microspherophakia. 61
32461458 2020
3
Isolated microspherophakia with retinitis pigmentosa. 61
31238436 2019
4
[Isolated microspherophakia in a Senegalese family]. 61
28087083 2017
5
Isolated Microspherophakia Presenting with Angle-Closure Glaucoma. 61
28058167 2016
6
Management of bilateral microspherophakia with secondary angle closure glaucoma. 61
26695610 2015
7
Glaucoma caused by isolated microspherophakia: A long story. 61
25494262 2014
8
A homozygous mutation in LTBP2 causes isolated microspherophakia. 61
20617341 2010
9
Clinical and genetic investigation of isolated microspherophakia in a consanguineous Tunisian family. 61
19696795 2009
10
Bilateral acute angle closure glaucoma as a presentation of isolated microspherophakia in an adult: case report. 61
16827934 2006
11
Isolated microspherophakia with optic disc colobomata. 61
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 collagen-containing extracellular matrix GO:0062023 8.96 LTBP2 ADAMTS10
2 extracellular matrix GO:0031012 8.62 LTBP2 ADAMTS10

Sources for Isolated Microspherophakia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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