MCID: ERL042
MIFTS: 8

Early-Onset Partial Cataract

Categories: Eye diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Early-Onset Partial Cataract

MalaCards integrated aliases for Early-Onset Partial Cataract:

Name: Early-Onset Partial Cataract 59

Characteristics:

Orphanet epidemiological data:

59
early-onset partial cataract
Inheritance: Autosomal dominant,Autosomal recessive,X-linked recessive; Age of onset: Infancy,Neonatal;

Classifications:



External Ids:

ICD10 via Orphanet 34 Q12.0
Orphanet 59 ORPHA98992

Summaries for Early-Onset Partial Cataract

MalaCards based summary : Early-Onset Partial Cataract Affiliated tissues include eye.

Related Diseases for Early-Onset Partial Cataract

Symptoms & Phenotypes for Early-Onset Partial Cataract

Drugs & Therapeutics for Early-Onset Partial Cataract

Search Clinical Trials , NIH Clinical Center for Early-Onset Partial Cataract

Genetic Tests for Early-Onset Partial Cataract

Anatomical Context for Early-Onset Partial Cataract

MalaCards organs/tissues related to Early-Onset Partial Cataract:

41
Eye

Publications for Early-Onset Partial Cataract

Articles related to Early-Onset Partial Cataract:

# Title Authors PMID Year
1
Targeted Exome Sequencing of Congenital Cataracts Related Genes: Broadening the Mutation Spectrum and Genotype-Phenotype Correlations in 27 Chinese Han Families. 71
28450710 2017
2
Sporadic and Familial Congenital Cataracts: Mutational Spectrum and New Diagnoses Using Next-Generation Sequencing. 71
26694549 2016
3
Wolfram gene (WFS1) mutation causes autosomal dominant congenital nuclear cataract in humans. 71
23531866 2013
4
Mutations in FYCO1 cause autosomal-recessive congenital cataracts. 71
21636066 2011
5
Identification of a novel CRYAB mutation associated with autosomal recessive juvenile cataract in a Saudi family. 71
19461931 2009
6
Dominant cataract formation in association with a vimentin assembly disrupting mutation. 71
19126778 2009
7
Identification of a CRYAB mutation associated with autosomal dominant posterior polar cataract in a Chinese family. 71
16877416 2006
8
A novel alphaB-crystallin mutation associated with autosomal dominant congenital lamellar cataract. 71
16505043 2006
9
Alpha-B crystallin gene (CRYAB) mutation causes dominant congenital posterior polar cataract in humans. 71
11577372 2001
10
A gene causing autosomal recessive cataract maps to the short arm of chromosome 3. 71
11519376 2001

Variations for Early-Onset Partial Cataract

Expression for Early-Onset Partial Cataract

Search GEO for disease gene expression data for Early-Onset Partial Cataract.

Pathways for Early-Onset Partial Cataract

GO Terms for Early-Onset Partial Cataract

Sources for Early-Onset Partial Cataract

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
Content
Loading form....