MCID: CTR121
MIFTS: 28

Cataract 25

Categories: Rare diseases, Eye diseases, Genetic diseases, Metabolic diseases, Nephrological diseases, Neuronal diseases, Fetal diseases, Oral diseases

Aliases & Classifications for Cataract 25

MalaCards integrated aliases for Cataract 25:

Name: Cataract 25 53 12
Cataract, Central Saccular, with Sutural Opacities 53 13 69
Early-Onset Cataract with Y-Shaped Suture Opacities 12 55
Ctrct25 53 12
Ccsso 53 12
Cataract, Central Saccular, with Sutural Opacities; Ccsso 53
Cataract, Central Pouch-Like, with Sutural Opacities 53
Central Pouch-Like Cataract with Sutural Opacities 12
Central Saccular Cataract with Sutural Opacities 12
Early-Onset Sutural Cataract 55

Characteristics:

Orphanet epidemiological data:

55
early-onset sutural cataract
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal;

Classifications:



External Ids:

OMIM 53 605728
Disease Ontology 12 DOID:0110254
ICD10 32 Q12.0
Orphanet 55 ORPHA98985
UMLS via Orphanet 70 C1854021
ICD10 via Orphanet 33 Q12.0
MedGen 39 C1854021
UMLS 69 C1854021

Summaries for Cataract 25

Disease Ontology : 12 A cataract that has material basis in variation in the region 15q21-q22.

MalaCards based summary : Cataract 25, also known as cataract, central saccular, with sutural opacities, is related to cataract and cerulean cataract. An important gene associated with Cataract 25 is GJA8 (Gap Junction Protein Alpha 8). Affiliated tissues include eye, and related phenotype is vision/eye.

Description from OMIM: 605728

Related Diseases for Cataract 25

Diseases in the Cataract family:

Cataract 32, Multiple Types Cataract 7
Cataract 8, Multiple Types Cataract 4, Multiple Types
Cataract 29 Cataract 42
Cataract 20, Multiple Types Cataract 1, Multiple Types
Cataract 30, Multiple Types Cataract 41
Cataract 6, Multiple Types Cataract 5, Multiple Types
Cataract 46, Juvenile-Onset Cataract 40
Cataract 10, Multiple Types Cataract 24
Cataract 3, Multiple Types Cataract 14, Multiple Types
Cataract 9, Multiple Types Cataract 2, Multiple Types
Cataract 31, Multiple Types Cataract 25
Cataract 26, Multiple Types Cataract 27
Cataract 28 Cataract 35
Cataract 22, Multiple Types Cataract 18
Cataract 21, Multiple Types Cataract 23, Multiple Types
Cataract 11, Multiple Types Cataract 33, Multiple Types
Cataract 17, Multiple Types Cataract 12, Multiple Types
Cataract 47 Cataract 34, Multiple Types
Cataract 16, Multiple Types Cataract 36
Cataract 37 Cataract 38
Cataract 39, Multiple Types Cataract 15, Multiple Types
Cataract 19, Multiple Types Cataract 43
Cataract 44 Cataract 45
Cataract 30 Cataract 33
Cataract Congenital Autosomal Dominant Cataract, Total Congenital

Diseases related to Cataract 25 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 12)
# Related Disease Score Top Affiliating Genes
1 cataract 28.8 BFSP2 CRYBA1 CRYBB2 CRYGS CTRCT25 GJA8
2 cerulean cataract 9.8 CRYBB2 MIP
3 cataract microcornea syndrome 9.8 CRYBB2 GJA8
4 eye accommodation disease 9.7 BFSP2 CRYGS MIP
5 presbyopia 9.6 BFSP2 CRYGS MIP
6 cataract 30, multiple types 9.6 BFSP2 CRYBB2 GJA8
7 cataract 9, multiple types 9.6 CRYBB2 GJA8
8 cataract 44 9.6 CRYBB2 GJA8 MIP
9 mature cataract 9.6 CRYBB2 CRYGS MIP
10 cataract 16, multiple types 9.1 BFSP2 CRYBA1 CRYGS MIP
11 early-onset nuclear cataract 9.1 CRYBA1 CRYBB2 GJA8 MIP
12 lens disease 8.7 CRYBA1 CRYBB2 CRYGS GJA8 MIP

Graphical network of the top 20 diseases related to Cataract 25:



Diseases related to Cataract 25

Symptoms & Phenotypes for Cataract 25

Clinical features from OMIM:

605728

MGI Mouse Phenotypes related to Cataract 25:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 vision/eye MP:0005391 9.1 BFSP2 CRYBA1 CRYBB2 CRYGS GJA8 MIP

Drugs & Therapeutics for Cataract 25

Search Clinical Trials , NIH Clinical Center for Cataract 25

Genetic Tests for Cataract 25

Anatomical Context for Cataract 25

MalaCards organs/tissues related to Cataract 25:

38
Eye

Publications for Cataract 25

Variations for Cataract 25

Expression for Cataract 25

Search GEO for disease gene expression data for Cataract 25.

Pathways for Cataract 25

GO Terms for Cataract 25

Cellular components related to Cataract 25 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 gap junction GO:0005921 8.62 GJA8 MIP

Biological processes related to Cataract 25 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 response to stimulus GO:0050896 9.43 BFSP2 CRYBB2 MIP
2 visual perception GO:0007601 9.35 BFSP2 CRYBA1 CRYBB2 GJA8 MIP
3 camera-type eye development GO:0043010 9.16 CRYBB2 GJA8
4 lens development in camera-type eye GO:0002088 8.92 CRYBA1 CRYGS GJA8 MIP

Molecular functions related to Cataract 25 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 structural constituent of eye lens GO:0005212 9.02 BFSP2 CRYBA1 CRYBB2 CRYGS MIP
2 channel activity GO:0015267 8.96 GJA8 MIP

Sources for Cataract 25

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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