MCID: CTR095
MIFTS: 31

Cataract 8, Multiple Types

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

Aliases & Classifications for Cataract 8, Multiple Types

MalaCards integrated aliases for Cataract 8, Multiple Types:

Name: Cataract 8, Multiple Types 53 13
Cataract, Congenital, Volkmann Type 53 12 69
Ccv 53 12 49
Cataract Congenital Volkmann Type 72 49
Cataract 8 Multiple Types 12 14
Ctrct8 53 12
Cataract, Congenital, Volkmann Type; Ccv 53

Characteristics:

OMIM:

53
Inheritance:
autosomal dominant


HPO:

31
cataract 8, multiple types:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 53 115665
Disease Ontology 12 DOID:0110228
ICD10 32 Q12.0
MedGen 39 C1861833
UMLS 69 C1861833

Summaries for Cataract 8, Multiple Types

OMIM : 53 The Volkmann type of cataract has been variously described as progressive, central, or zonular, with opacities in the embryonic, fetal, and juvenile nucleus and around the anterior and posterior Y-suture. Expression is highly variable, ranging from hardly recognizable opacities in the lens to dense cataracts. Affected members may thus be unaware of having the disease (Eiberg et al., 1995). The preferred title/symbol of this entry was formerly 'Cataract, Congenital, Volkmann Type; CCV.' (115665)

MalaCards based summary : Cataract 8, Multiple Types, is also known as cataract, congenital, volkmann type, and has symptoms including congenital cataract, progressive visual loss and nuclear cataract. An important gene associated with Cataract 8, Multiple Types is CCV (Cataract, Congenital, Volkmann Type), and among its related pathways/superpathways are Vesicle-mediated transport and Clathrin derived vesicle budding. Affiliated tissues include eye.

Disease Ontology : 12 A cataract that has material basis in variation in the region 1pter-p36.13.

Wikipedia : 72 Congenital cataracts refers to a lens opacity present at birth. Congenital cataracts cover a broad... more...

Symptoms & Phenotypes for Cataract 8, Multiple Types

Symptoms via clinical synopsis from OMIM:

53
Eyes:
congenital cataract
progressive visual loss


Clinical features from OMIM:

115665

Human phenotypes related to Cataract 8, Multiple Types:

31
# Description HPO Frequency HPO Source Accession
1 congenital cataract 31 HP:0000519
2 progressive visual loss 31 HP:0000529
3 nuclear cataract 31 very rare (1%) HP:0100018

Drugs & Therapeutics for Cataract 8, Multiple Types

Search Clinical Trials , NIH Clinical Center for Cataract 8, Multiple Types

Genetic Tests for Cataract 8, Multiple Types

Anatomical Context for Cataract 8, Multiple Types

MalaCards organs/tissues related to Cataract 8, Multiple Types:

38
Eye

Publications for Cataract 8, Multiple Types

Articles related to Cataract 8, Multiple Types:

# Title Authors Year
1
Assignment of congenital cataract Volkmann type (CCV) to chromosome 1p36. ( 7607651 )
1995
2
Radiologic seminar CCV: CT in intracranial abscess. ( 6967524 )
1980

Variations for Cataract 8, Multiple Types

Expression for Cataract 8, Multiple Types

Search GEO for disease gene expression data for Cataract 8, Multiple Types.

Pathways for Cataract 8, Multiple Types

Pathways related to Cataract 8, Multiple Types according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.74 CLINT1 CLVS2 DNAJC6 NECAP1 NECAP2 SNAP91
2
Show member pathways
11.64 CLINT1 CLVS2 DNAJC6 NECAP1
3
Show member pathways
11.3 DNAJC6 NECAP1 NECAP2 SNAP91

GO Terms for Cataract 8, Multiple Types

Cellular components related to Cataract 8, Multiple Types according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytoplasmic vesicle GO:0031410 9.5 CLINT1 CLVS2 NECAP1 NECAP2 SCYL2 SH3BP4
2 clathrin-coated pit GO:0005905 9.46 NECAP1 NECAP2 SH3BP4 SNAP91
3 clathrin-coated vesicle membrane GO:0030665 9.32 NECAP1 NECAP2
4 clathrin vesicle coat GO:0030125 9.26 NECAP1 NECAP2
5 clathrin-coated vesicle GO:0030136 9.02 CLINT1 CLVS2 SCYL2 SH3BP4 SNAP91

Biological processes related to Cataract 8, Multiple Types according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 clathrin coat assembly GO:0048268 9.26 CLINT1 SNAP91
2 regulation of clathrin-dependent endocytosis GO:2000369 9.16 DNAJC6 SNAP91
3 positive regulation of clathrin-dependent endocytosis GO:2000370 8.96 DNAJC6 SCYL2
4 endocytosis GO:0006897 8.92 CLINT1 NECAP1 NECAP2 SH3BP4

Molecular functions related to Cataract 8, Multiple Types according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 clathrin binding GO:0030276 8.62 CLINT1 SNAP91

Sources for Cataract 8, Multiple Types

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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