CCV
MCID: CTR095
MIFTS: 31

Cataract 8, Multiple Types (CCV)

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

Aliases & Classifications for Cataract 8, Multiple Types

MalaCards integrated aliases for Cataract 8, Multiple Types:

Name: Cataract 8, Multiple Types 58 13
Cataract, Congenital, Volkmann Type 58 12 74
Ccv 58 12 54
Cataract Congenital Volkmann Type 77 54
Cataract 8 Multiple Types 12 15
Ctrct8 58 12
Cataract, Congenital, Volkmann Type; Ccv 58

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant


HPO:

33
cataract 8, multiple types:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110228
OMIM 58 115665
ICD10 34 Q12.0
MedGen 43 C1861833
UMLS 74 C1861833

Summaries for Cataract 8, Multiple Types

OMIM : 58 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, also known as cataract, congenital, volkmann type, is related to undetermined early-onset epileptic encephalopathy. 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, and related phenotypes are nuclear cataract and progressive visual loss

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

Wikipedia : 77 Congenital cataracts refers to a lens opacity present at birth. Congenital cataracts cover a broad... more...

Related Diseases for Cataract 8, Multiple Types

Symptoms & Phenotypes for Cataract 8, Multiple Types

Human phenotypes related to Cataract 8, Multiple Types:

33
# Description HPO Frequency HPO Source Accession
1 nuclear cataract 33 very rare (1%) HP:0100018
2 progressive visual loss 33 HP:0000529
3 developmental cataract 33 HP:0000519

Symptoms via clinical synopsis from OMIM:

58
Eyes:
progressive visual loss
congenital cataract

Clinical features from OMIM:

115665

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

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00240-S-1 9.28 CLINT1 CWC15 HIP1R SH3BP4
2 Decreased viability GR00381-A-1 9.28 CLINT1
3 Decreased viability GR00402-S-2 9.28 CLINT1 CWC15 HIP1R SH3BP4

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:

42
Eye

Publications for Cataract 8, Multiple Types

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 CLTC DNAJC6 HIP1R NECAP1 NECAP2
2
Show member pathways
11.73 CLINT1 CLTC DNAJC6 HIP1R NECAP1
3
Show member pathways
11.39 CLTC DNAJC6 HIP1R NECAP1 NECAP2

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 9.7 CLINT1 CLTC HIP1R NECAP1 NECAP2 SCYL2
2 intracellular membrane-bounded organelle GO:0043231 9.67 CLINT1 CLTC DNAJC6 HIP1R
3 clathrin-coated vesicle membrane GO:0030665 9.43 HIP1R NECAP1 NECAP2
4 clathrin-coated vesicle GO:0030136 9.35 CLINT1 CLTC HIP1R SCYL2 SH3BP4
5 clathrin vesicle coat GO:0030125 9.32 NECAP1 NECAP2
6 clathrin-coated pit GO:0005905 9.02 CLTC HIP1R NECAP1 NECAP2 SH3BP4

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

# Name GO ID Score Top Affiliating Genes
1 receptor-mediated endocytosis GO:0006898 9.54 CLTC DNAJC6 HIP1R
2 membrane organization GO:0061024 9.46 CLTC DNAJC6 HIP1R NECAP1
3 clathrin-dependent endocytosis GO:0072583 9.32 CLTC DNAJC6
4 regulation of clathrin-dependent endocytosis GO:2000369 9.26 DNAJC6 HIP1R
5 clathrin coat assembly GO:0048268 9.13 CLINT1 CLTC HIP1R
6 endocytosis GO:0006897 9.02 CLINT1 HIP1R 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 light chain binding GO:0032051 8.96 CLTC HIP1R
2 clathrin binding GO:0030276 8.8 CLINT1 DNAJC6 HIP1R

Sources for Cataract 8, Multiple Types

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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