CCV
MCID: CTR095
MIFTS: 29

Cataract 8, Multiple Types (CCV)

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

Aliases & Classifications for Cataract 8, Multiple Types

MalaCards integrated aliases for Cataract 8, Multiple Types:

Name: Cataract 8, Multiple Types 57 13
Cataract, Congenital, Volkmann Type 57 12 73
Ccv 57 12 53
Cataract Congenital Volkmann Type 76 53
Cataract 8 Multiple Types 12 15
Ctrct8 57 12
Cataract, Congenital, Volkmann Type; Ccv 57

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
cataract 8, multiple types:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 115665
Disease Ontology 12 DOID:0110228
ICD10 33 Q12.0
MedGen 42 C1861833
UMLS 73 C1861833

Summaries for Cataract 8, Multiple Types

OMIM : 57 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. 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 progressive visual loss and congenital cataract

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

Wikipedia : 76 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:

57
Eyes:
progressive visual loss
congenital cataract


Clinical features from OMIM:

115665

Human phenotypes related to Cataract 8, Multiple Types:

32
# Description HPO Frequency HPO Source Accession
1 progressive visual loss 32 HP:0000529
2 congenital cataract 32 HP:0000519
3 nuclear cataract 32 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:

41
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
12.8 CLINT1 CLVS2 DNAJC6 HIP1R NECAP1 NECAP2
2
Show member pathways
11.73 CLINT1 CLVS2 DNAJC6 HIP1R NECAP1
3
Show member pathways
11.39 DNAJC6 HIP1R 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 9.7 CLINT1 CLVS2 HIP1R NECAP1 NECAP2 SCYL2
2 clathrin-coated vesicle membrane GO:0030665 9.43 HIP1R NECAP1 NECAP2
3 clathrin-coated pit GO:0005905 9.35 HIP1R NECAP1 NECAP2 SH3BP4 SNAP91
4 clathrin vesicle coat GO:0030125 9.32 NECAP1 NECAP2
5 clathrin-coated vesicle GO:0030136 9.1 CLINT1 CLVS2 HIP1R 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 vesicle-mediated transport GO:0016192 9.54 CLINT1 NECAP1 NECAP2
2 membrane organization GO:0061024 9.43 DNAJC6 HIP1R NECAP1
3 endocytosis GO:0006897 9.35 CLINT1 HIP1R NECAP1 NECAP2 SH3BP4
4 clathrin coat assembly GO:0048268 9.33 CLINT1 HIP1R SNAP91
5 clathrin-dependent endocytosis GO:0072583 9.32 DNAJC6 HIP1R
6 regulation of clathrin-dependent endocytosis GO:2000369 8.8 DNAJC6 HIP1R SNAP91

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

# Name GO ID Score Top Affiliating Genes
1 phosphatidylinositol-3,5-bisphosphate binding GO:0080025 8.96 CLVS2 HIP1R
2 clathrin binding GO:0030276 8.92 CLINT1 DNAJC6 HIP1R SNAP91

Sources for Cataract 8, Multiple Types

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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