CTRCT8
MCID: CTR095
MIFTS: 29

Cataract 8, Multiple Types (CTRCT8)

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 57
Cataract, Congenital, Volkmann Type 57 12 13 72
Ccv 57 12 53
Cataract Congenital Volkmann Type 75 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:

Disease Ontology 12 DOID:0110228
ICD10 33 Q12.0
MedGen 42 C1861833
UMLS 72 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, 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 : 75 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:

32
# Description HPO Frequency HPO Source Accession
1 nuclear cataract 32 very rare (1%) HP:0100018
2 progressive visual loss 32 HP:0000529
3 developmental cataract 32 HP:0000519

Symptoms via clinical synopsis from OMIM:

57
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:

26
# 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:

41
Eye

Publications for Cataract 8, Multiple Types

Articles related to Cataract 8, Multiple Types:

# Title Authors PMID Year
1
The genetics of cataract: our vision becomes clearer. 8
9497271 1998
2
Genetic recombination at the human RH locus: a family study of the red-cell Evans phenotype reveals a transfer of exons 2-6 from the RHD to the RHCE gene. 8
8808597 1996
3
Assignment of congenital cataract Volkmann type (CCV) to chromosome 1p36. 8
7607651 1995
4
Autosomal dominant congenital cataract; linkage relations; clinical and genetic heterogeneity. 8
1544213 1992
5
A splice-site variant in the lncRNA gene RP1-140A9.1 cosegregates in the large Volkmann cataract family. 38
30820140 2019

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 NECAP2 NECAP1 HIP1R GAK DNAJC6 CLTC
2
Show member pathways
11.81 NECAP1 HIP1R GAK DNAJC6 CLTC CLINT1
3
Show member pathways
11.47 NECAP2 NECAP1 HIP1R GAK DNAJC6 CLTC

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 intracellular membrane-bounded organelle GO:0043231 9.77 HIP1R GAK DNAJC6 CLTC CLINT1
2 perinuclear region of cytoplasm GO:0048471 9.71 SCYL2 HIP1R GAK CLINT1
3 cytoplasmic vesicle GO:0031410 9.7 SH3BP4 SCYL2 NECAP2 NECAP1 HIP1R CLTC
4 clathrin-coated vesicle membrane GO:0030665 9.5 NECAP2 NECAP1 HIP1R
5 clathrin-coated vesicle GO:0030136 9.35 SH3BP4 SCYL2 HIP1R CLTC CLINT1
6 clathrin vesicle coat GO:0030125 9.26 NECAP2 NECAP1
7 clathrin-coated pit GO:0005905 9.02 SH3BP4 NECAP2 NECAP1 HIP1R CLTC

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 9.67 HIP1R GAK DNAJC6 CLTC
2 regulation of clathrin-dependent endocytosis GO:2000369 9.43 HIP1R DNAJC6
3 clathrin-dependent endocytosis GO:0072583 9.43 GAK DNAJC6 CLTC
4 synaptic vesicle uncoating GO:0016191 9.4 GAK DNAJC6
5 endocytosis GO:0006897 9.35 SH3BP4 NECAP2 NECAP1 HIP1R CLINT1
6 clathrin coat assembly GO:0048268 9.33 HIP1R CLTC CLINT1
7 clathrin coat disassembly GO:0072318 9.32 GAK DNAJC6
8 membrane organization GO:0061024 9.02 NECAP1 HIP1R GAK DNAJC6 CLTC

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 HIP1R CLTC
2 clathrin binding GO:0030276 8.92 HIP1R GAK DNAJC6 CLINT1

Sources for Cataract 8, Multiple Types

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
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