CTRCT8
MCID: CTR095
MIFTS: 35

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 56
Cataract, Congenital, Volkmann Type 56 12 13 71
Ccv 56 12 52
Cataract Congenital Volkmann Type 74 52
Cataract 8 Multiple Types 12 15
Ctrct8 56 12
Cataract, Congenital, Volkmann Type; Ccv 56

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant


HPO:

31
cataract 8, multiple types:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110228
OMIM 56 115665
OMIM Phenotypic Series 56 PS116200
ICD10 32 Q12.0
MedGen 41 C1861833
UMLS 71 C1861833

Summaries for Cataract 8, Multiple Types

OMIM : 56 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 atypical juvenile parkinsonism and human monocytic ehrlichiosis. 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 wtCFTR and delta508-CFTR traffic / Generic schema (norm and CF). Affiliated tissues include eye and monocytes, 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 : 74 Congenital cataracts refers to a lens opacity present at birth. Congenital cataracts cover a broad... more...

Related Diseases for Cataract 8, Multiple Types

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 48 Cataract 30
Cataract 33 Cataract Congenital Autosomal Dominant
Cataract, Total Congenital

Diseases related to Cataract 8, Multiple Types via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 atypical juvenile parkinsonism 10.2 SYNJ1 DNAJC6
2 human monocytic ehrlichiosis 10.1 RAB5A EEA1
3 undetermined early-onset epileptic encephalopathy 10.0 SYNJ1 NECAP1 CLTC
4 neuropathy, congenital hypomyelinating, 1, autosomal recessive 9.7 SYNJ1 SNX9 DNM2 CLINT1
5 parkinson disease, late-onset 9.2 SYNJ1 RAB5A IGF2R HSPA8 HIP1R GAK
6 charcot-marie-tooth disease 9.2 SYNJ1 RAB5A EEA1 DNM2 ARF1

Graphical network of the top 20 diseases related to Cataract 8, Multiple Types:



Diseases related to Cataract 8, Multiple Types

Symptoms & Phenotypes for Cataract 8, Multiple Types

Human phenotypes related to Cataract 8, Multiple Types:

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

Symptoms via clinical synopsis from OMIM:

56
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 (show all 18)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-11 10.02 DNM2
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-111 10.02 AAK1
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-116 10.02 AAK1 DNM2
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-145 10.02 AAK1 DNM2
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-148 10.02 DNM2
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-171 10.02 AAK1
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-179 10.02 DNAJC6
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-181 10.02 AAK1 DNAJC6
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-204 10.02 AAK1
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-216 10.02 DNM2
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-27 10.02 AAK1
12 Decreased shRNA abundance (Z-score < -2) GR00366-A-53 10.02 AAK1 DNAJC6 DNM2 GAK
13 Decreased shRNA abundance (Z-score < -2) GR00366-A-55 10.02 GAK
14 Decreased shRNA abundance (Z-score < -2) GR00366-A-75 10.02 DNAJC6
15 Decreased shRNA abundance (Z-score < -2) GR00366-A-79 10.02 DNAJC6
16 Decreased shRNA abundance (Z-score < -2) GR00366-A-84 10.02 DNM2
17 Decreased shRNA abundance (Z-score < -2) GR00366-A-91 10.02 DNAJC6
18 shRNA abundance <= 50% GR00343-S 9.32 AAK1 CLTC DNAJC6 DNM2 EEA1 GAK

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:

40
Eye, Monocytes

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. 56
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. 56
8808597 1996
3
Assignment of congenital cataract Volkmann type (CCV) to chromosome 1p36. 56
7607651 1995
4
Autosomal dominant congenital cataract; linkage relations; clinical and genetic heterogeneity. 56
1544213 1992
5
A splice-site variant in the lncRNA gene RP1-140A9.1 cosegregates in the large Volkmann cataract family. 61
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:

(show all 11)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.66 SYNJ1 SNX9 SNAP91 RAB5A NECAP1 IGF2R
2
Show member pathways
12.4 SNX9 SNAP91 RAB5A HIP1R EPS15 EEA1
3 12.31 RAB5A IGF2R HSPA8 EPS15 EEA1 DNM2
4
Show member pathways
12.27 SNX9 NECAP1 IGF2R HSPA8 HIP1R GAK
5 12.25 RAB5A EEA1 DNM2 CLTC
6
Show member pathways
12.17 SYNJ1 SNX9 SNAP91 RAB5A NECAP1 IGF2R
7
Show member pathways
11.77 HSPA8 DNM2 CLTC
8 11.74 IGF2R GGA2 CLTC
9 11.62 DNM2 CLTC ARF1
10
Show member pathways
11.56 RAB5A EPS15 DNM2 CLTC
11 11.11 SYNJ1 RAB5A EPS15

GO Terms for Cataract 8, Multiple Types

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

(show all 25)
# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 10.44 SNX9 SNAP91 SCYL2 RAB5A NECAP1 IGF2R
2 cytoplasm GO:0005737 10.41 SYNJ1 SNX9 SCYL2 RAB5A HSPA8 HIP1R
3 plasma membrane GO:0005886 10.38 SNX9 SNAP91 RAB5A NECAP1 IGF2R HSPA8
4 cytosol GO:0005829 10.35 SYNJ1 SNX9 RAB5A NECAP1 HSPA8 HIP1R
5 extracellular exosome GO:0070062 10.21 SNX9 RAB5A IGF2R HSPA8 EEA1 DNM2
6 Golgi apparatus GO:0005794 10.13 SNX9 SCYL2 IGF2R GGA2 GAK DNM2
7 intracellular membrane-bounded organelle GO:0043231 10.05 HIP1R GAK EPS15 DNAJC6 CLTC CLINT1
8 focal adhesion GO:0005925 9.97 IGF2R HSPA8 GAK DNM2 CLTC ARF1
9 perinuclear region of cytoplasm GO:0048471 9.92 SYNJ1 SCYL2 IGF2R HIP1R GAK DNM2
10 postsynaptic density GO:0014069 9.9 HIP1R DNM2 DNAJC6 ARF1
11 early endosome GO:0005769 9.88 RAB5A IGF2R EPS15 EEA1
12 endosome GO:0005768 9.86 SCYL2 RAB5A IGF2R GGA2 EPS15 EEA1
13 early endosome membrane GO:0031901 9.85 RAB5A GGA2 EPS15 EEA1
14 trans-Golgi network GO:0005802 9.85 SNX9 IGF2R GGA2 DNM2 ARF1
15 presynapse GO:0098793 9.84 SYNJ1 GAK DNM2 DNAJC6
16 cytoplasmic vesicle GO:0031410 9.81 SNX9 SCYL2 RAB5A NECAP1 HIP1R EEA1
17 melanosome GO:0042470 9.77 RAB5A HSPA8 CLTC
18 clathrin-coated vesicle membrane GO:0030665 9.73 RAB5A NECAP1 IGF2R HIP1R
19 terminal bouton GO:0043195 9.71 SYNJ1 RAB5A HSPA8 AAK1
20 clathrin-coated endocytic vesicle GO:0045334 9.62 DNM2 CLTC
21 extrinsic component of plasma membrane GO:0019897 9.62 EEA1 AAK1
22 clathrin coat GO:0030118 9.56 IGF2R CLTC
23 clathrin coat of coated pit GO:0030132 9.54 SYNJ1 EPS15 CLTC
24 clathrin-coated pit GO:0005905 9.5 SNAP91 NECAP1 HIP1R EPS15 DNM2 CLTC
25 clathrin-coated vesicle GO:0030136 9.28 SNX9 SNAP91 SCYL2 HIP1R GGA2 EPS15

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

(show all 24)
# Name GO ID Score Top Affiliating Genes
1 protein transport GO:0015031 10 SNX9 SNAP91 RAB5A NECAP1 GGA2 EPS15
2 intracellular protein transport GO:0006886 9.93 SNX9 RAB5A GGA2 CLTC ARF1
3 vesicle-mediated transport GO:0016192 9.88 HSPA8 GGA2 CLTC CLINT1 ARF1
4 receptor-mediated endocytosis GO:0006898 9.8 SNX9 IGF2R HIP1R GAK DNM2 DNAJC6
5 antigen processing and presentation of exogenous peptide antigen via MHC class II GO:0019886 9.77 DNM2 CLTC ARF1
6 phosphatidylinositol biosynthetic process GO:0006661 9.76 SYNJ1 RAB5A ARF1
7 clathrin-dependent endocytosis GO:0072583 9.71 SNAP91 GAK DNAJC6 CLTC
8 synaptic vesicle endocytosis GO:0048488 9.7 SYNJ1 SNAP91 DNM2
9 endocytosis GO:0006897 9.7 SYNJ1 SNX9 SNAP91 RAB5A NECAP1 HIP1R
10 positive regulation of endocytosis GO:0045807 9.62 DNM2 ARF1
11 regulation of clathrin-dependent endocytosis GO:2000369 9.62 SNAP91 HIP1R DNAJC6 AAK1
12 positive regulation of receptor-mediated endocytosis GO:0048260 9.61 SYNJ1 HIP1R
13 early endosome to late endosome transport GO:0045022 9.61 RAB5A EEA1
14 synaptic vesicle uncoating GO:0016191 9.61 SYNJ1 GAK DNAJC6
15 synaptic vesicle transport GO:0048489 9.6 SYNJ1 DNM2
16 postsynaptic neurotransmitter receptor internalization GO:0098884 9.58 EPS15 DNM2
17 viral RNA genome replication GO:0039694 9.57 RAB5A EEA1
18 amyloid-beta clearance by transcytosis GO:0150093 9.56 RAB5A CLTC
19 synaptic vesicle budding from presynaptic endocytic zone membrane GO:0016185 9.55 SNAP91 DNM2
20 clathrin coat assembly GO:0048268 9.55 SNAP91 HIP1R EPS15 CLTC CLINT1
21 clathrin coat disassembly GO:0072318 9.54 HSPA8 GAK DNAJC6
22 positive regulation of clathrin-dependent endocytosis GO:2000370 9.51 SCYL2 DNM2
23 receptor internalization involved in canonical Wnt signaling pathway GO:2000286 9.49 SCYL2 RAB5A
24 membrane organization GO:0061024 9.44 SYNJ1 SNX9 RAB5A NECAP1 IGF2R HSPA8

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

# Name GO ID Score Top Affiliating Genes
1 cadherin binding GO:0045296 9.62 SNX9 HSPA8 EPS15 CLINT1
2 SH3 domain binding GO:0017124 9.35 SYNJ1 HIP1R EPS15 DNM2 DNAJC6
3 1-phosphatidylinositol binding GO:0005545 9.33 SNX9 SNAP91 EEA1
4 clathrin light chain binding GO:0032051 9.26 HIP1R CLTC
5 clathrin binding GO:0030276 9.02 SNAP91 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 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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