CTRCT4
MCID: CTR103
MIFTS: 45

Cataract 4, Multiple Types (CTRCT4)

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

Aliases & Classifications for Cataract 4, Multiple Types

MalaCards integrated aliases for Cataract 4, Multiple Types:

Name: Cataract 4, Multiple Types 56 73 13 71
Aculeiform Cataract 73 29 6
Ctrct4 56 12 73
Cca3 56 12 73
Cataract 4, Multiple Types, with or Without Microcornea 56 73
Cataract, Congenital, Cerulean Type, 3 56 71
Congenital Cataract Cerulean Type 3 12 73
Cataract 4 Multiple Types 12 15
Caca 56 73
Pcc 56 73
Cataract 4 Multiple Types with or Without Microcornea 12
Cataract, Nonnuclear Polymorphic Congenital; Pcc 56
Cataract, Punctate, Progressive Juvenile-Onset 56
Punctate, Progressive Juvenile-Onset, Cataract 73
Cataract, Congenital, Cerulean Type, 3; Cca3 56
Cataract, Nonnuclear Polymorphic Congenital 56
Congenital Non-Nuclear Polymorphic Cataract 73
Cataract, Crystalline Aculeiform; Caca 56
Congenital Cataract Blue Dot Type 3 73
Cataract, Crystalline Aculeiform 56
Crystalline Aculeiform Cataract 73
Ccp 73

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant


HPO:

31
cataract 4, multiple types:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110234
OMIM 56 115700
OMIM Phenotypic Series 56 PS116200
MeSH 43 D002386
ICD10 32 Q12.0
SNOMED-CT via HPO 68 263681008 609587005 79410001
UMLS 71 C1837023 C3540850

Summaries for Cataract 4, Multiple Types

UniProtKB/Swiss-Prot : 73 Cataract 4, multiple types: An opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. CTRCT4 includes crystalline aculeiform, congenital cerulean and non-nuclear polymorphic cataracts, among others. Crystalline aculeiform cataract is characterized by fiberglass-like or needle-like crystals projecting in different directions, through or close to the axial region of the lens. Non- nuclear polymorphic cataract is a partial opacity with variable location between the fetal nucleus of the lens and the equator. The fetal nucleus is normal. The opacities are irregular and look similar to a bunch of grapes and may be present simultaneously in different lens layers. Congenital cerulean cataract is characterized by peripheral bluish and white opacifications organized in concentric layers with occasional central lesions arranged radially. The opacities are observed in the superficial layers of the fetal nucleus as well as the adult nucleus of the lens. Involvement is usually bilateral. Visual acuity is only mildly reduced in childhood. In adulthood, the opacifications may progress, making lens extraction necessary. Histologically the lesions are described as fusiform cavities between lens fibers which contain a deeply staining granular material. Although the lesions may take on various colors, a dull blue is the most common appearance and is responsible for the designation cerulean cataract.

MalaCards based summary : Cataract 4, Multiple Types, also known as aculeiform cataract, is related to choledocholithiasis and deficiency anemia. An important gene associated with Cataract 4, Multiple Types is CRYGD (Crystallin Gamma D), and among its related pathways/superpathways are NRF2 pathway and Eicosanoid Synthesis. The drugs Cisplatin and Gemcitabine have been mentioned in the context of this disorder. Affiliated tissues include eye, thyroid and bone, and related phenotype is developmental cataract.

Disease Ontology : 12 A cataract that has material basis in heterozygous mutation in the gamma-D-crystallin gene (CRYGD) on chromosome 2q33.

OMIM : 56 Mutations in the CRYGD gene have been found to cause multiple types of cataract, which have been described as aculeiform, crystalline aculeiform, crystalline, crystal, frosted, needle-shaped, fasciculiform, congenital cerulean, nonnuclear polymorphic congenital, central nuclear, lamellar, and punctate. Some patients also exhibit microcornea. Because multiple types of cataract are caused by mutation in the CRYGD gene, some of which display intrafamilial variability, several earlier distinct cataract entries in OMIM have been included here. (115700)

Related Diseases for Cataract 4, 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 4, Multiple Types via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 196)
# Related Disease Score Top Affiliating Genes
1 choledocholithiasis 30.3 GGTLC3 GGT2 GGT1
2 deficiency anemia 29.8 GGTLC3 GGT2 GGT1 GGCT
3 pheochromocytoma 12.0
4 propionic acidemia 11.8
5 hereditary paraganglioma-pheochromocytoma syndromes 11.8
6 cataract congenital dominant non nuclear 11.6
7 palindromic rheumatism 11.6
8 microcephaly 1, primary, autosomal recessive 11.4
9 iron metabolism disease 10.7
10 rheumatoid arthritis 10.7
11 cataract 10.7
12 helix syndrome 10.6
13 autoimmune disease 10.5
14 synovitis 10.4
15 arthritis 10.4
16 rheumatic disease 10.4
17 juvenile rheumatoid arthritis 10.4
18 triiodothyronine receptor auxiliary protein 10.4
19 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 10.4
20 bile duct rhabdomyosarcoma 10.3 GGTLC3 GGT2 GGT1
21 bile duct sarcoma 10.3 GGTLC3 GGT2 GGT1
22 splenic tuberculosis 10.3 GGTLC3 GGT2 GGT1
23 gallbladder papillary carcinoma 10.3 GGTLC3 GGT2 GGT1
24 psoriatic arthritis 10.3
25 extrahepatic bile duct adenoma 10.3 GGTLC3 GGT2 GGT1
26 optic nerve astrocytoma 10.3 GGTLC3 GGT2 GGT1
27 myasthenic syndrome, congenital, 3b, fast-channel 10.3 GGTLC3 GGT2 GGT1
28 ascending cholangitis 10.3 GGTLC3 GGT2
29 algoneurodystrophy 10.3 GGTLC3 GGT2 GGT1
30 giant axonal neuropathy 1, autosomal recessive 10.3 GGTLC3 GGT2 GGT1
31 acute cholangitis 10.3 GGTLC3 GGT2 GGT1
32 retinitis pigmentosa 48 10.3 GGTLC3 GGT2 GGT1
33 bile duct cysts 10.3 GGTLC3 GGT2 GGT1
34 suppurative cholangitis 10.3 GGTLC3 GGT2
35 viral laryngitis 10.3 GGTLC3 GGT2 GGT1
36 enthesopathy 10.3
37 connective tissue disease 10.3
38 bile acid synthesis defect, congenital, 3 10.3 GGTLC3 GGT2 GGT1
39 common bile duct disease 10.3 GGTLC3 GGT2 GGT1
40 bile acid synthesis defect, congenital, 1 10.3 GGTLC3 GGT2 GGT1
41 esophageal varix 10.3 GGTLC3 GGT2 GGT1
42 paraganglioma 10.3
43 adrenal gland pheochromocytoma 10.3
44 47,xyy 10.3
45 hepatic vascular disease 10.2 GGTLC3 GGT2 GGT1
46 autoimmune disease of urogenital tract 10.2 GGTLC3 GGT2 GGT1
47 muscular dystrophy, becker type 10.2
48 cataract 3, multiple types 10.2
49 muscular dystrophy 10.2
50 cerulean cataract 10.2

Graphical network of the top 20 diseases related to Cataract 4, Multiple Types:



Diseases related to Cataract 4, Multiple Types

Symptoms & Phenotypes for Cataract 4, Multiple Types

Human phenotypes related to Cataract 4, Multiple Types:

31
# Description HPO Frequency HPO Source Accession
1 developmental cataract 31 HP:0000519

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Eyes:
congenital cataract
crystalline cataract

Clinical features from OMIM:

115700

Drugs & Therapeutics for Cataract 4, Multiple Types

Drugs for Cataract 4, Multiple Types (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 11)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Cisplatin Approved Phase 3 15663-27-1 84093 441203 2767
2
Gemcitabine Approved Phase 3 95058-81-4 60750
3 Anti-Infective Agents Phase 3
4 Antiviral Agents Phase 3
5 Antimetabolites Phase 3
6 Immunosuppressive Agents Phase 3
7 Immunologic Factors Phase 3
8 Kava Approved, Investigational, Nutraceutical 9000-38-8
9 Antihypertensive Agents
10 Anesthetics
11 Central Nervous System Depressants

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Phase 3, Open-Label, Randomized Study of Futibatinib Versus Gemcitabine-Cisplatin Chemotherapy as First-Line Treatment of Patients With Advanced Cholangiocarcinoma Harboring FGFR2 Gene Rearrangements FOENIX-CCA3 Not yet recruiting NCT04093362 Phase 3 TAS-120;Cisplatin/Gemcitabine
2 Transthoracic Echocardiography of Inferior Vena Cava Before Spinal Anesthesia Can Predict Hypotension in Elderly Orthopaedic Patients Completed NCT03266250

Search NIH Clinical Center for Cataract 4, Multiple Types

Genetic Tests for Cataract 4, Multiple Types

Genetic tests related to Cataract 4, Multiple Types:

# Genetic test Affiliating Genes
1 Aculeiform Cataract 29

Anatomical Context for Cataract 4, Multiple Types

MalaCards organs/tissues related to Cataract 4, Multiple Types:

40
Eye, Thyroid, Bone, Heart, Lung, T Cells, Pituitary

Publications for Cataract 4, Multiple Types

Articles related to Cataract 4, Multiple Types:

(show all 21)
# Title Authors PMID Year
1
Genetic heterogeneity in microcornea-cataract: five novel mutations in CRYAA, CRYGD, and GJA8. 56 6
17724170 2007
2
Conversion and compensatory evolution of the gamma-crystallin genes and identification of a cataractogenic mutation that reverses the sequence of the human CRYGD gene to an ancestral state. 56 6
17564961 2007
3
Gamma-D crystallin gene (CRYGD) mutation causes autosomal dominant congenital cerulean cataracts. 56 6
12676897 2003
4
Novel mutations in the gamma-crystallin genes cause autosomal dominant congenital cataracts. 56 6
12011157 2002
5
Crystal cataracts: human genetic cataract caused by protein crystallization. 56 6
11371638 2001
6
Link between a novel human gammaD-crystallin allele and a unique cataract phenotype explained by protein crystallography. 56 6
10915766 2000
7
The gamma-crystallins and human cataracts: a puzzle made clearer. 56 6
10521291 1999
8
Progressive juvenile-onset punctate cataracts caused by mutation of the gammaD-crystallin gene. 56 6
9927684 1999
9
Evidence of clinical and genetic heterogeneity in autosomal dominant congenital cerulean cataracts. 56
12567263 2002
10
Gene localization for aculeiform cataract, on chromosome 2q33-35. 56
9718335 1998
11
Linkage of polymorphic congenital cataract to the gamma-crystallin gene locus on human chromosome 2q33-35. 56
8733140 1996
12
Effects of inhaled anesthetic isoflurane on long-term potentiation of CA3 pyramidal cell afferents in vivo. 61
23204857 2012
13
Simultaneous recording of the field-EPSP as well as the population spike in the CA1 region in freely moving rats by using a fixed "double"-recording electrode. 61
20105443 2010
14
Paired-pulse depression of excitatory postsynaptic current sinks in hippocampal CA1 in vivo. 61
18548580 2008
15
Identification and in silico analysis of a new group of double-histone fold-containing proteins. 61
16247600 2005
16
Isolation of a novel cDNA whose corresponding mRNA is accumulated in growth-arrested confluent but not in growing sub-confluent rat 3Y1 cells. 61
9199244 1997
17
Cca3, the mRNA level of which transiently decreases before initiation of DNA synthesis in regenerating rat liver cells. 61
9109406 1997
18
(+/-) CPP, an NMDA receptor antagonist, blocks the induction of commissural-CA3 LTP in the anesthetized rat. 61
7804841 1994
19
Induction of paroxysmal discharges in the dentate gyrus: frequency dependence and relationship to afterdischarge production. 61
2754466 1989
20
Elimination of long-term potentiation in the hippocampus by phencyclidine and ketamine. 61
24010182 1983
21
Effect of phencyclidines on hippocampal pyramidal cells. 61
6817848 1982

Variations for Cataract 4, Multiple Types

ClinVar genetic disease variations for Cataract 4, Multiple Types:

6 (show all 15) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CRYGD NM_006891.4(CRYGD):c.43C>T (p.Arg15Cys)SNV Pathogenic 16937 rs121909595 2:208989045-208989045 2:208124321-208124321
2 CRYGD NM_006891.4(CRYGD):c.176G>A (p.Arg59His)SNV Pathogenic 16938 rs121909596 2:208988912-208988912 2:208124188-208124188
3 CRYGD NM_006891.4(CRYGD):c.109C>A (p.Arg37Ser)SNV Pathogenic 16939 rs121909597 2:208988979-208988979 2:208124255-208124255
4 CRYGD NM_006891.4(CRYGD):c.70C>A (p.Pro24Thr)SNV Pathogenic 16940 rs28931605 2:208989018-208989018 2:208124294-208124294
5 CRYGD NM_006891.4(CRYGD):c.470G>A (p.Trp157Ter)SNV Pathogenic 16941 rs121909598 2:208986452-208986452 2:208121728-208121728
6 CRYGD NM_006891.4(CRYGD):c.70C>T (p.Pro24Ser)SNV Pathogenic 16942 rs28931605 2:208989018-208989018 2:208124294-208124294
7 CRYGD NM_006891.4(CRYGD):c.402C>A (p.Tyr134Ter)SNV Pathogenic 68462 rs398122948 2:208986520-208986520 2:208121796-208121796
8 CRYGD NM_006891.4(CRYGD):c.418C>T (p.Arg140Ter)SNV Pathogenic 574060 rs1337897299 2:208986504-208986504 2:208121780-208121780
9 CRYGD NM_006891.4(CRYGD):c.475del (p.Ala159fs)deletion Likely pathogenic 574299 rs764945940 2:208986447-208986447 2:208121723-208121723
10 CRYGD NM_006891.4(CRYGD):c.252C>G (p.His84Gln)SNV Uncertain significance 657292 2:208988836-208988836 2:208124112-208124112
11 CRYGD NM_006891.4(CRYGD):c.22_26delinsCCTTGCAGATCAC (p.Glu8fs)indel Uncertain significance 468228 rs1553584085 2:208989062-208989066 2:208124338-208124342
12 CRYGD NM_006891.4(CRYGD):c.400_410del (p.Tyr134fs)deletion Uncertain significance 536128 rs1553583314 2:208986512-208986522 2:208121788-208121798
13 CRYGD NM_006891.4(CRYGD):c.155C>G (p.Ser52Trp)SNV Uncertain significance 536129 rs762200707 2:208988933-208988933 2:208124209-208124209
14 CRYGD NM_006891.4(CRYGD):c.168C>G (p.Tyr56Ter)SNV Benign/Likely benign 333874 rs202233735 2:208988920-208988920 2:208124196-208124196
15 CRYGD NM_006891.4(CRYGD):c.63C>T (p.Ser21=)SNV Benign 468229 rs150961505 2:208989025-208989025 2:208124301-208124301

UniProtKB/Swiss-Prot genetic disease variations for Cataract 4, Multiple Types:

73
# Symbol AA change Variation ID SNP ID
1 CRYGD p.Arg15Cys VAR_010733 rs121909595
2 CRYGD p.Arg37Ser VAR_010734 rs121909597
3 CRYGD p.Arg59His VAR_010735 rs121909596
4 CRYGD p.Pro24Thr VAR_021145 rs28931605
5 CRYGD p.Pro24Ser VAR_034955 rs28931605
6 CRYGD p.Glu107Ala VAR_034956
7 CRYGD p.Trp43Arg VAR_064829

Expression for Cataract 4, Multiple Types

Search GEO for disease gene expression data for Cataract 4, Multiple Types.

Pathways for Cataract 4, Multiple Types

Pathways related to Cataract 4, Multiple Types according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.49 SLC6A11 GGT2 GGT1
2 10.34 GGT2 GGT1
3 9.98 GGT2 GGT1

GO Terms for Cataract 4, Multiple Types

Cellular components related to Cataract 4, Multiple Types according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular exosome GO:0070062 9.23 SRSF7 SERPINA3 GGTLC3 GGT2 GGT1 GGCT

Biological processes related to Cataract 4, Multiple Types according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 zymogen activation GO:0031638 9.37 GGT2 GGT1
2 glutathione biosynthetic process GO:0006750 9.32 GGT1 GGCT
3 regulation of immune system process GO:0002682 9.26 GGT2 GGT1
4 peptide modification GO:0031179 9.16 GGT2 GGT1
5 leukotriene D4 biosynthetic process GO:1901750 9.13 GGTLC3 GGT2 GGT1
6 glutathione catabolic process GO:0006751 8.8 GGTLC3 GGT2 GGT1

Molecular functions related to Cataract 4, Multiple Types according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 peptidyltransferase activity GO:0000048 8.96 GGT2 GGT1
2 glutathione hydrolase activity GO:0036374 8.8 GGTLC3 GGT2 GGT1

Sources for Cataract 4, 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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