CTRCT4
MCID: CTR103
MIFTS: 32

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 58 76 13 74
Ctrct4 58 12 76
Cca3 58 12 76
Cataract 4, Multiple Types, with or Without Microcornea 58 76
Cataract, Congenital, Cerulean Type, 3 58 74
Congenital Cataract Cerulean Type 3 12 76
Cataract 4 Multiple Types 12 15
Caca 58 76
Pcc 58 76
Cataract 4 Multiple Types with or Without Microcornea 12
Cataract, Nonnuclear Polymorphic Congenital; Pcc 58
Cataract, Punctate, Progressive Juvenile-Onset 58
Punctate, Progressive Juvenile-Onset, Cataract 76
Cataract, Congenital, Cerulean Type, 3; Cca3 58
Cataract, Nonnuclear Polymorphic Congenital 58
Congenital Non-Nuclear Polymorphic Cataract 76
Cataract, Crystalline Aculeiform; Caca 58
Congenital Cataract Blue Dot Type 3 76
Cataract, Crystalline Aculeiform 58
Crystalline Aculeiform Cataract 76
Aculeiform Cataract 76
Ccp 76

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant


HPO:

33
cataract 4, multiple types:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110234
OMIM 58 115700
MeSH 45 D002386
ICD10 34 Q12.0
SNOMED-CT via HPO 70 263681008 609587005 79410001

Summaries for Cataract 4, Multiple Types

UniProtKB/Swiss-Prot : 76 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 ctrct4, is related to pheochromocytoma and hereditary paraganglioma-pheochromocytoma syndromes. An important gene associated with Cataract 4, Multiple Types is CRYGD (Crystallin Gamma D). Affiliated tissues include eye, 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 : 58 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 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 80)
# Related Disease Score Top Affiliating Genes
1 pheochromocytoma 11.9
2 hereditary paraganglioma-pheochromocytoma syndromes 11.7
3 palindromic rheumatism 11.5
4 cataract congenital dominant non nuclear 11.5
5 propionic acidemia 11.4
6 microcephaly 1, primary, autosomal recessive 11.2
7 arthritis 10.7
8 rheumatoid arthritis 10.7
9 neutrophil actin dysfunction 10.4
10 cataract 10.3
11 iron metabolism disease 10.3
12 paraganglioma 10.2
13 juvenile rheumatoid arthritis 10.2
14 cataract 9, multiple types 10.2
15 glyceraldehyde-3-phosphate dehydrogenase deficiency 10.2
16 psoriatic arthritis 10.1
17 synovitis 10.1
18 muscular dystrophy, becker type 10.1
19 muscular dystrophy 10.1
20 multiple sclerosis 10.1
21 pityriasis rubra pilaris 10.1
22 scleroderma, familial progressive 10.1
23 hepatitis 10.1
24 brucellosis 10.1
25 hepatitis c 10.1
26 lung disease 10.1
27 rheumatic disease 10.0
28 interstitial lung disease 10.0
29 lupus erythematosus 10.0
30 alzheimer disease 9.9
31 hand skill, relative 9.9
32 pelger-huet anomaly 9.9
33 premature chromatid separation trait 9.9
34 digeorge syndrome 9.9
35 premature centromere division 9.9
36 pyogenic sterile arthritis, pyoderma gangrenosum, and acne 9.9
37 paragangliomas 3 9.9
38 acute hemorrhagic leukoencephalitis 9.9
39 colitis 9.9
40 complex regional pain syndrome 9.9
41 hemophilia 9.9
42 pediatric acute-onset neuropsychiatric syndrome 9.9
43 cataract 37 9.9 OR5AC2 OR4Q3
44 autoimmune disease 9.8
45 biliary cirrhosis, primary, 1 9.8
46 osteoporosis 9.8
47 temporal arteritis 9.8
48 down syndrome 9.8
49 lung cancer 9.8
50 diabetes mellitus, insulin-dependent 9.8

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:

33
# Description HPO Frequency HPO Source Accession
1 developmental cataract 33 HP:0000519

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
congenital cataract
crystalline cataract

Clinical features from OMIM:

115700

Drugs & Therapeutics for Cataract 4, Multiple Types

Search Clinical Trials , NIH Clinical Center for Cataract 4, Multiple Types

Genetic Tests for Cataract 4, Multiple Types

Anatomical Context for Cataract 4, Multiple Types

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

42
Eye

Publications for Cataract 4, Multiple Types

Articles related to Cataract 4, Multiple Types:

# Title Authors Year
1
CRYGD gene analysis in a family with autosomal dominant congenital cataract: evidence for molecular homogeneity and intrafamilial clinical heterogeneity in aculeiform cataract. ( 16030500 )
2005
2
High-resolution X-ray crystal structures of human gammaD crystallin (1.25 A) and the R58H mutant (1.15 A) associated with aculeiform cataract. ( 12729747 )
2003

Variations for Cataract 4, Multiple Types

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

76
# 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

ClinVar genetic disease variations for Cataract 4, Multiple Types:

6 (show all 30)
# Gene Variation Type Significance SNP ID Assembly Location
1 CRYGD NM_006891.3(CRYGD): c.43C> T (p.Arg15Cys) single nucleotide variant Pathogenic rs121909595 GRCh37 Chromosome 2, 208989045: 208989045
2 CRYGD NM_006891.3(CRYGD): c.43C> T (p.Arg15Cys) single nucleotide variant Pathogenic rs121909595 GRCh38 Chromosome 2, 208124321: 208124321
3 CRYGD NM_006891.3(CRYGD): c.176G> A (p.Arg59His) single nucleotide variant Pathogenic rs121909596 GRCh37 Chromosome 2, 208988912: 208988912
4 CRYGD NM_006891.3(CRYGD): c.176G> A (p.Arg59His) single nucleotide variant Pathogenic rs121909596 GRCh38 Chromosome 2, 208124188: 208124188
5 CRYGD NM_006891.3(CRYGD): c.109C> A (p.Arg37Ser) single nucleotide variant Pathogenic rs121909597 GRCh37 Chromosome 2, 208988979: 208988979
6 CRYGD NM_006891.3(CRYGD): c.109C> A (p.Arg37Ser) single nucleotide variant Pathogenic rs121909597 GRCh38 Chromosome 2, 208124255: 208124255
7 CRYGD NM_006891.3(CRYGD): c.70C> A (p.Pro24Thr) single nucleotide variant Pathogenic rs28931605 GRCh37 Chromosome 2, 208989018: 208989018
8 CRYGD NM_006891.3(CRYGD): c.70C> A (p.Pro24Thr) single nucleotide variant Pathogenic rs28931605 GRCh38 Chromosome 2, 208124294: 208124294
9 CRYGD NM_006891.3(CRYGD): c.470G> A (p.Trp157Ter) single nucleotide variant Pathogenic rs121909598 GRCh37 Chromosome 2, 208986452: 208986452
10 CRYGD NM_006891.3(CRYGD): c.470G> A (p.Trp157Ter) single nucleotide variant Pathogenic rs121909598 GRCh38 Chromosome 2, 208121728: 208121728
11 CRYGD NM_006891.3(CRYGD): c.70C> T (p.Pro24Ser) single nucleotide variant Pathogenic rs28931605 GRCh37 Chromosome 2, 208989018: 208989018
12 CRYGD NM_006891.3(CRYGD): c.70C> T (p.Pro24Ser) single nucleotide variant Pathogenic rs28931605 GRCh38 Chromosome 2, 208124294: 208124294
13 CRYGD NM_006891.3(CRYGD): c.402C> A (p.Tyr134Ter) single nucleotide variant Pathogenic rs398122948 GRCh37 Chromosome 2, 208986520: 208986520
14 CRYGD NM_006891.3(CRYGD): c.402C> A (p.Tyr134Ter) single nucleotide variant Pathogenic rs398122948 GRCh38 Chromosome 2, 208121796: 208121796
15 CRYGD NM_006891.3(CRYGD): c.130A> G (p.Met44Val) single nucleotide variant Benign/Likely benign rs61731517 GRCh38 Chromosome 2, 208124234: 208124234
16 CRYGD NM_006891.3(CRYGD): c.130A> G (p.Met44Val) single nucleotide variant Benign/Likely benign rs61731517 GRCh37 Chromosome 2, 208988958: 208988958
17 CRYGD NM_006891.3(CRYGD): c.168C> G (p.Tyr56Ter) single nucleotide variant Conflicting interpretations of pathogenicity rs202233735 GRCh38 Chromosome 2, 208124196: 208124196
18 CRYGD NM_006891.3(CRYGD): c.168C> G (p.Tyr56Ter) single nucleotide variant Conflicting interpretations of pathogenicity rs202233735 GRCh37 Chromosome 2, 208988920: 208988920
19 CRYGD NM_006891.3(CRYGD): c.63C> T (p.Ser21=) single nucleotide variant Benign rs150961505 GRCh38 Chromosome 2, 208124301: 208124301
20 CRYGD NM_006891.3(CRYGD): c.63C> T (p.Ser21=) single nucleotide variant Benign rs150961505 GRCh37 Chromosome 2, 208989025: 208989025
21 CRYGD NM_006891.3(CRYGD): c.22_26delGAGGAinsCCTTGCAGATCAC (p.Glu8Profs) indel Uncertain significance rs1553584085 GRCh37 Chromosome 2, 208989062: 208989066
22 CRYGD NM_006891.3(CRYGD): c.22_26delGAGGAinsCCTTGCAGATCAC (p.Glu8Profs) indel Uncertain significance rs1553584085 GRCh38 Chromosome 2, 208124338: 208124342
23 CRYGD NM_006891.3(CRYGD): c.400_410delTACGAGCTGTC (p.Tyr134Glnfs) deletion Uncertain significance rs1553583314 GRCh38 Chromosome 2, 208121788: 208121798
24 CRYGD NM_006891.3(CRYGD): c.400_410delTACGAGCTGTC (p.Tyr134Glnfs) deletion Uncertain significance rs1553583314 GRCh37 Chromosome 2, 208986512: 208986522
25 CRYGD NM_006891.3(CRYGD): c.155C> G (p.Ser52Trp) single nucleotide variant Uncertain significance rs762200707 GRCh37 Chromosome 2, 208988933: 208988933
26 CRYGD NM_006891.3(CRYGD): c.155C> G (p.Ser52Trp) single nucleotide variant Uncertain significance rs762200707 GRCh38 Chromosome 2, 208124209: 208124209
27 CRYGD NM_006891.3(CRYGD): c.418C> T (p.Arg140Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 2, 208121780: 208121780
28 CRYGD NM_006891.3(CRYGD): c.418C> T (p.Arg140Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 2, 208986504: 208986504
29 CRYGD NM_006891.3(CRYGD): c.475delG (p.Ala159Profs) deletion Uncertain significance GRCh38 Chromosome 2, 208121723: 208121723
30 CRYGD NM_006891.3(CRYGD): c.475delG (p.Ala159Profs) deletion Uncertain significance GRCh37 Chromosome 2, 208986447: 208986447

Expression for Cataract 4, Multiple Types

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

Pathways for Cataract 4, Multiple Types

GO Terms for Cataract 4, Multiple Types

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

# Name GO ID Score Top Affiliating Genes
1 response to stimulus GO:0050896 8.8 CRYGD OR4Q3 OR5AC2

Sources for Cataract 4, 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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