CTRCT4
MCID: CTR103
MIFTS: 31

Cataract 4, Multiple Types (CTRCT4)

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

Aliases & Classifications for Cataract 4, Multiple Types

MalaCards integrated aliases for Cataract 4, Multiple Types:

Name: Cataract 4, Multiple Types 57 75 13 73
Aculeiform Cataract 75 29 6
Ctrct4 57 12 75
Cca3 57 12 75
Cataract 4, Multiple Types, with or Without Microcornea 57 75
Cataract, Congenital, Cerulean Type, 3 57 73
Congenital Cataract Cerulean Type 3 12 75
Cataract 4 Multiple Types 12 15
Caca 57 75
Pcc 57 75
Cataract 4 Multiple Types with or Without Microcornea 12
Cataract, Nonnuclear Polymorphic Congenital; Pcc 57
Cataract, Punctate, Progressive Juvenile-Onset 57
Punctate, Progressive Juvenile-Onset, Cataract 75
Cataract, Congenital, Cerulean Type, 3; Cca3 57
Cataract, Nonnuclear Polymorphic Congenital 57
Congenital Non-Nuclear Polymorphic Cataract 75
Cataract, Crystalline Aculeiform; Caca 57
Congenital Cataract Blue Dot Type 3 75
Cataract, Crystalline Aculeiform 57
Crystalline Aculeiform Cataract 75
Ccp 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
cataract 4, multiple types:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 115700
Disease Ontology 12 DOID:0110234
ICD10 33 Q12.0
MeSH 44 D002386
SNOMED-CT via HPO 69 263681008 609587005 79410001

Summaries for Cataract 4, Multiple Types

UniProtKB/Swiss-Prot : 75 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 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 congenital cataract.

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

OMIM : 57 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 all 15)
# Related Disease Score Top Affiliating Genes
1 pheochromocytoma 11.7
2 hereditary paraganglioma-pheochromocytoma syndromes 11.5
3 palindromic rheumatism 11.3
4 cataract congenital dominant non nuclear 11.3
5 propionic acidemia 11.2
6 microcephaly 1, primary, autosomal recessive 11.0
7 phaeochromocytoma 10.9
8 cataract 10.2
9 cataract 9, multiple types 10.0
10 muscular dystrophy, becker type 9.9
11 muscular dystrophy 9.9
12 cataract 37 9.7 OR4Q3 OR5AC2
13 cataract 21, multiple types 9.4 OR4Q3 OR5AC2
14 cataract 3, multiple types 9.1 GAS1 OR4Q3 OR5AC2
15 cataract 7 9.0 GAS1 OR4Q3 OR5AC2

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

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
crystalline cataract
congenital cataract


Clinical features from OMIM:

115700

Human phenotypes related to Cataract 4, Multiple Types:

32
# Description HPO Frequency HPO Source Accession
1 congenital cataract 32 HP:0000519

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

Genetic tests related to Cataract 4, Multiple Types:

# Genetic test Affiliating Genes
1 Aculeiform Cataract 29 CRYGD

Anatomical Context for Cataract 4, Multiple Types

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

41
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:

75
# 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 26)
# 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 GRCh37 Chromosome 2, 208988958: 208988958
16 CRYGD NM_006891.3(CRYGD): c.130A> G (p.Met44Val) single nucleotide variant Benign/Likely benign rs61731517 GRCh38 Chromosome 2, 208124234: 208124234
17 CRYGD NM_006891.3(CRYGD): c.168C> G (p.Tyr56Ter) single nucleotide variant Conflicting interpretations of pathogenicity rs202233735 GRCh37 Chromosome 2, 208988920: 208988920
18 CRYGD NM_006891.3(CRYGD): c.168C> G (p.Tyr56Ter) single nucleotide variant Conflicting interpretations of pathogenicity rs202233735 GRCh38 Chromosome 2, 208124196: 208124196
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 GRCh38 Chromosome 2, 208124338: 208124342
22 CRYGD NM_006891.3(CRYGD): c.22_26delGAGGAinsCCTTGCAGATCAC (p.Glu8Profs) indel Uncertain significance GRCh37 Chromosome 2, 208989062: 208989066
23 CRYGD NM_006891.3(CRYGD): c.400_410delTACGAGCTGTC (p.Tyr134Glnfs) deletion Uncertain significance GRCh38 Chromosome 2, 208121788: 208121798
24 CRYGD NM_006891.3(CRYGD): c.400_410delTACGAGCTGTC (p.Tyr134Glnfs) deletion Uncertain significance GRCh37 Chromosome 2, 208986512: 208986522
25 CRYGD NM_006891.3(CRYGD): c.155C> G (p.Ser52Trp) single nucleotide variant Uncertain significance rs762200707 GRCh38 Chromosome 2, 208124209: 208124209
26 CRYGD NM_006891.3(CRYGD): c.155C> G (p.Ser52Trp) single nucleotide variant Uncertain significance rs762200707 GRCh37 Chromosome 2, 208988933: 208988933

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 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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