MCID: CTR103
MIFTS: 31

Cataract 4, Multiple Types

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

Aliases & Classifications for Cataract 4, Multiple Types

MalaCards integrated aliases for Cataract 4, Multiple Types:

Name: Cataract 4, Multiple Types 53 71 13 69
Ctrct4 53 12 71
Cca3 53 12 71
Cataract 4, Multiple Types, with or Without Microcornea 53 71
Cataract, Congenital, Cerulean Type, 3 53 69
Congenital Cataract Cerulean Type 3 12 71
Cataract 4 Multiple Types 12 14
Caca 53 71
Pcc 53 71
Cataract 4 Multiple Types with or Without Microcornea 12
Cataract, Nonnuclear Polymorphic Congenital; Pcc 53
Cataract, Punctate, Progressive Juvenile-Onset 53
Punctate, Progressive Juvenile-Onset, Cataract 71
Cataract, Congenital, Cerulean Type, 3; Cca3 53
Cataract, Nonnuclear Polymorphic Congenital 53
Congenital Non-Nuclear Polymorphic Cataract 71
Cataract, Crystalline Aculeiform; Caca 53
Congenital Cataract Blue Dot Type 3 71
Cataract, Crystalline Aculeiform 53
Crystalline Aculeiform Cataract 71
Aculeiform Cataract 71
Ccp 71

Characteristics:

OMIM:

53
Inheritance:
autosomal dominant


HPO:

31
cataract 4, multiple types:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 53 115700
Disease Ontology 12 DOID:0110234
ICD10 32 Q12.0
MeSH 41 D002386
SNOMED-CT via HPO 65 263681008 609587005 79410001

Summaries for Cataract 4, Multiple Types

UniProtKB/Swiss-Prot : 71 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 palindromic rheumatism, and has symptoms including congenital cataract An important gene associated with Cataract 4, Multiple Types is CRYGD (Crystallin Gamma D). Affiliated tissues include eye.

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

OMIM : 53 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 12)
# Related Disease Score Top Affiliating Genes
1 pheochromocytoma 11.7
2 palindromic rheumatism 11.3
3 cataract congenital dominant non nuclear 11.3
4 cataract 10.2
5 cataract 9, multiple types 10.0
6 carney complex, type 1 9.9
7 muscular dystrophy, becker type 9.9
8 muscular dystrophy 9.9
9 cataract 37 9.8 OR4Q3 OR5AC2
10 cataract 21, multiple types 9.6 OR4Q3 OR5AC2
11 cataract 3, multiple types 9.4 GAS1 OR4Q3 OR5AC2
12 cataract 7 9.4 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:

53
HeadAndNeckEyes:
crystalline cataract
congenital cataract


Clinical features from OMIM:

115700

Human phenotypes related to Cataract 4, Multiple Types:

31
# Description HPO Frequency HPO Source Accession
1 congenital cataract 31 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

Anatomical Context for Cataract 4, Multiple Types

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

38
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
3
Detection of a 4-bp insertion (CACA) functional polymorphism at nucleotide 241 of the cellular adhesion regulatory molecule CMAR (formerly CAR). ( 7993411 )
1994
4
Usefulness of a CACA repeat polymorphism in genotype assignments in Duchenne/Becker muscular dystrophy. ( 1442890 )
1992

Variations for Cataract 4, Multiple Types

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

71
# 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
# 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.176G> A (p.Arg59His) single nucleotide variant Pathogenic rs121909596 GRCh37 Chromosome 2, 208988912: 208988912
3 CRYGD NM_006891.3(CRYGD): c.109C> A (p.Arg37Ser) single nucleotide variant Pathogenic rs121909597 GRCh37 Chromosome 2, 208988979: 208988979
4 CRYGD NM_006891.3(CRYGD): c.70C> A (p.Pro24Thr) single nucleotide variant Pathogenic rs28931605 GRCh37 Chromosome 2, 208989018: 208989018
5 CRYGD NM_006891.3(CRYGD): c.470G> A (p.Trp157Ter) single nucleotide variant Pathogenic rs121909598 GRCh37 Chromosome 2, 208986452: 208986452
6 CRYGD NM_006891.3(CRYGD): c.70C> T (p.Pro24Ser) single nucleotide variant Pathogenic rs28931605 GRCh37 Chromosome 2, 208989018: 208989018
7 CRYGD NM_006891.3(CRYGD): c.402C> A (p.Tyr134Ter) single nucleotide variant Pathogenic rs398122948 GRCh37 Chromosome 2, 208986520: 208986520
8 CRYGD NM_006891.3(CRYGD): c.22_26delGAGGAinsCCTTGCAGATCAC (p.Glu8Profs) indel Pathogenic GRCh38 Chromosome 2, 208124338: 208124342

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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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