CTRCT21
MCID: CTR141
MIFTS: 35

Cataract 21, Multiple Types (CTRCT21)

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

Aliases & Classifications for Cataract 21, Multiple Types

MalaCards integrated aliases for Cataract 21, Multiple Types:

Name: Cataract 21, Multiple Types 58 76 30 6 74
Ctrct21 58 12 76
Cca4 58 12 76
Cataract, Pulverulent or Cerulean, with or Without Microcornea 76 13
Cataract 21, Multiple Types, with or Without Microcornea 58 76
Cataract, Pulverulent, Juvenile-Onset 58 74
Congenital Cataract Cerulean Type 4 12 76
Cataract 21 Multiple Types 12 15
Cataract 21 Multiple Types with or Without Microcornea 12
Cataract, Congenital, Cerulean Type, 4; Cca4 58
Cataract, Congenital, Cerulean Type, 4 58
Cataract, Type 21, Multiple Types ) 41
Cataract Pulverulent Juvenile-Onset 76
Congenital Cataract Blue Dot Type 4 76

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant


HPO:

33
cataract 21, multiple types:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110256
OMIM 58 610202
MeSH 45 D002386
ICD10 34 Q12.0

Summaries for Cataract 21, Multiple Types

UniProtKB/Swiss-Prot : 76 Cataract 21, 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. In general, the more posteriorly located and dense an opacity, the greater the impact on visual function. CTRCT21 includes cerulean and pulverulent cataracts. Cerulean cataracts are 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. Pulverulent cataracts are characterized by a dust- like, 'pulverised' appearance of the opacities which can be found in any part of the lens. In some cases cataract is associated with microcornea without any other systemic anomaly or dysmorphism. Microcornea is defined by a corneal diameter inferior to 10 mm in both meridians in an otherwise normal eye.

MalaCards based summary : Cataract 21, Multiple Types, also known as ctrct21, is related to ayme-gripp syndrome and cataract 4, multiple types. An important gene associated with Cataract 21, Multiple Types is MAF (MAF BZIP Transcription Factor), and among its related pathways/superpathways are Olfactory transduction and GPCRs, Other. Affiliated tissues include eye, and related phenotypes are retinal detachment and macular hypoplasia

Disease Ontology : 12 A cataract that has material basis in heterozygous mutation in the MAF gene on chromosome 16q23.

OMIM : 58 Mutations in the MAF gene have been found to cause multiple types of cataract, which have been described as cortical pulverulent, lamellar, nuclear, nuclear pulverulent, nuclear stellate, anterior polar, anterior subcapsular, posterior subcapsular, and cerulean. In some cases, the cataracts are of juvenile onset. The preferred title of this entry was formerly 'Cataract, Pulverulent, Juvenile-Onset,' with an 'Included' title/symbol of 'Cataract, Congenital, Cerulean Type, 4; CCA4.' (610202)

Related Diseases for Cataract 21, 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 21, Multiple Types via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 ayme-gripp syndrome 10.0 LOC101928230 MAF
2 cataract 4, multiple types 9.8 OR4Q3 OR5AC2
3 cataract 3, multiple types 9.7 OR4Q3 OR5AC2
4 cataract 7 9.1 OR1J2 OR4Q3 OR5AC2 OR6C3
5 cataract 37 8.6 MAF OR1J2 OR4Q3 OR5AC2 OR6C2 OR6C3

Graphical network of the top 20 diseases related to Cataract 21, Multiple Types:



Diseases related to Cataract 21, Multiple Types

Symptoms & Phenotypes for Cataract 21, Multiple Types

Human phenotypes related to Cataract 21, Multiple Types:

33 (show all 6)
# Description HPO Frequency HPO Source Accession
1 retinal detachment 33 occasional (7.5%) HP:0000541
2 macular hypoplasia 33 occasional (7.5%) HP:0001104
3 iris coloboma 33 HP:0000612
4 microcornea 33 HP:0000482
5 cerulean cataract 33 HP:0007976
6 cortical pulverulent cataract 33 HP:0007780

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
microcornea (in some patients)
retinal detachment (rare)
cataract, nuclear
cataract, anterior subcapsular
cataract, cortical pulverulent, juvenile-onset
more

Clinical features from OMIM:

610202

Drugs & Therapeutics for Cataract 21, Multiple Types

Search Clinical Trials , NIH Clinical Center for Cataract 21, Multiple Types

Genetic Tests for Cataract 21, Multiple Types

Genetic tests related to Cataract 21, Multiple Types:

# Genetic test Affiliating Genes
1 Cataract 21, Multiple Types 30 MAF

Anatomical Context for Cataract 21, Multiple Types

MalaCards organs/tissues related to Cataract 21, Multiple Types:

42
Eye

Publications for Cataract 21, Multiple Types

Articles related to Cataract 21, Multiple Types:

# Title Authors Year
1
Identification of a novel missense mutation of MAF in a Japanese family with congenital cataract by whole exome sequencing: a clinical report and review of literature. ( 24664492 )
2014
2
The transcription factor c-Maf controls touch receptor development and function. ( 22345400 )
2012
3
Novel MAF mutation in a family with congenital cataract-microcornea syndrome. ( 17982426 )
2007
4
A novel mutation in the DNA-binding domain of MAF at 16q23.1 associated with autosomal dominant "cerulean cataract" in an Indian family. ( 16470690 )
2006
5
Domain disruption and mutation of the bZIP transcription factor, MAF, associated with cataract, ocular anterior segment dysgenesis and coloboma. ( 11772997 )
2002

Variations for Cataract 21, Multiple Types

UniProtKB/Swiss-Prot genetic disease variations for Cataract 21, Multiple Types:

76
# Symbol AA change Variation ID SNP ID
1 MAF p.Arg288Pro VAR_029369 rs121917735
2 MAF p.Lys297Arg VAR_029370 rs121917736
3 MAF p.Gln303Leu VAR_073898

ClinVar genetic disease variations for Cataract 21, Multiple Types:

6 (show all 26)
# Gene Variation Type Significance SNP ID Assembly Location
1 MAF NM_005360.4(MAF): c.863G> C (p.Arg288Pro) single nucleotide variant Pathogenic rs121917735 GRCh37 Chromosome 16, 79632937: 79632937
2 MAF NM_005360.4(MAF): c.863G> C (p.Arg288Pro) single nucleotide variant Pathogenic rs121917735 GRCh38 Chromosome 16, 79599040: 79599040
3 MAF NM_005360.4(MAF): c.890A> G (p.Lys297Arg) single nucleotide variant Pathogenic rs121917736 GRCh37 Chromosome 16, 79632910: 79632910
4 MAF NM_005360.4(MAF): c.890A> G (p.Lys297Arg) single nucleotide variant Pathogenic rs121917736 GRCh38 Chromosome 16, 79599013: 79599013
5 MAF NM_005360.4(MAF): c.895C> A (p.Arg299Ser) single nucleotide variant Pathogenic rs786205221 GRCh38 Chromosome 16, 79599008: 79599008
6 MAF NM_005360.4(MAF): c.895C> A (p.Arg299Ser) single nucleotide variant Pathogenic rs786205221 GRCh37 Chromosome 16, 79632905: 79632905
7 MAF NM_005360.4(MAF): c.908A> C (p.Gln303Pro) single nucleotide variant Pathogenic rs786205222 GRCh38 Chromosome 16, 79598995: 79598995
8 MAF NM_005360.4(MAF): c.908A> C (p.Gln303Pro) single nucleotide variant Pathogenic rs786205222 GRCh37 Chromosome 16, 79632892: 79632892
9 MAF NM_005360.4(MAF): c.611G> T (p.Gly204Val) single nucleotide variant Benign rs867401075 GRCh37 Chromosome 16, 79633189: 79633189
10 MAF NM_005360.4(MAF): c.611G> T (p.Gly204Val) single nucleotide variant Benign rs867401075 GRCh38 Chromosome 16, 79599292: 79599292
11 MAF NM_005360.4(MAF): c.905C> T (p.Ala302Val) single nucleotide variant Likely pathogenic rs1481963503 GRCh38 Chromosome 16, 79598998: 79598998
12 MAF NM_005360.4(MAF): c.905C> T (p.Ala302Val) single nucleotide variant Likely pathogenic rs1481963503 GRCh37 Chromosome 16, 79632895: 79632895
13 MAF NM_005360.4(MAF): c.768C> G (p.His256Gln) single nucleotide variant Uncertain significance rs1555529827 GRCh38 Chromosome 16, 79599135: 79599135
14 MAF NM_005360.4(MAF): c.768C> G (p.His256Gln) single nucleotide variant Uncertain significance rs1555529827 GRCh37 Chromosome 16, 79633032: 79633032
15 MAF NM_005360.4(MAF): c.715G> A (p.Ala239Thr) single nucleotide variant Uncertain significance rs561314990 GRCh38 Chromosome 16, 79599188: 79599188
16 MAF NM_005360.4(MAF): c.715G> A (p.Ala239Thr) single nucleotide variant Uncertain significance rs561314990 GRCh37 Chromosome 16, 79633085: 79633085
17 MAF NM_005360.4(MAF): c.696_710delCGGCGGAGGCGGCGG (p.Gly234_Gly238del) deletion Uncertain significance rs1229626204 GRCh38 Chromosome 16, 79599193: 79599207
18 MAF NM_005360.4(MAF): c.696_710delCGGCGGAGGCGGCGG (p.Gly234_Gly238del) deletion Uncertain significance rs1229626204 GRCh37 Chromosome 16, 79633090: 79633104
19 MAF NM_005360.4(MAF): c.295_312del18insTGCA (p.Gln99Cysfs) indel Uncertain significance rs1555530022 GRCh38 Chromosome 16, 79599591: 79599608
20 MAF NM_005360.4(MAF): c.295_312del18insTGCA (p.Gln99Cysfs) indel Uncertain significance rs1555530022 GRCh37 Chromosome 16, 79633488: 79633505
21 MAF NM_005360.4(MAF): c.942C> T (p.His314=) single nucleotide variant Likely benign rs765806184 GRCh38 Chromosome 16, 79598961: 79598961
22 MAF NM_005360.4(MAF): c.942C> T (p.His314=) single nucleotide variant Likely benign rs765806184 GRCh37 Chromosome 16, 79632858: 79632858
23 MAF NM_005360.4(MAF): c.293C> A (p.Pro98Gln) single nucleotide variant Uncertain significance rs878873480 GRCh38 Chromosome 16, 79599610: 79599610
24 MAF NM_005360.4(MAF): c.293C> A (p.Pro98Gln) single nucleotide variant Uncertain significance rs878873480 GRCh37 Chromosome 16, 79633507: 79633507
25 MAF NM_005360.4(MAF): c.696_701dup (p.Gly238_Ala239insGlyGly) duplication Uncertain significance GRCh38 Chromosome 16, 79599202: 79599207
26 MAF NM_005360.4(MAF): c.696_701dup (p.Gly238_Ala239insGlyGly) duplication Uncertain significance GRCh37 Chromosome 16, 79633099: 79633104

Expression for Cataract 21, Multiple Types

Search GEO for disease gene expression data for Cataract 21, Multiple Types.

Pathways for Cataract 21, Multiple Types

Pathways related to Cataract 21, Multiple Types according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.97 OR1J2 OR4Q3 OR5AC2 OR6C2 OR6C3
2 11.14 OR5AC2 OR6C2 OR6C3

GO Terms for Cataract 21, Multiple Types

Biological processes related to Cataract 21, Multiple Types according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 signal transduction GO:0007165 9.72 OR1J2 OR4Q3 OR5AC2 OR6C2 OR6C3
2 G protein-coupled receptor signaling pathway GO:0007186 9.65 OR1J2 OR4Q3 OR5AC2 OR6C2 OR6C3
3 response to stimulus GO:0050896 9.55 OR1J2 OR4Q3 OR5AC2 OR6C2 OR6C3
4 detection of chemical stimulus involved in sensory perception of smell GO:0050911 9.35 OR1J2 OR4Q3 OR5AC2 OR6C2 OR6C3
5 sensory perception of smell GO:0007608 9.02 OR1J2 OR4Q3 OR5AC2 OR6C2 OR6C3

Molecular functions related to Cataract 21, Multiple Types according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 G protein-coupled receptor activity GO:0004930 9.35 OR1J2 OR4Q3 OR5AC2 OR6C2 OR6C3
2 olfactory receptor activity GO:0004984 9.02 OR1J2 OR4Q3 OR5AC2 OR6C2 OR6C3

Sources for Cataract 21, 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
Content
Loading form....