MCID: CTR141
MIFTS: 34

Cataract 21, Multiple Types

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

Aliases & Classifications for Cataract 21, Multiple Types

MalaCards integrated aliases for Cataract 21, Multiple Types:

Name: Cataract 21, Multiple Types 53 71 28 69
Ctrct21 53 12 71
Cca4 53 12 71
Cataract, Pulverulent or Cerulean, with or Without Microcornea 71 13
Cataract 21, Multiple Types, with or Without Microcornea 53 71
Cataract, Pulverulent, Juvenile-Onset 53 69
Congenital Cataract Cerulean Type 4 12 71
Cataract 21 Multiple Types 12 14
Cataract 21 Multiple Types with or Without Microcornea 12
Cataract, Congenital, Cerulean Type, 4; Cca4 53
Cataract, Congenital, Cerulean Type, 4 53
Cataract Pulverulent Juvenile-Onset 71
Congenital Cataract Blue Dot Type 4 71

Characteristics:

OMIM:

53
Inheritance:
autosomal dominant


HPO:

31
cataract 21, multiple types:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 53 610202
Disease Ontology 12 DOID:0110256
ICD10 32 Q12.0
MeSH 41 D002386

Summaries for Cataract 21, Multiple Types

UniProtKB/Swiss-Prot : 71 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 cataract 3, multiple types and cataract 4, multiple types, and has symptoms including microcornea, retinal detachment and iris coloboma. An important gene associated with Cataract 21, Multiple Types is MAF (MAF BZIP Transcription Factor), and among its related pathways/superpathways are Signaling by GPCR and Olfactory Signaling Pathway. Affiliated tissues include eye.

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

OMIM : 53 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

Symptoms & Phenotypes for Cataract 21, Multiple Types

Symptoms via clinical synopsis from OMIM:

53
Head And Neck Eyes:
cataract, cortical pulverulent, juvenile-onset
cataract, congenital, cerulean
cataract, congenital, lamellar
cataract, congenital, anterior polar
cataract, congenital, posterior polar
more

Clinical features from OMIM:

610202

Human phenotypes related to Cataract 21, Multiple Types:

31 (show all 6)
# Description HPO Frequency HPO Source Accession
1 microcornea 31 HP:0000482
2 retinal detachment 31 occasional (7.5%) HP:0000541
3 iris coloboma 31 HP:0000612
4 macular hypoplasia 31 occasional (7.5%) HP:0001104
5 cortical pulverulent cataract 31 HP:0007780
6 cerulean cataract 31 HP:0007976

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 28 MAF

Anatomical Context for Cataract 21, Multiple Types

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

38
Eye

Publications for Cataract 21, Multiple Types

Variations for Cataract 21, Multiple Types

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

71
# 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
# 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.890A> G (p.Lys297Arg) single nucleotide variant Pathogenic rs121917736 GRCh37 Chromosome 16, 79632910: 79632910
3 MAF NM_005360.4(MAF): c.895C> A (p.Arg299Ser) single nucleotide variant Pathogenic rs786205221 GRCh38 Chromosome 16, 79599008: 79599008
4 MAF NM_005360.4(MAF): c.908A> C (p.Gln303Pro) single nucleotide variant Pathogenic rs786205222 GRCh38 Chromosome 16, 79598995: 79598995

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
13.25 OR1J2 OR4Q3 OR5AC2 OR6C2 OR6C3
2
Show member pathways
11.95 OR1J2 OR4Q3 OR5AC2 OR6C2 OR6C3
3 11.14 OR5AC2 OR6C2 OR6C3

GO Terms for Cataract 21, Multiple Types

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

# Name GO ID Score Top Affiliating Genes
1 plasma membrane GO:0005886 9.02 OR1J2 OR4Q3 OR5AC2 OR6C2 OR6C3

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
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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