CTRCT21
MCID: CTR141
MIFTS: 36

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 56 73 29 6 71
Ctrct21 56 12 73
Cca4 56 12 73
Cataract, Pulverulent or Cerulean, with or Without Microcornea 73 13
Cataract 21, Multiple Types, with or Without Microcornea 56 73
Cataract, Pulverulent, Juvenile-Onset 56 71
Congenital Cataract Cerulean Type 4 12 73
Cataract 21 Multiple Types 12 15
Cataract 21 Multiple Types with or Without Microcornea 12
Cataract, Congenital, Cerulean Type, 4; Cca4 56
Cataract, Congenital, Cerulean Type, 4 56
Cataract Pulverulent Juvenile-Onset 73
Congenital Cataract Blue Dot Type 4 73
Cataract, Type 21, Multiple Types 39

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant


HPO:

31
cataract 21, multiple types:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110256
OMIM 56 610202
OMIM Phenotypic Series 56 PS116200
MeSH 43 D002386
ICD10 32 Q12.0
UMLS 71 C1857768 C3888097

Summaries for Cataract 21, Multiple Types

UniProtKB/Swiss-Prot : 73 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 microcornea syndrome and ayme-gripp syndrome. 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 : 56 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 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:

(show all 12)
# Related Disease Score Top Affiliating Genes
1 cataract microcornea syndrome 10.2 MAF CRYAA
2 ayme-gripp syndrome 10.2 MAF CRYAA
3 axenfeld-rieger syndrome, type 3 10.1 MAF CRYAA
4 spinal muscular atrophy, type i 10.1 OR6C3 OR6C2
5 retinitis pigmentosa 22 10.0 OR6C3 CRYAA
6 anterior segment dysgenesis 10.0 MAF CRYAA
7 cataract 3, multiple types 10.0 TRNT1 PRB4 OR5AC2
8 aniridia 1 9.9 MAF CRYAA
9 spinal muscular atrophy, type iv 9.6 OR6C3 OR6C2 OR4Q3
10 spinal muscular atrophy, type ii 9.5 OR6C3 OR6C2 OR4Q3 OR1J2
11 spinal muscular atrophy, type iii 9.4 OR6C3 OR6C2 OR4Q3 OR1J2
12 cataract 37 9.1 TRNT1 OR6C3 OR6C2 OR5AC2 OR4Q3 OR1J2

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:

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

Symptoms via clinical synopsis from OMIM:

56
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 29 MAF

Anatomical Context for Cataract 21, Multiple Types

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

40
Eye

Publications for Cataract 21, Multiple Types

Articles related to Cataract 21, Multiple Types:

# Title Authors PMID 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. 56 6
24664492 2014
2
Novel MAF mutation in a family with congenital cataract-microcornea syndrome. 6 56
17982426 2007
3
A novel mutation in the DNA-binding domain of MAF at 16q23.1 associated with autosomal dominant "cerulean cataract" in an Indian family. 56 6
16470690 2006
4
Domain disruption and mutation of the bZIP transcription factor, MAF, associated with cataract, ocular anterior segment dysgenesis and coloboma. 56 6
11772997 2002
5
The transcription factor c-Maf controls touch receptor development and function. 6
22345400 2012
6
Intracellular release of doxorubicin from core-crosslinked polypeptide micelles triggered by both pH and reduction conditions. 61
23570719 2013
7
Isolation and characterization of microsatellite loci in the beaver (Castor canadensis). 61
21585849 2008
8
A major determinant for membrane protein interaction localizes to the carboxy-terminal domain of the mouse coronavirus nucleocapsid protein. 61
16227251 2005

Variations for Cataract 21, Multiple Types

ClinVar genetic disease variations for Cataract 21, Multiple Types:

6 (show all 20) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 MAF NM_005360.5(MAF):c.881G>A (p.Arg294Gln)SNV Pathogenic 664291 16:79632919-79632919 16:79599022-79599022
2 covers 13 genes, none of which curated to show dosage sensitivity NC_000016.10:g.(?_78278583)_(80589366_?)deldeletion Pathogenic 655227 16:78312480-80623263 16:78278583-80589366
3 MAF NC_000016.10:g.(?_79594440)_(79599922_?)deldeletion Pathogenic 830955 16:79628337-79633819
4 MAF NM_005360.5(MAF):c.863G>C (p.Arg288Pro)SNV Pathogenic 13231 rs121917735 16:79632937-79632937 16:79599040-79599040
5 MAF NM_005360.5(MAF):c.890A>G (p.Lys297Arg)SNV Pathogenic 13232 rs121917736 16:79632910-79632910 16:79599013-79599013
6 MAF NM_005360.5(MAF):c.895C>A (p.Arg299Ser)SNV Pathogenic 190235 rs786205221 16:79632905-79632905 16:79599008-79599008
7 MAF NM_005360.5(MAF):c.908A>C (p.Gln303Pro)SNV Pathogenic 190236 rs786205222 16:79632892-79632892 16:79598995-79598995
8 MAF NM_005360.5(MAF):c.905C>T (p.Ala302Val)SNV Likely pathogenic 474940 rs1481963503 16:79632895-79632895 16:79598998-79598998
9 MAF NM_005360.5(MAF):c.768C>G (p.His256Gln)SNV Uncertain significance 474939 rs1555529827 16:79633032-79633032 16:79599135-79599135
10 MAF NM_005360.5(MAF):c.696_710del (p.Gly234_Gly238del)deletion Uncertain significance 474937 rs1229626204 16:79633090-79633104 16:79599193-79599207
11 MAF NM_005360.5(MAF):c.295_312delinsTGCA (p.Gln99fs)indel Uncertain significance 541764 rs1555530022 16:79633488-79633505 16:79599591-79599608
12 MAF NM_005360.5(MAF):c.1110G>C (p.Glu370Asp)SNV Uncertain significance 864654 16:79632690-79632690 16:79598793-79598793
13 MAF NM_005360.5(MAF):c.293C>A (p.Pro98Gln)SNV Uncertain significance 541763 rs878873480 16:79633507-79633507 16:79599610-79599610
14 MAF NM_005360.5(MAF):c.678_680CGG[10] (p.Gly237_Gly238dup)short repeat Likely benign 576664 rs887468453 16:79633098-79633099 16:79599201-79599202
15 MAF NM_005360.5(MAF):c.702A>C (p.Gly234=)SNV Likely benign 259753 rs779108045 16:79633098-79633098 16:79599201-79599201
16 MAF NM_005360.5(MAF):c.942C>T (p.His314=)SNV Likely benign 541765 rs765806184 16:79632858-79632858 16:79598961-79598961
17 MAF NM_005360.5(MAF):c.453C>A (p.Gly151=)SNV Likely benign 707042 16:79633347-79633347 16:79599450-79599450
18 MAF NM_005360.5(MAF):c.-30_-28GGC[4]short repeat Likely benign 803278 16:79633806-79633817 16:79599909-79599920
19 MAF NM_005360.5(MAF):c.715G>A (p.Ala239Thr)SNV Benign 474938 rs561314990 16:79633085-79633085 16:79599188-79599188
20 MAF NM_005360.5(MAF):c.611G>T (p.Gly204Val)SNV Benign 474936 rs867401075 16:79633189-79633189 16:79599292-79599292

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

73
# 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

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
12.3 OR6C3 OR6C2 OR5AC2 OR4Q3 OR1J2
2 10.81 OR6C3 OR6C2 OR5AC2

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 9.8 OR6C3 OR6C2 OR5AC2 OR4Q3 OR1J2 GPR171
2 G protein-coupled receptor signaling pathway GO:0007186 9.73 OR6C3 OR6C2 OR5AC2 OR4Q3 OR1J2 GPR171
3 detection of chemical stimulus involved in sensory perception of smell GO:0050911 9.55 OR6C3 OR6C2 OR5AC2 OR4Q3 OR1J2
4 sensory perception of smell GO:0007608 9.35 OR6C3 OR6C2 OR5AC2 OR4Q3 OR1J2
5 response to stimulus GO:0050896 9.1 OR6C3 OR6C2 OR5AC2 OR4Q3 OR1J2 CRYAA

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 9.43 OR6C3 OR6C2 OR5AC2 OR4Q3 OR1J2 GPR171
2 olfactory receptor activity GO:0004984 9.02 OR6C3 OR6C2 OR5AC2 OR4Q3 OR1J2

Sources for Cataract 21, Multiple Types

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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