CTRCT21
MCID: CTR141
MIFTS: 37

Cataract 21, Multiple Types (CTRCT21) malady

Categories: Genetic diseases, Eye diseases, Rare diseases, Fetal diseases, Neuronal diseases

Aliases & Classifications for Cataract 21, Multiple Types

Aliases & Descriptions for Cataract 21, Multiple Types:

Name: Cataract 21, Multiple Types 54 24 66 69
Ctrct21 12 24 66
Cca4 12 24 66
Cataract, Pulverulent or Cerulean, with or Without Microcornea 66 13
Cataract 21, Multiple Types, with or Without Microcornea 24 66
Cataract, Pulverulent, Juvenile-Onset 24 69
Congenital Cataract Cerulean Type 4 12 66
Cataract Pulverulent Juvenile-Onset 66 29
Cataract 21 Multiple Types 12 14
Cataract 21 Multiple Types with or Without Microcornea 12
Cataract, Congenital, Cerulean Type 4 24
Congenital Cataract Blue Dot Type 4 66

Characteristics:

HPO:

32
cataract 21, multiple types:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 54 610202
Disease Ontology 12 DOID:0110256
ICD10 33 Q12.0
MeSH 42 D002386

Summaries for Cataract 21, Multiple Types

UniProtKB/Swiss-Prot : 66 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 usher syndrome, type 1g and hermansky-pudlak syndrome 4, and has symptoms including retinal detachment, iris coloboma and microcornea. 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. The drugs Phenytoin and Cyclosporine have been mentioned in the context of this disorder. Affiliated tissues include eye.

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

OMIM : 54 Mutations in the MAF gene have been found to cause multiple types of cataract, which have been described as cortical... (610202) more...

Related Diseases for Cataract 21, Multiple Types

Diseases in the Cataract family:

Cataract 8, Multiple Types Cataract 6, Multiple Types
Cataract 34, Multiple Types Cataract 1, Multiple Types
Cataract 39, Multiple Types, Autosomal Dominant Cataract 2, Multiple Types
Cataract 4, Multiple Types Cataract 42
Cataract 18, Autosomal Recessive Cataract 20, Multiple Types
Cataract 41 Cataract 38, Autosomal Recessive
Cataract 26, Multiple Types Cataract 36
Cataract 11, Multiple Types Cataract 16, Multiple Types
Cataract 15, Multiple Types Cataract 14, Multiple Types
Cataract 32, Multiple Types Cataract 25
Cataract 5, Multiple Types Cataract 21, Multiple Types
Cataract 43 Cataract 10, Multiple Types
Cataract 7 Cataract 19
Cataract 33 Cataract 31, Multiple Types
Cataract 9, Multiple Types Cataract 44
Cataract 17, Multiple Types Cataract 3, Multiple Types
Cataract 22, Autosomal Recessive Cataract 23
Cataract 46 Juvenile-Onset Cataract 28
Cataract 37 Cataract 35
Cataract 45 Cataract 19 Multiple Types
Cataract Congenital Autosomal Dominant Cataract, Total Congenital
Cataract 47 Cataract, Autosomal Dominant Congenital 4
Cataracts, Autosomal Recessive Foxe3-Related Cataracts, Autosomal Dominant

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

id Related Disease Score Top Affiliating Genes
1 usher syndrome, type 1g 10.0 OR4Q3 OR5AC2
2 hermansky-pudlak syndrome 4 9.9 OR4Q3 OR5AC2
3 dyskeratosis congenita, autosomal dominant 6 9.1 MAF OR1J2 OR4Q3 OR5AC2 OR6C2 OR6C3
4 cataract 19 multiple types 9.0 MAF OR1J2 OR4Q3 OR5AC2 OR6C2 OR6C3

Symptoms & Phenotypes for Cataract 21, Multiple Types

Symptoms by clinical synopsis from OMIM:

610202

Clinical features from OMIM:

610202

Human phenotypes related to Cataract 21, Multiple Types:

32 (show all 6)
id Description HPO Frequency HPO Source Accession
1 retinal detachment 32 HP:0000541
2 iris coloboma 32 HP:0000612
3 microcornea 32 HP:0000482
4 macular hypoplasia 32 HP:0001104
5 cerulean cataract 32 HP:0007976
6 cortical pulverulent cataract 32 HP:0007780

Drugs & Therapeutics for Cataract 21, Multiple Types

Drugs for Cataract 21, Multiple Types (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 43)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Phenytoin Approved, Vet_approved Phase 1, Phase 2 57-41-0 1775
2
Cyclosporine Approved, Investigational, Vet_approved Phase 1, Phase 2 79217-60-0, 59865-13-3 5284373 6435893
3
Methotrexate Approved Phase 1, Phase 2 1959-05-2, 59-05-2 126941
4
Mycophenolic acid Approved Phase 1, Phase 2 24280-93-1 446541
5
Mycophenolate mofetil Approved, Investigational Phase 1, Phase 2 128794-94-5 5281078
6
Fludarabine Approved Phase 1, Phase 2 21679-14-1, 75607-67-9 30751
7
Vidarabine Approved Phase 1, Phase 2 24356-66-9 32326 21704
8
Busulfan Approved, Investigational Phase 1, Phase 2 55-98-1 2478
9
Miconazole Approved, Investigational, Vet_approved Phase 1, Phase 2 22916-47-8 4189
10
Lenograstim Approved Phase 1, Phase 2 135968-09-1
11
leucovorin Approved, Nutraceutical Phase 1, Phase 2 58-05-9 54575, 6560146 143
12
Folic Acid Approved, Nutraceutical, Vet_approved Phase 1, Phase 2 59-30-3 6037
13 Interleukin-2 Phase 1, Phase 2
14 Alkylating Agents Phase 1, Phase 2
15 Mitogens Phase 1, Phase 2
16 Adjuvants, Immunologic Phase 1, Phase 2
17 Folic Acid Antagonists Phase 1, Phase 2
18 Sodium Channel Blockers Phase 1, Phase 2
19 Nucleic Acid Synthesis Inhibitors Phase 1, Phase 2
20 Dermatologic Agents Phase 1, Phase 2
21 Hormones Phase 1, Phase 2
22 Disinfectants Phase 1, Phase 2
23 Diuretics, Potassium Sparing Phase 1, Phase 2
24 Vitamin B Complex Phase 1, Phase 2
25 Anti-Bacterial Agents Phase 1, Phase 2
26 Immunoglobulins Phase 1, Phase 2
27 Anti-Infective Agents Phase 1, Phase 2
28 Immunosuppressive Agents Phase 1, Phase 2
29 Anticonvulsants Phase 1, Phase 2
30 Antifungal Agents Phase 1, Phase 2
31 Interleukin-4 Phase 1, Phase 2
32 Krestin Phase 1, Phase 2
33 Antimetabolites Phase 1, Phase 2
34 Antibiotics, Antitubercular Phase 1, Phase 2
35 Antimetabolites, Antineoplastic Phase 1, Phase 2
36 Antibodies Phase 1, Phase 2
37 Antirheumatic Agents Phase 1, Phase 2
38 Antineoplastic Agents, Alkylating Phase 1, Phase 2
39 Calcineurin Inhibitors Phase 1, Phase 2
40 Antiviral Agents Phase 1, Phase 2
41 Calcium, Dietary Phase 1, Phase 2
42 Folate Nutraceutical Phase 1, Phase 2
43 Vitamin B9 Nutraceutical Phase 1, Phase 2

Interventional clinical trials:


id Name Status NCT ID Phase
1 Busulfan, Fludarabine, and Total-Body Irradiation in Treating Patients Who Are Undergoing a Donor Stem Cell Transplant for Hematologic Cancer Completed NCT00245037 Phase 1, Phase 2
2 Prevalence of Ocular Disorders in Multiple Myeloma (MM-OO-16) Completed NCT02917239
3 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168

Search NIH Clinical Center for Cataract 21, Multiple Types

Genetic Tests for Cataract 21, Multiple Types

Genetic tests related to Cataract 21, Multiple Types:

id Genetic test Affiliating Genes
1 Cataract, Pulverulent, Juvenile-Onset 29
2 Cataract 21, Multiple Types 24 MAF

Anatomical Context for Cataract 21, Multiple Types

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

39
Eye

Publications for Cataract 21, Multiple Types

Variations for Cataract 21, Multiple Types

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

66
id 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
id 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:

id 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:

id 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:

id 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:

id 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
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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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