CTRCT16
MCID: CTR115
MIFTS: 41

Cataract 16, Multiple Types (CTRCT16) malady

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

Aliases & Classifications for Cataract 16, Multiple Types

Aliases & Descriptions for Cataract 16, Multiple Types:

Name: Cataract 16, Multiple Types 54 66 69
Posterior Polar Cataract 2 12 24 66
Cataract 16 Multiple Types 12 29
Ctrct16 12 66
Ctpp2 12 66
Early-Onset Posterior Polar Cataract 56
Early-Onset Lamellar Cataract 56
Congenital Lamellar Cataract 66
Cataract, Posterior Polar, 2 69
Cataract, Posterior Polar 2 13

Characteristics:

Orphanet epidemiological data:

56
early-onset lamellar cataract
Inheritance: Autosomal dominant;
early-onset posterior polar cataract
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal;

HPO:

32
cataract 16, multiple types:
Inheritance autosomal recessive inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 54 613763
Disease Ontology 12 DOID:0110250
ICD10 33 Q12.0
ICD10 via Orphanet 34 Q12.0
MeSH 42 D002386

Summaries for Cataract 16, Multiple Types

UniProtKB/Swiss-Prot : 66 Cataract 16, 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. CTRCT16 includes posterior polar cataract, among others. Posterior polar cataract is a subcapsular opacity, usually disk-shaped, located at the back of the lens.

MalaCards based summary : Cataract 16, Multiple Types, also known as posterior polar cataract 2, is related to charcot-marie-tooth disease type 2k and neurofibromatosis, familial spinal, and has symptoms including retinal dystrophy, congenital cataract and posterior polar cataract. An important gene associated with Cataract 16, Multiple Types is CRYAB (Crystallin Alpha B). The drugs Phenytoin and Cyclosporine have been mentioned in the context of this disorder. Affiliated tissues include eye, and related phenotype is vision/eye.

Disease Ontology : 12 A cataract that has material basis in heterozygous or homozygous mutation in the CRYAB gene on chromosome 11q.

OMIM : 54 Mutations in the CRYAB gene have been found to cause multiple types of cataract, which have been described as... (613763) more...

Related Diseases for Cataract 16, 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 16, Multiple Types via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 24)
id Related Disease Score Top Affiliating Genes
1 charcot-marie-tooth disease type 2k 10.2 CRYGD MIP
2 neurofibromatosis, familial spinal 10.1 CRYAB CRYBA1
3 charcot-marie-tooth disease type 2t 10.1 CHMP4B EPHA2
4 cataract 10.0
5 palindromic rheumatism 10.0 BFSP2 CRYAA MIP
6 malignant eyelid melanoma 10.0 BFSP2 CRYAA MIP
7 olmsted syndrome 10.0 CRYAA CRYGB
8 conjugate gaze palsy 10.0 CRYAA CRYGS
9 combined sap deficiency 10.0 BFSP2 CRYGC CRYGD GJA3
10 female breast lower-outer quadrant cancer 10.0 CRYAA CRYGD CRYGS
11 osteogenesis imperfecta, type ix 10.0 BFSP2 CRYBA1 CRYGS MIP
12 prostate disease 10.0 CRYAA CRYGS
13 craniofacial and skeletal defects 10.0 CRYAB PITX3
14 aphakia, congenital primary 9.9 CRYGS PITX3
15 endometrial stromal nodule 9.9 CRYAA CRYGB CRYGS MIP
16 caudal appendage deafness 9.8 CRYAA CRYBA4 CRYGC CRYGD
17 meier-gorlin syndrome 1 9.8 CRYGB PITX3
18 popliteal pterygium syndrome 2, lethal type 9.8 CRYAA CRYGB EPHA2 HSF4 MIP
19 leukocyte adhesion deficiency 9.7 CRYAA CRYGD PITX3
20 visceral heterotaxy 9.6 CRYAB CRYBA1 CRYGD GJA3 PITX3
21 pseudopterygium 9.5 CRYAA CRYAB CRYGS GJA3 MIP PITX3
22 tunnel subaortic stenosis 9.3 CRYAA CRYAB CRYBA1 CRYGC CRYGD EPHA2
23 cervical squamous cell carcinoma 8.4 BFSP2 CRYAA CRYAB CRYBA1 CRYBA4 CRYGB
24 cardiomyopathy, dilated, 1ii 8.2 BFSP2 CHMP4B CRYAA CRYAB CRYBA1 CRYBA4

Graphical network of the top 20 diseases related to Cataract 16, Multiple Types:



Diseases related to Cataract 16, Multiple Types

Symptoms & Phenotypes for Cataract 16, Multiple Types

Symptoms by clinical synopsis from OMIM:

613763

Clinical features from OMIM:

613763

Human phenotypes related to Cataract 16, Multiple Types:

32
id Description HPO Frequency HPO Source Accession
1 retinal dystrophy 32 HP:0000556
2 congenital cataract 32 HP:0000519
3 posterior polar cataract 32 HP:0001115

MGI Mouse Phenotypes related to Cataract 16, Multiple Types:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 vision/eye MP:0005391 9.4 CRYGS EPHA2 GJA3 HSF4 MIP PITX3

Drugs & Therapeutics for Cataract 16, Multiple Types

Drugs for Cataract 16, 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 A Randomised Evaluation of Visual Function After Bilateral Implantation of Two Types of Presbyopia-correcting IOLs Recruiting NCT03117426
4 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168

Search NIH Clinical Center for Cataract 16, Multiple Types

Genetic Tests for Cataract 16, Multiple Types

Genetic tests related to Cataract 16, Multiple Types:

id Genetic test Affiliating Genes
1 Cataract 16, Multiple Types 29
2 Posterior Polar Cataract 2 24 CRYAB

Anatomical Context for Cataract 16, Multiple Types

MalaCards organs/tissues related to Cataract 16, Multiple Types:

39
Eye

Publications for Cataract 16, Multiple Types

Variations for Cataract 16, Multiple Types

ClinVar genetic disease variations for Cataract 16, Multiple Types:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 CRYAB CRYAB, 1-BP DEL, 450A deletion Pathogenic
2 CRYAB NM_001885.2(CRYAB): c.418G> A (p.Asp140Asn) single nucleotide variant Pathogenic rs387907336 GRCh37 Chromosome 11, 111779598: 111779598
3 CRYAB NM_001885.2(CRYAB): c.58C> T (p.Pro20Ser) single nucleotide variant Pathogenic rs387907337 GRCh37 Chromosome 11, 111782391: 111782391
4 CRYAB NM_001885.2(CRYAB): c.166C> T (p.Arg56Trp) single nucleotide variant Pathogenic rs387907338 GRCh37 Chromosome 11, 111782283: 111782283

Expression for Cataract 16, Multiple Types

Search GEO for disease gene expression data for Cataract 16, Multiple Types.

Pathways for Cataract 16, Multiple Types

GO Terms for Cataract 16, Multiple Types

Cellular components related to Cataract 16, Multiple Types according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 gap junction GO:0005921 8.62 GJA3 MIP

Biological processes related to Cataract 16, Multiple Types according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 response to stimulus GO:0050896 9.78 BFSP2 CRYAA CRYGD MIP
2 protein homooligomerization GO:0051260 9.62 CHMP4B CRYAA CRYAB HSF4
3 lens development in camera-type eye GO:0002088 9.5 CRYAB CRYBA1 CRYGB CRYGD CRYGS MIP
4 negative regulation of protein kinase B signaling GO:0051898 9.46 CRYBA1 EPHA2
5 lens fiber cell differentiation GO:0070306 9.43 CRYGD PITX3
6 negative regulation of cytokine production GO:0001818 9.4 CRYBA1 EPHA2
7 lens fiber cell development GO:0070307 9.37 BFSP2 CRYGB
8 visual perception GO:0007601 9.32 BFSP2 CRYAA CRYBA1 CRYBA4 CRYGB CRYGC
9 lens fiber cell morphogenesis GO:0070309 9.26 CRYGB EPHA2
10 negative regulation of intracellular transport GO:0032387 9.16 CRYAA CRYAB

Molecular functions related to Cataract 16, Multiple Types according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 structural constituent of eye lens GO:0005212 9.32 BFSP2 CRYAA CRYAB CRYBA1 CRYBA4 CRYGB

Sources for Cataract 16, 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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