MCID: CTR115
MIFTS: 38

Cataract 16, Multiple Types

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

Aliases & Classifications for Cataract 16, Multiple Types

MalaCards integrated aliases for Cataract 16, Multiple Types:

Name: Cataract 16, Multiple Types 53 71 28 69
Ctrct16 53 12 71
Ctpp2 53 12 71
Cataract, Posterior Polar, 2 53 69
Posterior Polar Cataract 2 12 71
Early-Onset Posterior Polar Cataract 55
Cataract, Posterior Polar, 2; Ctpp2 53
Cataract, Congenital Lamellar 53
Early-Onset Lamellar Cataract 55
Congenital Lamellar Cataract 71
Cataract, Posterior Polar 2 13
Cataract 16 Multiple Types 12

Characteristics:

Orphanet epidemiological data:

55
early-onset lamellar cataract
Inheritance: Autosomal dominant;
early-onset posterior polar cataract
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal;

OMIM:

53
Inheritance:
autosomal dominant
autosomal recessive

Miscellaneous:
one consanguineous family with homozygosity for a cryab mutation has been reported (last curated april 2013)


HPO:

31
cataract 16, multiple types:
Inheritance autosomal dominant inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 53 613763
Disease Ontology 12 DOID:0110250
ICD10 32 Q12.0
UMLS via Orphanet 70 C0858617
ICD10 via Orphanet 33 Q12.0
MeSH 41 D002386

Summaries for Cataract 16, Multiple Types

UniProtKB/Swiss-Prot : 71 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 ctrct16, is related to cataract and early-onset posterior subcapsular cataract, 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). 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 : 53 Mutations in the CRYAB gene have been found to cause multiple types of cataract, which have been described as congenital posterior polar, congenital lamellar, and juvenile. Autosomal dominant and autosomal recessive forms have been described. The preferred title/symbol of this entry was formerly 'Cataract, Posterior Polar, 2; CTPP2.' (613763)

Related Diseases for Cataract 16, 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 30 Cataract 33
Cataract Congenital Autosomal Dominant Cataract, Total Congenital

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

(show all 20)
# Related Disease Score Top Affiliating Genes
1 cataract 24.7 BFSP2 CHMP4B CRYAA CRYAB CRYBA1 CRYBA4
2 early-onset posterior subcapsular cataract 10.2 CHMP4B EPHA2
3 anterior segment dysgenesis 1 10.2 CRYGS PITX3
4 cerulean cataract 10.1 CRYGD MIP
5 cataract 5, multiple types 10.1
6 cataract 10, multiple types 10.1 CRYAB CRYBA1
7 corticobasal degeneration 10.0 CRYAB PITX3
8 blood group, globoside system 9.9 CRYAA CRYGS
9 nuclear senile cataract 9.9 CRYAA CRYGD CRYGS
10 cataract 24 9.9 CRYAA CRYGB
11 cataract 30, multiple types 9.7 BFSP2 CRYGC CRYGD GJA3
12 eye accommodation disease 9.6 BFSP2 CRYAA CRYGS MIP
13 presbyopia 9.6 BFSP2 CRYAA CRYGS MIP
14 mature cataract 9.6 CRYAA CRYGB CRYGS MIP
15 cataract 25 9.6 BFSP2 CRYBA1 CRYGS MIP
16 posterior polar cataract 9.5 CRYAB CRYBA1 CRYGD GJA3 PITX3
17 cataract 44 9.4 CRYAA CRYGB EPHA2 HSF4 MIP
18 cataract microcornea syndrome 9.2 CRYAA CRYBA4 CRYGC CRYGD
19 lens disease 8.9 CRYAA CRYAB CRYBA1 CRYGS GJA3 MIP
20 early-onset nuclear cataract 8.7 CRYAA CRYAB CRYBA1 CRYGC CRYGD EPHA2

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 via clinical synopsis from OMIM:

53
Head And Neck Eyes:
cataract, posterior polar (in some patients)
cataract, lamellar (in some patients)
cataract, nuclear (in some patients)
cataract, complete (in some patients)
cataract, congenital (in some patients)
more

Clinical features from OMIM:

613763

Human phenotypes related to Cataract 16, Multiple Types:

31
# Description HPO Frequency HPO Source Accession
1 retinal dystrophy 31 occasional (7.5%) HP:0000556
2 congenital cataract 31 occasional (7.5%) HP:0000519
3 posterior polar cataract 31 HP:0001115

MGI Mouse Phenotypes related to Cataract 16, Multiple Types:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 vision/eye MP:0005391 9.4 BFSP2 CRYAB CRYBA1 CRYGB CRYGC CRYGD

Drugs & Therapeutics for Cataract 16, Multiple Types

Search Clinical Trials , NIH Clinical Center for Cataract 16, Multiple Types

Genetic Tests for Cataract 16, Multiple Types

Genetic tests related to Cataract 16, Multiple Types:

# Genetic test Affiliating Genes
1 Cataract 16, Multiple Types 28 CRYAB

Anatomical Context for Cataract 16, Multiple Types

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

38
Eye

Publications for Cataract 16, Multiple Types

Articles related to Cataract 16, Multiple Types:

# Title Authors Year
1
An MIP/AQP0 mutation with impaired trafficking and function underlies an autosomal dominant congenital lamellar cataract. ( 23116563 )
2013
2
A new mutation in BFSP2 (G1091A) causes autosomal dominant congenital lamellar cataracts. ( 18958306 )
2008
3
A novel alphaB-crystallin mutation associated with autosomal dominant congenital lamellar cataract. ( 16505043 )
2006

Variations for Cataract 16, Multiple Types

ClinVar genetic disease variations for Cataract 16, Multiple Types:

6
# 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:

# 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:

# Name GO ID Score Top Affiliating Genes
1 response to stimulus GO:0050896 9.76 BFSP2 CRYAA CRYGD MIP
2 protein homooligomerization GO:0051260 9.62 CHMP4B CRYAA CRYAB HSF4
3 camera-type eye development GO:0043010 9.54 CRYAB CRYBA4 HSF4
4 lens development in camera-type eye GO:0002088 9.5 CRYAB CRYBA1 CRYGB CRYGD CRYGS MIP
5 negative regulation of protein kinase B signaling GO:0051898 9.48 CRYBA1 EPHA2
6 lens fiber cell differentiation GO:0070306 9.43 CRYGD PITX3
7 lens fiber cell development GO:0070307 9.4 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:

# 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
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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