CTRCT16
MCID: CTR115
MIFTS: 35

Cataract 16, Multiple Types (CTRCT16)

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

Aliases & Classifications for Cataract 16, Multiple Types

MalaCards integrated aliases for Cataract 16, Multiple Types:

Name: Cataract 16, Multiple Types 58 76 30 6 74
Ctrct16 58 12 76
Ctpp2 58 12 76
Cataract, Posterior Polar, 2 58 74
Posterior Polar Cataract 2 12 76
Early-Onset Posterior Polar Cataract 60
Cataract, Posterior Polar, 2; Ctpp2 58
Cataract, Congenital Lamellar 58
Congenital Lamellar Cataract 76
Cataract, Posterior Polar 2 13
Cataract 16 Multiple Types 12

Characteristics:

Orphanet epidemiological data:

60
early-onset posterior polar cataract
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal;

OMIM:

58
Inheritance:
autosomal recessive
autosomal dominant

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


HPO:

33
cataract 16, multiple types:
Inheritance autosomal dominant inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110250
OMIM 58 613763
MeSH 45 D002386
ICD10 34 Q12.0
ICD10 via Orphanet 35 Q12.0
UMLS via Orphanet 75 C0858617
Orphanet 60 ORPHA98993

Summaries for Cataract 16, Multiple Types

UniProtKB/Swiss-Prot : 76 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 cataract 5, multiple types. An important gene associated with Cataract 16, Multiple Types is CRYAB (Crystallin Alpha B). Affiliated tissues include eye, and related phenotypes are retinal dystrophy and developmental cataract

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

OMIM : 58 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 48 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 11)
# Related Disease Score Top Affiliating Genes
1 cataract 28.5 CRYAB CRYBA1 EPHA2 GJA3 MIP PITX3
2 cataract 5, multiple types 10.2
3 early-onset posterior subcapsular cataract 10.0 CHMP4B EPHA2
4 myofibrillar myopathy 9.9 CRYAB HSPB2
5 corticobasal degeneration 9.9 CRYAB HSPB2 PITX3
6 cataract 44 9.9 EPHA2 MIP
7 cataract 10, multiple types 9.8 CRYAB CRYBA1
8 cataract 25 9.7 CRYBA1 MIP
9 lens disease 9.7 CRYAB GJA3 PITX3
10 posterior polar cataract 9.2 CRYAB CRYBA1 GJA3 PITX3
11 early-onset nuclear cataract 9.0 CRYAB CRYBA1 EPHA2 GJA3 MIP

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

Human phenotypes related to Cataract 16, Multiple Types:

33
# Description HPO Frequency HPO Source Accession
1 retinal dystrophy 33 occasional (7.5%) HP:0000556
2 developmental cataract 33 occasional (7.5%) HP:0000519
3 posterior polar cataract 33 HP:0001115

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
cataract, congenital (in some patients)
retinal dystrophy (rare)
cataract, nuclear (in some patients)
cataract, posterior polar (in some patients)
cataract, lamellar (in some patients)
more

Clinical features from OMIM:

613763

MGI Mouse Phenotypes related to Cataract 16, Multiple Types:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 vision/eye MP:0005391 9.1 CRYAB CRYBA1 EPHA2 GJA3 MIP PITX3

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 30 CRYAB

Anatomical Context for Cataract 16, Multiple Types

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

42
Eye

Publications for Cataract 16, Multiple Types

Articles related to Cataract 16, Multiple Types:

# Title Authors Year
1
A novel missense mutation in HSF4 causes autosomal-dominant congenital lamellar cataract in a British family. ( 29243736 )
2018
2
An MIP/AQP0 mutation with impaired trafficking and function underlies an autosomal dominant congenital lamellar cataract. ( 23116563 )
2013
3
Identification of a novel CRYAB mutation associated with autosomal recessive juvenile cataract in a Saudi family. ( 19461931 )
2009
4
Identification of a CRYAB mutation associated with autosomal dominant posterior polar cataract in a Chinese family. ( 16877416 )
2006
5
A novel alphaB-crystallin mutation associated with autosomal dominant congenital lamellar cataract. ( 16505043 )
2006
6
Alpha-B crystallin gene (CRYAB) mutation causes dominant congenital posterior polar cataract in humans. ( 11577372 )
2001

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 NM_001885.2(CRYAB): c.450delA (p.Lys150Asnfs) deletion Pathogenic GRCh37 Chromosome 11, 111779566: 111779566
2 CRYAB NM_001885.2(CRYAB): c.450delA (p.Lys150Asnfs) deletion Pathogenic GRCh38 Chromosome 11, 111908842: 111908842
3 CRYAB NM_001885.2(CRYAB): c.418G> A (p.Asp140Asn) single nucleotide variant Pathogenic rs387907336 GRCh37 Chromosome 11, 111779598: 111779598
4 CRYAB NM_001885.2(CRYAB): c.418G> A (p.Asp140Asn) single nucleotide variant Pathogenic rs387907336 GRCh38 Chromosome 11, 111908874: 111908874
5 CRYAB NM_001885.2(CRYAB): c.58C> T (p.Pro20Ser) single nucleotide variant Pathogenic rs387907337 GRCh37 Chromosome 11, 111782391: 111782391
6 CRYAB NM_001885.2(CRYAB): c.58C> T (p.Pro20Ser) single nucleotide variant Pathogenic rs387907337 GRCh38 Chromosome 11, 111911667: 111911667
7 CRYAB NM_001885.2(CRYAB): c.166C> T (p.Arg56Trp) single nucleotide variant Pathogenic rs387907338 GRCh37 Chromosome 11, 111782283: 111782283
8 CRYAB NM_001885.2(CRYAB): c.166C> T (p.Arg56Trp) single nucleotide variant Pathogenic rs387907338 GRCh38 Chromosome 11, 111911559: 111911559
9 CRYAB NM_001885.2(CRYAB): c.115C> G (p.Pro39Ala) single nucleotide variant Uncertain significance GRCh38 Chromosome 11, 111911610: 111911610
10 CRYAB NM_001885.2(CRYAB): c.115C> G (p.Pro39Ala) single nucleotide variant Uncertain significance GRCh37 Chromosome 11, 111782334: 111782334

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 visual perception GO:0007601 9.33 CRYBA1 GJA3 MIP
2 negative regulation of protein kinase B signaling GO:0051898 9.26 CRYBA1 EPHA2
3 negative regulation of cytokine production GO:0001818 8.96 CRYBA1 EPHA2
4 lens development in camera-type eye GO:0002088 8.8 CRYAB CRYBA1 PITX3

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 8.8 CRYAB CRYBA1 MIP

Sources for Cataract 16, Multiple Types

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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