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 57 74 29 6 72
Ctrct16 57 12 74
Ctpp2 57 12 74
Cataract, Posterior Polar, 2 57 72
Posterior Polar Cataract 2 12 74
Early-Onset Posterior Polar Cataract 59
Cataract, Posterior Polar, 2; Ctpp2 57
Cataract, Congenital Lamellar 57
Congenital Lamellar Cataract 74
Cataract, Posterior Polar 2 13
Cataract 16 Multiple Types 12

Characteristics:

Orphanet epidemiological data:

59
early-onset posterior polar cataract
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal recessive
autosomal dominant

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


HPO:

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


Classifications:



External Ids:

Disease Ontology 12 DOID:0110250
MeSH 44 D002386
ICD10 33 Q12.0
ICD10 via Orphanet 34 Q12.0
UMLS via Orphanet 73 C0858617
Orphanet 59 ORPHA98993
UMLS 72 C3151065 C3808377

Summaries for Cataract 16, Multiple Types

UniProtKB/Swiss-Prot : 74 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 : 57 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 15)
# Related Disease Score Top Affiliating Genes
1 cataract 27.0 PITX3 MIP GJA3 EPHA2 CRYBA1 CRYAB
2 cataract 5, multiple types 10.1
3 cataract 10, multiple types 10.0 CRYBA1 CRYAB
4 yemenite deaf-blind hypopigmentation syndrome 10.0
5 early-onset zonular cataract 10.0
6 early-onset non-syndromic cataract 10.0
7 early-onset partial cataract 10.0
8 early-onset posterior subcapsular cataract 10.0 EPHA2 CHMP4B
9 myofibrillar myopathy 9.8 HSPB2 CRYAB
10 corticobasal degeneration 9.8 PITX3 HSPB2 CRYAB
11 cataract 25 9.6 MIP CRYBA1
12 lens disease 9.5 PITX3 GJA3 CRYAB
13 cataract 44 9.4 MIP EPHA2
14 posterior polar cataract 9.1 PITX3 GJA3 CRYBA1 CRYAB
15 early-onset nuclear cataract 8.4 MIP GJA3 EPHA2 CRYBA1 CRYAB

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:

32
# Description HPO Frequency HPO Source Accession
1 retinal dystrophy 32 occasional (7.5%) HP:0000556
2 developmental cataract 32 occasional (7.5%) HP:0000519
3 posterior polar cataract 32 HP:0001115

Symptoms via clinical synopsis from OMIM:

57
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:

46
# 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 29 CRYAB

Anatomical Context for Cataract 16, Multiple Types

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

41
Eye

Publications for Cataract 16, Multiple Types

Articles related to Cataract 16, Multiple Types:

(show all 15)
# Title Authors PMID Year
1
A novel alphaB-crystallin mutation associated with autosomal dominant congenital lamellar cataract. 38 8 71
16505043 2006
2
Identification of a novel CRYAB mutation associated with autosomal recessive juvenile cataract in a Saudi family. 8 71
19461931 2009
3
Identification of a CRYAB mutation associated with autosomal dominant posterior polar cataract in a Chinese family. 8 71
16877416 2006
4
Alpha-B crystallin gene (CRYAB) mutation causes dominant congenital posterior polar cataract in humans. 8 71
11577372 2001
5
Whole-genome sequencing reveals a recurrent missense mutation in the Connexin 46 (GJA3) gene causing autosomal-dominant lamellar cataract. 38
29934635 2018
6
A novel missense mutation in HSF4 causes autosomal-dominant congenital lamellar cataract in a British family. 38
29243736 2018
7
[Congenital lamellar cataract]. 38
28506473 2017
8
Congenital lamellar cataract. 38
25032728 2014
9
An MIP/AQP0 mutation with impaired trafficking and function underlies an autosomal dominant congenital lamellar cataract. 38
23116563 2013
10
Intraocular lens opacification mimicking the appearance of a congenital lamellar cataract. 38
22935667 2012
11
A new mutation in BFSP2 (G1091A) causes autosomal dominant congenital lamellar cataracts. 38
18958306 2008
12
Characterization of a familial t(16;22) balanced translocation associated with congenital cataract leads to identification of a novel gene, TMEM114, expressed in the lens and disrupted by the translocation. 38
17492639 2007
13
Mutation causing self-aggregation in human gammaC-crystallin leading to congenital cataract. 38
17122105 2006
14
Central compaction in the process of lens growth as indicated by lamellar cataract. 38
3415946 1988
15
[Hereditary congenital lamellar cataract, a case report (author's transl)]. 38
121723 1979

Variations for Cataract 16, Multiple Types

ClinVar genetic disease variations for Cataract 16, Multiple Types:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 CRYAB NM_001885.3(CRYAB): c.450del (p.Lys150fs) deletion Pathogenic 11:111779566-111779566 11:111908842-111908842
2 CRYAB NM_001885.3(CRYAB): c.166C> T (p.Arg56Trp) single nucleotide variant Pathogenic rs387907338 11:111782283-111782283 11:111911559-111911559
3 CRYAB NM_001885.3(CRYAB): c.58C> T (p.Pro20Ser) single nucleotide variant Pathogenic rs387907337 11:111782391-111782391 11:111911667-111911667
4 CRYAB NM_001885.3(CRYAB): c.418G> A (p.Asp140Asn) single nucleotide variant Pathogenic rs387907336 11:111779598-111779598 11:111908874-111908874
5 CRYAB NM_001885.3(CRYAB): c.115C> G (p.Pro39Ala) single nucleotide variant Uncertain significance 11:111782334-111782334 11:111911610-111911610

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 MIP GJA3

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 MIP GJA3 CRYBA1
2 negative regulation of protein kinase B signaling GO:0051898 9.26 EPHA2 CRYBA1
3 negative regulation of cytokine production GO:0001818 8.96 EPHA2 CRYBA1
4 lens development in camera-type eye GO:0002088 8.92 PITX3 MIP CRYBA1 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 8.8 MIP CRYBA1 CRYAB

Sources for Cataract 16, Multiple Types

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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