CTRCT16
MCID: CTR115
MIFTS: 36

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 56 73 29 6 71
Ctrct16 56 12 73
Ctpp2 56 12 73
Cataract, Posterior Polar, 2 56 71
Cataract 16 Multiple Types 12 15
Posterior Polar Cataract 2 12 73
Cataract, Posterior Polar, 2; Ctpp2 56
Cataract, Congenital Lamellar 56
Congenital Lamellar Cataract 73
Cataract, Posterior Polar 2 13

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive
autosomal dominant

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:

Disease Ontology 12 DOID:0110250
OMIM 56 613763
OMIM Phenotypic Series 56 PS116200
MeSH 43 D002386
ICD10 32 Q12.0
UMLS 71 C3151065 C3808377

Summaries for Cataract 16, Multiple Types

UniProtKB/Swiss-Prot : 73 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 early-onset posterior polar cataract and cataract. An important gene associated with Cataract 16, Multiple Types is CRYAB (Crystallin Alpha B), and among its related pathways/superpathways are Protein processing in endoplasmic reticulum and Autophagy Pathway. Affiliated tissues include eye, and related phenotypes are developmental cataract and retinal dystrophy

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

OMIM : 56 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 25)
# Related Disease Score Top Affiliating Genes
1 early-onset posterior polar cataract 29.3 CRYBA1 CRYAB CHMP4B
2 cataract 28.2 TMEM114 CRYBA1 CRYAB CRYAA CHMP4B
3 cataract 5, multiple types 10.0
4 yemenite deaf-blind hypopigmentation syndrome 10.0
5 myopia 10.0
6 early-onset zonular cataract 10.0
7 early-onset non-syndromic cataract 10.0
8 early-onset partial cataract 10.0
9 alexander disease 9.9 CRYAB CRYAA
10 leukocoria 9.9 CRYBA1 CRYAA
11 galactokinase deficiency 9.9 TMEM114 CRYAA
12 amblyopia 9.9 CRYAA CHMP4B
13 nance-horan syndrome 9.8 CRYBA1 CRYAA
14 myofibrillar myopathy 9.8 CRYAB CRYAA
15 aniridia 1 9.7 CRYBA1 CRYAA
16 early-onset lamellar cataract 9.6 CRYBA1 CRYAB CRYAA
17 intraocular pressure quantitative trait locus 9.6 CRYAB CRYAA
18 early-onset nuclear cataract 9.6 CRYBA1 CRYAB CRYAA
19 lens disease 9.6 CRYBA1 CRYAB CRYAA
20 disuse amblyopia 9.2 CRYAA CHMP4B CHMP4A
21 posterior polar cataract 9.2 CRYBA1 CRYAB CRYAA CHMP4B
22 cataract 31, multiple types 8.9 CRYBA1 CRYAA CHMP4B CHMP4A
23 cataract 32, multiple types 8.5 TMEM114 CRYBA1 CRYAA CHMP4B CHMP4A
24 cataract 11, multiple types 8.5 TMEM114 CRYBA1 CRYAA CHMP4B CHMP4A
25 cataract 6, multiple types 8.5 TMEM114 CRYBA1 CRYAA CHMP4B CHMP4A

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:

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

Symptoms via clinical synopsis from OMIM:

56
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

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:

40
Eye

Publications for Cataract 16, Multiple Types

Articles related to Cataract 16, Multiple Types:

(show all 16)
# Title Authors PMID Year
1
A novel alphaB-crystallin mutation associated with autosomal dominant congenital lamellar cataract. 61 56 6
16505043 2006
2
Identification of a novel CRYAB mutation associated with autosomal recessive juvenile cataract in a Saudi family. 56 6
19461931 2009
3
Identification of a CRYAB mutation associated with autosomal dominant posterior polar cataract in a Chinese family. 56 6
16877416 2006
4
Alpha-B crystallin gene (CRYAB) mutation causes dominant congenital posterior polar cataract in humans. 56 6
11577372 2001
5
Clinical characteristics and genome wide linkage study of congenital lamellar cataract and myopia in a Chinese family. 61
32010934 2020
6
Whole-genome sequencing reveals a recurrent missense mutation in the Connexin 46 (GJA3) gene causing autosomal-dominant lamellar cataract. 61
29934635 2018
7
A novel missense mutation in HSF4 causes autosomal-dominant congenital lamellar cataract in a British family. 61
29243736 2018
8
[Congenital lamellar cataract]. 61
28506473 2017
9
Congenital lamellar cataract. 61
25032728 2014
10
An MIP/AQP0 mutation with impaired trafficking and function underlies an autosomal dominant congenital lamellar cataract. 61
23116563 2013
11
Intraocular lens opacification mimicking the appearance of a congenital lamellar cataract. 61
22935667 2012
12
A new mutation in BFSP2 (G1091A) causes autosomal dominant congenital lamellar cataracts. 61
18958306 2008
13
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. 61
17492639 2007
14
Mutation causing self-aggregation in human gammaC-crystallin leading to congenital cataract. 61
17122105 2006
15
Central compaction in the process of lens growth as indicated by lamellar cataract. 61
3415946 1988
16
[Hereditary congenital lamellar cataract, a case report (author's transl)]. 61
121723 1979

Variations for Cataract 16, Multiple Types

ClinVar genetic disease variations for Cataract 16, Multiple Types:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CRYAB NM_001289808.2(CRYAB):c.450del (p.Lys150fs)deletion Pathogenic 16954 rs1566402656 11:111779566-111779566 11:111908842-111908842
2 CRYAB NM_001289808.2(CRYAB):c.166C>T (p.Arg56Trp)SNV Pathogenic 41929 rs387907338 11:111782283-111782283 11:111911559-111911559
3 CRYAB NM_001289808.2(CRYAB):c.418G>A (p.Asp140Asn)SNV Pathogenic 41927 rs387907336 11:111779598-111779598 11:111908874-111908874
4 CRYAB NM_001289808.2(CRYAB):c.58C>T (p.Pro20Ser)SNV Pathogenic 41928 rs387907337 11:111782391-111782391 11:111911667-111911667
5 CRYAB NM_001289808.2(CRYAB):c.115C>G (p.Pro39Ala)SNV Uncertain significance 571646 rs145768025 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 midbody GO:0030496 9.32 CHMP4B CHMP4A
2 late endosome membrane GO:0031902 9.26 CHMP4B CHMP4A
3 cytoplasmic side of plasma membrane GO:0009898 9.16 CHMP4B CHMP4A
4 membrane coat GO:0030117 8.96 CHMP4B CHMP4A
5 ESCRT III complex GO:0000815 8.62 CHMP4B CHMP4A

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

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 macroautophagy GO:0016236 9.55 CHMP4B CHMP4A
2 endosomal transport GO:0016197 9.54 CHMP4B CHMP4A
3 negative regulation of neuron death GO:1901215 9.52 CHMP4B CHMP4A
4 lens development in camera-type eye GO:0002088 9.51 CRYBA1 CRYAB
5 mitotic metaphase plate congression GO:0007080 9.49 CHMP4B CHMP4A
6 multivesicular body assembly GO:0036258 9.48 CHMP4B CHMP4A
7 viral life cycle GO:0019058 9.46 CHMP4B CHMP4A
8 nucleus organization GO:0006997 9.43 CHMP4B CHMP4A
9 viral budding via host ESCRT complex GO:0039702 9.4 CHMP4B CHMP4A
10 midbody abscission GO:0061952 9.37 CHMP4B CHMP4A
11 vacuolar transport GO:0007034 9.32 CHMP4B CHMP4A
12 negative regulation of autophagosome assembly GO:1902902 9.26 CHMP4B CHMP4A
13 posttranslational protein targeting to endoplasmic reticulum membrane GO:0006620 9.16 CHMP4B CHMP4A
14 negative regulation of intracellular transport GO:0032387 8.96 CRYAB CRYAA
15 protein homooligomerization GO:0051260 8.92 CRYAB CRYAA CHMP4B CHMP4A

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

# Name GO ID Score Top Affiliating Genes
1 identical protein binding GO:0042802 9.26 CRYAB CRYAA CHMP4B CHMP4A
2 unfolded protein binding GO:0051082 9.16 CRYAB CRYAA
3 structural constituent of eye lens GO:0005212 8.8 CRYBA1 CRYAB CRYAA

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 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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