CTRCT16
MCID: CTR115
MIFTS: 39

Cataract 16, Multiple Types (CTRCT16)

Categories: Cardiovascular diseases, Eye diseases, Fetal diseases, Genetic diseases, Mental diseases, Metabolic diseases, Nephrological diseases, Neuronal diseases, Oral diseases, Rare diseases, Skin diseases
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Aliases & Classifications for Cataract 16, Multiple Types

MalaCards integrated aliases for Cataract 16, Multiple Types:

Name: Cataract 16, Multiple Types 57 73 71
Cataract 16 Multiple Types 11 28 5 14
Ctrct16 57 11 73
Ctpp2 57 11 73
Cataract, Posterior Polar, 2 57 71
Posterior Polar Cataract 2 11 73
Cataract, Congenital Lamellar 57
Congenital Lamellar Cataract 73

Characteristics:


Inheritance:

Autosomal dominant 57

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
one consanguineous family with homozygosity for a cryab mutation has been reported (last curated april 2013)


Classifications:



External Ids:

Disease Ontology 11 DOID:0110250
OMIM® 57 613763
OMIM Phenotypic Series 57 PS116200
MeSH 43 D002386
ICD10 31 Q12.0
SNOMED-CT via HPO 69 314407005 609587005 79410001
UMLS 71 C3151065 C3808377

Summaries for Cataract 16, Multiple Types

UniProtKB/Swiss-Prot: 73 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 cataract 16 multiple types, is related to cataract and contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a. An important gene associated with Cataract 16, Multiple Types is CRYAB (Crystallin Alpha B), and among its related pathways/superpathways is Budding and maturation of HIV virion. Affiliated tissues include eye, skeletal muscle and heart, and related phenotypes are retinal dystrophy and developmental cataract

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) (Updated 08-Dec-2022)

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

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 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 49 Cataract 30
Cataract 33 Cataract Congenital Autosomal Dominant

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

(show all 31)
# Related Disease Score Top Affiliating Genes
1 cataract 29.6 CRYBA1 CRYAB CRYAA CHMP4B
2 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a 10.2
3 neuronopathy, distal hereditary motor, type iic 10.0 CRYAB CRYAA
4 presbyopia 10.0 CRYAB CRYAA
5 myopathy, myofibrillar, 2 10.0 CRYAB CRYAA
6 cataract 9, multiple types 10.0
7 myopia 10.0
8 distal hereditary motor neuronopathy type 2 10.0 CRYAB CRYAA
9 alexander disease 9.9 CRYAB CRYAA
10 ullrich congenital muscular dystrophy 1 9.9 CRYAA COL12A1
11 amblyopia 9.9 CRYBA1 CRYAA
12 bethlem myopathy 1 9.9 CRYAA COL12A1
13 axenfeld-rieger syndrome, type 3 9.9 CRYBA1 CRYAA
14 myofibrillar myopathy 9.9 CRYAB CRYAA
15 nance-horan syndrome 9.9 CRYBA1 CRYAA
16 persistent hyperplastic primary vitreous 9.9 CRYBA1 CRYAA
17 esotropia 9.9 CRYBA1 CRYAA
18 deprivation amblyopia 9.8 CRYAA CHMP4B
19 aniridia 1 9.8 CRYBA1 CRYAA
20 intraocular pressure quantitative trait locus 9.8 CRYAB CRYAA
21 ayme-gripp syndrome 9.8 CRYAA CHMP4B
22 early-onset lamellar cataract 9.7 CRYBA1 CRYAB CRYAA
23 early-onset nuclear cataract 9.7 CRYBA1 CRYAB CRYAA
24 lens disease 9.7 CRYBA1 CRYAB CRYAA
25 anterior segment dysgenesis 9.6 CRYAA CHMP4B
26 early-onset posterior polar cataract 9.6 CRYBA1 CRYAB CHMP4B
27 fundus dystrophy 9.4 CRYBA1 CRYAB CRYAA
28 posterior polar cataract 9.3 CRYBA1 CRYAB CRYAA CHMP4B
29 cataract 32, multiple types 9.2 CRYBA1 CRYAA CHMP4B CHMP4A
30 cataract 31, multiple types 9.2 CRYBA1 CRYAA CHMP4B CHMP4A
31 cataract 11, multiple types 9.2 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:

30
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 retinal dystrophy 30 Occasional (7.5%) HP:0000556
2 developmental cataract 30 Occasional (7.5%) HP:0000519
3 posterior polar cataract 30 HP:0001115

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
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 (Updated 08-Dec-2022)

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

Organs/tissues related to Cataract 16, Multiple Types:

MalaCards : Eye, Skeletal Muscle, Heart
ODiseA: Eye, Skeletal Muscle, Heart

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. 62 57 5
16505043 2006
2
Identification of a novel CRYAB mutation associated with autosomal recessive juvenile cataract in a Saudi family. 57 5
19461931 2009
3
Identification of a CRYAB mutation associated with autosomal dominant posterior polar cataract in a Chinese family. 57 5
16877416 2006
4
Alpha-B crystallin gene (CRYAB) mutation causes dominant congenital posterior polar cataract in humans. 57 5
11577372 2001
5
Clinical characteristics of congenital lamellar cataract and myopia in a Chinese family. 62
32010934 2020
6
Whole-genome sequencing reveals a recurrent missense mutation in the Connexin 46 (GJA3) gene causing autosomal-dominant lamellar cataract. 62
29934635 2018
7
A novel missense mutation in HSF4 causes autosomal-dominant congenital lamellar cataract in a British family. 62
29243736 2018
8
[Congenital lamellar cataract]. 62
28506473 2017
9
Congenital lamellar cataract. 62
25032728 2014
10
An MIP/AQP0 mutation with impaired trafficking and function underlies an autosomal dominant congenital lamellar cataract. 62
23116563 2013
11
Intraocular lens opacification mimicking the appearance of a congenital lamellar cataract. 62
22935667 2012
12
A new mutation in BFSP2 (G1091A) causes autosomal dominant congenital lamellar cataracts. 62
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. 62
17492639 2007
14
Mutation causing self-aggregation in human gammaC-crystallin leading to congenital cataract. 62
17122105 2006
15
Central compaction in the process of lens growth as indicated by lamellar cataract. 62
3415946 1988
16
[Hereditary congenital lamellar cataract, a case report (author's transl)]. 62
121723 1979

Variations for Cataract 16, Multiple Types

ClinVar genetic disease variations for Cataract 16, Multiple Types:

5 (show all 23)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CRYAB NM_001289808.2(CRYAB):c.450del (p.Lys150fs) DEL Pathogenic
16954 rs1566402656 GRCh37: 11:111779566-111779566
GRCh38: 11:111908842-111908842
2 CRYAB NM_001289808.2(CRYAB):c.418G>A (p.Asp140Asn) SNV Pathogenic
41927 rs387907336 GRCh37: 11:111779598-111779598
GRCh38: 11:111908874-111908874
3 CRYAB NM_001289808.2(CRYAB):c.58C>T (p.Pro20Ser) SNV Pathogenic
41928 rs387907337 GRCh37: 11:111782391-111782391
GRCh38: 11:111911667-111911667
4 CRYAB NM_001289808.2(CRYAB):c.166C>T (p.Arg56Trp) SNV Pathogenic
41929 rs387907338 GRCh37: 11:111782283-111782283
GRCh38: 11:111911559-111911559
5 CRYAB NM_001289808.2(CRYAB):c.525del (p.Lys175fs) DEL Likely Pathogenic
1184448 GRCh37: 11:111779491-111779491
GRCh38: 11:111908767-111908767
6 COL12A1 NM_004370.6(COL12A1):c.5467G>A (p.Val1823Ile) SNV Likely Pathogenic
475877 rs201408175 GRCh37: 6:75844499-75844499
GRCh38: 6:75134783-75134783
7 CRYAB NM_001289808.2(CRYAB):c.148C>T (p.Arg50Trp) SNV Uncertain Significance
1486651 GRCh37: 11:111782301-111782301
GRCh38: 11:111911577-111911577
8 CRYAB NM_001289808.2(CRYAB):c.*60G>A SNV Uncertain Significance
877466 rs540926728 GRCh37: 11:111779428-111779428
GRCh38: 11:111908704-111908704
9 CRYAB NM_001289808.2(CRYAB):c.482T>C (p.Ile161Thr) SNV Uncertain Significance
810752 rs1592506005 GRCh37: 11:111779534-111779534
GRCh38: 11:111908810-111908810
10 CRYAB NM_001289808.2(CRYAB):c.176G>A (p.Ser59Asn) SNV Uncertain Significance
879070 rs1555165546 GRCh37: 11:111782273-111782273
GRCh38: 11:111911549-111911549
11 CRYAB NM_001289808.2(CRYAB):c.375A>C (p.Pro125=) SNV Uncertain Significance
302431 rs886047687 GRCh37: 11:111779641-111779641
GRCh38: 11:111908917-111908917
12 CRYAB NM_001289808.2(CRYAB):c.102G>T (p.Glu34Asp) SNV Uncertain Significance
302432 rs886047688 GRCh37: 11:111782347-111782347
GRCh38: 11:111911623-111911623
13 CRYAB NM_001289808.2(CRYAB):c.*107A>G SNV Uncertain Significance
302428 rs886047686 GRCh37: 11:111779381-111779381
GRCh38: 11:111908657-111908657
14 CRYAB NM_001289808.2(CRYAB):c.115C>G (p.Pro39Ala) SNV Uncertain Significance
571646 rs145768025 GRCh37: 11:111782334-111782334
GRCh38: 11:111911610-111911610
15 CRYAB NM_001289808.2(CRYAB):c.10G>A (p.Ala4Thr) SNV Uncertain Significance
931448 rs1264081192 GRCh37: 11:111782439-111782439
GRCh38: 11:111911715-111911715
16 CRYAB NM_001289808.2(CRYAB):c.-21C>T SNV Likely Benign
302433 rs376222434 GRCh37: 11:111782469-111782469
GRCh38: 11:111911745-111911745
17 CRYAB NM_001289808.2(CRYAB):c.460G>A (p.Gly154Ser) SNV Likely Benign
41926 rs150516929 GRCh37: 11:111779556-111779556
GRCh38: 11:111908832-111908832
18 CRYAB NM_001289808.2(CRYAB):c.60C>T (p.Pro20=) SNV Benign
44239 rs4252582 GRCh37: 11:111782389-111782389
GRCh38: 11:111911665-111911665
19 CRYAB NM_001289808.2(CRYAB):c.165G>A (p.Leu55=) SNV Benign
44233 rs2228387 GRCh37: 11:111782284-111782284
GRCh38: 11:111911560-111911560
20 CRYAB NM_001289808.2(CRYAB):c.152C>T (p.Pro51Leu) SNV Benign
44232 rs2234704 GRCh37: 11:111782297-111782297
GRCh38: 11:111911573-111911573
21 CRYAB NM_001289808.2(CRYAB):c.324+4T>G SNV Benign
44234 rs11603779 GRCh37: 11:111781047-111781047
GRCh38: 11:111910323-111910323
22 CRYAB NM_001289808.2(CRYAB):c.116C>T (p.Pro39Leu) SNV Benign
178013 rs149787233 GRCh37: 11:111782333-111782333
GRCh38: 11:111911609-111911609
23 CRYAB NM_001289808.2(CRYAB):c.*38G>C SNV Benign
302430 rs781853968 GRCh37: 11:111779450-111779450
GRCh38: 11:111908726-111908726

Expression for Cataract 16, Multiple Types

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

Pathways for Cataract 16, Multiple Types

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
10.79 CHMP4B CHMP4A

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 cytoplasmic side of plasma membrane GO:0009898 9.73 CHMP4B CHMP4A
2 autophagosome membrane GO:0000421 9.71 CHMP4B CHMP4A
3 multivesicular body GO:0005771 9.67 CHMP4B CHMP4A
4 multivesicular body membrane GO:0032585 9.62 CHMP4B CHMP4A
5 kinetochore microtubule GO:0005828 9.56 CHMP4B CHMP4A
6 membrane coat GO:0030117 9.46 CHMP4B CHMP4A
7 amphisome membrane GO:1904930 9.26 CHMP4B CHMP4A
8 ESCRT III complex GO:0000815 8.92 CHMP4B CHMP4A

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

(show all 29)
# Name GO ID Score Top Affiliating Genes
1 macroautophagy GO:0016236 9.94 CHMP4B CHMP4A
2 negative regulation of neuron death GO:1901215 9.94 CHMP4B CHMP4A
3 response to heat GO:0009408 9.93 CRYAB CRYAA
4 autophagosome maturation GO:0097352 9.92 CHMP4B CHMP4A
5 mitotic metaphase plate congression GO:0007080 9.92 CHMP4B CHMP4A
6 membrane fission GO:0090148 9.91 CHMP4B CHMP4A
7 ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway GO:0043162 9.91 CHMP4A CHMP4B
8 multivesicular body assembly GO:0036258 9.9 CHMP4B CHMP4A
9 plasma membrane repair GO:0001778 9.89 CHMP4B CHMP4A
10 nucleus organization GO:0006997 9.88 CHMP4B CHMP4A
11 regulation of mitotic spindle assembly GO:1901673 9.88 CHMP4B CHMP4A
12 protein refolding GO:0042026 9.87 CRYAB CRYAA
13 multivesicular body sorting pathway GO:0071985 9.86 CHMP4B CHMP4A
14 viral budding via host ESCRT complex GO:0039702 9.85 CHMP4A CHMP4B
15 late endosome to lysosome transport GO:1902774 9.84 CHMP4B CHMP4A
16 midbody abscission GO:0061952 9.83 CHMP4B CHMP4A
17 nuclear membrane reassembly GO:0031468 9.81 CHMP4B CHMP4A
18 negative regulation of autophagosome assembly GO:1902902 9.8 CHMP4B CHMP4A
19 protein polymerization GO:0051258 9.78 CHMP4B CHMP4A
20 vesicle budding from membrane GO:0006900 9.76 CHMP4B CHMP4A
21 viral budding from plasma membrane GO:0046761 9.73 CHMP4A CHMP4B
22 late endosome to vacuole transport via multivesicular body sorting pathway GO:0032511 9.71 CHMP4B CHMP4A
23 endosome to lysosome transport GO:0008333 9.63 CHMP4B CHMP4A
24 multivesicular body-lysosome fusion GO:0061763 9.62 CHMP4B CHMP4A
25 vesicle fusion with vacuole GO:0051469 9.56 CHMP4B CHMP4A
26 post-translational protein targeting to endoplasmic reticulum membrane GO:0006620 9.46 CHMP4B CHMP4A
27 vacuolar transport GO:0007034 9.37 CHMP4B CHMP4A
28 negative regulation of intracellular transport GO:0032387 9.26 CRYAB CRYAA
29 lens development in camera-type eye GO:0002088 9.1 CRYBA1 CRYAB CRYAA

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 9.1 CRYBA1 CRYAB CRYAA

Sources for Cataract 16, Multiple Types

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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