CTRCT9
MCID: CTR130
MIFTS: 38

Cataract 9, Multiple Types (CTRCT9)

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

Aliases & Classifications for Cataract 9, Multiple Types

MalaCards integrated aliases for Cataract 9, Multiple Types:

Name: Cataract 9, Multiple Types 56 73 13
Cataract, Autosomal Dominant 56 29 54 6 71
Cataract, Autosomal Recessive Congenital 1 56 29 71
Ctrct9 56 12 73
Catc1 56 12 73
Cataract 9, Multiple Types, with or Without Microcornea 56 73
Autosomal Recessive Congenital Cataract 1 12 73
Cataract 9 Multiple Types 12 15
Cataract 9 Multiple Types with or Without Microcornea 12
Cataract, Autosomal Recessive Congenital 1; Catc1 56
Autosomal Dominant Congenital Cataract 73
Cataracts, Autosomal Dominant 29
Cataract Autosomal Dominant 73

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive
autosomal dominant


HPO:

31
cataract 9, multiple types:
Inheritance autosomal dominant inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110266
OMIM 56 604219
OMIM Phenotypic Series 56 PS116200
MeSH 43 D002386
ICD10 32 Q12.0
MedGen 41 C1858679
UMLS 71 C1858679 C3888098

Summaries for Cataract 9, Multiple Types

UniProtKB/Swiss-Prot : 73 Cataract 9, 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. CTRCT9 includes nuclear, zonular central nuclear, anterior polar, cortical, embryonal, anterior subcapsular, fan-shaped, and total cataracts, among others. In some cases cataract is associated with microcornea without any other systemic anomaly or dysmorphism. Microcornea is defined by a corneal diameter inferior to 10 mm in both meridians in an otherwise normal eye.

MalaCards based summary : Cataract 9, Multiple Types, also known as cataract, autosomal dominant, is related to posterior polar cataract and cataract 1, multiple types. An important gene associated with Cataract 9, Multiple Types is CRYAA (Crystallin Alpha A). Affiliated tissues include eye, and related phenotypes are microphthalmia and iris coloboma

Disease Ontology : 12 A cataract that has material basis in autosomal recessive or autosomal dominant inheritance of heterozygous or homozygous mutation in the CRYAA gene, which encodes alpha-A-crystallin, on chromosome 21q22.

OMIM : 56 Mutations in the CRYAA gene have been found to cause multiple types of cataract, which have been described as nuclear, zonular central nuclear, laminar, lamellar, anterior polar, posterior polar, cortical, embryonal, anterior subcapsular, fan-shaped, and total. Cataract associated with microcornea, sometimes called the cataract-microcornea syndrome, is also caused by mutation in the CRYAA gene. Both autosomal dominant and autosomal recessive modes of inheritance have been reported. The symbol CATC1 was formerly used for the autosomal recessive form of cataract caused by mutation in the CRYAA gene. (604219)

Related Diseases for Cataract 9, 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 9, Multiple Types via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 55)
# Related Disease Score Top Affiliating Genes
1 posterior polar cataract 29.6 CRYBB2 CRYAA
2 cataract 1, multiple types 29.6 GJA8 CRYAA
3 amblyopia 29.1 CRYBB2 CRYBB1 CRYAA
4 cataract 28.7 GJA8 CRYBB2 CRYBB1 CRYAA
5 cataract microcornea syndrome 28.6 GJA8 CRYBB2 CRYBB1 CRYAA
6 lens disease 28.4 GJA8 CRYBB2 CRYBB1 CRYAA
7 deafness progressive cataract autosomal dominant 12.2
8 optic atrophy 3, autosomal dominant 11.7
9 cataract 37 11.3
10 edict syndrome 11.2
11 obsolete: autosomal dominant childhood-onset cortical cataract 11.2
12 early-onset non-syndromic cataract 10.5
13 yemenite deaf-blind hypopigmentation syndrome 10.4
14 cataract 6, multiple types 10.2
15 cataract 14, multiple types 10.2
16 cataract 12, multiple types 10.1
17 cataract 8, multiple types 9.9
18 cataract 4, multiple types 9.9
19 cataract 41 9.9
20 microphthalmia, isolated, with cataract 1 9.9
21 retinal detachment 9.9
22 wolfram syndrome 1 9.9
23 hyperferritinemia with or without cataract 9.9
24 cataract 33, multiple types 9.9
25 cataract 39, multiple types 9.9
26 cataract 15, multiple types 9.9
27 anterior segment dysgenesis 9.9
28 suppression amblyopia 9.9
29 microphthalmia 9.9
30 myopia 9.9
31 hemosiderosis 9.9
32 iron metabolism disease 9.9
33 eye disease 9.9
34 senile cataract 9.9
35 47,xyy 9.9
36 cerulean cataract 9.9
37 chromosomal triplication 9.9
38 chromosome 2p duplication 9.9
39 rare hereditary hemochromatosis 9.9
40 mature cataract 9.9 CRYBB2 CRYAA
41 anterior segment dysgenesis 1 9.9
42 cataract 5, multiple types 9.9
43 cataract 2, multiple types 9.9
44 pathologic nystagmus 9.9
45 triosephosphate isomerase deficiency 9.8 CRYBB1 CRYAA
46 early-onset sutural cataract 9.6 GJA8 CRYBB2
47 sclerocornea 9.6 GJA8 CRYAA
48 congenital nystagmus 9.5 GJA8 CRYAA
49 nance-horan syndrome 9.5 CRYBB2 CRYBB1 CRYAA
50 aniridia 1 9.5 CRYBB2 CRYBB1 CRYAA

Graphical network of the top 20 diseases related to Cataract 9, Multiple Types:



Diseases related to Cataract 9, Multiple Types

Symptoms & Phenotypes for Cataract 9, Multiple Types

Human phenotypes related to Cataract 9, Multiple Types:

31 (show all 9)
# Description HPO Frequency HPO Source Accession
1 microphthalmia 31 occasional (7.5%) HP:0000568
2 iris coloboma 31 occasional (7.5%) HP:0000612
3 microcornea 31 occasional (7.5%) HP:0000482
4 progressive cataract 31 occasional (7.5%) HP:0007834
5 nystagmus 31 HP:0000639
6 strabismus 31 HP:0000486
7 developmental cataract 31 HP:0000519
8 glaucoma 31 HP:0000501
9 amblyopia 31 HP:0000646

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Eyes:
nystagmus
strabismus
glaucoma
amblyopia
microcornea (in some patients)
more

Clinical features from OMIM:

604219

Drugs & Therapeutics for Cataract 9, Multiple Types

Search Clinical Trials , NIH Clinical Center for Cataract 9, Multiple Types

Genetic Tests for Cataract 9, Multiple Types

Genetic tests related to Cataract 9, Multiple Types:

# Genetic test Affiliating Genes
1 Cataracts, Autosomal Dominant 29
2 Cataract, Autosomal Recessive Congenital 1 29
3 Cataract, Autosomal Dominant 29 CRYAA

Anatomical Context for Cataract 9, Multiple Types

MalaCards organs/tissues related to Cataract 9, Multiple Types:

40
Eye

Publications for Cataract 9, Multiple Types

Articles related to Cataract 9, Multiple Types:

(show all 23)
# Title Authors PMID Year
1
Identification of a novel oligomerization disrupting mutation in CRYΑA associated with congenital cataract in a South Australian family. 56 6
23255486 2013
2
Recessive congenital total cataract with microcornea and heterozygote carrier signs caused by a novel missense CRYAA mutation (R54C). 56 6
17937925 2007
3
Genetic heterogeneity in microcornea-cataract: five novel mutations in CRYAA, CRYGD, and GJA8. 56 6
17724170 2007
4
New phenotype associated with an Arg116Cys mutation in the CRYAA gene: nuclear cataract, iris coloboma, and microphthalmia. 56 6
17296897 2007
5
Identification of a novel, putative cataract-causing allele in CRYAA (G98R) in an Indian family. 56 6
16862070 2006
6
A novel fan-shaped cataract-microcornea syndrome caused by a mutation of CRYAA in an Indian family. 56 6
16735993 2006
7
Cell death triggered by a novel mutation in the alphaA-crystallin gene underlies autosomal dominant cataract linked to chromosome 21q. 56 6
14512969 2003
8
Autosomal dominant congenital cataract associated with a missense mutation in the human alpha crystallin gene CRYAA. 56 6
9467006 1998
9
Clinical variability of autosomal dominant cataract, microcornea and corneal opacity and novel mutation in the alpha A crystallin gene (CRYAA). 54 56
18302245 2008
10
Pharmacological chaperone for α-crystallin partially restores transparency in cataract models. 6
26542570 2015
11
Autosomal dominant cataract: intrafamilial phenotypic variability, interocular asymmetry, and variable progression in four Chilean families. 56
16564818 2006
12
Alteration of protein-protein interactions of congenital cataract crystallin mutants. 6
12601044 2003
13
Detection of protein-protein interactions among lens crystallins in a mammalian two-hybrid system assay. 6
11700327 2002
14
Structural and functional changes in the alpha A-crystallin R116C mutant in hereditary cataracts. 6
11123904 2000
15
A nonsense mutation (W9X) in CRYAA causes autosomal recessive cataract in an inbred Jewish Persian family. 56
11006246 2000
16
Targeted disruption of the mouse alpha A-crystallin gene induces cataract and cytoplasmic inclusion bodies containing the small heat shock protein alpha B-crystallin. 56
9023351 1997
17
[Mosaic isochromosome Xq and microduplication 17p13.3p13.2 in a patient with Turner syndrome and congenital cataract]. 61
25622172 2015
18
An alphaA-crystallin gene mutation, Arg12Cys, causing inherited cataract-microcornea exhibits an altered heat-shock response. 54
19503744 2009
19
Cataract-causing alphaAG98R mutant shows substrate-dependent chaperone activity. 54
18199971 2007
20
Mutation of the gap junction protein alpha 8 (GJA8) gene causes autosomal recessive cataract. 54
17601931 2007
21
Gene conversion mutation in crystallin, beta-B2 (CRYBB2) in a Chilean family with autosomal dominant cataract. 54
17234267 2007
22
A nonsense mutation in CRYBB1 associated with autosomal dominant cataract linked to human chromosome 22q. 54
12360425 2002
23
A unique form of autosomal dominant cataract explained by gene conversion between beta-crystallin B2 and its pseudogene. 54
11424921 2001

Variations for Cataract 9, Multiple Types

ClinVar genetic disease variations for Cataract 9, Multiple Types:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CRYAA NM_000394.4(CRYAA):c.346C>T (p.Arg116Cys)SNV Pathogenic 16957 rs74315439 21:44592214-44592214 21:43172104-43172104
2 CRYAA NM_000394.4(CRYAA):c.145C>T (p.Arg49Cys)SNV Pathogenic 16959 rs74315441 21:44589354-44589354 21:43169244-43169244
3 CRYAA NM_000394.4(CRYAA):c.347G>A (p.Arg116His)SNV Pathogenic 16960 rs121912973 21:44592215-44592215 21:43172105-43172105
4 CRYAA NM_000394.4(CRYAA):c.292G>A (p.Gly98Arg)SNV Pathogenic 68456 rs398122947 21:44590729-44590729 21:43170619-43170619
5 CRYAA NM_000394.4(CRYAA):c.160C>T (p.Arg54Cys)SNV Pathogenic 68457 rs397515623 21:44589369-44589369 21:43169259-43169259
6 CRYAA NM_000394.4(CRYAA):c.34C>T (p.Arg12Cys)SNV Pathogenic 68459 rs397515624 21:44589243-44589243 21:43169133-43169133
7 CRYAA NM_000394.4(CRYAA):c.61C>T (p.Arg21Trp)SNV Pathogenic 68460 rs397515625 21:44589270-44589270 21:43169160-43169160
8 CRYAA NM_000394.4(CRYAA):c.62G>A (p.Arg21Gln)SNV Pathogenic 68461 rs397515626 21:44589271-44589271 21:43169161-43169161
9 CRYAA NM_000394.4(CRYAA):c.444T>A (p.Thr148=)SNV Benign/Likely benign 256009 rs61735857 21:44592312-44592312 21:43172202-43172202
10 CRYAA NM_000394.4(CRYAA):c.324C>T (p.Gly108=)SNV Benign 534953 rs113802426 21:44592192-44592192 21:43172082-43172082

UniProtKB/Swiss-Prot genetic disease variations for Cataract 9, Multiple Types:

73
# Symbol AA change Variation ID SNP ID
1 CRYAA p.Arg116Cys VAR_003819 rs74315439
2 CRYAA p.Arg49Cys VAR_038375 rs74315441
3 CRYAA p.Arg21Leu VAR_046892
4 CRYAA p.Arg116His VAR_046893 rs121912973
5 CRYAA p.Arg12Cys VAR_070032 rs397515624

Expression for Cataract 9, Multiple Types

Search GEO for disease gene expression data for Cataract 9, Multiple Types.

Pathways for Cataract 9, Multiple Types

GO Terms for Cataract 9, Multiple Types

Biological processes related to Cataract 9, Multiple Types according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein homooligomerization GO:0051260 9.26 GJA8 CRYAA
2 camera-type eye development GO:0043010 9.16 GJA8 CRYBB2
3 visual perception GO:0007601 9.13 CRYBB2 CRYBB1 CRYAA
4 lens development in camera-type eye GO:0002088 8.8 GJA8 CRYBB2 CRYBB1

Molecular functions related to Cataract 9, Multiple Types according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 identical protein binding GO:0042802 9.13 MCIDAS CRYBB2 CRYAA
2 structural constituent of eye lens GO:0005212 8.8 CRYBB2 CRYBB1 CRYAA

Sources for Cataract 9, 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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