CTRCT9
MCID: CTR130
MIFTS: 37

Cataract 9, Multiple Types (CTRCT9) malady

Categories: Genetic diseases, Eye diseases, Rare diseases, Fetal diseases, Neuronal diseases

Aliases & Classifications for Cataract 9, Multiple Types

Aliases & Descriptions for Cataract 9, Multiple Types:

Name: Cataract 9, Multiple Types 54 66 13
Cataract, Autosomal Recessive Congenital 1 24 29 69
Autosomal Recessive Congenital Cataract 1 12 66
Cataract, Autosomal Dominant 52 69
Cataract Autosomal Dominant 66 29
Cataract 9 Multiple Types 12 14
Congenital Cataracts 24 29
Ctrct9 12 66
Catc1 12 66
Cataract 9, Multiple Types, with or Without Microcornea 66
Cataract 9 Multiple Types with or Without Microcornea 12
Autosomal Dominant Congenital Cataract 66
Cataracts, Autosomal Dominant 24
Congenital Cataract 52

Characteristics:

HPO:

32
cataract 9, multiple types:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 54 604219
Disease Ontology 12 DOID:0110266
ICD10 33 Q12.0
MedGen 40 C1858679
MeSH 42 D002386

Summaries for Cataract 9, Multiple Types

UniProtKB/Swiss-Prot : 66 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 recessive congenital 1, is related to congenital cataracts, facial dysmorphism, and neuropathy and congenital cataracts, hearing loss, and neurodegeneration, and has symptoms including nystagmus, cataract and visual impairment. An important gene associated with Cataract 9, Multiple Types is CRYAA (Crystallin Alpha A). Affiliated tissues include eye, and related phenotypes are Increased viability with SS1P at EC90 and vision/eye

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

OMIM : 54 Mutations in the CRYAA gene have been found to cause multiple types of cataract, which have been described as nuclear,... (604219) more...

Related Diseases for Cataract 9, Multiple Types

Diseases in the Cataract family:

Cataract 8, Multiple Types Cataract 6, Multiple Types
Cataract 34, Multiple Types Cataract 1, Multiple Types
Cataract 39, Multiple Types, Autosomal Dominant Cataract 2, Multiple Types
Cataract 4, Multiple Types Cataract 42
Cataract 18, Autosomal Recessive Cataract 20, Multiple Types
Cataract 41 Cataract 38, Autosomal Recessive
Cataract 26, Multiple Types Cataract 36
Cataract 11, Multiple Types Cataract 16, Multiple Types
Cataract 15, Multiple Types Cataract 14, Multiple Types
Cataract 32, Multiple Types Cataract 25
Cataract 5, Multiple Types Cataract 21, Multiple Types
Cataract 43 Cataract 10, Multiple Types
Cataract 7 Cataract 19
Cataract 33 Cataract 31, Multiple Types
Cataract 9, Multiple Types Cataract 44
Cataract 17, Multiple Types Cataract 3, Multiple Types
Cataract 22, Autosomal Recessive Cataract 23
Cataract 46 Juvenile-Onset Cataract 28
Cataract 37 Cataract 35
Cataract 45 Cataract 19 Multiple Types
Cataract Congenital Autosomal Dominant Cataract, Total Congenital
Cataract 47 Cataract, Autosomal Dominant Congenital 4
Cataracts, Autosomal Recessive Foxe3-Related Cataracts, Autosomal Dominant

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

(show top 50) (show all 55)
id Related Disease Score Top Affiliating Genes
1 congenital cataracts, facial dysmorphism, and neuropathy 12.2
2 congenital cataracts, hearing loss, and neurodegeneration 12.1
3 myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay 12.1
4 partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome 12.0
5 microcephaly, congenital cataract and psoriasiform dermatitis 12.0
6 cataract, autosomal dominant congenital 4 11.9
7 foxe3-related cataracts, autosomal dominant 11.9
8 deafness progressive cataract autosomal dominant 11.8
9 leukodystrophy, hypomyelinating, 5 11.7
10 adult i blood group with or without congenital cataract 11.6
11 congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome 11.6
12 leg, absence deformity of, with congenital cataract 11.6
13 spinocerebellar degeneration with macular corneal dystrophy, congenital cataracts, and myopia 11.6
14 edict syndrome 11.5
15 hemorrhagic destruction of the brain, subependymal calcification, and cataracts 11.3
16 warburg micro syndrome 11.2
17 cataract 4, multiple types 11.2
18 cataract 21, multiple types 11.2
19 nance-horan syndrome 11.2
20 marinesco-sjogren syndrome 11.2
21 cataract 18, autosomal recessive 11.1
22 cataract 3, multiple types 11.1
23 cataract 38, autosomal recessive 11.1
24 lowe syndrome 11.1
25 optic atrophy 3 with cataract 11.1
26 cataract 34, multiple types 11.0
27 cataract 37 11.0
28 cataract 40, x-linked 11.0
29 cataract 5, multiple types 11.0
30 cataract 13 with adult i phenotype 11.0
31 hyperferritinemia-cataract syndrome 10.9
32 mousa al din al nassar syndrome 10.8
33 cataract 36 10.8
34 cerebrooculofacioskeletal syndrome 3 10.8
35 peroxisome biogenesis disorder 14b 10.8
36 warburg micro syndrome 1 10.8
37 ayme-gripp syndrome 10.8
38 sengers syndrome 10.8
39 cerebrooculofacioskeletal syndrome 1 10.8
40 peroxisomal fatty acyl-coa reductase 1 disorder 10.8
41 endometrial stromal nodule 10.1 CRYAA CRYBB2
42 visceral heterotaxy 10.0 CRYGD PITX3
43 cataract 10.0
44 charcot-marie-tooth disease type 2k 10.0 CRYBB2 CRYGD
45 osteogenesis imperfecta, type ix 10.0 CRYBB2 GJA8
46 cdkl5-related disorder 9.9 OCRL PITX3
47 cardiomyopathy, dilated, 1ii 9.9 CRYAA CRYGD PITX3
48 female breast lower-outer quadrant cancer 9.9 CRYAA CRYGD
49 popliteal pterygium syndrome 2, lethal type 9.7 CRYAA CRYBB2 GJA8 NHS
50 combined sap deficiency 9.7 CRYBB1 CRYBB2 CRYGD GJA8

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

Symptoms by clinical synopsis from OMIM:

604219

Clinical features from OMIM:

604219

Human phenotypes related to Cataract 9, Multiple Types:

32 (show all 10)
id Description HPO Frequency HPO Source Accession
1 nystagmus 32 HP:0000639
2 cataract 32 HP:0000518
3 visual impairment 32 HP:0000505
4 strabismus 32 HP:0000486
5 microphthalmia 32 HP:0000568
6 glaucoma 32 HP:0000501
7 amblyopia 32 HP:0000646
8 iris coloboma 32 HP:0000612
9 microcornea 32 HP:0000482
10 progressive cataract 32 HP:0007834

GenomeRNAi Phenotypes related to Cataract 9, Multiple Types according to GeneCards Suite gene sharing:

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased viability with SS1P at EC90 GR00376-A-1 8.62 CRYBB1 OCRL

MGI Mouse Phenotypes related to Cataract 9, Multiple Types:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 vision/eye MP:0005391 9.1 CRYBB2 CRYGD GJA8 NHS OCRL PITX3

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:

id Genetic test Affiliating Genes
1 Cataract, Autosomal Recessive Congenital 1 29 24 CRYAA
2 Cataracts, Autosomal Dominant 29 24 PITX3
3 Cataract, Autosomal Dominant 29
4 Cataract, Congenital 29

Anatomical Context for Cataract 9, Multiple Types

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

39
Eye

Publications for Cataract 9, Multiple Types

Variations for Cataract 9, Multiple Types

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

66
id 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

ClinVar genetic disease variations for Cataract 9, Multiple Types:

6 (show all 22)
id Gene Variation Type Significance SNP ID Assembly Location
1 PITX3 NM_005029.3(PITX3): c.38G> A (p.Ser13Asn) single nucleotide variant Pathogenic rs104894175 GRCh37 Chromosome 10, 103991800: 103991800
2 CRYGD NM_006891.3(CRYGD): c.70C> A (p.Pro24Thr) single nucleotide variant Pathogenic rs28931605 GRCh37 Chromosome 2, 208989018: 208989018
3 CRYAA NM_000394.3(CRYAA): c.346C> T (p.Arg116Cys) single nucleotide variant Pathogenic rs74315439 GRCh37 Chromosome 21, 44592214: 44592214
4 CRYAA NM_000394.3(CRYAA): c.145C> T (p.Arg49Cys) single nucleotide variant Pathogenic rs74315441 GRCh37 Chromosome 21, 44589354: 44589354
5 CRYAA NM_000394.3(CRYAA): c.347G> A (p.Arg116His) single nucleotide variant Pathogenic rs121912973 GRCh37 Chromosome 21, 44592215: 44592215
6 CRYAA NM_000394.3(CRYAA): c.292G> A (p.Gly98Arg) single nucleotide variant Pathogenic rs398122947 GRCh37 Chromosome 21, 44590729: 44590729
7 CRYAA NM_000394.3(CRYAA): c.160C> T (p.Arg54Cys) single nucleotide variant Pathogenic rs397515623 GRCh37 Chromosome 21, 44589369: 44589369
8 CRYAA NM_000394.3(CRYAA): c.61C> T (p.Arg21Trp) single nucleotide variant Pathogenic rs397515625 GRCh37 Chromosome 21, 44589270: 44589270
9 CRYAA NM_000394.3(CRYAA): c.62G> A (p.Arg21Gln) single nucleotide variant Pathogenic rs397515626 GRCh37 Chromosome 21, 44589271: 44589271
10 CRYGC NM_020989.3(CRYGC): c.497C> T (p.Ser166Phe) single nucleotide variant Pathogenic rs587778872 GRCh37 Chromosome 2, 208992955: 208992955
11 GJA8 NM_005267.4(GJA8): c.134G> C (p.Trp45Ser) single nucleotide variant Pathogenic rs864309688 GRCh37 Chromosome 1, 147380216: 147380216
12 CRYGD NM_006891.3(CRYGD): c.448dupG (p.Asp150Glyfs) duplication Pathogenic rs864309701 GRCh37 Chromosome 2, 208986474: 208986474
13 CRYGC NM_020989.3(CRYGC): c.328_329delCCinsT (p.Pro110Serfs) indel Pathogenic rs864309689 GRCh37 Chromosome 2, 208993123: 208993124
14 PAX6 NM_001604.5(PAX6): c.1119delC (p.Thr374Profs) deletion Pathogenic rs864309681 GRCh38 Chromosome 11, 31790816: 31790816
15 MIP NM_012064.3(MIP): c.597_598insGGGAACATTCCACT (p.Asn200Glyfs) insertion Pathogenic rs864309696 GRCh38 Chromosome 12, 56453080: 56453081
16 MIP NM_012064.3(MIP): c.97C> T (p.Arg33Cys) single nucleotide variant Pathogenic rs864309693 GRCh38 Chromosome 12, 56454517: 56454517
17 GJA3 NM_021954.3(GJA3): c.260C> T (p.Thr87Met) single nucleotide variant Pathogenic rs864309687 GRCh37 Chromosome 13, 20717168: 20717168
18 GJA3 NM_021954.3(GJA3): c.176C> T (p.Pro59Leu) single nucleotide variant Pathogenic rs864309691 GRCh37 Chromosome 13, 20717252: 20717252
19 NHS NM_198270.3(NHS): c.2707delG (p.Glu903Asnfs) deletion Pathogenic rs864309679 GRCh38 Chromosome X, 17726876: 17726876
20 NHS NM_198270.3(NHS): c.3624C> A (p.Cys1208Ter) single nucleotide variant Pathogenic rs111534978 GRCh38 Chromosome X, 17727793: 17727793
21 BCOR NM_001123383.1(BCOR): c.4288_4291delGAGA (p.Glu1430Profs) deletion Pathogenic rs864309680 GRCh38 Chromosome X, 40062174: 40062177
22 BCOR NM_001123383.1(BCOR): c.1136_1139delTTAG (p.Val379Alafs) deletion Pathogenic rs864309702 GRCh38 Chromosome X, 40074207: 40074210

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:

id Name GO ID Score Top Affiliating Genes
1 response to stimulus GO:0050896 9.5 CRYAA CRYBB2 CRYGD
2 visual perception GO:0007601 9.35 CRYAA CRYBB1 CRYBB2 CRYGD GJA8
3 camera-type eye development GO:0043010 9.26 CRYBB2 GJA8
4 lens fiber cell differentiation GO:0070306 9.16 CRYGD PITX3
5 lens development in camera-type eye GO:0002088 8.92 CRYGD GJA8 NHS PITX3

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

id Name GO ID Score Top Affiliating Genes
1 structural constituent of eye lens GO:0005212 8.92 CRYAA CRYBB1 CRYBB2 CRYGD

Sources for Cataract 9, Multiple Types

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
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48 NDF-RT
51 NINDS
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54 OMIM
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60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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