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

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Aliases & Descriptions for Cataract 9, Multiple Types:

Name: Cataract 9, Multiple Types 52 70 12
Cataract, Autosomal Recessive Congenital 1 24 27 68
Autosomal Recessive Congenital Cataract 1 11 70
Cataract, Autosomal Dominant 50 68
Cataract Autosomal Dominant 70 27
Cataract 9 Multiple Types 11 13
Congenital Cataracts 24 27
 
Ctrct9 11 70
Catc1 11 70
Cataract 9, Multiple Types, with or Without Microcornea 70
Cataract 9 Multiple Types with or Without Microcornea 11
Autosomal Dominant Congenital Cataract 70
Cataracts, Autosomal Dominant 24
Congenital Cataract 50

Characteristics:

HPO:

64
cataract 9, multiple types:
Inheritance: autosomal dominant inheritance

Classifications:



External Ids:

OMIM52 604219
Disease Ontology11 DOID:0110266
ICD1030 Q12.0
MedGen37 C1858679
MeSH39 D002386

Summaries for Cataract 9, Multiple Types

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UniProtKB/Swiss-Prot:70 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 microcornea, strabismus and glaucoma. An important gene associated with Cataract 9, Multiple Types is CRYAA (Crystallin Alpha A). Affiliated tissues include eye, and related mouse phenotypes are Increased viability with SS1P at EC90 and vision/eye.

Disease Ontology:11 A cataract that has material basis in heterozygous or homozygous mutation in the CRYAA gene, which encodes alpha-A-crystallin, on chromosome 21q22.

OMIM:52 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

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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)
idRelated DiseaseScoreTop Affiliating Genes
1congenital cataracts, facial dysmorphism, and neuropathy12.2
2congenital cataracts, hearing loss, and neurodegeneration12.1
3myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay12.1
4partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome12.0
5microcephaly, congenital cataract and psoriasiform dermatitis12.0
6cataract, autosomal dominant congenital 411.9
7foxe3-related cataracts, autosomal dominant11.9
8deafness progressive cataract autosomal dominant11.8
9leukodystrophy, hypomyelinating, 511.7
10leg, absence deformity of, with congenital cataract11.6
11spinocerebellar degeneration with macular corneal dystrophy, congenital cataracts, and myopia11.6
12adult i blood group with or without congenital cataract11.6
13congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome11.6
14edict syndrome11.5
15hemorrhagic destruction of the brain, subependymal calcification, and cataracts11.3
16warburg micro syndrome11.2
17cataract 4, multiple types11.2
18cataract 21, multiple types11.2
19nance-horan syndrome11.2
20marinesco-sjogren syndrome11.2
21cataract 18, autosomal recessive11.1
22cataract 38, autosomal recessive11.1
23cataract 3, multiple types11.1
24lowe syndrome11.1
25optic atrophy 3 with cataract11.1
26cataract 34, multiple types11.0
27cataract 40, x-linked11.0
28cataract 3711.0
29cataract 13 with adult i phenotype11.0
30cataract 5, multiple types11.0
31hyperferritinemia-cataract syndrome10.9
32cataract 3610.8
33mousa al din al nassar syndrome10.8
34peroxisome biogenesis disorder 14b10.8
35warburg micro syndrome 110.8
36sengers syndrome10.8
37cerebrooculofacioskeletal syndrome 110.8
38peroxisomal fatty acyl-coa reductase 1 disorder10.8
39cerebrooculofacioskeletal syndrome 310.8
40ayme-gripp syndrome10.8
41endometrial stromal nodule10.1CRYAA, CRYBB2
42visceral heterotaxy10.0CRYGD, PITX3
43cataract10.0
44osteogenesis imperfecta, type ix10.0CRYBB2, GJA8
45charcot-marie-tooth disease type 2k10.0CRYBB2, CRYGD
46cdkl5-related disorder9.9OCRL, PITX3
47cardiomyopathy, dilated, 1ii9.9CRYAA, CRYGD, PITX3
48female breast lower-outer quadrant cancer9.9CRYAA, CRYGD
49popliteal pterygium syndrome 2, lethal type9.7CRYAA, CRYBB2, GJA8, NHS
50combined sap deficiency9.7CRYBB1, 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

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Symptoms by clinical synopsis from OMIM:

604219

Clinical features from OMIM:

604219

Human phenotypes related to Cataract 9, Multiple Types:

 64 (show all 10)
id Description HPO Frequency HPO Source Accession
1 microcornea64 HP:0000482
2 strabismus64 HP:0000486
3 glaucoma64 HP:0000501
4 visual impairment64 HP:0000505
5 cataract64 HP:0000518
6 microphthalmia64 HP:0000568
7 iris coloboma64 HP:0000612
8 nystagmus64 HP:0000639
9 amblyopia64 HP:0000646
10 progressive cataract64 HP:0007834

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

26
idDescriptionGenomeRNAi Source AccessionScoreTop Affiliating Genes
1GR00376-A-19.9CRYBB1, OCRL

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

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053917.2CRYBB2, CRYGD, GJA8, NHS, OCRL, PITX3

Drugs & Therapeutics for Cataract 9, Multiple Types

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Interventional clinical trials:

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

Genetic Tests for Cataract 9, Multiple Types

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Genetic tests related to Cataract 9, Multiple Types:

id Genetic test Affiliating Genes
1 Cataract, Autosomal Recessive Congenital 127 24 CRYAA
2 Cataracts, Autosomal Dominant27 24 PITX3
3 Cataract, Autosomal Dominant27
4 Cataract, Congenital27

Anatomical Context for Cataract 9, Multiple Types

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

36
Eye

Publications for Cataract 9, Multiple Types

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Variations for Cataract 9, Multiple Types

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

70
id Symbol AA change Variation ID SNP ID
1CRYAAp.Arg116CysVAR_003819rs74315439
2CRYAAp.Arg49CysVAR_038375rs74315441
3CRYAAp.Arg21LeuVAR_046892
4CRYAAp.Arg116HisVAR_046893rs121912973
5CRYAAp.Arg12CysVAR_070032rs397515624

Clinvar genetic disease variations for Cataract 9, Multiple Types:

5
id Gene Variation Type Significance SNP ID Assembly Location
1CRYAANM_ 000394.3(CRYAA): c.346C> T (p.Arg116Cys)SNVPathogenicrs74315439GRCh37Chr 21, 44592214: 44592214
2CRYAANM_ 000394.3(CRYAA): c.145C> T (p.Arg49Cys)SNVPathogenicrs74315441GRCh37Chr 21, 44589354: 44589354
3CRYAANM_ 000394.3(CRYAA): c.347G> A (p.Arg116His)SNVPathogenicrs121912973GRCh37Chr 21, 44592215: 44592215
4CRYAANM_ 000394.3(CRYAA): c.292G> A (p.Gly98Arg)SNVPathogenicrs398122947GRCh37Chr 21, 44590729: 44590729
5CRYAANM_ 000394.3(CRYAA): c.160C> T (p.Arg54Cys)SNVPathogenicrs397515623GRCh37Chr 21, 44589369: 44589369
6CRYAANM_ 000394.3(CRYAA): c.62G> A (p.Arg21Gln)SNVPathogenicrs397515626GRCh37Chr 21, 44589271: 44589271

Expression for genes affiliated with Cataract 9, Multiple Types

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

Pathways for genes affiliated with Cataract 9, Multiple Types

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GO Terms for genes affiliated with Cataract 9, Multiple Types

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

idNameGO IDScoreTop Affiliating Genes
1camera-type eye developmentGO:004301010.2CRYBB2, GJA8
2lens fiber cell differentiationGO:007030610.2CRYGD, PITX3
3response to stimulusGO:00508969.7CRYAA, CRYBB2, CRYGD
4lens development in camera-type eyeGO:00020889.1CRYGD, GJA8, NHS, PITX3
5visual perceptionGO:00076018.1CRYAA, CRYBB1, CRYBB2, CRYGD, GJA8

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

idNameGO IDScoreTop Affiliating Genes
1structural constituent of eye lensGO:00052128.6CRYAA, CRYBB1, CRYBB2, CRYGD

Sources for Cataract 9, Multiple Types

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet