MCID: CTR130
MIFTS: 27

Cataract 9, Multiple Types malady

Genetic diseases, Rare diseases, Eye diseases, Fetal diseases categories

Summaries for Cataract 9, Multiple Types

About this section


OMIM:45 Mutations in the CRYAA gene have been found to cause multiple types of cataract, which have been described as nuclear,... (604219) more...

MalaCards based summary: Cataract 9, Multiple Types, also known as cataract, autosomal recessive congenital 1, is related to cataract and optic atrophy 3 with cataract, and has symptoms including microcornea, microphthalmos and iris coloboma. An important gene associated with Cataract 9, Multiple Types is CRYAA (crystallin, alpha A). The compound tyrosine have been mentioned in the context of this disorder. Related mouse phenotypes are cellular and vision/eye.

Aliases & Classifications for Cataract 9, Multiple Types

About this section
Sources:
45OMIM, 10diseasecard, 20GeneTests, 22GTR, 43Novoseek
See all sources

Cataract 9, Multiple Types, Aliases & Descriptions:

Name: Cataract 9, Multiple Types 45 10
Cataract, Autosomal Recessive Congenital 1 20 22
 
Cataract, Autosomal Dominant 43 22
Cataracts, Autosomal Dominant 20


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases, Fetal diseases
Anatomical: Eye diseases


External Ids:

OMIM45 604219

Related Diseases for Cataract 9, Multiple Types

About this section

Diseases in the Cataract family:

Cataract 8, Multiple Types Cataract 6, Multiple Types
Cataract 34, Multiple Types Cataract 1, Multiple Types
Cataract 2, Multiple Types Cataract 4, Multiple Types
Cataract 42 Cataract 12, Multiple Types
Cataract 20, Multiple Types Cataract 41
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 10, Multiple Types Cataract 7
Cataract 19 Cataract 33
Cataract 31, Multiple Types cataract 9, multiple types
Cataract 17, Multiple Types Cataract 3, Multiple Types
Cataract 23 Cataract 39, Multiple Types, Autosomal Dominant
Cataract 18, Autosomal Recessive Cataract 38, Autosomal Recessive
Cataract 22, Autosomal Recessive Cataract Congenital Autosomal Dominant
Cataract, Total Congenital Cataracts, Autosomal Recessive
Cataract, Autosomal Dominant, Multiple Types 1 Foxe3-Related Cataracts, Autosomal Dominant

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

idRelated DiseaseScoreTop Affiliating Genes
1cataract30.1CRYAA, PITX3
2optic atrophy 3 with cataract10.6
3deafness progressive cataract autosomal dominant10.3
4cataract, autosomal dominant, multiple types 110.3
5foxe3-related cataracts, autosomal dominant10.3
6autosomal dominant childhood-onset cortical cataract10.2
7cerulean cataract10.0
8microphthalmia9.7CRYAA, PITX3

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



Diseases related to cataract 9, multiple types

Symptoms for Cataract 9, Multiple Types

About this section

Symptoms by clinical synopsis from OMIM:

604219

Clinical features from OMIM:

604219

HPO human phenotypes related to Cataract 9, Multiple Types:

(show all 10)
id Description Frequency HPO Source Accession
1 microcornea rare (5%) HP:0000482
2 microphthalmos rare (5%) HP:0000568
3 iris coloboma rare (5%) HP:0000612
4 progressive cataract rare (5%) HP:0007834
5 autosomal dominant inheritance HP:0000006
6 strabismus HP:0000486
7 glaucoma HP:0000501
8 cataract HP:0000518
9 nystagmus HP:0000639
10 amblyopia HP:0000646

Drugs & Therapeutics for Cataract 9, Multiple Types

About this section

Drug clinical trials:

Search ClinicalTrials for Cataract 9, Multiple Types

Search NIH Clinical Center for Cataract 9, Multiple Types

Genetic Tests for Cataract 9, Multiple Types

About this section

Genetic tests related to Cataract 9, Multiple Types:

id Genetic test Affiliating Genes
1 Cataracts, Autosomal Dominant20 22 PITX3
2 Cataract, Autosomal Recessive Congenital 120 22 CRYAA
3 Cataract, Autosomal Dominant22

Anatomical Context for Cataract 9, Multiple Types

About this section

Animal Models for Cataract 9, Multiple Types or affiliated genes

About this section

MGI Mouse Phenotypes related to Cataract 9, Multiple Types:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053849.1CRYAA, PITX3
2MP:00053918.8CRYAA, PITX3

Publications for Cataract 9, Multiple Types

About this section

Variations for Cataract 9, Multiple Types

About this section

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

62
id Symbol AA change Variation ID SNP ID
1CRYAAp.Arg116CysVAR_003819
2CRYAAp.Arg49CysVAR_038375
3CRYAAp.Arg21LeuVAR_046892
4CRYAAp.Arg116HisVAR_046893
5CRYAAp.Arg12CysVAR_070032

Clinvar genetic disease variations for Cataract 9, Multiple Types:

6
id Gene Variation Type Significance SNP ID Assembly Location
1CRYAANM_000394.3(CRYAA): c.346C> T (p.Arg116Cys)single nucleotide variantPathogenicrs74315439GRCh37Chr 21, 44592214: 44592214
2CRYAANM_000394.3(CRYAA): c.145C> T (p.Arg49Cys)single nucleotide variantPathogenicrs74315441GRCh37Chr 21, 44589354: 44589354
3CRYAANM_000394.3(CRYAA): c.347G> A (p.Arg116His)single nucleotide variantPathogenicrs121912973GRCh37Chr 21, 44592215: 44592215
4CRYAANM_000394.3(CRYAA): c.292G> A (p.Gly98Arg)single nucleotide variantPathogenicrs398122947GRCh37Chr 21, 44590729: 44590729
5CRYAANM_000394.3(CRYAA): c.160C> T (p.Arg54Cys)single nucleotide variantPathogenicrs397515623GRCh37Chr 21, 44589369: 44589369
6CRYAANM_000394.3(CRYAA): c.62G> A (p.Arg21Gln)single nucleotide variantPathogenicrs397515626GRCh37Chr 21, 44589271: 44589271

Expression for genes affiliated with Cataract 9, Multiple Types

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

Pathways for genes affiliated with Cataract 9, Multiple Types

About this section

Compounds for genes affiliated with Cataract 9, Multiple Types

About this section
Sources:
43Novoseek
See all sources

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

idCompoundScoreTop Affiliating Genes
1tyrosine439.1CRYAA, PITX3

GO Terms for genes affiliated with Cataract 9, Multiple Types

About this section

Products for genes affiliated with Cataract 9, Multiple Types

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Cataract 9, Multiple Types

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet