MCID: CTR110
MIFTS: 17

Cataract 26, Multiple Types

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

Aliases & Classifications for Cataract 26, Multiple Types

MalaCards integrated aliases for Cataract 26, Multiple Types:

Name: Cataract 26, Multiple Types 54 29
Cataract, Autosomal Recessive, Early-Onset, Pulverulent 13 69
Cataract 26 Multiple Types 12
Ctrct26 12

Classifications:



External Ids:

OMIM 54 605749
Disease Ontology 12 DOID:0110246
ICD10 33 Q12.0

Summaries for Cataract 26, Multiple Types

OMIM : 54
A locus on chromosome 9q12-q22 has been found for multiple types of cataract in 1 family. These include cortical, pulverulent, nuclear, and posterior subcapsular cataracts. The preferred title/symbol for this entry was formerly 'Cataract, Autosomal Recessive, Early-Onset, Pulverulent; CAAR.' (605749)

MalaCards based summary : Cataract 26, Multiple Types, is also known as cataract, autosomal recessive, early-onset, pulverulent. An important gene associated with Cataract 26, Multiple Types is CTPL1 (Cataract, Pulverulent (Autosomal Recessive, Early-Onset)). Affiliated tissues include eye.

Disease Ontology : 12 A cataract that has material basis in variation in the region 9q13-q22.

Symptoms & Phenotypes for Cataract 26, Multiple Types

Clinical features from OMIM:

605749

Drugs & Therapeutics for Cataract 26, Multiple Types

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168

Search NIH Clinical Center for Cataract 26, Multiple Types

Genetic Tests for Cataract 26, Multiple Types

Genetic tests related to Cataract 26, Multiple Types:

id Genetic test Affiliating Genes
1 Cataract 26, Multiple Types 29

Anatomical Context for Cataract 26, Multiple Types

MalaCards organs/tissues related to Cataract 26, Multiple Types:

39
Eye

Publications for Cataract 26, Multiple Types

Variations for Cataract 26, Multiple Types

Expression for Cataract 26, Multiple Types

Search GEO for disease gene expression data for Cataract 26, Multiple Types.

Pathways for Cataract 26, Multiple Types

GO Terms for Cataract 26, Multiple Types

Sources for Cataract 26, 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
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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