Cataract 11, Multiple Types malady
Categories: Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Fetal diseases
Aliases & Descriptions for Cataract 11, Multiple Types:
cataract 11, multiple types:
Inheritance: autosomal dominant inheritance
Global: Genetic diseases, Rare diseases, Fetal diseases
Anatomical: Neuronal diseases, Eye diseases
UniProtKB/Swiss-Prot:67 Cataract 11, 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. CTRCT11 includes posterior polar cataract, among others. Posterior polar cataract is a subcapsular opacity, usually disk-shaped, located at the back of the lens. Some CTRCT11 patients can present a severe phenotype including microphthalmia and neurological dysfunction.
MalaCards based summary: Cataract 11, Multiple Types, also known as cataract, posterior polar, 4, is related to acanthosis nigricans, and has symptoms including cataract An important gene associated with Cataract 11, Multiple Types is PITX3 (Paired Like Homeodomain 3). Affiliated tissues include eye.
OMIM:49 Mutations in the PITX3 gene have been found to cause multiple types of cataract, which have been described as... (610623) more...
Drugs for Cataract 11, Multiple Types (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):(show all 42)
Interventional clinical trials:
Search NIH Clinical Center for Cataract 11, Multiple Types
MalaCards organs/tissues related to Cataract 11, Multiple Types:33
Search GEO for disease gene expression data for Cataract 11, Multiple Types.
28ICD10 via Orphanet
37MESH via Orphanet
50OMIM via Orphanet
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
66UMLS via Orphanet