Cataract 11, Multiple Types malady
Categories: Genetic diseases, Rare diseases, Eye diseases, Neuronal 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: Eye diseases, Neuronal diseases
UniProtKB/Swiss-Prot:69 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 ctpp4, is related to cataract and posterior polar cataract, and has symptoms including cataract An important gene associated with Cataract 11, Multiple Types is PITX3 (Paired Like Homeodomain 3). Affiliated tissues include eye.
Disease Ontology:11 A cataract that has material basis in heterozygous mutation in the PITX3 gene on chromosome 10q24.
OMIM:51 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 43)
Interventional clinical trials:
Search NIH Clinical Center for Cataract 11, Multiple Types
Genetic tests related to Cataract 11, Multiple Types:
MalaCards organs/tissues related to Cataract 11, Multiple Types:35
Search GEO for disease gene expression data for Cataract 11, Multiple Types.
30ICD10 via Orphanet
39MESH via Orphanet
52OMIM via Orphanet
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
68UMLS via Orphanet