Cataract 40 (CTRCT40)

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OMIM 57 302200 Disease Ontology 12 DOID:0110272 ICD10 33 Q12.0 MedGen 42 C4049004 C2752078 C2930878

MeSH 44 D002386 SNOMED-CT via HPO 69 397541004 263934009 53889007 UMLS 73 C4049004

UniProtKB/Swiss-Prot : ⁷⁵ Cataract 40: 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. CTRCT40 manifests as a congenital nuclear opacity with severe visual impairment in affected males. Heterozygous females have suture cataracts and only slight reduction in vision. 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 40, also known as cataract 40 with or without microcornea, is related to suppressor of tumorigenicity 3 and cataract, congenital, with microcornea or slight microphthalmia. An important gene associated with Cataract 40 is NHS (NHS Actin Remodeling Regulator). Affiliated tissues include eye, lung and breast, and related phenotypes are nuclear cataract and severe vision loss

Disease Ontology : ¹² A cataract that has material basis in mutation in the NHS gene on chromosome Xp22.

Description from OMIM: 302200

Clinical features from OMIM:

302200

Search Clinical Trials , NIH Clinical Center for Cataract 40

Search GEO for disease gene expression data for Cataract 40.