Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Target Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Query: UMLS:C0033377 (
prolapse
)
11,717
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
Biallelic mutations in the nuclear gene LONP1 (
LON
peptidase 1, mitochondrial) cause CODAS syndrome (cerebral, ocular, dental, auricular, and skeletal anomalies), a systemic disease that can include infantile cataract. However, we have found that biallelic mutations in the gene can also underlie infantile cataract in the setting of minimal or no apparent extraocular findings. This report highlights our clinical experience with children referred for the management of infantile cataract who were found to harbor biallelic LONP1 gene mutations.
Ptosis
, external ear abnormalities, and joint abnormalities were accompanying findings and thus should raise suspicion for mutations in the gene when one or more are present in children with infantile cataract.
...
PMID:Clinical features of LONP1-related infantile cataract. 2940 17
