KEGG   DISEASE: Lisch 上皮性角膜ジストロフィー
エントリ  
H02822                                                             
名称    
Lisch 上皮性角膜ジストロフィー
概要    
Lisch epithelial corneal dystrophy (LECD) is a rare corneal dystrophy with characteristic whorling pattern on clinical exam with distinct pathological findings that include the presence of giant vacuoles replacing the epithelium. It has been reported that mutations in MCOLN1 cause this disease. MCOLN1 encodes a member of the TRP cation channel gene family. It localizes to intracellular vesicular membranes including lysosomes, and functions in the late endocytic pathway and in the regulation of lysosomal exocytosis.
カテゴリ  
神経系疾患
階層分類  
ICD-11 による疾患分類 [BR:jp08403]
 09 視覚系の疾患
  前眼部の疾患
   角膜の疾患
    9A70  遺伝性角膜ジストロフィ
     H02822  Lisch 上皮性角膜ジストロフィー
病因遺伝子 
MCOLN1 [HSA:57192] [KO:K04992]
リンク   
ICD-11: 9A70.Y
MeSH: C567588
OMIM: 620763
文献    
PMID:37972748
  著者
Patterson K, Chong JX, Chung DD, Lisch W, Karp CL, Dreisler E, Lockington D, Rohrbach JM, Garczarczyk-Asim D, Muller T, Tuft SJ, Skalicka P, Wilnai Y, Samra NN, Ibrahim A, Mandel H, Davidson AE, Liskova P, Aldave AJ, Bamshad MJ, Janecke AR
  タイトル
Lisch Epithelial Corneal Dystrophy Is Caused by Heterozygous Loss-of-Function Variants in MCOLN1.
  雑誌
Am J Ophthalmol 258:183-195 (2024)
DOI:10.1016/j.ajo.2023.10.011
文献    
PMID:26764880
  著者
Pole C, Sise A, Joag M, Galor A, Bermudez-Magner JA, Dubovy S, Karp CL
  タイトル
High-Resolution Optical Coherence Tomography Findings of Lisch Epithelial Corneal Dystrophy.
  雑誌
Cornea 35:392-4 (2016)
DOI:10.1097/ICO.0000000000000722
LinkDB    

» English version

DBGET integrated database retrieval system