Aniridia-absent patella syndrome

A rare syndrome described in three members of a family (a boy, his father, and his paternal grandmother) that is characterized by the association of aniridia with patella aplasia or hypoplasia. The grandmother also had bilateral cataracts and glaucoma. There have been no further descriptions in the literature since 1975.



患者の 徴候症状 を入力


症例報告を絞り込む



合計: 0 (症例報告)

  


(表示件数)
対応する徴候・症状  遺伝子  変異  キーワード(MeSH)
順位
(類似度)
PMID
(PMCID)
        

徴候・症状リスト(Orphanetデータベースから取得)

    合計: 8

HPO ID 徴候・症状 頻度
HP:0000526 無虹彩症 Very frequent (99-80%)
HP:0006498 膝蓋骨無形成/低形成 Very frequent (99-80%)
HP:0000023 鼠径ヘルニア Frequent (79-30%)
HP:0000028 停留精巣 Frequent (79-30%)
HP:0000501 緑内障 Frequent (79-30%)
HP:0000508 眼瞼下垂 Frequent (79-30%)
HP:0000518 白内障 Frequent (79-30%)
HP:0001252 筋緊張低下 Frequent (79-30%)


徴候・症状リスト(症例報告から取得)

    合計: 0

HPO ID 徴候・症状 症例報告数


疾患原因遺伝子リスト(Orphanetデータベースから取得)

    合計: 0

Gene Symbol 遺伝子名 Entrez Gene ID