Norrie Disease (ND)

Norrie Disease(来自ICD-11)
别称:
Atrophia Bulborum Hereditaria
Episkopi Blindness
Norrie-Warburg Disease
Nd
Congenital Progressive Oculo-Acoustico-Cerebral Degeneration
Oligophrenia Microphthalmus
Anderson-Warburg Syndrome
Whitnall-Norman Syndrome
Norrie-Warburg Syndrome
Pseudoglioma Congenita
Fetal Iritis Syndrome
Norrie's Disease
Norrie Syndrome
Pseudoglioma
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Basic Information
Medical Symptom
Gene & Mutation
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References Literature
Norrie Disease, also known as atrophia bulborum hereditaria, is related to persistent hyperplastic primary vitreous, autosomal recessive and exudative vitreoretinopathy 2, x-linked. An important gene associated with Norrie Disease is NDP (Norrin Cystine Knot Growth Factor NDP), and among its related pathways/superpathways are Signaling by WNT and ncRNAs involved in Wnt signaling in hepatocellular carcinoma. The drugs Sodium citrate and Lithium carbonate have been mentioned in the context of this disorder. Affiliated tissues include eye and retina, and related phenotypes are cataract and corneal opacity
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参考文献
MALACARDS
XL
XLD
Antenatal
--
50
474
62

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