Norrie Disease (ND)

Alias:
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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基础信息
疾病表征
基因 & 突变
靶点药物
疾病模型
文献报道
诺里病,又称遗传性球状萎缩症,与持久性原发性玻璃体增生、常染色体隐性遗传和X连锁渗出性玻璃体视网膜病变2有关。诺里病的一个重要基因是NDP(Norrin Cystine Knot Growth Factor NDP),其相关通路/超级通路包括WNT信号传导和肝细胞癌中的Wnt信号传导相关的ncRNAs。在该疾病的背景下,已提到的药物有柠檬酸钠和碳酸锂。相关组织包括眼睛和视网膜,相关表型包括白内障和角膜混浊。
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
X染色体
X显
胎儿期
--
50
477
62

Medical Symptom

#
Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

#
Gene
Function
Score
Mutations
No data available

Related Drugs

Name
CAS Number
Status
Phase
No data available

Disease Model

Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

Title
PMID
Journal
Year
IF
No Data Found!
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