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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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
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
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
XL
XLD
Antenatal
--
50
477
62

Medical Symptom

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

Gene & Mutation

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Gene
Function
Score
Mutations
No data available

Related Drugs

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CAS Number
Status
Phase
No data available

Disease Model

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

References Literature

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PMID
Journal
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IF
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