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Norrie disease

An X-linked recessive disorder characterized by very early childhood blindness due to degenerative and proliferative changes of the neuroretina. Approximately 50% of patients show some form of progressive mental disorder, often with PSYCHOSIS, and about one-third of patients develop SENSORINEURAL HEARING LOSS in the second decade. Growth failure and SEIZURES may also occur. Mutations in the NDP gene have been identified. OMIM: 310600
Also Known As:
Anderson-Warburg Syndrome; Atrophia bulborum hereditaria; Congenital Progressive Oculo-Acoustico-Cerebral Degeneration; Episkopi blindness; Fetal Iritis Syndrome; Norrie syndrome; Norrie's Disease; Norrie-Warburg syndrome; Oligophrenia Microphthalmus; Pseudoglioma; Pseudoglioma Congenita; Whitnall-Norman Syndrome
Networked: 167 relevant articles (2 outcomes, 10 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1. Retinal Detachment (Retinal Detachments)
2. Norrie disease
3. Osteoporosis
4. Blindness (Hysterical Blindness)
5. Familial Exudative Vitreoretinopathies

Experts

1. Berger, Wolfgang: 6 articles (01/2017 - 02/2005)
2. Drenser, Kimberly A: 5 articles (11/2022 - 02/2007)
3. Capone, Antonio: 4 articles (11/2022 - 02/2007)
4. Trese, Michael T: 4 articles (11/2022 - 02/2007)
5. Dailey, Wendy: 3 articles (11/2022 - 02/2007)
6. Shapiro, Michael J: 3 articles (09/2021 - 10/2010)
7. Seeliger, Mathias W: 3 articles (01/2017 - 02/2005)
8. Nathans, Jeremy: 3 articles (01/2014 - 03/2004)
9. Shastry, B S: 3 articles (01/2001 - 07/2000)
10. Trese, M T: 3 articles (01/2001 - 07/2000)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Norrie disease:
1. Monoamine Oxidase (MAO)IBA
2. DNA (Deoxyribonucleic Acid)IBA
3. Genetic Markers (Genetic Marker)IBA
4. Ornithine-Oxo-Acid Transaminase (Ornithine Aminotransferase)IBA
5. Complementary DNA (cDNA)IBA
6. CateninsIBA
7. Blood Group Antigens (Blood Groups)IBA
8. LectinsIBA
9. GlycoconjugatesIBA
10. Carrier Proteins (Binding Protein)IBA

Therapies and Procedures

1. Vitrectomy
2. Lasers (Laser)
3. Catheters
4. Penetrating Keratoplasty
5. Therapeutics