Norrie disease

Preferred Label : Norrie disease;

Symbol : ND;

CISMeF acronym : ND;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Atrophia bulborum hereditaria; Episkopi blindness;

Description : Norrie disease is 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 psychotic features, and about one-third of patients develop sensorineural deafness in the second decade. In addition, some patients have more complex phenotypes, including growth failure and seizures (Berger et al., 1992). Warburg (1966) noted confusion of the terms 'pseudoglioma' and microphthalmia with Norrie disease in the literature. 'Pseudoglioma' is a nonspecific term for any condition resembling retinoblastoma and can have diverse causes, including inflammation, hemorrhage, trauma, neoplasia, or congenital malformation, and often shows unilateral involvement. Thus, 'pseudoglioma' is not an acceptable clinical or pathologic diagnosis (Duke-Elder, 1958).;

Inheritance : X-linked recessive;

Molecular basis : Caused by mutation in the norrin gene (NDP, 300658.0001);

Prefixed ID : #310600;

Details

Origin ID

310600;

UMLS CUI

C0266526;

Automatic exact mappings (from CISMeF team)
- CDISC SDTM Not Done Terminology [NCIt concept]
- Naturopathic Doctor [NCIt concept]
- Norrie disease [ICD-11 More detail]
- North Dakota [NCIt concept]
- diazonaphthalenedisulfonic acid [MeSH concept]
- diazonaphthalenedisulfonic acid [MeSH Supplementary Concept]
Currated CISMeF NLP mapping
- Atrophia bulborum hereditaria (disorder) [SNOMED CT concept]
- Norrie Syndrome [NCIt concept]
- Norrie disease [PASCAL descriptor]
- Norrie disease [DO Concept]
- Norrie disease [MeSH concept]
- Norrie disease [ORDO Disease]
- Norrie's disease [MedDRA Preferred Term]
- atrophia bulborum hereditaria [SNOMED Notion]
- norrie disease [MeSH Supplementary Concept]
DO Cross reference
- Norrie disease [DO Concept]
Genes related to phenotype
- Norrin cystine knot growth factor ndp [OMIM gene]
HPO term(s)
- Aggressive behavior [HPO term]
- Blindness [HPO term]
- Blindness in infancy or very early childhood [HPO term]
- Cataract [HPO term]
- Corneal opacity [HPO term]
- Deafness [HPO term]
- Dementia [HPO term]
- Hallucinations [HPO term]
- Hypoplasia of the iris [HPO term]
- Intellectual disability, progressive [HPO term]
- Microphthalmia [HPO term]
- Opacification of the corneal stroma [HPO term]
- Optic atrophy [HPO term]
- Psychosis [HPO term]
- Retinal detachment [HPO term]
- Retinal dysgenesis [HPO term]
- Retinal dysplasia [HPO term]
- Retinal fold [HPO term]
- Seizure [HPO term]
- Sensorineural hearing impairment [HPO term]
- Shallow anterior chamber [HPO term]
- X-linked recessive inheritance [HPO term]
ORDO concept(s)
- Norrie disease [ORDO Disease]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
UMLS correspondences (same concept)
- Atrophia bulborum hereditaria (disorder) [SNOMED CT concept]
- Norrie Syndrome [NCIt concept]
- Norrie disease [ORDO Disease]
- Norrie disease [MeSH concept]
- Norrie disease [DO Concept]
- Norrie disease [PASCAL descriptor]
- Norrie's disease [MedDRA Preferred Term]
- atrophia bulborum hereditaria [SNOMED Notion]
- norrie disease [MeSH Supplementary Concept]

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