Atypical Norrie disease due to Xp11.3 microdeletion
Synonyms: Atypical Norrie disease due to del(X)(p11.3) · Atypical Norrie disease due to nullisomy Xp11.3
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Neonatal
- Status
- active
A rare chromosomal anomaly syndrome, resulting from the partial deletion of the short arm of chromosome X, principally characterized by classical Norrie disease (bilateral, severe retinal malformations and opacity of the lens leading to congenital blindness, on occasion associated with progressive sensorineural deafness and intellectual disability), microcephaly, hypotonia, psychomotor and growth delay, moderate to severe mental handicap and disruptive behaviour. Clinical phenotype is highly variable and immunodeficiency, epilepsy and hypogonadism have also been reported.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Atypical Norrie disease due to Xp11.3 microdeletion | Atypical Norrie disease due to del(X)(p11.3) · Atypical Norrie disease due to nullisomy Xp11.3 |
| fr | Maladie de Norrie atypique due à une microdélétion Xp11.3 | Maladie de Norrie atypique due à une del(X)(p11.3) · Maladie de Norrie atypique due à une nullisomie Xp11.3 |
| de | Norrie-Syndrom, atypisches, durch Mikrodeletion Xp11.3 | Norrie-Syndrom, atypisches, durch Del(X)(p11.3) · Norrie-Syndrom, atypisches, durch Monosomie Xp11.3 |
| es | Enfermedad de Norrie atípica por microdeleción Xp11.3 | Enfermedad de Norrie atípica por nulisomía Xp11.3 · Enfermedad de Norrie atípica por del(X)(p11.3) |
| it | Malattia atipica di Norrie da microdelezione Xp11.3 | Malattia atipica di Norrie da del(X)(p11.3) · Malattia atipica di Norrie da microdelezione Xp11.3 |
| nl | Atypische ziekte van Norrie door Xp11.3-microdeletie | Atypische ziekte van Norrie door del(X)(p11.3) · Atypische ziekte van Norrie door nullisomie Xp11.3 |
| pt | Doença de Norrie atípica por monossomia Xp11.3 | |
| pl | Atypowa choroba Norriego z powodu monosomii Xp11.3 | Atypowa choroba Norriego z powodu del(X)(p11.3) · Atypowa choroba Norriego z powodu mikroduplikacji Xp11.3 |
| cs | Atypická Norrieova nemoc způsobená monozomií Xp11.3 | Atypická Norrieova nemoc způsobená X11.3 mikrodelecí · Atypická Norrieova nemoc způsobená del(X)(p11.3) |
| uk | Атипова хвороба Норрі внаслідок мікроделеції Xp11.3 | Атипова хвороба Норрі через del(X)(p11.3) · Атипова хвороба Норрі внаслідок нулісомії Xp11.3 |
| zh | Xp11.3微缺失所致非典型Norrie病 | Xp11.3缺体所致非典型Norrie病 |
| tr | Xp11.3 mikrodelesyonuna bağlı atipik Norrie hastalığı | Del (X) 'e bağlı atipik Norrie hastalığı (p11.3) · Nullisomy Xp11.3'e bağlı atipik Norrie hastalığı |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | H35.5 | NTBT | attributed | validated |
| MONDO | 0016850 | E | validated | |
| UMLS | C4518083 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:263731Partial deletion of the short arm of the chromosome X syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/261501
- This record as JSON: /data/d/261501.json