ORPHA:2571
Woods-Black-Norbury syndrome
historical
- Type
- Disease
- Group
- Disorder
- Inheritance
- X-linked dominant
- Status
- historical
X-linked immunoneurologic disorder is characterized by immune deficiency and neurological disorders in females, and by neonatal death in males.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Woods-Black-Norbury syndrome | |
| fr | Syndrome de Woods-Black-Norbury | |
| de | Woods-Black-Norbury-Syndrom | |
| es | Síndrome de Woods-Black-Norbury | |
| it | Sindrome di Woods-Black-Norbury | |
| nl | Syndroom van Woods-Black-Norbury | |
| pt | Doença imunoneurológica ligada ao X | Síndrome Woods-Black-Norbury |
| pl | Zaburzenie immunologiczno-neurologiczne sprzężone z chromosomem X | Zespół Woodsa, Blacka i Norbury |
| cs | X-vázaná imunoneurologická porucha | Woodsův-Blackův-Norburyho syndrom · Woods-Black-Norburyho syndrom |
| uk | Х-зчеплене імуноневрологічне захворювання | Синдром Вудса-Блека-Норбері |
| zh | X-连锁免疫神经紊乱 | Woods-Black-Norbury综合征 |
| tr | X'e bağlı immünonörolojik bozukluk | Woods-Black-Norbury sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 300076 | E | validated | |
| ICD-10 | D82.8 | NTBT | attributed | validated |
| ICD-11 | 4A01.0Y | NTBT | index | validated |
| MONDO | 0010243 | E | validated | |
| MeSH | C536743 | E | validated | |
| UMLS | C1848144 | E | validated | |
| GARD | 274 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:331232Immunodeficiency with isotype or light chain deficiencies with normal number of B-cells
rare genetic diseases; rare immunological diseases
No children.
4
Genes
0 directOrphanet records no gene directly on this code.
5
Prevalence and incidence
0 recordsNo prevalence record in this release.
6
HPO phenotypes
12 annotations · validated 2017-10-26| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0012638 | Abnormality of nervous system physiology | |
| HP:0008348 | Decreased circulating IgG2 level | |
| HP:0000009 | Functional abnormality of the bladder | |
| HP:0004374 | Hemiplegia/hemiparesis | |
| HP:0001347 | Hyperreflexia | |
| HP:0001276 | Hypertonia | |
| HP:0000662 | Nyctalopia | |
| HP:0000639 | Nystagmus | |
| HP:0002205 | Recurrent respiratory infections | |
| Occasional (29-5%) | ||
| HP:0002103 | Abnormality of the pleura | |
| HP:0000518 | Cataract | |
| HP:0003198 | Myopathy | |
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2571
- This record as JSON: /data/d/2571.json