X-linked neurodegenerative syndrome, Bertini type
- Type
- Disease
- Group
- Disorder
- Inheritance
- X-linked recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
An X-linked syndromic intellectual disability characterized by congenital ataxia and generalized hypotonia, global developmental delay with intellectual disability, myoclonic encephalopathy, progressive neurological deterioration, macular degeneration, and recurrent bronchopulmonary infections.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | X-linked neurodegenerative syndrome, Bertini type | |
| fr | Syndrome neurodégénératif lié à l'X type Bertini | |
| de | Neurodegeneratives Syndrom, X-chromosomales, Typ Bertini | |
| es | Síndrome neurodegenerativo ligado al cromosoma X tipo Bertini | |
| it | Sindrome neurodegenerativa legata all'X tipo Bertini | |
| nl | X-gebonden neurodegeneratief syndroom, Bertini-type | |
| pt | Síndrome neurodegenerativa ligada ao X, tipo Bertini | |
| pl | Zespół neurozwyrodnieniowy typu Bertini sprzężony z chromosomem X | |
| cs | X-vázaný neurodegenerativní syndrom, Bertiniho typ | |
| uk | Х-зчеплений нейродегенеративний синдром, тип Бертіні | |
| zh | X连锁神经退行性病变综合征，Bertini型 | |
| tr | X'e bağlı nörodejeneratif sendrom, Bertini tipi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | G31.8 | NTBT | attributed | validated |
| ICD-11 | LD90 | NTBT | attributed | validated |
| MONDO | 0019427 | E | validated | |
| UMLS | C4305133 | 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 (3):
- ORPHA:183500Genetic neurodegenerative disease
rare genetic diseases - ORPHA:182070Rare neurodegenerative disease
rare neurological diseases - ORPHA:611314Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome
rare genetic diseases; rare neurological diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_1605224[PMID] |
| Cases/families | 7 cases | Worldwide | Case(s) | Validated | 1605224[PMID] |
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
10 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001274 | Agenesis of corpus callosum | |
| HP:0001251 | Ataxia | |
| HP:0001522 | Death in infancy | |
| HP:0200134 | Epileptic encephalopathy | |
| HP:0001290 | Generalized hypotonia | |
| HP:0002123 | Generalized myoclonic seizure | |
| HP:0001263 | Global developmental delay | |
| HP:0001249 | Intellectual disability | |
| HP:0000608 | Macular degeneration | |
| HP:0006538 | Recurrent bronchopulmonary infections | |
Run the differential on the 10 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/85334
- This record as JSON: /data/d/85334.json