X-linked neurodegenerative syndrome, Hamel type
- Type
- Disease
- Group
- Disorder
- Inheritance
- X-linked recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
An X-linked syndromic intellectual disability characterized by a few months of normal development, followed by progressive neurodegenerative course with gradual loss of vision, development of spastic tetraplegia, convulsions, microcephaly, failure to thrive, and early death.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | X-linked neurodegenerative syndrome, Hamel type | |
| fr | Syndrome neurodégénératif lié à l'X type Hamel | |
| de | Neurodegeneratives Syndrom, X-chromosomales, Typ Hamel | |
| es | Síndrome neurodegenerativo ligado al cromosoma X tipo Hamel | |
| it | Sindrome neurodegenerativa legata all'X tipo Hamel | |
| nl | X-gebonden neurodegeneratief syndroom, Hamel-type | |
| pt | Síndrome neurodegenerativa ligada ao X, tipo Hamel | |
| pl | Zespół neurozwyrodnieniowy typu Hamela sprzężony z chromosomem X | |
| cs | X-vázaný neurodegenerativní syndrom, Hamelův typ | |
| uk | Х-зчеплений нейродегенеративний синдром, тип Гамеля | |
| zh | X连锁神经退行性病变综合征，Hamel型 | |
| tr | X'e bağlı nörodejeneratif sendrom, Hamel tipi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | G31.8 | NTBT | attributed | validated |
| ICD-11 | 8A2Y | NTBT | attributed | validated |
| MONDO | 0019429 | E | validated | |
| UMLS | C4305135 | 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 |
|---|---|---|---|---|---|---|
| Cases/families | 11 cases | Worldwide | Case(s) | Validated | 10051014[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_10051014[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
6 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000618 | Blindness | |
| HP:0001522 | Death in infancy | |
| HP:0001263 | Global developmental delay | |
| HP:0010864 | Intellectual disability, severe | |
| HP:0001250 | Seizure | |
| HP:0001257 | Spasticity | |
Run the differential on the 6 obligate / very frequent terms
Annotation source: 10051014[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/85336
- This record as JSON: /data/d/85336.json