Lhermitte-Duclos disease
Synonyms: Dysplastic gangliocytoma of the cerebellum · LDD
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal dominant, Not applicable
- Age of onset
- Adult
- Status
- active
A rare developmental defect during embryogenesis characterized by abnormal development and enlargement of the cerebellum, and an increased intracranial pressure. The tumors can be characterized by the abnormal growth of ganglion cells that regulate activities in the cerebellum.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Lhermitte-Duclos disease | Dysplastic gangliocytoma of the cerebellum · LDD |
| fr | Maladie de Lhermitte-Duclos | Gangliocytome dysplasique du cervelet |
| de | Lhermitte-Duclos-Krankheit | Dysplastisches zerebelläres Gangliozytom · LDD |
| es | Enfermedad de Lhermitte-Duclos | ELD · Gangliocitoma displásico cerebeloso |
| it | Malattia di Lhermitte-Duclos | Gangliocitoma displastico del cervelletto · LDD |
| nl | Ziekte van Lhermitte-Duclos | Dysplastisch gangliocytoom van cerebellum · LDD |
| pt | Doença Lhermitte-Duclos | DLD · Ganglicitoma displásico do cerebelo |
| pl | Choroba Lhermitte'a i Duclosa | Dysplastyczny zwojak mózgu · LDD |
| cs | Lhermitte-Duclosova nemoc | LDD · Dysplastický gangliocytom mozečku |
| uk | Хвороба Лермітта-Дюкло | Диспластична гангліоцитома мозочка · LDD |
| zh | 小脑发育不良性节细胞瘤 | 小脑发育不良性节细胞瘤 |
| tr | Lhermitte-Duclos hastalığı | LDD · Serebellumun displastik gangliositom |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 158350 | NTBT | validated | |
| ICD-10 | Q04.8 | NTBT | attributed | validated |
| ICD-11 | 2A00.21 | NTBT | index | validated |
| MONDO | 0019002 | E | validated | |
| UMLS | C0391826 | E | validated | |
| GARD | 6901 | 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 (4):
- ORPHA:269567Genetic syndrome with a cerebellar malformation as a major feature
rare genetic diseases - ORPHA:251934Mixed neuronal-glial tumor
rare neurological diseases; rare neoplastic diseases - ORPHA:306498PTEN hamartoma tumor syndrome
rare developmental anomalies during embryogenesis; rare gastroenterological diseases; rare genetic diseases; rare skin diseases; rare neoplastic diseases; rare transplant-related disorders - ORPHA:269523Syndrome with a cerebellar malformation as a major feature
rare developmental anomalies during embryogenesis; rare neurological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| PTEN | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:9588 | ENSG00000171862 | 601728 | 10q23.31 | phosphatase and tensin homolog | 14566704[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 220 cases | Worldwide | Case(s) | Validated | 16459996[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | 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
18 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001251 | Ataxia | |
| HP:0006824 | Cranial nerve paralysis | |
| HP:0012081 | Enlarged cerebellum | |
| HP:0001161 | Hand polydactyly | |
| HP:0002315 | Headache | |
| HP:0000238 | Hydrocephalus | |
| HP:0002516 | Increased intracranial pressure | |
| HP:0000256 | Macrocephaly | |
| HP:0000158 | Macroglossia | |
| HP:0002017 | Nausea and vomiting | |
| HP:0200034 | Papule | |
| HP:0002126 | Polymicrogyria | |
| HP:0001250 | Seizure | |
| Frequent (79-30%) | ||
| HP:0200016 | Acrokeratosis | |
| HP:0010619 | Fibroadenoma of the breast | |
| HP:0100031 | Neoplasm of the thyroid gland | |
| HP:0100615 | Ovarian neoplasm | |
| HP:0012844 | Trichilemmoma | |
Run the differential on the 12 obligate / very frequent terms
Annotation source: 18781191[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/65285
- This record as JSON: /data/d/65285.json