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Craniopharyngioma
2 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Lhermitte-Duclos disease
1 OMIM reference -
1 associated gene
12 signs/symptoms
Craniopharyngioma
Lhermitte-Duclos disease

BRAF
(UniProt - OMIM)
 PTEN
(UniProt - OMIM)
CTNNB1
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
CTNNB1
(0.49)
PTEN


Citations in the biomedical literature:


Craniopharyngioma
BRAF CTNNB1
Lhermitte-Duclos disease
PTEN



Craniopharyngioma
Lhermitte-Duclos disease

Synonym(s):
(no synonyms)

Synonym(s):
- Dysplastic gangliocytoma of the cerebellum
- LDD
Classification (Orphanet):
- Rare endocrine disease
- Rare neurologic disease
- Rare oncologic disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare neurologic disease
- Rare oncologic disease
Classification (ICD10):
- Neoplasms -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Epidemiological data:
Class of prevalence: 1-9 / 100 000
Average age onset: variable
Average age of death: -
Type of inheritance: sporadic
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: adulthood
Average age of death: -
Type of inheritance: unknown
External references:
No OMIM references
1 MeSH reference: D003397
External references:
1 OMIM reference -
No MeSH references
Lhermitte-Duclos disease

Very frequent
- Agyria / micro / pachy / macrogyria / lissencephaly / gyration / neuronal migration defect
- Ataxia / incoordination / trouble of the equilibrium
- Cerebellum / cerebellar vermis anomaly / agenesis / hypoplasia
- Cranial nerves palsy
- Facial pain / cephalalgia / migraine
- Hydrocephaly
- Macrocephaly / macrocrania / megalocephaly / megacephaly
- Macroglossia / tongue protrusion / proeminent / hypertrophic
- Nausea / vomiting / regurgitation / merycism / hyperemesis
- Seizures / epilepsy / absences / spasms / status epilepticus
- Upper limb polydactyly / hexadactyly

Occasional
- Tall stature / gigantism / growth acceleration


Craniopharyngioma

(no data available)