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1 OMIM reference -
1 associated gene
12 signs/symptoms
PROTEIN INTERACTIONS: 1
1 OMIM reference -
2 associated genes
4 signs/symptoms
Lhermitte-Duclos disease
Persistent Müllerian duct syndrome

PTEN AMH
AMHR2


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
PTEN
(0.63)
AMHR2



Citations in the biomedical literature:


Lhermitte-Duclos disease
PTEN
Persistent Müllerian duct syndrome
AMH AMHR2



Lhermitte-Duclos disease
Persistent Müllerian duct syndrome

Synonym(s):
- Dysplastic gangliocytoma of the cerebellum
- LDD

Synonym(s):
- PMDS
- Persistent Müllerian derivatives

Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare neurologic disease
- Rare oncologic disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare endocrine disease
- Rare genetic disease
- Rare infertility
- Rare urogenital disease

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: adulthood
Average age of death: -
Type of inheritance: unknown
Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: normal
Type of inheritance: autosomal recessive

External references:
1 OMIM reference -
No MeSH references
External references:
1 OMIM reference -
1 MeSH reference: C536665

Lhermitte-Duclos disease
Persistent Müllerian duct syndrome

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


Very frequent
- Autosomal recessive inheritance
- Undescended / ectopic testes / cryptorchidia / unfixed testes

Frequent
- Inguinal / inguinoscrotal / crural hernia
- Male pseudohermaphrodism / lack of virilisation