ODCs

Click node...

1 OMIM reference -
1 associated gene
12 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1

2 OMIM references -
1 associated gene
14 signs/symptoms

Lhermitte-Duclos disease

Complete androgen insensitivity syndrome


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	PTEN	(0.79)	AR

Citations in the biomedical literature:

Lhermitte-Duclos disease		Complete androgen insensitivity syndrome
	Synonym(s): - Dysplastic gangliocytoma of the cerebellum - LDD		Synonym(s): - CAIS - Complete androgen resistance syndrome

	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 gynecologic or obstetric disease - Rare infertility - Rare urogenital disease

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Endocrine, nutritional and metabolic diseases -

	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: variable Average age of death: normal Type of inheritance: x-linked recessive

	External references: 1 OMIM reference - No MeSH references		External references: 2 OMIM references - No MeSH references


COMMON SIGNS	- Tall stature / gigantism / growth acceleration

Lhermitte-Duclos disease		Complete androgen insensitivity 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		Very frequent - Decreased body hair / axillar / pubic hairlessness - Male pseudohermaphrodism / lack of virilisation - Primary amenorrhea - Sterility / hypofertility - Undescended / ectopic testes / cryptorchidia / unfixed testes - Uterine / uterus / Fallopian tubes anomalies Frequent - Inguinal / inguinoscrotal / crural hernia - Osteoporosis / osteopenia / demineralisation / osteomalacia / rickets Occasional - Contractures / cramps / trismus / tetania / claudication / opisthotonos - Gynecomastia / breast / mammary gland enlargement / hyperplasia - Sensitive trouble / deficit - Testicular / seminal neoplasm / tumor / carcinoma / cancer (excl. teratoma / germinoma) - Tremor