ODCs

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Megalencephaly - polymicrogyria - postaxial polydactyly - hydrocephalus

1 OMIM reference -
2 associated genes
15 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 2

Lymphangioleiomyomatosis

1 OMIM reference -
2 associated genes
36 signs/symptoms

Megalencephaly - polymicrogyria - postaxial polydactyly - hydrocephalus

Lymphangioleiomyomatosis

AKT3	(UniProt - OMIM)		TSC1	(UniProt - OMIM)
PIK3R2	(UniProt - OMIM)		TSC2	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	AKT3	(0.55)	TSC2

Citations in the biomedical literature:

Megalencephaly - polymicrogyria - postaxial polydactyly - hydrocephalus		Lymphangioleiomyomatosis
	Synonym(s): - MPPH syndrome		Synonym(s): - LAM

	Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease - Rare neurologic disease		Classification (Orphanet): - Rare genetic disease - Rare respiratory disease

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Diseases of the respiratory system -

	Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: no data available Type of inheritance: sporadic		Epidemiological data: Class of prevalence: 1-9 / 1 000 000 Average age onset: adulthood Average age of death: - Type of inheritance: sporadic

	External references: 1 OMIM reference - No MeSH references		External references: 1 OMIM reference - 1 MeSH reference: D018192


COMMON SIGNS	- Hydrocephaly - Seizures / epilepsy / absences / spasms / status epilepticus

Megalencephaly - polymicrogyria - postaxial polydactyly - hydrocephalus		Lymphangioleiomyomatosis
	Very frequent - Agyria / micro / pachy / macrogyria / lissencephaly / gyration / neuronal migration defect - Macrocephaly / macrocrania / megalocephaly / megacephaly - Postaxial polydactyly (hand) Frequent - Cardiac septal defect - Depressed nasal bridge - Ectopic / horseshoe / fused kidneys - High forehead - Hypertelorism - Long / large / bulbous nose - Microstomia / little mouth - Mitral valve prolapse / incompetence / insufficiency / regurgitation / ring anomaly - Telecanthus / canthal dystopy - Ventricular septal defect / interventricular communication		Very frequent - Anomalies of the lymphatic system - Cough - Interstitial / restrictive pneumopathy / restrictive respiratory syndrome - Lung / pulmonary infiltrates - Respiratory distress / dyspnea / respiratory failure / lung volume reduction - Thoracic / chest pain Frequent - Acute abdominal pain / colic - Atelectasia / pulmonary collapse - Cutaneous neurofibromas / facial angiofibromas / Koenen tumors - Emphysema - Hematuria / microhematuria - Lymphadenopathy / polyadenopathies - Multicystic kidney / renal dysplasia - Ungual / paraungual fibromas (fingernails) - Uterine / uterus / Fallopian tubes anomalies Occasional - Abnormal colour of the urine / cholic / dark urines - Abnormal pigmentary skin changes / skin pigmentation anomalies - Abnormal pleura / hydrothorax / pleuresia / pleural effusion / chylothorax - Anomalies of eyelids, eyelashes and lacrimal system - Ascitis - Asthenia / fatigue / weakness - Fever / chilling - Gastrointestinal bleeding / hemorrhage / hematemesis / melena / rectorrhagia - Hemoptysis - Intellectual deficit / mental / psychomotor retardation / learning disability - Kidney / renal neoplasm / tumor / carcinoma / cancer - Lymphedema - Macules - Optic nerve anomaly / optic atrophy / anomaly of the papilla - Pericardium anomalies / pericarditis / absence / cysts / pericardial effusion - Polycystic kidneys - Repeat respiratory infections - Retinal hamartoma - Shagreen patch