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Lymphangioleiomyomatosis

1 OMIM reference -
2 associated genes
36 signs/symptoms

PROTEIN INTERACTIONS: 1

Familial partial lipodystrophy due to AKT2 mutations

1 associated gene
12 signs/symptoms

Lymphangioleiomyomatosis

Familial partial lipodystrophy due to AKT2 mutations

TSC1	(UniProt - OMIM)		AKT2	(UniProt - OMIM)
TSC2	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	TSC2	(0.52)	AKT2

Citations in the biomedical literature:

Lymphangioleiomyomatosis		Familial partial lipodystrophy due to AKT2 mutations
	Synonym(s): - LAM		Synonym(s): (no synonyms)

	Classification (Orphanet): - Rare genetic disease - Rare respiratory disease		Classification (Orphanet): - Rare endocrine disease - Rare genetic disease - Rare skin disease

	Classification (ICD10): - Diseases of the respiratory system -		Classification (ICD10): - Endocrine, nutritional and metabolic diseases -

	Epidemiological data: Class of prevalence: 1-9 / 1 000 000 Average age onset: adulthood 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: 1 OMIM reference - 1 MeSH reference: D018192		External references: No OMIM references No MeSH references

Lymphangioleiomyomatosis		Familial partial lipodystrophy due to AKT2 mutations
	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 - Hydrocephaly - 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 - Seizures / epilepsy / absences / spasms / status epilepticus - Shagreen patch		Very frequent - Abnormal fat distribution / lipodystrophy - Autosomal dominant inheritance - Chronic arterial hypertension - Hyperlipidemia / hypercholesterolemia / hypertriglyceridemia - Insulin resistance - Insulin-dependent / type 1 diabetes Frequent - Abnormal / polycystic ovaries - Acanthosis nigricans - Liver / hepatic steatosis Occasional - Angor pectoris / myocardial infarction - Arterial atheroma / precocious atherosclerosis / arteriosclerosis - Heart / cardiac failure