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1 associated gene
12 signs/symptoms
PROTEIN INTERACTIONS: 1
1 OMIM reference -
2 associated genes
36 signs/symptoms
Familial partial lipodystrophy due to AKT2 mutations
Lymphangioleiomyomatosis

AKT2 TSC1
TSC2


INTERACTOME
ASSOCIATIONS

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



Citations in the biomedical literature:


Familial partial lipodystrophy due to AKT2 mutations
AKT2
Lymphangioleiomyomatosis
TSC1 TSC2



Familial partial lipodystrophy due to AKT2 mutations
Lymphangioleiomyomatosis

Synonym(s):
(no synonyms)

Synonym(s):
- LAM

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

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

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: 1-9 / 1 000 000
Average age onset: adulthood
Average age of death: -
Type of inheritance: sporadic

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

Familial partial lipodystrophy due to AKT2 mutations
Lymphangioleiomyomatosis

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


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