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1 associated gene
12 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 2
2 OMIM references -
2 associated genes
44 signs/symptoms
Familial partial lipodystrophy due to AKT2 mutations
Tuberous sclerosis

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
Tuberous sclerosis
TSC1 TSC2



Familial partial lipodystrophy due to AKT2 mutations
Tuberous sclerosis

Synonym(s):
(no synonyms)

Synonym(s):
- Bourneville syndrome
- Tuberous sclerosis complex

Classification (Orphanet):
- Rare endocrine disease
- Rare genetic disease
- Rare skin disease
Classification (Orphanet):
- Rare circulatory system disease
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare genetic disease
- Rare neurologic disease
- Rare oncologic disease
- Rare renal disease
- Rare skin disease

Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
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: 1-9 / 100 000
Average age onset: childhood
Average age of death: -
Type of inheritance: autosomal dominant

External references:
No OMIM references
No MeSH references
External references:
2 OMIM references -
1 MeSH reference: D014402


COMMON
SIGNS
- Autosomal dominant inheritance
- Heart / cardiac failure


Familial partial lipodystrophy due to AKT2 mutations
Tuberous sclerosis

Very frequent
- Abnormal fat distribution / lipodystrophy
- 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


Very frequent
- Adenoma sebaceum
- Central nervous system / peripheral nerves neoplasm / tumor / carcinoma / cancer
- Cutaneous neurofibromas / facial angiofibromas / Koenen tumors
- EEG anomalies
- Follicular / erythematous / edematous papules / milium
- Pedunculated skin lesions
- Prominent occiput / occipital bossing

Frequent
- Cafe-au-lait spot
- Capillary hemangioma / nevus / naevus flammeus / port-wine stain
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Irregular / patchy skin hypopigmentation
- Macules
- Optic nerve anomaly / optic atrophy / anomaly of the papilla
- Psychic / behavioural troubles
- Retinal hamartoma
- Seizures / epilepsy / absences / spasms / status epilepticus
- Subcutaneous nodules / lipomas / tumefaction / swelling
- Ungual / paraungual fibromas (fingernails)
- Ungual / parungual fibromas (toenails)

Occasional
- Abnormal pleura / hydrothorax / pleuresia / pleural effusion / chylothorax
- Arterial aneurism (excluding aorta)
- Cardiac rhythm disorder / arrhythmia
- Coloboma of iris
- Corpus callosum / septum pellucidum total / partial agenesis
- Cranial hypertension
- Emphysema
- Enamel anomaly
- Gingivitis
- Heart / cardiac tumor
- Hypothyroidy
- Intracranial / cerebral calcifications
- Kidney / renal neoplasm / tumor / carcinoma / cancer
- Lymphangioma / lymphatic malformations
- Macrodactyly / fingers hypertrophy / megalodactyly (hand)
- Polycystic kidneys
- Precocious puberty
- Renal failure
- Respiratory distress / dyspnea / respiratory failure / lung volume reduction
- Structural anomalies of the liver and the biliary tract
- Structural anomalies of the pancreas
- Structural anomalies of the respiratory system and diaphragm
- Visceral angiomatosis (excluding skin)