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Familial partial lipodystrophy due to AKT2 mutations
1 associated gene
43 connected diseases
12 signs/symptoms
Disease Type of connection
Hypoinsulinemic hypoglycemia and body hemihypertrophy
Precursor T-cell acute lymphoblastic leukemia
Estrogen resistance syndrome
Early-onset autosomal dominant Alzheimer disease
Hereditary cerebral hemorrhage with amyloidosis, Arctic type
Hereditary cerebral hemorrhage with amyloidosis, Dutch type
Hereditary cerebral hemorrhage with amyloidosis, Flemish type
Hereditary cerebral hemorrhage with amyloidosis, Iowa type
Hereditary cerebral hemorrhage with amyloidosis, Italian type
Hereditary cerebral hemorrhage with amyloidosis, Piedmont type
Severe combined immunodeficiency due to DNA-PKcs deficiency
Pulverulent cataract
Cowden syndrome
Proteus syndrome
46,XX gonadal dysgenesis
Ovarian hyperstimulation syndrome
1p36 deletion syndrome
Achondrogenesis type 1A
Acute promyelocytic leukemia
Alpha-thalassemia - intellectual deficit syndrome linked to chromosome 16
Apolipoprotein A-I deficiency
Autosomal dominant methemoglobinemia
Autosomal dominant nonsyndromic sensorineural deafness type DFNA
Chorioretinopathy, Birdshot type
Dowling-Degos disease
Familial isolated dilated cardiomyopathy
Familial renal amyloidosis due to Apolipoprotein AI variant
Giant cell glioblastoma
Hb Bart's hydrops fetalis
Hemoglobin H disease
Homozygous familial hypercholesterolemia
Microphthalmia with limb anomalies
Monosomy 22q13
Primary systemic amyloidosis
Shprintzen-Goldberg syndrome
Solitary fibrous tumor
Young adult-onset Parkinsonism
X-linked lymphoproliferative disease
Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis
Tuberous sclerosis
(no synonyms)

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

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
External references:
No OMIM references
No MeSH references

Gene symbol UniProt reference OMIM reference
AKT2 P31751164731
Very frequent
- Abnormal fat distribution / lipodystrophy
- Autosomal dominant inheritance
- Chronic arterial hypertension
- Hyperlipidemia / hypercholesterolemia / hypertriglyceridemia
- Insulin resistance
- Insulin-dependent / type 1 diabetes

- Abnormal / polycystic ovaries
- Acanthosis nigricans
- Liver / hepatic steatosis

- Angor pectoris / myocardial infarction
- Arterial atheroma / precocious atherosclerosis / arteriosclerosis
- Heart / cardiac failure