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AKT2-related familial partial lipodystrophy

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Name:
AKT2-related familial partial lipodystrophy
Description:
A rare familial partial lipodystrophy characterized by adult onset of distal lipoatrophy and severe insulin resistance in the liver and peripheral tissues, hyperinsulinemia, and diabetes mellitus. Acanthosis nigricans and hypertension have been reported in association.
ORPHAcode:
79085
Synonyms:
AKT2-related FPLD
XREF(s):
Orphanet
ICD-10
Analyte(s):
AKT2
Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14