General Information of Disease (ID: DISS4DRQ)

Disease Name AKT2-related familial partial lipodystrophy
Synonyms familial partial lipodystrophy due to AKT2 mutations; AKT2-related FPLD
Disease Hierarchy
DISFVL9J: Familial partial lipodystrophy
DISS4DRQ: AKT2-related familial partial lipodystrophy
Disease Identifiers
MONDO ID
MONDO_0019192
UMLS CUI
C5680134
MedGen ID
1810936
Orphanet ID
79085
SNOMED CT ID
1197746001

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
AKT2 TTH24WI Supportive Autosomal dominant [1]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
AKT2 OTBB632K Supportive Autosomal dominant [1]
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References

1 Genetic basis of lipodystrophies and management of metabolic complications. Annu Rev Med. 2006;57:297-311. doi: 10.1146/annurev.med.57.022605.114424.