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. 2019 Jun 4;10:342. doi: 10.3389/fendo.2019.00342

Table 1.

Genetic lipodystrophies listed according to their possible inheritance patterns.

Inherited mutations De novo mutations
Autosomal recessive Autosomal dominant

  • Congenital generalized lipodystrophy (Berardinelli–Seip syndrome; AGPAT2, BSCL2, CAV1, PTRF)

  • Mandibuloacral dysplasia (LMNA, ZMPSTE24)

  • Familial partial lipodystrophy (CIDEC, LIPE, WRN, PCYT1A)

  • Autoinflammatory lipodystrophy (JMP/CANDLE syndrome; PSMB8)

  • CGL-like phenotypes (PPARG, FOS)

  • Familial partial lipodystrophy (LMNA, PPARG, AKT2, PLIN1)

  • Hutchinson–Gilford progeria syndrome (LMNA)

  • Atypical progeroid syndrome (LMNA)

  • Neonatal progeroid syndrome (FBN1, CAV1, and others)

  • Mandibular hypoplasia, deafness, progeroid features (MDP) syndrome (POLD1)

  • SHORT syndrome associated with lipodystrophy (PIK3R1)

  • Keppen–Lubinsky syndrome associated with lipodystrophy (KCNJ6)

  • Hutchinson–Gilford progeria syndrome;

  • Atypical progeroid syndrome;

  • Mandibular hypoplasia, deafness and progeroid features syndrome.

CANDLE, chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature; CGL, congenital generalized lipodystrophy; JMP, joint contractures, muscle atrophy, microcytic anemia, and panniculitis-induced lipodystrophy; SHORT, short stature, hyperextensibility, hernia, ocular depression, Rieger anomaly, and teething delay.