Table 1. Lipodystrophy subtypes (adapted from (2)) _________________________
1 Congenital
1.1 Generalized
Type 1 CGL (AGPAT2, recessive, OMIM #608594)
Type 2 CGL (BSCL2, recessive, OMIM #269700)
Type 3 CGL (CAV1, recessive, OMIM #612526)
Type 4 CGL (PTRF, recessive, OMIM #613327)
PPARG -associated CGL (recessive)
Progressive Encephalopathy with/without lipodystrophy (BSCL2, recessive, OMIM: #615924)
1.2 Partial
Type 1 FPLD (Köbberling syndrome; genes unknown, OMIM %608600)
Type 2 FPLD (Dunnigan disease; LMNA, (co-)dominant, OMIM #151660)
Type 3 FPLD (PPARG, dominant, OMIM #604367)
Type 4 FPLD (PLIN1, dominant, OMIM #613877)
Type 5 FPLD (CIDEC, recessive, OMIM #615238)
Type 6 FPLD (LIPE, recessive, OMIM #615980)
Type 7 FPLD with congenital cataracts, and neurodegeneration (CAV1, dominant, OMIM #606721)
AKT2-linked lipodystrophy (dominant)
MFN2 associated FPLD (recessive)
ADRA2A associated FPLD (dominant)
1.3 Systemic
1.3.1 Progeroid syndromes
Hutchinson-Gilford progeria syndrome (LMNA, dominant, OMIM #176670)
Néstor-Guillermo progeria syndrome (BANF1, recessive, OMIM #614008)
Atypical Werner syndrome and atypical progeroid syndrome (de novo, LMNA-associated)
Werner syndrome (RECQL2, recessive, OMIM #277700)
Type A mandibuloacral dysplasia (LMNA, recessive, OMIM #248370)
Type B mandibuloacral dysplasia (ZMPSTE24, recessive, OMIM #608612)
SHORT syndrome (PIK3R1, dominant, OMIM #269880)
MDPL syndrome (POLD1, dominant, OMIM #615381)
Keppen-Lubinsky syndrome (KCNJ6, dominant, OMIM #614098)
Ruijs-Aalfs syndrome (SPRTN, recessive, OMIM #616200)
Cockayne syndrome (ERCC6,recessive, OMIM #133540)
Cockayne syndrome (ERCC6, recessive, OMIM #216400)
Marfan syndrome with neonatal progeroid –like lipodystrophy (FBN1, dominant, OMIM #616914)
CAV1-associated neonatal onset lipodystrophy syndrome (dominant)
PCYT1A lipodystrophy (recessive)
Wiedemann Rautenstrauch syndrome (POLR3A, recessive, OMIM #264090)
Fontaine progeroid syndrome (SLC25A24, de novo, OMIM # 612289)
1.3.2 Autoinflammatory syndromes
PRAAS1 (PSMB8, recessive or digenic with PSMA3 or PSMB4, OMIM #256040)
PRAAS2 (POMP, dominant, OMIM #618048)
PRAAS3 (PSMB4, recessive or digenic with PSMB9, OMIM # 617591)
Panniculitis-associated lipodystrophy (OTULIN, recessive, OMIM #617099)
1.3.3 Others
Optic atrophy, cataracts, lipodystrophy/lipoatrophy, peripheral neuropathy (OPA3, dominant, OMIM #165300)
2 Acquired
2.1 Generalized
Acquired Generalized Lipodystrophy, idiopathic
Acquired Generalized Lipodystrophy, autoimmune
Acquired Generalized Lipodystrophy, panniculitis
2.2 Partial (excluding HIV associated lipodystrophy)
Acquired partial lipodystrophy (Barraquer-Simons syndrome)
Lipodystrophy associated with total body irradiation and hematopoietic stem cell transplant
2.3 Localized
___________________________________________________________________________________________
CGL: congenital generalized lipodystrophy, FPLD: familial partial lipodystrophy, PRAAS: Proteasome-associated auto-inflammatory syndrome; MDPL: mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome
Table 2. Analysed cases for LipoDDX® validation
Case
|
Diagnosis
|
Reference
|
#1
|
Type 2 Familial Partial Lipodystrophy
|
Own case
|
#2
|
Acquired Generalized Lipodystrophy
|
Own case
|
#3
|
Acquired Partial Lipodystrophy
|
Own case
|
#4
|
Type 6 Familial Partial Lipodystrophy
|
Ref.#6
|
#5
|
Keppen-Lubinsky syndrome
|
Ref.#10
|
#6
|
Type 3 Familial Partial Lipodystrophy
|
Ref.#11
|
#7
|
Lipodystrophy associated with hematopoietic stem cell transplant
|
Own case
|
#8
|
Progressive Encephalopathy with/without lipodystrophy
|
Own case
|
#9
|
Type 2 congenital generalized lipodystrophy
|
Own case
|
#10
|
Type 1 congenital generalized lipodystrophy
|
Own case
|
#11
|
Marfan syndrome with neonatal progeroid –like lipodystrophy
|
Ref.#12
|
#12
|
Type 6 Familial Partial Lipodystrophy
|
Ref.#6
|
#13
|
PRAAS1
|
Ref.#13
|
#14
|
SHORT syndrome
|
Own case
|
#15
|
MDPL syndrome
|
Ref.#14
|
#16
|
Thyrotoxicosis
|
Own case
|
#17
|
Werner syndrome
|
Own case
|
#18
|
Keppen-Lubinsky syndrome
|
Ref.#10
|
#19
|
Type 3 Familial Partial Lipodystrophy
|
Ref.#15
|
#20
|
Type 4 Familial Partial Lipodystrophy
|
Ref.#16
|
Table 2. Analysed cases for LipoDDX® validation (continuation)
Case
|
Diagnosis
|
Reference
|
#22
|
Anorexia nervosa
|
Ref.#18
|
#23
|
Localized lipodystrophy
|
Own case
|
#24
|
Cockayne syndrome
|
Ref.#19
|
#25
|
Type 5 Familial Partial Lipodystrophy
|
Ref.#20
|
#26
|
Acquired Generalized Lipodystrophy
|
Own case
|
#27
|
Type 2 Familial Partial Lipodystrophy
|
Own case
|
#28
|
MFN2 associated FPLD
|
Ref.#7
|
#29
|
Type 4 congenital generalized lipodystrophy
|
Ref.#21
|
#30
|
Néstor-Guillermo progeria syndrome
|
Ref.#22
|
#31
|
Acquired Partial Lipodystrophy
|
Own case
|
#32
|
Atypical progeroid syndrome
|
Own case
|
#33
|
Mental disorder
|
Own case
|
#34
|
Hutchinson-Gilford progeria syndrome
|
Own case
|
#35
|
Type 1 congenital generalized lipodystrophy
|
Own case
|
#36
|
ADRA2A associated FPLD
|
Ref.#5
|
#37
|
Fontaine progeroid syndrome
|
Ref.#23
|
#38
|
Type A mandibuloacral dysplasia
|
Ref.#24
|
#39
|
Wiedemann Rautenstrauch syndrome
|
Ref.#25
|
#40
|
Type 1 Familial Partial Lipodystrophy
|
Own case
|