AELIP

Asociación AELIP

Top of Page
Menu
Español English Deutsch Francaise

Clasificacion

Classification of Lipodystrophies 

___________________________________________________________________


LIPOHYPOTROPHIC SYNDROMES

Genetics

Generalised

Berardinelli-Seip syndrome 

type 1: (AGPAT2)

type 2: (BSCL2)

type 3: (CAV1)

type 4: (PTRF)

Unknown genes

Donohue syndrome or Leprechaunism (INSR)

  

Partial

Familial Partial Lipodystrophy

type 1 or Kóbberling disease: Unknown genes 

type 2 or Dunnigan disease: (LMNA)

type 3: (PPARG)

type 4: (PLIN1)

type 5: (CIDEC)

by mutation in AKT2

muscular dystrophy associated

 

Early ageing syndromes

Hutchinson-Gilford Progeria: (LMNA)

Mandibulo-acral dysplasia

type A: (LMNA)

type B: (ZMPSTE24)

Werner syndrome: (RECQL2)

Atypical Werner syndrome and Atypical Progeroid syndromes: (LMNA)

Néstor-Guillermo Progeria Syndrome: (BANF1)

Wiedemann-Rautenstrauch Syndrome (Neonatal Progeroid Syndrome)

MDPL syndrome: (POLD1)

Marfan syndrome with neonatal progeroid syndrome-like lipodystrophy (FBN1)

Progeroid Syndrome Congenital, Petty type

Mulvihill-Smith Syndrome (Progeroid Short Stature with Pigmented Nevi)

Cockayne syndrome (XP/ERCC3/ERCC8)

Restrictive Dermopathy (LMNA, ZMPSTE24) 

SHORT syndrome:(PIK3R1)

    

Auto-inflamatory syndromes (PSMB8)

Nakajo-Nishimura syndrome

JMP syndrome

CANDLE syndrome

 

Lipodystrophy-associated neurologic syndromes

ALOPECIA, NEUROLOGIC DEFECTS, AND ENDOCRINOPATHY SYNDROME (RBM28)

PANCREATIC AND CEREBELLAR AGENESIS  (PTF1A)

LIPODYSTROPHY, GENERALIZED, WITH MENTAL RETARDATION, DEAFNESS, SHORT STATURE, AND SLENDER BONES  

Partial lipodystrophy – cataract – neurodegeneration syndrome

PROGRESSIVE ENCEPHALOPATHY, WITH OR WITHOUT LIPODYSTROPHY (BSCL2)

KEPPEN-LUBINSKY SYNDROME

CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia (PMM2) 

CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Id (ALG3)

CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ig (ALG12)

CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIe (COG7)

NICOLAIDES-BARAITSER SYNDROME (SMARCA2)

 

Other syndromes

PARRY-ROMBERG SYNDROME

ACRORENAL FIELD DEFECT, ECTODERMAL DYSPLASIA, AND LIPOATROPHIC DIABETES (AREDYLD )

EHLERS-DANLOS SYNDROME, TYPE IV (COL3A1)

Deafness-lipodystrophy-bone cysts

Proteus Syndrome (AKT1)


Acquired

Generalised

Lawrence syndrome

Partial

Barraquer-Simons syndrome

HAART (AIDS) associated

Scleroderma associated

Local

Drug associated:

Glucocorticoids

Post-injection: insulin, somatostatin analogs, pegvisomant

Semicircularis lipodystrophy

Lipodystrophy fugax

Panniculitis-associated lipodystrophy


LIPOHYPERTROPHIC SYNDROMES

Dercum Disease (adiposa dolorosa)

Roch and Leri lipomatosis

Symetric Multiple Lipomatosis ( Launois-Bensaude syndrome)/ Madelung disease

 

___________________________________________________________________________


Este sitio web utiliza cookies para facilitar y mejorar la navegación. Si continúas navegando, consideramos que aceptas su uso. POLITICA DE COOKIES