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Zpráva o onemocnění · Metabolic

Lipodystrophy

A group of rare disorders characterized by the selective loss or abnormal accumulation of adipose (fat) tissue in specific areas of the body, often leading to metabolic complications such as insulin resistance, diabetes, and dyslipidemia.

Aktualizováno 16. října 2026

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Získat můj report Lipodystrophy

Všech 9 onemocnění, která analyzujeme

Lipodystrophy Due To Peptidic Growth Factors Deficiency

Deficiency of the peptidic growth factors is characterized by loss of subcutaneous fat layers on the limbs, lipodystrophy in the face and trunk and scleroderma-like skin disorders (thickened skin on the palms and soles and skin pigment changes on the limbs and trunk).

Známé také jako

combined insulin, insulin-like growth factor 1 (IGF1) and epidermal growth factor (EGF) deficiency; Hoepffner Dreyer Reimers syndrome; peptide growth factors deficiency; peptidic growth factors deficiency; Werner-like syndrome due to combined growth factor deficiency

MONDO:0009312OMIM 233805Orphanet 1979MedGen 419375

Congenital Generalized Lipodystrophy

Autozomálně recesivní

An extremely rare autosomal recessive condition, characterized by an extreme scarcity of fat in the subcutaneous tissues.

Analyzované geny

Známé také jako

congenital generalised lipodystrophy (disease); congenital generalized lipodystrophy (disease); familial generalised lipodystrophy; familial generalized lipodystrophy; hereditary generalised lipodystrophy; hereditary generalized lipodystrophy; lipodystrophy, congenital generalised

Zahrnuje 5 příbuzných podtypů ↓
  • congenital generalized lipodystrophy type 1
  • congenital generalized lipodystrophy type 2
  • congenital generalized lipodystrophy type 3
  • congenital generalized lipodystrophy type 4
  • lipodystrophy, congenital generalized, type 5
MONDO:0006536MedGen 67438

Acquired Partial Lipodystrophy

A lipodystrophy characterized by the association of lipoatrophy of the upper part of the body and lipohypertrophy of the thighs.

Známé také jako

APLD; Barraquer-Simons syndrome; lipodystophy partial progressive; lipodystrophy cephalothoracic type; lipodystrophy, partial, acquired, susceptibility to; progressive cephalothoracic lipodystrophy

MONDO:0012104Orphanet 79087MedGen 66352

Localized Lipodystrophy

Localised lipodystrophies are characterized by loss of subcutaneous tissue from small regions of the body.

Známé také jako

centrifugal lipodystrophy (subtype); drug-induced localised lipodystrophy (subtype); drug-induced localized lipodystrophy (subtype); focal lipodystrophy; idiopathic localised lipodystrophy (subtype); idiopathic localized lipodystrophy (subtype); panniculitis and localised lipodystrophy (subtype); panniculitis and localized lipodystrophy (subtype); pressure-induced localised lipoatrophy (subtype); pressure-induced localized lipoatrophy (subtype)

Zahrnuje 5 příbuzných podtypů ↓
  • centrifugal lipodystrophy
  • drug-induced localized lipodystrophy
  • idiopathic localized lipodystrophy
  • panniculitis and localized lipodystrophy
  • pressure-induced localized lipoatrophy
MONDO:0019194Orphanet 79088MedGen 1385527

Berardinelli-Seip Congenital Lipodystrophy

Autozomálně recesivní

A lipodystrophy characterized by the association of lipoatrophy, hypertriglyceridemia, hepatomegaly and acromegaloid features. BSCL belongs to the group of extreme insulin resistance syndromes, which also includes leprechaunism, Rabson-Mendenhall syndrome, acquired generalized lipodystrophy, and types A and B insulin resistance.

Analyzované geny

Známé také jako

Beradinelli-Seip syndrome; Berardinelli lipodystrophy syndrome; Berardinelli Seip syndrome; Brunzell syndrome; BSCL; congenital generalised lipodystrophy; GCL; generalized congenital lipodystrophy; Seip-Bernardinelli syndrome; total lipodystrophy

Zahrnuje 4 příbuzných podtypů ↓
  • congenital generalized lipodystrophy type 1
  • congenital generalized lipodystrophy type 2
  • congenital generalized lipodystrophy type 3
  • PPARG-associated congenital generalized lipodystrophy
MONDO:0018883Orphanet 528

Familial Partial Lipodystrophy

Includes the LMNA (Dunnigan), PPARG, PLIN1, LIPE, AKT2, CAV1 and PLAAT3 forms, which cause loss of fat from the limbs and buttocks with insulin resistance, diabetes, high triglycerides and fatty liver.

Co se diagnózou změní

Knowing allows early screening and treatment of diabetes, triglycerides and liver disease, and in selected cases metreleptin.

Analyzované geny

Známé také jako

congenital partial lipodystrophy; FPLD; genetic partial lipodystrophy

Zahrnuty jsou také specifické formy

  • Familial Partial Lipodystrophy, Dunnigan Type

    Autozomálně dominantní

    Familial Partial lipodystrophy, Dunnigan type (FPLD2) is a rare form of genetic lipodystrophy characterized by a loss of subcutaneous adipose tissue from the trunk, buttocks and limbs; fat accumulation in the neck, face, axillary and pelvic regions; muscular hypertrophy; and usually associated with metabolic complications such as insulin resistance, diabetes mellitus, dyslipidemia and liver steatosis.

    LMNA

Zahrnuje 11 příbuzných podtypů ↓
  • AKT2-related familial partial lipodystrophy
  • autosomal semi-dominant severe lipodystrophic laminopathy
  • CIDEC-related familial partial lipodystrophy
  • familial partial lipodystrophy, Dunnigan type
  • familial partial lipodystrophy, Kobberling type
  • LIPE-related familial partial lipodystrophy
  • lipodystrophy, familial partial, type 8
  • lipodystrophy, familial partial, type 9
  • partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome
  • PLIN1-related familial partial lipodystrophy
  • PPARG-related familial partial lipodystrophy
MONDO:0020088Orphanet 98306MedGen 124408

Mandibuloacral Dysplasia

Autozomálně recesivní

Caused by variants in LMNA (type A) or ZMPSTE24 (type B), which cause underdevelopment of the jaw and collarbones, skin changes, fat loss and metabolic complications such as insulin resistance.

Co se diagnózou změní

Knowing guides monitoring for diabetes, lipid and other complications.

Analyzované geny

Známé také jako

MAD; mandibuloacral dysplasia with lipodystrophy

Zahrnuje 2 příbuzných podtypů ↓
  • mandibuloacral dysplasia with type A lipodystrophy
  • mandibuloacral dysplasia with type B lipodystrophy
MONDO:0016584Orphanet 2457MedGen 98485

Multiple symmetric lipomatosis with partial lipodystrophy (MFN2)

Autozomálně recesivní

Large fatty deposits on the neck and upper body with loss of fat elsewhere, caused by biallelic MFN2 variants.

Analyzované geny

MONDO:1060153

Další metabolic conditions

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Získat můj report Lipodystrophy

Doprava zdarma · Výsledky za 6–8 týdnů