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; Hoepffner-Dreyer-Reimers syndrome; peptide growth factors deficiency; peptidic growth factors deficiency; Werner-like syndrome due to combined growth factor deficiency
Congenital Generalized Lipodystrophy
Autozomálně recesivní
An extremely rare autosomal recessive condition, characterized by an extreme scarcity of fat in the subcutaneous tissues.
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; lipodystrophy, congenital generalized
Zahrnuje 5 příbuzných podtypů ↓Skrýt podtypy ↑
- 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
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; lipodystrophy, partial, acquired, susceptibility to; partial acquired lipodystrophy; progressive cephalothoracic lipodystrophy
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 ↓Skrýt podtypy ↑
- centrifugal lipodystrophy
- drug-induced localized lipodystrophy
- idiopathic localized lipodystrophy
- panniculitis and localized lipodystrophy
- pressure-induced localized lipoatrophy
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.
Známé také jako
Beradinelli-Seip syndrome; Berardinelli lipodystrophy syndrome; Berardinelli Seip syndrome; Brunzell syndrome; BSCL; congenital generalised lipodystrophy; GCL; generalised congenital lipodystrophy; generalized congenital lipodystrophy; Seip-Bernardinelli syndrome; total lipodystrophy
Zahrnuje 4 příbuzných podtypů ↓Skrýt podtypy ↑
- congenital generalized lipodystrophy type 1
- congenital generalized lipodystrophy type 2
- congenital generalized lipodystrophy type 3
- PPARG-associated congenital generalized lipodystrophy
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.
Známé také jako
congenital partial lipodystrophy; FPLD; genetic partial lipodystrophy; lipodystrophy, familial partial
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 ↓Skrýt podtypy ↑
- 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
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.
Známé také jako
MAD; mandibuloacral dysplasia with lipodystrophy
Zahrnuje 2 příbuzných podtypů ↓Skrýt podtypy ↑
- mandibuloacral dysplasia with type A lipodystrophy
- mandibuloacral dysplasia with type B lipodystrophy
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.
