Lipodystrophy, familial partial, type 2

Preferred Label : Lipodystrophy, familial partial, type 2;

Symbol : FPLD2;

CISMeF acronym : FPLD2; FPL2;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Lipoatrophic diabetes; FPL2; Lipodystrophy, familial, of limbs and lower trunk; Lipodystrophy, reverse partial; Lipodystrophy, familial partial, dunnigan type;

Description : Familial partial lipodystrophy is a metabolic disorder characterized by abnormal subcutaneous adipose tissue distribution beginning in late childhood or early adult life. Affected individuals gradually lose fat from the upper and lower extremities and the gluteal and truncal regions, resulting in a muscular appearance with prominent superficial veins. In some patients, adipose tissue accumulates on the face and neck, causing a double chin, fat neck, or cushingoid appearance. Metabolic abnormalities include insulin-resistant diabetes mellitus with acanthosis nigricans and hypertriglyceridemia; hirsutism and menstrual abnormalities occur infrequently. Familial partial lipodystrophy may also be referred to as lipoatrophic diabetes mellitus, but the essential feature is loss of subcutaneous fat (review by Garg, 2004). The disorder may be misdiagnosed as Cushing disease (see 219080) (Kobberling and Dunnigan, 1986; Garg, 2004). - Genetic Heterogeneity of Familial Partial Lipodystrophy Familial partial lipodystrophy is a clinically and genetically heterogeneous disorder. Types 1 and 2 were originally described as clinical subtypes: type 1 (FPLD1; 608600), characterized by loss of subcutaneous fat confined to the limbs (Kobberling et al., 1975), and;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the lamin A/C gene (LMNA, 150330.0003);

Laboratory abnormalities : Hyperglycemia; Hyperinsulinemia; Increased serum triglycerides; Decreased HDL cholesterol;

Prefixed ID : #151660;

Details

Origin ID

151660;

UMLS CUI

C1720860;

Automatic exact mappings (from CISMeF team)
- Berardinelli-Seip congenital lipodystrophy [ICD-11 More detail]
- LMNA wt Allele [NCIt concept]
- Lipoatrophic diabetes [PASCAL descriptor]
- diabetes mellitus, lipoatrophic [MeSH Descriptor]
- lipoatrophic diabetes mellitus [DO Concept]
- lipodystrophy, familial partial [MeSH Descriptor]
Currated CISMeF NLP mapping
- Familial Partial Lipodystrophy Type 2 [NCIt concept]
- Familial partial lipodystrophy type 2 (disorder) [SNOMED CT concept]
- Familial partial lipodystrophy, Dunnigan type [ICD-11 More detail]
- Familial partial lipodystrophy, Dunnigan type [ORDO Disease]
- familial partial lipodystrophy type 2 [DO Concept]
- familial partial lipodystrophy, type 2 [MeSH concept]
DO Cross reference
- familial partial lipodystrophy type 2 [DO Concept]
False automatic mappings
- Lipoatrophic diabetes [MedDRA LLT]
- Lipoatrophic diabetes (disorder) [SNOMED CT concept]
- Lipodystrophy (disorder) [SNOMED CT concept]
Genes related to phenotype
- Lamin a/C [OMIM gene]
HPO term(s)
- Acanthosis nigricans [HPO term]
- Acute pancreatitis [HPO term]
- Adipose tissue loss [HPO term]
- Atherosclerosis [HPO term]
- Autosomal dominant inheritance [HPO term]
- Childhood onset [HPO term]
- Decreased HDL cholesterol concentration [HPO term]
- Enlarged peripheral nerve [HPO term]
- Hepatic steatosis [HPO term]
- Hepatomegaly [HPO term]
- Hirsutism [HPO term]
- Hypercholesterolemia [HPO term]
- Hyperglycemia [HPO term]
- Hyperinsulinemia [HPO term]
- Hypertension [HPO term]
- Hypertriglyceridemia [HPO term]
- Increased adipose tissue around the neck [HPO term]
- Increased facial adipose tissue [HPO term]
- Increased intraabdominal fat [HPO term]
- Increased intramuscular fat [HPO term]
- Insulin-resistant diabetes mellitus [HPO term]
- Juvenile onset [HPO term]
- Labial pseudohypertrophy [HPO term]
- Lipodystrophy [HPO term]
- Loss of subcutaneous adipose tissue in limbs [HPO term]
- Loss of truncal subcutaneous adipose tissue [HPO term]
- Myalgia [HPO term]
- Polycystic ovaries [HPO term]
- Prominent superficial veins [HPO term]
- Reduced subcutaneous adipose tissue [HPO term]
- Round face [HPO term]
- Round, full face [HPO term]
- Skeletal muscle hypertrophy [HPO term]
- Type II diabetes mellitus [HPO term]
- Xanthomatosis [HPO term]
- Young adult onset [HPO term]
ORDO concept(s)
- Familial partial lipodystrophy, Dunnigan type [ORDO Disease]
See also inter- (CISMeF)
- Congenital generalized lipodystrophy [ORDO Disease]
- lipoatrophic diabetes mellitus [Disease (Nov.)]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Familial Partial Lipodystrophy Type 2 [NCIt concept]
- Familial partial lipodystrophy type 2 (disorder) [SNOMED CT concept]
- Familial partial lipodystrophy, Dunnigan type [ORDO Disease]
- familial partial lipodystrophy type 2 [DO Concept]
- familial partial lipodystrophy, type 2 [MeSH concept]

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