Lipodystrophy, familial partial, type 1

Preferred Label : Lipodystrophy, familial partial, type 1;

Symbol : FPLD1;

CISMeF acronym : FPLD1;

Type : Phenotype or locus, molecular basis unknown;

Alternative titles and symbols : Lipodystrophy, familial partial, kobberling type;

Description : Familial partial lipodystrophy type 1 (FPLD1), or Kobberling-type lipodystrophy, is characterized by loss of adipose tissue confined to the extremities, with normal or increased distribution of fat on the face, neck, and trunk (Kobberling and Dunnigan, 1986). For a general description and a discussion of genetic heterogeneity of familial partial lipodystrophy (FPLD), see 151660.;

Inheritance : Autosomal dominant;

Laboratory abnormalities : Increased serum lipoproteins; Increased serum triglycerides; Increased serum total cholesterol; Hyperglycemia;

Prefixed ID : %608600;

Details

Origin ID

608600;

UMLS CUI

C1720859;

Automatic exact mappings (from CISMeF team)
- lipodystrophy, familial partial [MeSH Descriptor]
Currated CISMeF NLP mapping
- Familial partial lipodystrophy Kobberling type (disorder) [SNOMED CT concept]
- Familial partial lipodystrophy, Köbberling type [ICD-11 More detail]
- Familial partial lipodystrophy, Köbberling type [ORDO Disease]
- familial partial lipodystrophy type 1 [DO Concept]
- familial partial lipodystrophy, type 1 [MeSH concept]
DO Cross reference
- familial partial lipodystrophy type 1 [DO Concept]
HPO term(s)
- Abnormality of the musculature [HPO term]
- Acanthosis nigricans [HPO term]
- Acanthosis nigricans in patients with diabetes [HPO term]
- Acute pancreatitis [HPO term]
- Autosomal dominant inheritance [HPO term]
- Coronary artery atherosclerosis [HPO term]
- Hepatomegaly [HPO term]
- Hyperglycemia [HPO term]
- Hypertension [HPO term]
- Hypertriglyceridemia [HPO term]
- Increased adipose tissue around the neck [HPO term]
- Increased facial adipose tissue [HPO term]
- Increased subcutaneous truncal adipose tissue [HPO term]
- Insulin-resistant diabetes mellitus [HPO term]
- Juvenile onset [HPO term]
- Lipodystrophy [HPO term]
- Loss of gluteal subcutaneous adipose tissue [HPO term]
- Loss of subcutaneous adipose tissue in limbs [HPO term]
- Prominent superficial veins [HPO term]
- Xanthomatosis [HPO term]
ORDO concept(s)
- Familial partial lipodystrophy, Köbberling type [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Familial partial lipodystrophy Kobberling type (disorder) [SNOMED CT concept]
- Familial partial lipodystrophy, Köbberling type [ORDO Disease]
- familial partial lipodystrophy type 1 [DO Concept]
- familial partial lipodystrophy, type 1 [MeSH concept]

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