Berardinelli-Seip Congenital Lipodystrophy

Preferred Label : Berardinelli-Seip Congenital Lipodystrophy;

NCIt synonyms : Congenital Generalized Lipodystrophy;

NCIt related terms : Berardinelli Lipodystrophy Syndrome; Total Lipodystrophy; Berardinelli Seip Syndrome; Seip-Bernardinelli Syndrome; Lawrence-Seip Syndrome;

NCIt definition : A genetic disorder caused by mutations in the AGPAT2 and BSCL2 genes. It is characterized by lipoatrophy in the trunk, face, and extremities, hypertriglyceridemia, muscle hypertrophy, cardiomyopathy and hepatomegaly. Patients develop insulin resistance, leading to diabetes mellitus.;

Alternative definition : NICHD: An autosomal recessive condition associated with mutation(s) in multiple genes: the CAV1 gene (encoding caveolin-1); the AGPAT2 gene (encoding 1-acyl-sn-glycerol-3-phosphate acyltransferase beta); the BSCL2 gene (encoding seipin); or the PTRF gene (encoding polymerase I and transcript release factor). Clinical manifestations include lipoatrophy affecting the trunk, limbs, and face; acromegaloid features; hepatomegaly secondary to hepatic steatosis; skeletal muscle hypertrophy; hypertrophic cardiomyopathy; hypertriglyceridemia; severe insulin resistance; and impaired glucose tolerance or diabetes.;

Details

Origin ID

C84594;

UMLS CUI

C0221032;

Automatic exact mappings (from CISMeF team)
- Acquired generalized lipodystrophy [ORDO Disease]
- Berardinelli-Seip congenital lipodystrophy [ICD-11 More detail]
- Lawrence-Seip syndrome [PASCAL descriptor]
- Lawrence-Seip syndrome [MedDRA LLT]
- Total lipodystrophy [MedDRA LLT]
Currated CISMeF NLP mapping
- Berardinelli-Seip syndrome [MedDRA LLT]
- Congenital generalised lipodystrophy [ICD-11 Sub-sub category]
- Congenital generalised lipodystrophy [MedDRA Preferred Term]
- Congenital generalized lipodystrophy [HPO term]
- Congenital generalized lipodystrophy [ORDO Disease]
- Congenital generalized lipodystrophy [MedDRA LLT]
- Congenital total lipodystrophy (disorder) [SNOMED CT concept]
- Familial generalized lipodystrophy (disorder) [Inactive SNOMED CT concept]
- Lipodystrophy, congenital generalized [OMIM phenotypic series]
- congenital generalized lipodystrophy [DO Concept]
- congenital generalized lipodystrophy [Disease (Nov.)]
- familial generalized lipodystrophy [SNOMED Notion]
- lipodystrophy, congenital generalized [MeSH Descriptor]
- lipodystrophy, congenital generalized [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Berardinelli-Seip syndrome [MedDRA LLT]
- Congenital generalised lipodystrophy [MedDRA Preferred Term]
- Congenital generalised lipodystrophy [ICD-11 Sub-sub category]
- Congenital generalized lipodystrophy [MedDRA LLT]
- Congenital generalized lipodystrophy [HPO term]
- Congenital generalized lipodystrophy [ORDO Disease]
- Congenital lipoatrophic diabetes [MedDRA LLT]
- Congenital lipodystrophy [MedDRA LLT]
- Congenital total lipoatrophy (disorder) [Inactive SNOMED CT concept]
- Congenital total lipodystrophy (disorder) [SNOMED CT concept]
- Familial generalized lipodystrophy (disorder) [Inactive SNOMED CT concept]
- Generalized lipodystrophy [HPO term]
- Lawrence-Seip syndrome [MedDRA LLT]
- Lipodystrophy congenital [MedDRA LLT]
- Total lipodystrophy [MedDRA LLT]
- congenital generalized lipodystrophy [DO Concept]
- congenital generalized lipodystrophy [Disease (Nov.)]
- congenital lipodystrophy [Disease (Nov.)]
- familial generalized lipodystrophy [SNOMED Notion]
- lipodystrophy, congenital generalized [MeSH concept]
- lipodystrophy, congenital generalized [MeSH Descriptor]
concept_is_in_subset
- NICHD Terminology [NCIt concept]
- Pediatric Endocrinology Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]

Keyword's position in hierarchy(ies) :

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