Lipodystrophy, congenital generalized, type 2

Preferred Label : Lipodystrophy, congenital generalized, type 2;

Symbol : CGL2;

CISMeF acronym : CGL2;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Berardinelli-seip congenital lipodystrophy, type 2; Lipodystrophy, berardinelli-seip congenital, type 2; Seip syndrome; Lipoatrophic diabetes, congenital; Berardinelli syndrome; Lipodystrophy, total, and acromegaloid gigantism; Brunzell syndrome, bscl2-related;

Description : Congenital generalized lipodystrophy (CGL), also known as Berardinelli-Seip syndrome, is an autosomal recessive disorder characterized by marked paucity of adipose tissue, extreme insulin resistance, hypertriglyceridemia, hepatic steatosis and early onset of diabetes (Garg, 2004). For a general description and a discussion of genetic heterogeneity of congenital generalized lipodystrophy, see CGL1 (608594).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutations in the seipin gene (BSCL2, 606158.0001).;

Laboratory abnormalities : Hyperinsulinemia; Hypertriglyceridemia; Decreased serum leptin; Elevated liver enzymes;

Prefixed ID : #269700;

Details

Origin ID

269700;

UMLS CUI

C1720863;

Automatic exact mappings (from CISMeF team)
- Congenital lipoatrophic diabetes [MedDRA LLT]
- congenital generalized lipodystrophy type 2 [DO Concept]
Broader ORDO disease(s)
- Congenital generalized lipodystrophy [ORDO Disease]
Currated CISMeF NLP mapping
- congenital generalized lipodystrophy type 2 [MeSH concept]
DO Cross reference
- congenital generalized lipodystrophy type 2 [DO Concept]
Genes related to phenotype
- Bscl2 gene [OMIM gene]
HPO term(s)
- Acanthosis nigricans [HPO term]
- Accelerated skeletal maturation [HPO term]
- Acute pancreatitis [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cirrhosis [HPO term]
- Clitoral hypertrophy [HPO term]
- Congenital onset [HPO term]
- Cystic angiomatosis of bone [HPO term]
- Decreased fertility [HPO term]
- Decreased fertility in females [HPO term]
- Decreased serum leptin [HPO term]
- Elevated hepatic transaminase [HPO term]
- Generalized muscular appearance from birth [HPO term]
- Hepatic steatosis [HPO term]
- Hepatomegaly [HPO term]
- Heterogeneous [HPO term]
- High pitched voice [HPO term]
- Hirsutism [HPO term]
- Hyperinsulinemia [HPO term]
- Hypertriglyceridemia [HPO term]
- Hypertrophic cardiomyopathy [HPO term]
- Increased linear growth [HPO term]
- Insulin-resistant diabetes mellitus at puberty [HPO term]
- Intellectual disability, mild [HPO term]
- Labial hypertrophy [HPO term]
- Large hands [HPO term]
- Lipodystrophy [HPO term]
- Long foot [HPO term]
- Macrotia [HPO term]
- Mandibular prognathia [HPO term]
- Nephrolithiasis [HPO term]
- Polycystic ovaries [HPO term]
- Polyphagia [HPO term]
- Prominent umbilicus [HPO term]
- Reduced intraabdominal adipose tissue [HPO term]
- Reduced intrathoracic adipose tissue [HPO term]
- Reduced subcutaneous adipose tissue [HPO term]
- Splenomegaly [HPO term]
- Tall stature [HPO term]
- Triangular face [HPO term]
- Umbilical hernia [HPO term]
- Ventricular septal hypertrophy [HPO term]
ORDO concept(s)
- Congenital generalized lipodystrophy [ORDO Disease]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
UMLS correspondences (same concept)
- congenital generalized lipodystrophy type 2 [MeSH concept]
Validated automatic mappings to NTBT
- Congenital total lipodystrophy (disorder) [SNOMED CT concept]
- Familial generalized lipodystrophy (disorder) [Inactive SNOMED CT concept]
- lipodystrophy, congenital generalized [MeSH Descriptor]

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