Lipodystrophy, congenital generalized, type 1

Preferred Label : Lipodystrophy, congenital generalized, type 1;

Symbol : CGL1;

CISMeF acronym : BSCL1; CGL1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Lipodystrophy, berardinelli-seip congenital, type 1; BSCL1; Brunzell syndrome, agpat2-related; Berardinelli-seip congenital lipodystrophy, type 1;

Description : Congenital generalized lipodystrophy (CGL), or Berardinelli-Seip syndrome, is a rare autosomal recessive disease characterized by a near absence of adipose tissue from birth or early infancy and severe insulin resistance. Other clinical and biologic features include acanthosis nigricans, muscular hypertrophy, hepatomegaly, altered glucose tolerance or diabetes mellitus, and hypertriglyceridemia (Garg, 2004). - Genetic Heterogeneity of Congenital Generalized Lipodystrophy Congenital generalized lipodystrophy type 2 (269700) is caused by mutation in the BSCL2 gene (606158). Congenital generalized lipodystrophy type 3 (612526) is caused by mutation in the CAV1 gene (601047). Congenital generalized lipodystrophy type 4 (613327) is caused by mutation in the PTRF gene (603198).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutations in the 1-acylglycerol-3-phosphate O-acyltransferase 2 gene (AGPAT2, 603100.0001);

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

Prefixed ID : #608594;

Details

Origin ID

608594;

UMLS CUI

C1720862;

Automatic exact mappings (from CISMeF team)
- GZMB wt Allele [NCIt concept]
- Granzyme B Measurement [NCIt concept]
- congenital generalized lipodystrophy type 1 [DO Concept]
- granzyme B [HGNC gene]
Broader ORDO disease(s)
- Congenital generalized lipodystrophy [ORDO Disease]
Currated CISMeF NLP mapping
- congenital generalized lipodystrophy type 1 [MeSH concept]
DO Cross reference
- congenital generalized lipodystrophy type 1 [DO Concept]
Genes related to phenotype
- 1-acylglycerol-3-phosphate o-acyltransferase 2 [OMIM gene]
HPO term(s)
- Acanthosis nigricans [HPO term]
- Accelerated skeletal maturation [HPO term]
- Acute pancreatitis [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cardiomyopathy [HPO term]
- Cirrhosis [HPO term]
- Clitoral hypertrophy [HPO term]
- Cystic angiomatosis of bone [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]
- Hirsutism [HPO term]
- Hyperinsulinemia [HPO term]
- Hypertriglyceridemia [HPO term]
- Increased linear growth [HPO term]
- Insulin-resistant diabetes mellitus at puberty [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]
ORDO concept(s)
- Congenital generalized lipodystrophy [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- congenital generalized lipodystrophy type 1 [MeSH concept]
Validated automatic mappings to NTBT
- lipodystrophy, congenital generalized [MeSH Descriptor]

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