Lipodystrophy, Congenital Generalized, Type 1; Cgl1

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 LipodystrophyCongenital generalized lipodystrophy type 2 (OMIM ) is caused by mutation in the BSCL2 gene (OMIM ). Congenital generalized lipodystrophy type 3 (OMIM ) is caused by mutation in the CAV1 gene (OMIM ). Congenital generalized lipodystrophy type 4 (OMIM ) is caused by mutation in the PTRF gene (OMIM ).

Clinical Features

Top most frequent phenotypes and symptoms related to Lipodystrophy, Congenital Generalized, Type 1; Cgl1

  • Intellectual disability
  • Cognitive impairment
  • Hypertension
  • Peripheral neuropathy
  • Hepatomegaly
  • Cardiomyopathy
  • Congestive heart failure
  • Intellectual disability, mild
  • Splenomegaly
  • Dilatation

And another 53 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
No data available about the known clinical features onset.

Alternative names

Lipodystrophy, Congenital Generalized, Type 1; Cgl1 Is also known as berardinelli-seip congenital lipodystrophy, type 1, lipodystrophy, berardinelli-seip congenital, type 1, brunzell syndrome, agpat2-related, bscl1.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.


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Lipodystrophy, Congenital Generalized, Type 1; Cgl1 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Congenital Generalized Lipodystrophy Deletion/Duplication Panel.

By Genetic Services Laboratory University of Chicago (United States).

CAV1, BSCL2, AGPAT2, FBN1, KCNJ6, CAVIN1
Specificity
17 %
Genes
100 %
Comprehensive Lipodystrophy Deletion/Duplication Panel.

By Genetic Services Laboratory University of Chicago (United States).

ZMPSTE24, CAV1, BSCL2, TBC1D4, CIDEC, ADRA2A, AGPAT2, FBN1, AKT2, KCNJ6, LIPE, LMNA, LMNB2, PIK3R1, PLIN1, POLD1, PPARG, PSMB8, CAVIN1
Specificity
6 %
Genes
100 %
Comprehensive Lipodystrophy Panel.

By Genetic Services Laboratory University of Chicago (United States).

ZMPSTE24, CAV1, BSCL2, TBC1D4, CIDEC, ADRA2A, AGPAT2, FBN1, AKT2, KCNJ6, LIPE, LMNA, LMNB2, PIK3R1, PLIN1, POLD1, PPARG, PSMB8, CAVIN1
Specificity
6 %
Genes
100 %
Congenital Generalized Lipodystrophy Panel.

By Genetic Services Laboratory University of Chicago (United States).

CAV1, BSCL2, AGPAT2, FBN1, KCNJ6, CAVIN1
Specificity
17 %
Genes
100 %
AGPAT2. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain).

AGPAT2
Specificity
100 %
Genes
100 %
AGPAT2. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain).

AGPAT2
Specificity
100 %
Genes
100 %
Congenital lipodystrophy type 1 (sequence analysis of AGPAT2 gene).

By CGC Genetics (Portugal).

AGPAT2
Specificity
100 %
Genes
100 %
Lipodystrophies (NGS panel for 17 genes).

By CGC Genetics (Portugal).

ZMPSTE24, CAV1, BSCL2, TBC1D4, CIDEC, AGPAT2, FBN1, AKT2, LIPE, LMNA, LMNB2, PCYT1A, PIK3R1, PLIN1, PPARG, PSMB8, CAVIN1
Specificity
6 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

OMIM Genetic Syndrome Finder

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