LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 3

General Information (adopted from Orphanet):

Synonyms, Signs: BERARDINELLI-SEIP CONGENITAL LIPODYSTROPHY, TYPE 3
LIPODYSTROPHY, BERARDINELLI-SEIP CONGENITAL, TYPE 3
CGL3
BSCL3
Number of Symptoms 15
OrphanetNr:
OMIM Id: 612526
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance:
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Comment:

Monogenic form of diabetes caused by mutations in CAV1 (PMID:21127150)

Symptom Information: Sort by abundance 

1
(HPO:0000819) Diabetes mellitus 131 / 7739
2
(HPO:0000831) Insulin-resistant diabetes mellitus 22 / 7739
3
(HPO:0001433) Hepatosplenomegaly 78 / 7739
4
(HPO:0001397) Hepatic steatosis 75 / 7739
5
(HPO:0004322) Short stature 1232 / 7739
6
(HPO:0001007) Hirsutism 91 / 7739
7
(HPO:0000998) Hypertrichosis 52 / 7739
8
(HPO:0004554) Generalized hypertrichosis 30 / 7739
9
(HPO:0000956) Acanthosis nigricans 54 / 7739
10
(HPO:0002230) Generalized hirsutism 32 / 7739
11
(HPO:0002901) Hypocalcemia 56 / 7739
12
(HPO:0000855) Insulin resistance 32 / 7739
13
(HPO:0003124) Hypercholesterolemia 53 / 7739
14
(HPO:0002155) Hypertriglyceridemia 67 / 7739
15
(HPO:0003758) Reduced subcutaneous adipose tissue 27 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Congenital generalized lipodystrophy, 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 ...

Clinical Description OMIM Kim et al. (2008) described a patient with Berardinelli-Seip congenital lipodystrophy caused by loss of function of the CAV1 gene. Detailed magnetic resonance imaging of the proband confirmed near total absence of both subcutaneous and visceral adipose tissue, ...
Molecular genetics OMIM In a patient with Berardinelli-Seip congenital lipodystrophy (BSCL) from a consanguineous Brazilian family, Kim et al. (2008) identified homozygosity for a premature termination mutation in exon 2 of the CAV1 gene (601047.0001). A sister of the proband, who ...