LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 2

General Information (adopted from Orphanet):

Synonyms, Signs: LIPOATROPHIC DIABETES, CONGENITAL
BERARDINELLI SYNDROME
BRUNZELL SYNDROME, BSCL2-RELATED
LIPODYSTROPHY, TOTAL, AND ACROMEGALOID GIGANTISM
LIPODYSTROPHY, BERARDINELLI-SEIP CONGENITAL, TYPE 2
SEIP SYNDROME
BERARDINELLI-SEIP CONGENITAL LIPODYSTROPHY, TYPE 2
CGL2
Number of Symptoms 42
OrphanetNr:
OMIM Id: 269700
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance:
Age of onset: Congenital onset
[Omim]

Disease classification (adopted from Orphanet):

Parent Diseases: AARSKOG SYNDROME, AUTOSOMAL DOMINANT
 -AARSKOG SYNDROME, AUTOSOMAL DOMINANT

Comment:

Monogenic form of diabetes caused by mutations in BSCL2 (PMID:21127150)

Symptom Information: Sort by abundance 

1
 (HPO:0000057) Clitoromegaly 30 / 7739
2
 (HPO:0000147) Polycystic ovaries 18 / 7739
3
 (HPO:0000138) Ovarian cyst 25 / 7739
4
 (HPO:0000144) Decreased fertility 11 / 7739
5
 (HPO:0008675) Enlarged polycystic ovaries 14 / 7739
6
 (HPO:0000065) Labial hypertrophy 4 / 7739
7
 (HPO:0000868) Decreased fertility in females 3 / 7739
8
 (HPO:0000303) Mandibular prognathia 179 / 7739
9
 (HPO:0001256) Intellectual disability, mild 141 / 7739
10
 (HPO:0002591) Polyphagia 25 / 7739
11
 (HPO:0000877) Insulin-resistant diabetes mellitus at puberty 2 / 7739
12
 (HPO:0000842) Hyperinsulinemia 39 / 7739
13
 (HPO:0003292) Decreased serum leptin 3 / 7739
14
 (HPO:0002833) Cystic angiomatosis of bone 3 / 7739
15
 (HPO:0001169) Broad palm 43 / 7739
16
 (HPO:0001769) Broad foot 31 / 7739
17
 (HPO:0004233) Advanced ossification of carpal bones 14 / 7739
18
 (HPO:0001176) Large hands 43 / 7739
19
 (HPO:0001230) Broad metacarpals 17 / 7739
20
 (HPO:0001833) Long foot 33 / 7739
21
 (HPO:0005616) Accelerated skeletal maturation 46 / 7739
22
 (HPO:0001744) Splenomegaly 337 / 7739
23
 (HPO:0001544) Prominent umbilicus 4 / 7739
24
 (HPO:0001394) Cirrhosis 102 / 7739
25
 (HPO:0001735) Acute pancreatitis 6 / 7739
26
 (HPO:0002240) Hepatomegaly 467 / 7739
27
 (HPO:0001397) Hepatic steatosis 75 / 7739
28
 (HPO:0001537) Umbilical hernia 206 / 7739
29
 (HPO:0000098) Tall stature 74 / 7739
30
 (HPO:0002230) Generalized hirsutism 32 / 7739
31
 (HPO:0004554) Generalized hypertrichosis 30 / 7739
32
 (HPO:0000956) Acanthosis nigricans 54 / 7739
33
 (HPO:0000998) Hypertrichosis 52 / 7739
34
 (HPO:0001007) Hirsutism 91 / 7739
35
 (HPO:0001639) Hypertrophic cardiomyopathy 137 / 7739
36
 (HPO:0002155) Hypertriglyceridemia 67 / 7739
37
 (HPO:0003716) Generalized muscular appearance from birth 2 / 7739
38
 (HPO:0009125) Lipodystrophy 54 / 7739
39
 (HPO:0009064) Generalized lipodystrophy 17 / 7739
40
 (HPO:0003809) Nearly complete absence of metabolically active adipose tissue (subcutaneous, intraabdominal, intrathoracic) 2 / 7739
41
 (OMIM) Large feet 12 / 7739
42
 (OMIM) Nearly complete absence of mechanical adipose tissue (joints, orbits, palms, soles) 1 / 7739

Associated genes:

BSCL2

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) 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 ...
Clinical Description OMIM Van Maldergem et al. (2002) studied 70 affected individuals from 44 unrelated families with congenital generalized lipodystrophy. Forty-five patients from 24 families had BSCL2 and 21 patients from 17 families had BSCL1 (608594). Two European families had no BSCL2 ...
Molecular genetics OMIM In chromosome 11q13-linked families with congenital generalized lipodystrophy type 2, and in 3 isolated patients, Magre et al. (2001) identified mutations in the BSCL2 gene (606158.0001-606158.0012). Affected individuals were either homozygous for a specific mutation or compound heterozygous; all ...
Population genetics OMIM Gedde-Dahl et al. (1996) stated that 5 of the 6 families studied by Seip and Trygstad (1996) came from adjacent rural 'municipalities' of southwestern Norway. Six patients from this area were born between 1951 and 1973, and none between ...