LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1

General Information (adopted from Orphanet):

Synonyms, Signs: BRUNZELL SYNDROME, AGPAT2-RELATED
LIPODYSTROPHY, BERARDINELLI-SEIP CONGENITAL, TYPE 1
BERARDINELLI-SEIP CONGENITAL LIPODYSTROPHY, TYPE 1
CGL1
BSCL1
Number of Symptoms 39
OrphanetNr:
OMIM Id: 608594
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 AGPAT2 (PMID:21127150)

Symptom Information: Sort by abundance 

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

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) 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, ...
Clinical Description OMIM Congenital generalized lipodystrophy was originally described by Berardinelli (1954) and Seip (1959) as a disorder of metabolism, lipodystrophy, and endocrine abnormalities. Seip (1959) reported affected brother and sister, and suggested diencephalic origin. Lipodystrophic muscular hypertrophy (Senior, 1961) may ...
Molecular genetics OMIM In affected members of 11 pedigrees with autosomal recessive Berardinelli-Seip congenital lipodystrophy showing linkage to 9q34, Agarwal et al. (2002) identified 11 mutations in the AGPAT2 gene (see, e.g., 603100.0001-603100.0005). All affected members carried homozygous or compound heterozygous ...