MCID: LPD033
MIFTS: 31

Lipodystrophy, Congenital Generalized, Type 2

Categories: Genetic diseases, Rare diseases, Muscle diseases, Skin diseases, Endocrine diseases

Aliases & Classifications for Lipodystrophy, Congenital Generalized, Type 2

MalaCards integrated aliases for Lipodystrophy, Congenital Generalized, Type 2:

Name: Lipodystrophy, Congenital Generalized, Type 2 57 13 40
Congenital Generalized Lipodystrophy Type 2 12 53 29 6 73
Total Lipodystrophy and Acromegaloid Gigantism 12 53 75
Cgl2 57 12 75
Berardinelli-Seip Congenital Lipodystrophy Type 2 12 75
Brunzell Syndrome Bscl2-Related 12 75
Berardinelli-Seip Syndrome 12 75
Berardinelli Syndrome 57 53
Lipodystrophy, Berardinelli-Seip Congenital, Type 2 57
Berardinelli-Seip Congenital Lipodystrophy, Type 2 57
Berardinelli Seip Congenital Lipodystrophy Type 2 53
Lipodystrophy, Total, and Acromegaloid Gigantism 57
Congenital Generalized Lipodystrophy 2 75
Familial Partial Lipodystrophy, Type 2 73
Familial Generalized Lipodystrophy 73
Lipoatrophic Diabetes, Congenital 57
Brunzell Syndrome, Bscl2-Related 57
Congenital Lipoatrophic Diabetes 12
Bscl2-Related Brunzell Syndrome 53
Lipodystrophy Berardinelli Type 75
Lipoatrophic Diabetes Mellitus 73
Lipoatrophic Diabetes 75
Seip Syndrome 57

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset at birth or early infancy


HPO:

32
lipodystrophy, congenital generalized, type 2:
Onset and clinical course congenital onset
Inheritance heterogeneous autosomal recessive inheritance


Classifications:



Summaries for Lipodystrophy, Congenital Generalized, Type 2

OMIM : 57 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 description and a discussion of genetic heterogeneity of congenital generalized lipodystrophy, see CGL1 (608594). (269700)

MalaCards based summary : Lipodystrophy, Congenital Generalized, Type 2, also known as congenital generalized lipodystrophy type 2, is related to congenital generalized lipodystrophy and acquired generalized lipodystrophy, and has symptoms including myalgia An important gene associated with Lipodystrophy, Congenital Generalized, Type 2 is BSCL2 (BSCL2, Seipin Lipid Droplet Biogenesis Associated). Affiliated tissues include bone, ovary and liver, and related phenotypes are labial hypertrophy and tall stature

Disease Ontology : 12 A congenital generalized lipodystrophy that has material basis in an autosomal recessive mutation of BSCL2 on chromosome 11q12.3.

UniProtKB/Swiss-Prot : 75 Congenital generalized lipodystrophy 2: An autosomal recessive disorder characterized by a near complete absence of adipose tissue, extreme insulin resistance, hypertriglyceridemia, hepatic steatosis and early onset of diabetes.

Related Diseases for Lipodystrophy, Congenital Generalized, Type 2

Diseases in the Acquired Generalized Lipodystrophy family:

Lipodystrophy, Congenital Generalized, Type 2 Lipodystrophy, Congenital Generalized, Type 1
Lipodystrophy, Congenital Generalized, Type 3 Lipodystrophy, Congenital Generalized, Type 4
Congenital Generalized Lipodystrophy

Diseases related to Lipodystrophy, Congenital Generalized, Type 2 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 congenital generalized lipodystrophy 11.8
2 acquired generalized lipodystrophy 11.6
3 lipodystrophy, congenital generalized, type 1 11.5
4 lipodystrophy, congenital generalized, type 3 10.9
5 lipodystrophy, familial partial, type 2 10.2
6 diabetes mellitus 9.9
7 acanthosis nigricans 9.8
8 periodontitis 9.8

Graphical network of the top 20 diseases related to Lipodystrophy, Congenital Generalized, Type 2:



Diseases related to Lipodystrophy, Congenital Generalized, Type 2

Symptoms & Phenotypes for Lipodystrophy, Congenital Generalized, Type 2

Symptoms via clinical synopsis from OMIM:

57
AbdomenSpleen:
splenomegaly

Abdomen External Features:
umbilical hernia
prominent umbilicus

Laboratory Abnormalities:
hypertriglyceridemia
hyperinsulinemia
decreased serum leptin
elevated liver enzymes

Genitourinary Internal Genitalia Female:
polycystic ovaries
decreased fertility in females

Skeletal Hands:
large hands

Endocrine Features:
decreased fertility in females
insulin-resistant diabetes mellitus at puberty

Muscle Soft Tissue:
nearly complete absence of metabolically active adipose tissue (subcutaneous, intraabdominal, intrathoracic)
hernias
nearly complete absence of mechanical adipose tissue (joints, orbits, palms, soles)
generalized muscular appearance from birth

Skeletal Feet:
large feet

Head And Neck Ears:
large ears

Head And Neck Face:
triangular facies
large mandible
acromegaloid appearance

Genitourinary:
genital anomalies

Abdomen Pancreas:
pancreatitis, acute

Abdomen Liver:
hepatomegaly
hepatic steatosis
cirrhosis

Cardiovascular Heart:
hypertrophic cardiomyopathy

Skin Nails Hair Skin:
acanthosis nigricans

Genitourinary Kidneys:
nephrolithiasis

Genitourinary External Genitalia Female:
clitoromegaly
labial hypertrophy

Skin Nails Hair Hair:
hirsutism

Skeletal:
advanced bone age
lytic cystic lesions in appendicular bones (occurs after puberty)

Neurologic Central Nervous System:
mental retardation, mild

Voice:
high-pitched voice

Abdomen Gastrointestinal:
voracious appetite

Growth Height:
increased linear growth


Clinical features from OMIM:

269700

Human phenotypes related to Lipodystrophy, Congenital Generalized, Type 2:

32 (show all 35)
# Description HPO Frequency HPO Source Accession
1 labial hypertrophy 32 HP:0000065
2 tall stature 32 HP:0000098
3 decreased fertility 32 HP:0000144
4 polycystic ovaries 32 HP:0000147
5 mandibular prognathia 32 HP:0000303
6 triangular face 32 HP:0000325
7 macrotia 32 HP:0000400
8 nephrolithiasis 32 HP:0000787
9 hyperinsulinemia 32 HP:0000842
10 decreased fertility in females 32 HP:0000868
11 insulin-resistant diabetes mellitus at puberty 32 HP:0000877
12 acanthosis nigricans 32 HP:0000956
13 hirsutism 32 HP:0001007
14 large hands 32 HP:0001176
15 intellectual disability, mild 32 HP:0001256
16 cirrhosis 32 HP:0001394
17 hepatic steatosis 32 HP:0001397
18 umbilical hernia 32 HP:0001537
19 prominent umbilicus 32 HP:0001544
20 high pitched voice 32 HP:0001620
21 hypertrophic cardiomyopathy 32 HP:0001639
22 acute pancreatitis 32 HP:0001735
23 splenomegaly 32 HP:0001744
24 long foot 32 HP:0001833
25 hypertriglyceridemia 32 HP:0002155
26 hepatomegaly 32 HP:0002240
27 polyphagia 32 HP:0002591
28 cystic angiomatosis of bone 32 HP:0002833
29 elevated hepatic transaminases 32 HP:0002910
30 decreased serum leptin 32 HP:0003292
31 generalized muscular appearance from birth 32 HP:0003716
32 reduced intrathoracic adipose tissue 32 HP:0003809
33 accelerated skeletal maturation 32 HP:0005616
34 clitoral hypertrophy 32 HP:0008665
35 lipodystrophy 32 HP:0009125

UMLS symptoms related to Lipodystrophy, Congenital Generalized, Type 2:


myalgia

Drugs & Therapeutics for Lipodystrophy, Congenital Generalized, Type 2

Search Clinical Trials , NIH Clinical Center for Lipodystrophy, Congenital Generalized, Type 2

Genetic Tests for Lipodystrophy, Congenital Generalized, Type 2

Genetic tests related to Lipodystrophy, Congenital Generalized, Type 2:

# Genetic test Affiliating Genes
1 Congenital Generalized Lipodystrophy Type 2 29 BSCL2

Anatomical Context for Lipodystrophy, Congenital Generalized, Type 2

MalaCards organs/tissues related to Lipodystrophy, Congenital Generalized, Type 2:

41
Bone, Ovary, Liver

Publications for Lipodystrophy, Congenital Generalized, Type 2

Articles related to Lipodystrophy, Congenital Generalized, Type 2:

# Title Authors Year
1
Congenital Generalized Lipodystrophy Type 2 in a Patient From a High-Prevalence Area. ( 29264552 )
2017
2
Progressive Myoclonus Epilepsy in Congenital Generalized Lipodystrophy type 2: Report of 3 cases and literature review. ( 27632409 )
2016

Variations for Lipodystrophy, Congenital Generalized, Type 2

UniProtKB/Swiss-Prot genetic disease variations for Lipodystrophy, Congenital Generalized, Type 2:

75
# Symbol AA change Variation ID SNP ID
1 BSCL2 p.Ala212Pro VAR_022377 rs137852971

ClinVar genetic disease variations for Lipodystrophy, Congenital Generalized, Type 2:

6
(show all 46)
# Gene Variation Type Significance SNP ID Assembly Location
1 BSCL2 NM_032667.6(BSCL2): c.192_193delCCinsGGA (p.Ser64Argfs) indel Pathogenic rs786205068 GRCh38 Chromosome 11, 62705320: 62705321
2 BSCL2 NM_032667.6(BSCL2): c.192_193delCCinsGGA (p.Ser64Argfs) indel Pathogenic rs786205068 GRCh37 Chromosome 11, 62472792: 62472793
3 BSCL2 NM_032667.6(BSCL2): c.301_302insAA (p.Met101Lysfs) insertion Pathogenic rs786205069 GRCh38 Chromosome 11, 62694704: 62694705
4 BSCL2 NM_032667.6(BSCL2): c.301_302insAA (p.Met101Lysfs) insertion Pathogenic rs786205069 GRCh37 Chromosome 11, 62462176: 62462177
5 BSCL2 NM_032667.6(BSCL2): c.315_316delGT (p.Tyr106Serfs) deletion Pathogenic rs786205070 GRCh38 Chromosome 11, 62694690: 62694691
6 BSCL2 NM_032667.6(BSCL2): c.315_316delGT (p.Tyr106Serfs) deletion Pathogenic rs786205070 GRCh37 Chromosome 11, 62462162: 62462163
7 BSCL2 BSCL2, 258-BP DEL/12-BP INS indel Pathogenic
8 BSCL2 NM_032667.6(BSCL2): c.317_321delATCGT (p.Tyr106Cysfs) deletion Pathogenic rs587777608 GRCh38 Chromosome 11, 62694685: 62694689
9 BSCL2 NM_032667.6(BSCL2): c.317_321delATCGT (p.Tyr106Cysfs) deletion Pathogenic rs587777608 GRCh37 Chromosome 11, 62462157: 62462161
10 BSCL2 NM_032667.6(BSCL2): c.325dupA (p.Thr109Asnfs) duplication Pathogenic rs786205071 GRCh38 Chromosome 11, 62694681: 62694681
11 BSCL2 NM_032667.6(BSCL2): c.325dupA (p.Thr109Asnfs) duplication Pathogenic rs786205071 GRCh37 Chromosome 11, 62462153: 62462153
12 BSCL2 NM_032667.6(BSCL2): c.412C> T (p.Arg138Ter) single nucleotide variant Pathogenic rs137852970 GRCh37 Chromosome 11, 62462066: 62462066
13 BSCL2 NM_032667.6(BSCL2): c.412C> T (p.Arg138Ter) single nucleotide variant Pathogenic rs137852970 GRCh38 Chromosome 11, 62694594: 62694594
14 BSCL2 BSCL2, IVS4, G-A, +1 single nucleotide variant Pathogenic
15 BSCL2 NM_032667.6(BSCL2): c.634G> C (p.Ala212Pro) single nucleotide variant Pathogenic rs137852971 GRCh37 Chromosome 11, 62459885: 62459885
16 BSCL2 NM_032667.6(BSCL2): c.634G> C (p.Ala212Pro) single nucleotide variant Pathogenic rs137852971 GRCh38 Chromosome 11, 62692413: 62692413
17 BSCL2 NM_032667.6(BSCL2): c.636delC (p.Tyr213Thrfs) deletion Pathogenic rs758843908 GRCh38 Chromosome 11, 62692411: 62692411
18 BSCL2 NM_032667.6(BSCL2): c.636delC (p.Tyr213Thrfs) deletion Pathogenic rs758843908 GRCh37 Chromosome 11, 62459883: 62459883
19 BSCL2 NM_032667.6(BSCL2): c.671+5G> A single nucleotide variant Pathogenic rs786205072 GRCh38 Chromosome 11, 62692371: 62692371
20 BSCL2 NM_032667.6(BSCL2): c.671+5G> A single nucleotide variant Pathogenic rs786205072 GRCh37 Chromosome 11, 62459843: 62459843
21 BSCL2 NM_032667.6(BSCL2): c.672-3C> G single nucleotide variant Pathogenic rs786205073 GRCh38 Chromosome 11, 62691424: 62691424
22 BSCL2 NM_032667.6(BSCL2): c.672-3C> G single nucleotide variant Pathogenic rs786205073 GRCh37 Chromosome 11, 62458896: 62458896
23 BSCL2 NM_032667.6(BSCL2): c.823C> T (p.Arg275Ter) single nucleotide variant Pathogenic rs137852974 GRCh37 Chromosome 11, 62458604: 62458604
24 BSCL2 NM_032667.6(BSCL2): c.823C> T (p.Arg275Ter) single nucleotide variant Pathogenic rs137852974 GRCh38 Chromosome 11, 62691132: 62691132
25 BSCL2 NM_032667.6(BSCL2): c.565G> T (p.Glu189Ter) single nucleotide variant Pathogenic rs137852975 GRCh37 Chromosome 11, 62460143: 62460143
26 BSCL2 NM_032667.6(BSCL2): c.565G> T (p.Glu189Ter) single nucleotide variant Pathogenic rs137852975 GRCh38 Chromosome 11, 62692671: 62692671
27 BSCL2 NM_032667.6(BSCL2): c.793C> T (p.Arg265Ter) single nucleotide variant Pathogenic rs587777606 GRCh38 Chromosome 11, 62691300: 62691300
28 BSCL2 NM_032667.6(BSCL2): c.793C> T (p.Arg265Ter) single nucleotide variant Pathogenic rs587777606 GRCh37 Chromosome 11, 62458772: 62458772
29 BSCL2 NM_032667.6(BSCL2): c.782dupG (p.Ile262Hisfs) duplication Pathogenic rs749890533 GRCh38 Chromosome 11, 62691311: 62691311
30 BSCL2 NM_032667.6(BSCL2): c.782dupG (p.Ile262Hisfs) duplication Pathogenic rs749890533 GRCh37 Chromosome 11, 62458783: 62458783
31 BSCL2 NM_032667.6(BSCL2): c.672-2A> G single nucleotide variant Pathogenic rs766061024 GRCh38 Chromosome 11, 62691423: 62691423
32 BSCL2 NM_032667.6(BSCL2): c.672-2A> G single nucleotide variant Pathogenic rs766061024 GRCh37 Chromosome 11, 62458895: 62458895
33 BSCL2 NM_032667.6(BSCL2): c.672-2A> C single nucleotide variant Pathogenic rs766061024 GRCh38 Chromosome 11, 62691423: 62691423
34 BSCL2 NM_032667.6(BSCL2): c.672-2A> C single nucleotide variant Pathogenic rs766061024 GRCh37 Chromosome 11, 62458895: 62458895
35 BSCL2 NM_032667.6(BSCL2): c.574-2A> G single nucleotide variant Pathogenic rs1013079991 GRCh38 Chromosome 11, 62692475: 62692475
36 BSCL2 NM_032667.6(BSCL2): c.574-2A> G single nucleotide variant Pathogenic rs1013079991 GRCh37 Chromosome 11, 62459947: 62459947
37 BSCL2 NM_032667.6(BSCL2): c.193delCinsGGA (p.Pro65Glyfs) indel Pathogenic rs1057517659 GRCh38 Chromosome 11, 62705320: 62705320
38 BSCL2 NM_032667.6(BSCL2): c.193delCinsGGA (p.Pro65Glyfs) indel Pathogenic rs1057517659 GRCh37 Chromosome 11, 62472792: 62472792
39 BSCL2 NM_032667.6(BSCL2): c.154_155dupTT (p.Tyr53Serfs) duplication Pathogenic rs1057517658 GRCh38 Chromosome 11, 62705358: 62705359
40 BSCL2 NM_032667.6(BSCL2): c.154_155dupTT (p.Tyr53Serfs) duplication Pathogenic rs1057517658 GRCh37 Chromosome 11, 62472830: 62472831
41 BSCL2 NM_032667.6(BSCL2): c.142C> T (p.Leu48Phe) single nucleotide variant Pathogenic rs1057517657 GRCh38 Chromosome 11, 62705371: 62705371
42 BSCL2 NM_032667.6(BSCL2): c.142C> T (p.Leu48Phe) single nucleotide variant Pathogenic rs1057517657 GRCh37 Chromosome 11, 62472843: 62472843
43 BSCL2 NM_032667.6(BSCL2): c.652_662delGCGCACTTCAC (p.Ala218Trpfs) deletion Pathogenic rs1064797076 GRCh38 Chromosome 11, 62692385: 62692395
44 BSCL2 NM_032667.6(BSCL2): c.652_662delGCGCACTTCAC (p.Ala218Trpfs) deletion Pathogenic rs1064797076 GRCh37 Chromosome 11, 62459857: 62459867
45 BSCL2 NM_032667.6(BSCL2): c.750dup (p.Leu251Alafs) duplication Pathogenic GRCh37 Chromosome 11, 62458815: 62458815
46 BSCL2 NM_032667.6(BSCL2): c.750dup (p.Leu251Alafs) duplication Pathogenic GRCh38 Chromosome 11, 62691343: 62691343

Expression for Lipodystrophy, Congenital Generalized, Type 2

Search GEO for disease gene expression data for Lipodystrophy, Congenital Generalized, Type 2.

Pathways for Lipodystrophy, Congenital Generalized, Type 2

GO Terms for Lipodystrophy, Congenital Generalized, Type 2

Sources for Lipodystrophy, Congenital Generalized, Type 2

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