MCID: LPD033
MIFTS: 34

Lipodystrophy, Congenital Generalized, Type 2

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

Aliases & Classifications for Lipodystrophy, Congenital Generalized, Type 2

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

Name: Lipodystrophy, Congenital Generalized, Type 2 53 13
Congenital Generalized Lipodystrophy Type 2 12 49 28 69
Total Lipodystrophy and Acromegaloid Gigantism 12 49 71
Cgl2 53 12 71
Berardinelli-Seip Congenital Lipodystrophy Type 2 12 71
Brunzell Syndrome Bscl2-Related 12 71
Berardinelli Syndrome 53 49
Lipodystrophy, Berardinelli-Seip Congenital, Type 2 53
Berardinelli-Seip Congenital Lipodystrophy, Type 2 53
Berardinelli Seip Congenital Lipodystrophy Type 2 49
Lipodystrophy, Total, and Acromegaloid Gigantism 53
Congenital Generalized Lipodystrophy 2 71
Familial Partial Lipodystrophy, Type 2 69
Familial Generalized Lipodystrophy 69
Lipoatrophic Diabetes, Congenital 53
Brunzell Syndrome, Bscl2-Related 53
Congenital Lipoatrophic Diabetes 12
Bscl2-Related Brunzell Syndrome 49
Lipodystrophy Berardinelli Type 71
Lipoatrophic Diabetes Mellitus 69
Berardinelli-Seip Syndrome 71
Lipoatrophic Diabetes 71
Seip Syndrome 53

Characteristics:

OMIM:

53
Inheritance:
autosomal recessive

Miscellaneous:
onset at birth or early infancy


HPO:

31
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 : 53 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 lipodystrophy, familial partial, type 2 and aredyld, and has symptoms including mandibular prognathia, macrotia and splenomegaly. An important gene associated with Lipodystrophy, Congenital Generalized, Type 2 is BSCL2 (BSCL2, Seipin Lipid Droplet Biogenesis Associated). Affiliated tissues include bone, skin and liver.

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

NIH Rare Diseases : 49 This condition doesn't have a summary yet. Please see our page(s) on Congenital generalized lipodystrophy.

UniProtKB/Swiss-Prot : 71 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

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:

53
AbdomenSpleen:
splenomegaly

AbdomenExternalFeatures:
umbilical hernia
prominent umbilicus

LaboratoryAbnormalities:
hypertriglyceridemia
hyperinsulinemia
decreased serum leptin
elevated liver enzymes

GenitourinaryInternalGenitaliaFemale:
polycystic ovaries
decreased fertility in females

SkeletalHands:
large hands

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

MuscleSoftTissue:
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

SkeletalFeet:
large feet

HeadAndNeckEars:
large ears

HeadAndNeckFace:
triangular facies
large mandible
acromegaloid appearance

Genitourinary:
genital anomalies

AbdomenPancreas:
pancreatitis, acute

AbdomenLiver:
hepatomegaly
hepatic steatosis
cirrhosis

CardiovascularHeart:
hypertrophic cardiomyopathy

SkinNailsHairSkin:
acanthosis nigricans

GenitourinaryKidneys:
nephrolithiasis

GenitourinaryExternalGenitaliaFemale:
clitoromegaly
labial hypertrophy

SkinNailsHairHair:
hirsutism

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

NeurologicCentralNervousSystem:
mental retardation, mild

Voice:
high-pitched voice

AbdomenGastrointestinal:
voracious appetite

GrowthHeight:
increased linear growth


Clinical features from OMIM:

269700

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

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

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 28 BSCL2

Anatomical Context for Lipodystrophy, Congenital Generalized, Type 2

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

38
Bone, Skin, Liver, Ovary

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:

71
# 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 24)
# Gene Variation Type Significance SNP ID Assembly Location
1 BSCL2 NM_032667.6(BSCL2): c.793C> T (p.Arg265Ter) single nucleotide variant Pathogenic rs587777606 GRCh38 Chromosome 11, 62691300: 62691300
2 BSCL2 BSCL2, 258-BP DEL/12-BP INS indel Pathogenic
3 BSCL2 NM_032667.6(BSCL2): c.192_193delCCinsGGA (p.Ser64Argfs) indel Pathogenic rs786205068 GRCh38 Chromosome 11, 62705320: 62705321
4 BSCL2 NM_032667.6(BSCL2): c.301_302insAA (p.Met101Lysfs) insertion Pathogenic rs786205069 GRCh38 Chromosome 11, 62694704: 62694705
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.317_321delATCGT (p.Tyr106Cysfs) deletion Pathogenic rs587777608 GRCh38 Chromosome 11, 62694685: 62694689
7 BSCL2 NM_032667.6(BSCL2): c.325dupA (p.Thr109Asnfs) duplication Pathogenic rs786205071 GRCh38 Chromosome 11, 62694681: 62694681
8 BSCL2 NM_032667.6(BSCL2): c.412C> T (p.Arg138Ter) single nucleotide variant Pathogenic rs137852970 GRCh37 Chromosome 11, 62462066: 62462066
9 BSCL2 BSCL2, IVS4, G-A, +1 single nucleotide variant Pathogenic
10 BSCL2 NM_032667.6(BSCL2): c.634G> C (p.Ala212Pro) single nucleotide variant Pathogenic rs137852971 GRCh37 Chromosome 11, 62459885: 62459885
11 BSCL2 NM_032667.6(BSCL2): c.636delC (p.Tyr213Thrfs) deletion Pathogenic rs758843908 GRCh38 Chromosome 11, 62692411: 62692411
12 BSCL2 NM_032667.6(BSCL2): c.671+5G> A single nucleotide variant Pathogenic rs786205072 GRCh38 Chromosome 11, 62692371: 62692371
13 BSCL2 NM_032667.6(BSCL2): c.672-3C> G single nucleotide variant Pathogenic rs786205073 GRCh38 Chromosome 11, 62691424: 62691424
14 BSCL2 NM_032667.6(BSCL2): c.823C> T (p.Arg275Ter) single nucleotide variant Pathogenic rs137852974 GRCh37 Chromosome 11, 62458604: 62458604
15 BSCL2 NM_032667.6(BSCL2): c.565G> T (p.Glu189Ter) single nucleotide variant Pathogenic rs137852975 GRCh37 Chromosome 11, 62460143: 62460143
16 BSCL2 NM_032667.6(BSCL2): c.782dupG (p.Ile262Hisfs) duplication Pathogenic rs749890533 GRCh38 Chromosome 11, 62691311: 62691311
17 BSCL2 NM_032667.6(BSCL2): c.672-2A> G single nucleotide variant Pathogenic rs766061024 GRCh38 Chromosome 11, 62691423: 62691423
18 BSCL2 NM_032667.6(BSCL2): c.672-2A> C single nucleotide variant Pathogenic rs766061024 GRCh38 Chromosome 11, 62691423: 62691423
19 BSCL2 NM_032667.6(BSCL2): c.574-2A> G single nucleotide variant Pathogenic rs1013079991 GRCh38 Chromosome 11, 62692475: 62692475
20 BSCL2 NM_032667.6(BSCL2): c.193delCinsGGA (p.Pro65Glyfs) indel Pathogenic rs1057517659 GRCh38 Chromosome 11, 62705320: 62705320
21 BSCL2 NM_032667.6(BSCL2): c.154_155dupTT (p.Tyr53Serfs) duplication Pathogenic rs1057517658 GRCh38 Chromosome 11, 62705358: 62705359
22 BSCL2 NM_032667.6(BSCL2): c.142C> T (p.Leu48Phe) single nucleotide variant Pathogenic rs1057517657 GRCh38 Chromosome 11, 62705371: 62705371
23 BSCL2 NM_032667.6(BSCL2): c.652_662delGCGCACTTCAC (p.Ala218Trpfs) deletion Pathogenic rs1064797076 GRCh38 Chromosome 11, 62692385: 62692395
24 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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