CGL2
MCID: LPD033
MIFTS: 33

Lipodystrophy, Congenital Generalized, Type 2 (CGL2) malady

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

Aliases & Classifications for Lipodystrophy, Congenital Generalized, Type 2

Aliases & Descriptions for Lipodystrophy, Congenital Generalized, Type 2:

Name: Lipodystrophy, Congenital Generalized, Type 2 54 13
Berardinelli-Seip Congenital Lipodystrophy Type 2 12 24 66
Total Lipodystrophy and Acromegaloid Gigantism 12 50 66
Congenital Generalized Lipodystrophy Type 2 12 50 69
Congenital Generalized Lipodystrophy 2 66 29
Congenital Lipoatrophic Diabetes 12 50
Brunzell Syndrome Bscl2-Related 12 66
Cgl2 12 66
Berardinelli-Seip Congenital Generalized Lipodystrophy Type 2 24
Berardinelli Seip Congenital Lipodystrophy Type 2 50
Familial Partial Lipodystrophy, Type 2 69
Familial Generalized Lipodystrophy 69
Bscl2-Related Brunzell Syndrome 24
Lipodystrophy Berardinelli Type 66
Lipoatrophic Diabetes Mellitus 69
Berardinelli-Seip Syndrome 66
Lipoatrophic Diabetes 66
Berardinelli Syndrome 50
Brunzell Syndrome 50
Seip Syndrome 50
Bscl Type 2 24
Bscl2 24

Characteristics:

HPO:

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


Classifications:



External Ids:

OMIM 54 269700
Disease Ontology 12 DOID:0111136
ICD10 33 E88.1
MedGen 40 C1720863
MeSH 42 D052497

Summaries for Lipodystrophy, Congenital Generalized, Type 2

OMIM : 54 Congenital generalized lipodystrophy (CGL), also known as Berardinelli-Seip syndrome, is an autosomal recessive... (269700) more...

MalaCards based summary : Lipodystrophy, Congenital Generalized, Type 2, also known as berardinelli-seip congenital lipodystrophy type 2, is related to aredyld and lipodystrophy, familial partial, 2, and has symptoms including mandibular prognathia, splenomegaly and hepatomegaly. An important gene associated with Lipodystrophy, Congenital Generalized, Type 2 is BSCL2 (BSCL2, Seipin Lipid Droplet Biogenesis Associated), and among its related pathways/superpathways is Adipogenesis. Affiliated tissues include bone, skin and ovary, and related phenotype is adipose tissue.

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 : 66 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 by clinical synopsis from OMIM:

269700

Clinical features from OMIM:

269700

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

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

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


myalgia

MGI Mouse Phenotypes related to Lipodystrophy, Congenital Generalized, Type 2:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 adipose tissue MP:0005375 8.62 BSCL2 LMNA

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:

id Genetic test Affiliating Genes
1 Congenital Generalized Lipodystrophy Type 2 29
2 Berardinelli-Seip Congenital Lipodystrophy Type 2 24 BSCL2

Anatomical Context for Lipodystrophy, Congenital Generalized, Type 2

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

39
Bone, Skin, Ovary

Publications for Lipodystrophy, Congenital Generalized, Type 2

Variations for Lipodystrophy, Congenital Generalized, Type 2

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

66
id 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 23)
id 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.301_302insAA (p.Met101Lysfs) insertion Pathogenic rs786205069 GRCh38 Chromosome 11, 62694704: 62694705
3 BSCL2 NM_032667.6(BSCL2): c.315_316delGT (p.Tyr106Serfs) deletion Pathogenic rs786205070 GRCh38 Chromosome 11, 62694690: 62694691
4 BSCL2 BSCL2, 258-BP DEL/12-BP INS indel Pathogenic
5 BSCL2 NM_032667.6(BSCL2): c.317_321delATCGT (p.Tyr106Cysfs) deletion Pathogenic rs587777608 GRCh38 Chromosome 11, 62694685: 62694689
6 BSCL2 NM_032667.6(BSCL2): c.325dupA (p.Thr109Asnfs) duplication Pathogenic rs786205071 GRCh38 Chromosome 11, 62694681: 62694681
7 BSCL2 NM_032667.6(BSCL2): c.412C> T (p.Arg138Ter) single nucleotide variant Pathogenic rs137852970 GRCh37 Chromosome 11, 62462066: 62462066
8 BSCL2 BSCL2, IVS4, G-A, +1 single nucleotide variant Pathogenic
9 BSCL2 NM_032667.6(BSCL2): c.634G> C (p.Ala212Pro) single nucleotide variant Pathogenic rs137852971 GRCh37 Chromosome 11, 62459885: 62459885
10 BSCL2 NM_032667.6(BSCL2): c.636delC (p.Tyr213Thrfs) deletion Pathogenic rs758843908 GRCh38 Chromosome 11, 62692411: 62692411
11 BSCL2 NM_032667.6(BSCL2): c.671+5G> A single nucleotide variant Pathogenic rs786205072 GRCh38 Chromosome 11, 62692371: 62692371
12 BSCL2 NM_032667.6(BSCL2): c.672-3C> G single nucleotide variant Pathogenic rs786205073 GRCh38 Chromosome 11, 62691424: 62691424
13 BSCL2 NM_032667.6(BSCL2): c.823C> T (p.Arg275Ter) single nucleotide variant Pathogenic rs137852974 GRCh37 Chromosome 11, 62458604: 62458604
14 BSCL2 NM_032667.6(BSCL2): c.565G> T (p.Glu189Ter) single nucleotide variant Pathogenic rs137852975 GRCh37 Chromosome 11, 62460143: 62460143
15 BSCL2 NM_032667.6(BSCL2): c.793C> T (p.Arg265Ter) single nucleotide variant Pathogenic rs587777606 GRCh38 Chromosome 11, 62691300: 62691300
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 GRCh38 Chromosome 11, 62692385: 62692395

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

Pathways related to Lipodystrophy, Congenital Generalized, Type 2 according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1 10.74 BSCL2 LMNA

GO Terms for Lipodystrophy, Congenital Generalized, Type 2

Sources for Lipodystrophy, Congenital Generalized, Type 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
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18 FMA
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