CGL1
MCID: LPD032
MIFTS: 33

Lipodystrophy, Congenital Generalized, Type 1 (CGL1) malady

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

Aliases & Classifications for Lipodystrophy, Congenital Generalized, Type 1

Aliases & Descriptions for Lipodystrophy, Congenital Generalized, Type 1:

Name: Lipodystrophy, Congenital Generalized, Type 1 54 13
Bscl1 12 50 24 66
Berardinelli-Seip Congenital Lipodystrophy Type 1 50 24 66
Congenital Generalized Lipodystrophy Type 1 12 50 69
Congenital Generalized Lipodystrophy 1 66 29
Brunzell Syndrome Agpat2-Related 12 66
Cgl1 12 66
Berardinelli-Seip Congenital Generalized Lipodystrophy Type 1 24
Berardinelli-Seip Congenital Lipodystrophy, Type 1 12
Total Lipodystrophy and Acromegaloid Gigantism 66
Familial Partial Lipodystrophy, Type 2 69
Lipodystrophy, Congenital Generalized 42
Familial Generalized Lipodystrophy 69
Brunzell Syndrome, Agpat2-Related 50
Agpat2-Related Brunzell Syndrome 24
Lipodystrophy Berardinelli Type 66
Lipoatrophic Diabetes Mellitus 69
Berardinelli-Seip Syndrome 66
Lipoatrophic Diabetes 66
Bscl Type 1 24

Characteristics:

HPO:

32
lipodystrophy, congenital generalized, type 1:
Inheritance autosomal recessive inheritance heterogeneous


Classifications:



External Ids:

OMIM 54 608594
Disease Ontology 12 DOID:0111135
ICD10 33 E88.1
MedGen 40 C1720862
MeSH 42 D052497

Summaries for Lipodystrophy, Congenital Generalized, Type 1

OMIM : 54 Congenital generalized lipodystrophy (CGL), or Berardinelli-Seip syndrome, is a rare autosomal recessive disease... (608594) more...

MalaCards based summary : Lipodystrophy, Congenital Generalized, Type 1, also known as bscl1, 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 1 is AGPAT2 (1-Acylglycerol-3-Phosphate O-Acyltransferase 2), and among its related pathways/superpathways is Adipogenesis. Affiliated tissues include bone, skin and ovary, and related phenotypes are Decreased shRNA abundance (Z-score < -2) and adipose tissue

Disease Ontology : 12 A congenital generalized lipodystrophy that has material basis in an autosomal recessive mutation of AGPAT2 on chromosome 9q34.3.

UniProtKB/Swiss-Prot : 66 Congenital generalized lipodystrophy 1: 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 1

Graphical network of the top 20 diseases related to Lipodystrophy, Congenital Generalized, Type 1:



Diseases related to Lipodystrophy, Congenital Generalized, Type 1

Symptoms & Phenotypes for Lipodystrophy, Congenital Generalized, Type 1

Symptoms by clinical synopsis from OMIM:

608594

Clinical features from OMIM:

608594

Human phenotypes related to Lipodystrophy, Congenital Generalized, Type 1:

32 (show all 27)
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 hypertriglyceridemia 32 HP:0002155
6 acanthosis nigricans 32 HP:0000956
7 hepatic steatosis 32 HP:0001397
8 hyperinsulinemia 32 HP:0000842
9 cirrhosis 32 HP:0001394
10 polycystic ovaries 32 HP:0000147
11 polyphagia 32 HP:0002591
12 large hands 32 HP:0001176
13 tall stature 32 HP:0000098
14 accelerated skeletal maturation 32 HP:0005616
15 decreased fertility in females 32 HP:0000868
16 decreased serum leptin 32 HP:0003292
17 lipodystrophy 32 HP:0009125
18 hirsutism 32 HP:0001007
19 clitoral hypertrophy 32 HP:0008665
20 long foot 32 HP:0001833
21 insulin-resistant diabetes mellitus at puberty 32 HP:0000877
22 acute pancreatitis 32 HP:0001735
23 cystic angiomatosis of bone 32 HP:0002833
24 labial hypertrophy 32 HP:0000065
25 prominent umbilicus 32 HP:0001544
26 generalized muscular appearance from birth 32 HP:0003716
27 reduced intrathoracic adipose tissue 32 HP:0003809

UMLS symptoms related to Lipodystrophy, Congenital Generalized, Type 1:


myalgia

GenomeRNAi Phenotypes related to Lipodystrophy, Congenital Generalized, Type 1 according to GeneCards Suite gene sharing:

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-119 9.47 LMNA
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-139 9.47 AGPAT2
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-165 9.47 AGPAT2
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-34 9.47 LMNA AGPAT2
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-91 9.47 AGPAT2 LMNA

MGI Mouse Phenotypes related to Lipodystrophy, Congenital Generalized, Type 1:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 adipose tissue MP:0005375 8.96 AGPAT2 LMNA
2 limbs/digits/tail MP:0005371 8.62 AGPAT2 LMNA

Drugs & Therapeutics for Lipodystrophy, Congenital Generalized, Type 1

Search Clinical Trials , NIH Clinical Center for Lipodystrophy, Congenital Generalized, Type 1

Cochrane evidence based reviews: lipodystrophy, congenital generalized

Genetic Tests for Lipodystrophy, Congenital Generalized, Type 1

Genetic tests related to Lipodystrophy, Congenital Generalized, Type 1:

id Genetic test Affiliating Genes
1 Congenital Generalized Lipodystrophy Type 1 29
2 Berardinelli-Seip Congenital Lipodystrophy Type 1 24 AGPAT2

Anatomical Context for Lipodystrophy, Congenital Generalized, Type 1

MalaCards organs/tissues related to Lipodystrophy, Congenital Generalized, Type 1:

39
Bone, Skin, Ovary

Publications for Lipodystrophy, Congenital Generalized, Type 1

Variations for Lipodystrophy, Congenital Generalized, Type 1

UniProtKB/Swiss-Prot genetic disease variations for Lipodystrophy, Congenital Generalized, Type 1:

66
id Symbol AA change Variation ID SNP ID
1 AGPAT2 p.Ala239Val VAR_017325 rs145975461
2 AGPAT2 p.Leu228Pro VAR_017327 rs104894100
3 AGPAT2 p.Gly136Arg VAR_017328 rs797045222

ClinVar genetic disease variations for Lipodystrophy, Congenital Generalized, Type 1:

6 (show all 24)
id Gene Variation Type Significance SNP ID Assembly Location
1 AGPAT2 NM_006412.3(AGPAT2): c.202C> T (p.Arg68Ter) single nucleotide variant Pathogenic rs104894093 GRCh37 Chromosome 9, 139571989: 139571989
2 AGPAT2 NM_006412.3(AGPAT2): c.589-2A> G single nucleotide variant Pathogenic rs116807569 GRCh38 Chromosome 9, 136674809: 136674809
3 AGPAT2 NM_006412.3(AGPAT2): c.377dupT (p.Pro128Alafs) duplication Pathogenic rs387906355 GRCh37 Chromosome 9, 139571528: 139571528
4 AGPAT2 NM_006412.3(AGPAT2): c.683T> C (p.Leu228Pro) single nucleotide variant Pathogenic rs104894100 GRCh37 Chromosome 9, 139568358: 139568358
5 AGPAT2 NM_006412.3(AGPAT2): c.418_420delTTC (p.Phe140del) deletion Pathogenic rs387906356 GRCh37 Chromosome 9, 139571485: 139571487
6 AGPAT2 NM_006412.3(AGPAT2): c.643A> T (p.Lys215Ter) single nucleotide variant Pathogenic rs121908925 GRCh37 Chromosome 9, 139569205: 139569205
7 AGPAT2 NM_006412.3(AGPAT2): c.493-1G> C single nucleotide variant Pathogenic rs606231168 GRCh38 Chromosome 9, 136676681: 136676681
8 AGPAT2 NM_006412.3(AGPAT2): c.570C> A (p.Tyr190Ter) single nucleotide variant Pathogenic rs121908926 GRCh37 Chromosome 9, 139571055: 139571055
9 AGPAT2 NM_001012727.1(AGPAT2): c.366_492+910del1037 deletion Pathogenic GRCh37 Chromosome 9, 139570503: 139571539
10 AGPAT2 NM_006412.3(AGPAT2): c.406G> A (p.Gly136Arg) single nucleotide variant Pathogenic rs797045222 GRCh37 Chromosome 9, 139571499: 139571499
11 AGPAT2 NM_006412.3(AGPAT2): c.282delC (p.Ile94Metfs) deletion Pathogenic rs886043265 GRCh37 Chromosome 9, 139571909: 139571909
12 AGPAT2 NM_006412.3(AGPAT2): c.755_763delTGAGGACCA (p.Met252_Thr254del) deletion Pathogenic rs1057517656 GRCh37 Chromosome 9, 139568278: 139568286
13 AGPAT2 NM_006412.3(AGPAT2): c.713C> G (p.Ala238Gly) single nucleotide variant Pathogenic rs200656731 GRCh37 Chromosome 9, 139568328: 139568328
14 AGPAT2 NM_006412.3(AGPAT2): c.676C> T (p.Gln226Ter) single nucleotide variant Pathogenic rs1057517655 GRCh37 Chromosome 9, 139568365: 139568365
15 AGPAT2 NM_006412.3(AGPAT2): c.661+2T> G single nucleotide variant Pathogenic rs1057517654 GRCh37 Chromosome 9, 139569185: 139569185
16 AGPAT2 NM_006412.3(AGPAT2): c.538delG (p.Asp180ThrfsTer73) deletion Pathogenic rs1057517653 GRCh37 Chromosome 9, 139571087: 139571087
17 AGPAT2 NM_006412.3(AGPAT2): c.514G> A (p.Glu172Lys) single nucleotide variant Pathogenic rs748157664 GRCh38 Chromosome 9, 136676659: 136676659
18 AGPAT2 NM_006412.3(AGPAT2): c.492+1G> A single nucleotide variant Pathogenic rs933422777 GRCh37 Chromosome 9, 139571412: 139571412
19 AGPAT2 NM_006412.3(AGPAT2): c.299G> A (p.Ser100Asn) single nucleotide variant Pathogenic rs764260414 GRCh37 Chromosome 9, 139571892: 139571892
20 AGPAT2 NM_006412.3(AGPAT2): c.194G> A (p.Trp65Ter) single nucleotide variant Pathogenic rs1057517651 GRCh38 Chromosome 9, 136677545: 136677545
21 AGPAT2 NM_006412.3(AGPAT2): c.183-2A> G single nucleotide variant Pathogenic rs1057517649 GRCh38 Chromosome 9, 136677558: 136677558
22 AGPAT2 NM_006412.3(AGPAT2): c.182+1G> A single nucleotide variant Pathogenic rs1057517650 GRCh37 Chromosome 9, 139581627: 139581627
23 AGPAT2 NP_006403.2: p.Leu107AlafsTer279 deletion Pathogenic
24 AGPAT2 NM_006412.3(AGPAT2): c.503G> A (p.Trp168Ter) single nucleotide variant Pathogenic rs1057518714 GRCh37 Chromosome 9, 139571122: 139571122

Expression for Lipodystrophy, Congenital Generalized, Type 1

Search GEO for disease gene expression data for Lipodystrophy, Congenital Generalized, Type 1.

Pathways for Lipodystrophy, Congenital Generalized, Type 1

Pathways related to Lipodystrophy, Congenital Generalized, Type 1 according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1 10.74 AGPAT2 LMNA

GO Terms for Lipodystrophy, Congenital Generalized, Type 1

Sources for Lipodystrophy, Congenital Generalized, Type 1

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