MCID: LPD032
MIFTS: 33

Lipodystrophy, Congenital Generalized, Type 1 malady

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

Aliases & Classifications for Lipodystrophy, Congenital Generalized, Type 1

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

Name: Lipodystrophy, Congenital Generalized, Type 1 52 12
Berardinelli-Seip Congenital Lipodystrophy Type 1 48 24 70
Bscl1 48 24 70
Congenital Generalized Lipodystrophy Type 1 48 68
Congenital Generalized Lipodystrophy 1 70 27
Berardinelli-Seip Congenital Generalized Lipodystrophy Type 1 24
Total Lipodystrophy and Acromegaloid Gigantism 70
Familial Partial Lipodystrophy, Type 2 68
Lipodystrophy, Congenital Generalized 39
Familial Generalized Lipodystrophy 68
 
Brunzell Syndrome, Agpat2-Related 48
Agpat2-Related Brunzell Syndrome 24
Brunzell Syndrome Agpat2-Related 70
Lipodystrophy Berardinelli Type 70
Lipoatrophic Diabetes Mellitus 68
Berardinelli-Seip Syndrome 70
Lipoatrophic Diabetes 70
Bscl Type 1 24
Cgl1 70

Characteristics:

HPO:

64
lipodystrophy, congenital generalized, type 1:
Inheritance: autosomal recessive inheritance

Classifications:



External Ids:

OMIM52 608594
MedGen37 C1720862
MeSH39 D052497

Summaries for Lipodystrophy, Congenital Generalized, Type 1

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OMIM:52 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 berardinelli-seip congenital lipodystrophy type 1, is related to lipodystrophy, congenital generalized, type 4 and lipodystrophy, congenital generalized, type 3, and has symptoms including clitoral hypertrophy, labial hypertrophy and tall stature. An important gene associated with Lipodystrophy, Congenital Generalized, Type 1 is AGPAT2 (1-Acylglycerol-3-Phosphate O-Acyltransferase 2), and among its related pathways is Adipogenesis. Affiliated tissues include ovary and bone, and related mouse phenotypes are Decreased shRNA abundance (Z-score < -2) and adipose tissue.

UniProtKB/Swiss-Prot:70 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

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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

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Symptoms by clinical synopsis from OMIM:

608594

Clinical features from OMIM:

608594

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

 64 (show all 27)
id Description HPO Frequency HPO Source Accession
1 clitoral hypertrophy64 HP:0000057
2 labial hypertrophy64 HP:0000065
3 tall stature64 HP:0000098
4 polycystic ovaries64 HP:0000147
5 mandibular prognathia64 HP:0000303
6 hyperinsulinemia64 HP:0000842
7 decreased fertility in females64 HP:0000868
8 insulin-resistant diabetes mellitus at puberty64 HP:0000877
9 acanthosis nigricans64 HP:0000956
10 hirsutism64 HP:0001007
11 large hands64 HP:0001176
12 cirrhosis64 HP:0001394
13 hepatic steatosis64 HP:0001397
14 umbilical hernia64 HP:0001537
15 prominent umbilicus64 HP:0001544
16 acute pancreatitis64 HP:0001735
17 splenomegaly64 HP:0001744
18 long foot64 HP:0001833
19 hypertriglyceridemia64 HP:0002155
20 hepatomegaly64 HP:0002240
21 polyphagia64 HP:0002591
22 cystic angiomatosis of bone64 HP:0002833
23 decreased serum leptin64 HP:0003292
24 generalized muscular appearance from birth64 HP:0003716
25 nearly complete absence of metabolically active adipose tissue (subcutaneous, intraabdominal, intrathoracic)64 HP:0003809
26 accelerated skeletal maturation64 HP:0005616
27 lipodystrophy64 HP:0009125

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


hepatomegaly, myalgia

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

26
idDescriptionGenomeRNAi Source AccessionScoreTop Affiliating Genes
1GR00366-A-588.5AGPAT2, LMNA, AGPAT2, LMNA

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

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000537510.0AGPAT2, LMNA
2MP:000538210.0AGPAT2, LMNA
3MP:00053719.1AGPAT2, LMNA

Drugs & Therapeutics for Lipodystrophy, Congenital Generalized, Type 1

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Interventional clinical trials:

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


Cochrane evidence based reviews: lipodystrophy, congenital generalized

Genetic Tests for Lipodystrophy, Congenital Generalized, Type 1

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

id Genetic test Affiliating Genes
1 Congenital Generalized Lipodystrophy Type 127
2 Berardinelli-Seip Congenital Lipodystrophy Type 124 AGPAT2

Anatomical Context for Lipodystrophy, Congenital Generalized, Type 1

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

36
Ovary, Bone

Publications for Lipodystrophy, Congenital Generalized, Type 1

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Variations for Lipodystrophy, Congenital Generalized, Type 1

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

70
id Symbol AA change Variation ID SNP ID
1AGPAT2p.Ala239ValVAR_017325rs145975461
2AGPAT2p.Leu228ProVAR_017327rs104894100
3AGPAT2p.Gly136ArgVAR_017328rs797045222

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

5 (show all 24)
id Gene Variation Type Significance SNP ID Assembly Location
1LMNANM_170707.3(LMNA): c.178C> G (p.Arg60Gly)SNVPathogenicrs28928900GRCh37Chr 1, 156084887: 156084887
2LMNANM_170707.3(LMNA): c.1580G> C (p.Arg527Pro)SNVPathogenicrs57520892GRCh37Chr 1, 156106995: 156106995
3LMNANM_170707.3(LMNA): c.1445G> A (p.Arg482Gln)SNVPathogenicrs11575937GRCh37Chr 1, 156106776: 156106776
4LMNANM_170707.3(LMNA): c.398G> T (p.Arg133Leu)SNVPathogenicrs60864230GRCh37Chr 1, 156100449: 156100449
5LMNANM_005572.3(LMNA): c.1444C> T (p.Arg482Trp)SNVPathogenicrs57920071GRCh37Chr 1, 156106775: 156106775
6LMNANM_170707.3(LMNA): c.1445G> T (p.Arg482Leu)SNVPathogenicrs11575937GRCh37Chr 1, 156106776: 156106776
7LMNANM_170707.3(LMNA): c.1394G> A (p.Gly465Asp)SNVPathogenicrs61282106GRCh37Chr 1, 156106725: 156106725
8LMNANM_170707.3(LMNA): c.1745G> A (p.Arg582His)SNVPathogenicrs57830985GRCh37Chr 1, 156108325: 156108325
9LMNANM_170707.3(LMNA): c.688G> A (p.Asp230Asn)SNVPathogenicrs61214927GRCh37Chr 1, 156104644: 156104644
10LMNANM_170707.3(LMNA): c.1072G> A (p.Glu358Lys)SNVPathogenicrs60458016GRCh37Chr 1, 156105827: 156105827
11AGPAT2NM_006412.3(AGPAT2): c.406G> A (p.Gly136Arg)SNVPathogenicrs797045222GRCh38Chr 9, 136677047: 136677047
12AGPAT2NM_006412.3(AGPAT2): c.282delC (p.Ile94Metfs)deletionPathogenicrs886043265GRCh37Chr 9, 139571909: 139571909
13AGPAT2NM_006412.3(AGPAT2): c.202C> T (p.Arg68Ter)SNVPathogenicrs104894093GRCh37Chr 9, 139571989: 139571989
14AGPAT2NM_006412.3(AGPAT2): c.589-2A> GSNVPathogenicrs116807569GRCh38Chr 9, 136674809: 136674809
15AGPAT2NM_006412.3(AGPAT2): c.377dupT (p.Pro128Alafs)duplicationPathogenicrs387906355GRCh37Chr 9, 139571528: 139571528
16AGPAT2NM_006412.3(AGPAT2): c.683T> C (p.Leu228Pro)SNVPathogenicrs104894100GRCh37Chr 9, 139568358: 139568358
17AGPAT2NM_006412.3(AGPAT2): c.418_420delTTC (p.Phe140del)deletionPathogenicrs387906356GRCh37Chr 9, 139571485: 139571487
18AGPAT2NM_006412.3(AGPAT2): c.643A> T (p.Lys215Ter)SNVPathogenicrs121908925GRCh37Chr 9, 139569205: 139569205
19AGPAT2NM_006412.3(AGPAT2): c.493-1G> CSNVPathogenicrs606231168GRCh38Chr 9, 136676681: 136676681
20AGPAT2NM_006412.3(AGPAT2): c.570C> A (p.Tyr190Ter)SNVPathogenicrs121908926GRCh37Chr 9, 139571055: 139571055
21AGPAT2NM_001012727.1(AGPAT2): c.366_492+910del1037deletionPathogenicGRCh37Chr 9, 139570503: 139571539
22LMNANM_005572.3(LMNA): c.1458G> T (p.Lys486Asn)SNVPathogenicrs59981161GRCh37Chr 1, 156106789: 156106789
23LMNANM_170707.3(LMNA): c.1488+5G> CSNVPathogenicrs267607543GRCh37Chr 1, 156106824: 156106824
24LMNANM_170707.3(LMNA): c.1961dupG (p.Thr655Asnfs)duplicationPathogenicrs863225024GRCh37Chr 1, 156108541: 156108541

Expression for genes affiliated with Lipodystrophy, Congenital Generalized, Type 1

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

Pathways for genes affiliated with Lipodystrophy, Congenital Generalized, Type 1

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

idSuper pathwaysScoreTop Affiliating Genes
19.1AGPAT2, LMNA

GO Terms for genes affiliated with Lipodystrophy, Congenital Generalized, Type 1

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Sources for Lipodystrophy, Congenital Generalized, Type 1

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet