MCID: LPD032
MIFTS: 35

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 49 11
Berardinelli-Seip Congenital Lipodystrophy Type 1 45 22 67
Bscl1 45 22 67
Congenital Generalized Lipodystrophy Type 1 45 65
Congenital Generalized Lipodystrophy 1 67 24
Berardinelli-Seip Congenital Generalized Lipodystrophy Type 1 22
Total Lipodystrophy and Acromegaloid Gigantism 67
Familial Partial Lipodystrophy, Type 2 65
Familial Generalized Lipodystrophy 65
 
Brunzell Syndrome, Agpat2-Related 45
Agpat2-Related Brunzell Syndrome 22
Brunzell Syndrome Agpat2-Related 67
Lipodystrophy Berardinelli Type 67
Lipoatrophic Diabetes Mellitus 65
Berardinelli-Seip Syndrome 67
Lipoatrophic Diabetes 67
Bscl Type 1 22
Cgl1 67

Characteristics:

HPO:

61
lipodystrophy, congenital generalized, type 1:
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM49 608594
MedGen34 C1720862
MeSH36 D052497
UMLS65 C1720862, C0221032

Summaries for Lipodystrophy, Congenital Generalized, Type 1

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OMIM:49 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, familial partial, 2 and congenital generalized lipodystrophy, 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, bone and skin, and related mouse phenotypes are limbs/digits/tail and adipose tissue.

UniProtKB/Swiss-Prot:67 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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Diseases in the Acquired Generalized Lipodystrophy family:

Lipodystrophy, Congenital Generalized, Type 3 lipodystrophy, congenital generalized, type 1
Lipodystrophy, Congenital Generalized, Type 2 Lipodystrophy, Congenital Generalized, Type 4
Congenital Generalized Lipodystrophy

Diseases related to Lipodystrophy, Congenital Generalized, Type 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 75)
idRelated DiseaseScoreTop Affiliating Genes
1lipodystrophy, familial partial, 212.1
2congenital generalized lipodystrophy12.0
3aredyld12.0
4lipodystrophy, congenital generalized, type 211.7
5acquired generalized lipodystrophy11.6
6typhus10.2
7melanoma10.2
8leiomyomatosis10.2
9cardiomyopathy10.2
10endotheliitis10.2
11rheumatoid arthritis10.1
12gastrointestinal stromal tumor10.1
13myocardial infarction10.1
14prostate cancer10.1
15crigler-najjar syndrome, type ii10.1
16renal cell carcinoma10.1
17leprosy10.1
18alzheimer disease10.1
19argininosuccinic aciduria10.1
20arthritis10.1
21gastric cancer10.1
22leukemia10.1
23restless legs syndrome10.1
24epidemic typhus10.1
25congenital adrenal hyperplasia10.1
26colorectal adenocarcinoma10.1
27mucosal melanoma10.1
28autism spectrum disorder10.1
29form agnosia10.1
30borderline leprosy10.1
31nasopharyngitis10.1
32multiple personality disorder10.1
33spotted fever10.1
34frey syndrome10.1
35pancytopenia10.1
36endomyocardial fibrosis10.1
37scrub typhus10.1
38congenital dyserythropoietic anemia10.1
39down syndrome10.1
40prostatitis10.1
41candidiasis10.1
42personality disorder10.1
43rheumatic fever10.1
44endodermal sinus tumor10.1
45leiomyosarcoma10.1
46vulvovaginal candidiasis10.1
47vulvovaginitis10.1
48gangliosidosis10.1
49myoma10.1
50adenocarcinoma10.1

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



Diseases related to lipodystrophy, congenital generalized, type 1

Symptoms for Lipodystrophy, Congenital Generalized, Type 1

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Symptoms by clinical synopsis from OMIM:

608594

Clinical features from OMIM:

608594

HPO human phenotypes related to Lipodystrophy, Congenital Generalized, Type 1:

(show all 27)
id Description Frequency HPO Source Accession
1 clitoral hypertrophy HP:0000057
2 labial hypertrophy HP:0000065
3 tall stature HP:0000098
4 polycystic ovaries HP:0000147
5 mandibular prognathia HP:0000303
6 hyperinsulinemia HP:0000842
7 decreased fertility in females HP:0000868
8 insulin-resistant diabetes mellitus at puberty HP:0000877
9 acanthosis nigricans HP:0000956
10 hirsutism HP:0001007
11 large hands HP:0001176
12 cirrhosis HP:0001394
13 hepatic steatosis HP:0001397
14 umbilical hernia HP:0001537
15 prominent umbilicus HP:0001544
16 acute pancreatitis HP:0001735
17 splenomegaly HP:0001744
18 long foot HP:0001833
19 hypertriglyceridemia HP:0002155
20 hepatomegaly HP:0002240
21 polyphagia HP:0002591
22 cystic angiomatosis of bone HP:0002833
23 decreased serum leptin HP:0003292
24 generalized muscular appearance from birth HP:0003716
25 nearly complete absence of metabolically active adipose tissue (subcutaneous, intraabdominal, intrathoracic) HP:0003809
26 accelerated skeletal maturation HP:0005616
27 lipodystrophy HP:0009125

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

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 Berardinelli-Seip Congenital Lipodystrophy Type 122 AGPAT2

Anatomical Context for Lipodystrophy, Congenital Generalized, Type 1

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

33
Ovary, Bone, Skin

Animal Models for Lipodystrophy, Congenital Generalized, Type 1 or affiliated genes

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

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053719.5AGPAT2, LMNA
2MP:00053759.4AGPAT2, LMNA

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:

67
id Symbol AA change Variation ID SNP ID
1AGPAT2p.Ala239ValVAR_017325rs145975461
2AGPAT2p.Leu228ProVAR_017327
3AGPAT2p.Gly136ArgVAR_017328

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

5 (show all 12)
id Gene Variation Type Significance SNP ID Assembly Location
1LMNANM_170707.3(LMNA): c.1445G> A (p.Arg482Gln)single nucleotide variantPathogenicrs11575937GRCh37Chr 1, 156106776: 156106776
2LMNANM_170707.3(LMNA): c.398G> T (p.Arg133Leu)single nucleotide variantPathogenicrs60864230GRCh37Chr 1, 156100449: 156100449
3AGPAT2NM_006412.3(AGPAT2): c.406G> A (p.Gly136Arg)single nucleotide variantPathogenicrs797045222GRCh38Chr 9, 136677047: 136677047
4AGPAT2NM_006412.3(AGPAT2): c.202C> T (p.Arg68Ter)single nucleotide variantPathogenicrs104894093GRCh37Chr 9, 139571989: 139571989
5AGPAT2NM_006412.3(AGPAT2): c.589-2A> Gsingle nucleotide variantPathogenicrs116807569GRCh38Chr 9, 136674809: 136674809
6AGPAT2NM_006412.3(AGPAT2): c.377dupT (p.Pro128Alafs)duplicationPathogenicrs387906355GRCh37Chr 9, 139571528: 139571528
7AGPAT2NM_006412.3(AGPAT2): c.683T> C (p.Leu228Pro)single nucleotide variantPathogenicrs104894100GRCh37Chr 9, 139568358: 139568358
8AGPAT2NM_006412.3(AGPAT2): c.418_420delTTC (p.Phe140del)deletionPathogenicrs387906356GRCh37Chr 9, 139571485: 139571487
9AGPAT2NM_006412.3(AGPAT2): c.643A> T (p.Lys215Ter)single nucleotide variantPathogenicrs121908925GRCh37Chr 9, 139569205: 139569205
10AGPAT2NM_006412.3(AGPAT2): c.493-1G> Csingle nucleotide variantPathogenicrs606231168GRCh38Chr 9, 136676681: 136676681
11AGPAT2NM_006412.3(AGPAT2): c.570C> A (p.Tyr190Ter)single nucleotide variantPathogenicrs121908926GRCh37Chr 9, 139571055: 139571055
12AGPAT2NM_001012727.1(AGPAT2): c.366_492+910del1037deletionPathogenicGRCh37Chr 9, 139570503: 139571539

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
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet