MCID: LPD033
MIFTS: 35

Lipodystrophy, Congenital Generalized, Type 2 malady

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

Aliases & Classifications for Lipodystrophy, Congenital Generalized, Type 2

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

Name: Lipodystrophy, Congenital Generalized, Type 2 49 11
Berardinelli-Seip Congenital Lipodystrophy Type 2 22 67
Total Lipodystrophy and Acromegaloid Gigantism 45 67
Congenital Generalized Lipodystrophy Type 2 45 65
Congenital Generalized Lipodystrophy 2 67 24
Berardinelli-Seip Congenital Generalized Lipodystrophy Type 2 22
Berardinelli Seip Congenital Lipodystrophy Type 2 45
Familial Partial Lipodystrophy, Type 2 65
Familial Generalized Lipodystrophy 65
Congenital Lipoatrophic Diabetes 45
Bscl2-Related Brunzell Syndrome 22
 
Brunzell Syndrome Bscl2-Related 67
Lipodystrophy Berardinelli Type 67
Lipoatrophic Diabetes Mellitus 65
Berardinelli-Seip Syndrome 67
Berardinelli Syndrome 45
Lipoatrophic Diabetes 67
Brunzell Syndrome 45
Seip Syndrome 45
Bscl Type 2 22
Bscl2 22
Cgl2 67

Characteristics:

HPO:

61
lipodystrophy, congenital generalized, type 2:
Onset and clinical course: congenital onset
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM49 269700
MedGen34 C1720863
MeSH36 D052497
UMLS65 C1720863, C0221032

Summaries for Lipodystrophy, Congenital Generalized, Type 2

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OMIM:49 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 lipodystrophy, familial partial, 2 and aredyld, and has symptoms including lipodystrophy, accelerated skeletal maturation and nearly complete absence of metabolically active adipose tissue (subcutaneous, intraabdominal, intrathoracic). An important gene associated with Lipodystrophy, Congenital Generalized, Type 2 is BSCL2 (Berardinelli-Seip Congenital Lipodystrophy 2 (Seipin)), and among its related pathways is Adipogenesis. Affiliated tissues include ovary, bone and skin.

UniProtKB/Swiss-Prot:67 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

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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 2 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 89)
idRelated DiseaseScoreTop Affiliating Genes
1lipodystrophy, familial partial, 212.1
2aredyld12.0
3severe neurodegenerative syndrome with lipodystrophy11.9
4lipodystrophy11.7
5lipodystrophy, congenital generalized, type 111.6
6acquired generalized lipodystrophy11.6
7congenital generalized lipodystrophy11.6
8typhus10.2
9melanoma10.2
10leiomyomatosis10.2
11cardiomyopathy10.2
12endotheliitis10.2
13rheumatoid arthritis10.1
14gastrointestinal stromal tumor10.1
15myocardial infarction10.1
16prostate cancer10.1
17crigler-najjar syndrome, type ii10.1
18renal cell carcinoma10.1
19leprosy10.1
20alzheimer disease10.1
21argininosuccinic aciduria10.1
22arthritis10.1
23gastric cancer10.1
24leukemia10.1
25restless legs syndrome10.1
26epidemic typhus10.1
27congenital adrenal hyperplasia10.1
28colorectal adenocarcinoma10.1
29mucosal melanoma10.1
30autism spectrum disorder10.1
31form agnosia10.1
32borderline leprosy10.1
33nasopharyngitis10.1
34multiple personality disorder10.1
35spotted fever10.1
36frey syndrome10.1
37pancytopenia10.1
38endomyocardial fibrosis10.1
39scrub typhus10.1
40congenital dyserythropoietic anemia10.1
41down syndrome10.1
42prostatitis10.1
43candidiasis10.1
44personality disorder10.1
45rheumatic fever10.1
46endodermal sinus tumor10.1
47leiomyosarcoma10.1
48vulvovaginal candidiasis10.1
49vulvovaginitis10.1
50gangliosidosis10.1

Graphical network of the top 20 diseases related to Lipodystrophy, Congenital Generalized, Type 2:



Diseases related to lipodystrophy, congenital generalized, type 2

Symptoms for Lipodystrophy, Congenital Generalized, Type 2

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Symptoms by clinical synopsis from OMIM:

269700

Clinical features from OMIM:

269700

HPO human phenotypes related to Lipodystrophy, Congenital Generalized, Type 2:

(show all 30)
id Description Frequency HPO Source Accession
1 lipodystrophy HP:0009125
2 accelerated skeletal maturation HP:0005616
3 nearly complete absence of metabolically active adipose tissue (subcutaneous, intraabdominal, intrathoracic) HP:0003809
4 generalized muscular appearance from birth HP:0003716
5 decreased serum leptin HP:0003292
6 cystic angiomatosis of bone HP:0002833
7 polyphagia HP:0002591
8 hepatomegaly HP:0002240
9 hypertriglyceridemia HP:0002155
10 long foot HP:0001833
11 splenomegaly HP:0001744
12 acute pancreatitis HP:0001735
13 hypertrophic cardiomyopathy HP:0001639
14 prominent umbilicus HP:0001544
15 umbilical hernia HP:0001537
16 hepatic steatosis HP:0001397
17 cirrhosis HP:0001394
18 intellectual disability, mild HP:0001256
19 large hands HP:0001176
20 hirsutism HP:0001007
21 acanthosis nigricans HP:0000956
22 insulin-resistant diabetes mellitus at puberty HP:0000877
23 decreased fertility in females HP:0000868
24 hyperinsulinemia HP:0000842
25 mandibular prognathia HP:0000303
26 polycystic ovaries HP:0000147
27 decreased fertility HP:0000144
28 tall stature HP:0000098
29 labial hypertrophy HP:0000065
30 clitoral hypertrophy HP:0000057

Drugs & Therapeutics for Lipodystrophy, Congenital Generalized, Type 2

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Lipodystrophy, Congenital Generalized, Type 2

Genetic Tests for Lipodystrophy, Congenital Generalized, Type 2

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Genetic tests related to Lipodystrophy, Congenital Generalized, Type 2:

id Genetic test Affiliating Genes
1 Berardinelli-Seip Congenital Lipodystrophy Type 222 BSCL2

Anatomical Context for Lipodystrophy, Congenital Generalized, Type 2

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

33
Ovary, Bone, Skin

Animal Models for Lipodystrophy, Congenital Generalized, Type 2 or affiliated genes

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

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes

Publications for Lipodystrophy, Congenital Generalized, Type 2

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Variations for Lipodystrophy, Congenital Generalized, Type 2

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

67
id Symbol AA change Variation ID SNP ID
1BSCL2p.Ala212ProVAR_022377

Clinvar genetic disease variations for Lipodystrophy, Congenital Generalized, Type 2:

5 (show all 16)
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
3NM_032667.6(BSCL2): c.192_193delCCinsGGA (p.Ser64Argfs)indelPathogenicrs786205068GRCh38Chr 11, 62705320: 62705321
4NM_032667.6(BSCL2): c.301_302insAA (p.Met101Lysfs)insertionPathogenicrs786205069GRCh38Chr 11, 62694704: 62694705
5NM_032667.6(BSCL2): c.315_316delGT (p.Tyr106Serfs)deletionPathogenicrs786205070GRCh38Chr 11, 62694690: 62694691
6BSCL2BSCL2, 258-BP DEL/12-BP INSindelPathogenic
7NM_001122955.3(BSCL2): c.509_513delATCGT (p.Tyr170Cysfs)deletionPathogenicrs587777608GRCh38Chr 11, 62694685: 62694689
8NM_032667.6(BSCL2): c.325dupA (p.Thr109Asnfs)duplicationPathogenicrs786205071GRCh38Chr 11, 62694681: 62694681
9NM_001122955.3(BSCL2): c.604C> T (p.Arg202Ter)single nucleotide variantPathogenicrs137852970GRCh37Chr 11, 62462066: 62462066
10BSCL2BSCL2, IVS4, G-A, +1single nucleotide variantPathogenic
11NM_001122955.3(BSCL2): c.826G> C (p.Ala276Pro)single nucleotide variantPathogenicrs137852971GRCh37Chr 11, 62459885: 62459885
12NM_032667.6(BSCL2): c.636delC (p.Tyr213Thrfs)deletionPathogenicrs758843908GRCh38Chr 11, 62692411: 62692411
13NM_032667.6(BSCL2): c.671+5G> Asingle nucleotide variantPathogenicrs786205072GRCh38Chr 11, 62692371: 62692371
14NM_032667.6(BSCL2): c.672-3C> Gsingle nucleotide variantPathogenicrs786205073GRCh38Chr 11, 62691424: 62691424
15NM_001122955.3(BSCL2): c.1015C> T (p.Arg339Ter)single nucleotide variantPathogenicrs137852974GRCh37Chr 11, 62458604: 62458604
16NM_032667.6(BSCL2): c.565G> T (p.Glu189Ter)single nucleotide variantPathogenicrs137852975GRCh37Chr 11, 62460143: 62460143

Expression for genes affiliated with Lipodystrophy, Congenital Generalized, Type 2

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Search GEO for disease gene expression data for Lipodystrophy, Congenital Generalized, Type 2.

Pathways for genes affiliated with Lipodystrophy, Congenital Generalized, Type 2

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

idSuper pathwaysScoreTop Affiliating Genes
19.3BSCL2, LMNA

GO Terms for genes affiliated with Lipodystrophy, Congenital Generalized, Type 2

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Sources for Lipodystrophy, Congenital Generalized, Type 2

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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