BSCL1
MCID: CNG094

Congenital Generalized Lipodystrophy Type 1 malady

Summaries for Congenital Generalized Lipodystrophy Type 1

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33OMIM, 22MalaCards
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MalaCards: Congenital Generalized Lipodystrophy Type 1, also known as berardinelli-seip congenital lipodystrophy type 1, is related to familial partial lipodystrophy and congenital generalized lipodystrophy type 2. An important gene associated with Congenital Generalized Lipodystrophy Type 1 is AGPAT2 (1-acylglycerol-3-phosphate O-acyltransferase 2 (lysophosphatidic acid acyltransferase, beta)).

OMIM: 608594

Aliases & Descriptions for Congenital Generalized Lipodystrophy Type 1

Sources:
43UMLS, 30NIH Rare Diseases, 16GeneTests, 33OMIM
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congenital generalized lipodystrophy type 1 30 16 43
berardinelli-seip congenital lipodystrophy type 1 30 16
bscl1 30 16
berardinelli-seip congenital generalized lipodystrophy type 1 16
lipodystrophy, congenital generalized, type 1 33
agpat2-related brunzell syndrome 16
lipodystrophy 43
bscl type 1 16

Related Diseases for Congenital Generalized Lipodystrophy Type 1

Sources:
13GeneCards, 14GeneDecks
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Disease types for congenital generalized lipodystrophy family:

congenital generalized lipodystrophy type 1 congenital generalized lipodystrophy type 2
congenital generalized lipodystrophy type 4 lipodystrophy, congenital generalized, type 3

Diseases related to congenital generalized lipodystrophy type 1 by text searches and GeneDecks gene sharing:

(show top 50)    (show all 78)
idRelated DiseaseScoreTop Affiliating Genes
1familial partial lipodystrophy10.0
2congenital generalized lipodystrophy type 29.3
3congenital generalized lipodystrophy8.7
4congenital generalized lipodystrophy type 48.7
5lipodystrophy, congenital generalized, type 38.1
6lipodystrophy8.1
7lipodystrophy, familial partial, type 28.0
8neuropathy7.9
9distal hereditary motor neuropathy7.7
10familial partial lipodystrophy type 37.4
11muscular dystrophy7.4
12motor neuron disease7.3
13paraplegia7.3
14spastic paraplegia7.3
15spastic paraplegia 177.3
16spasticity7.3
17barraquer-simons syndrome7.2
18distal hereditary motor neuropathy type v7.0
19insulin resistance7.0
20mandibuloacral dysplasia with type b lipodystrophy6.9
21autoinflammation, lipodystrophy, and dermatosis syndrome6.6
22atypical lipodystrophy6.6
23bscl2-related neurologic disorders/seipinopathy6.6
24corpus callosum6.6
25hereditary spastic paraplegia6.6
26mandibuloacral dysplasia6.6
27muscular atrophy6.6
28spinal muscular atrophy6.6
29atherosclerosis6.3
30familial partial lipodystrophy, kobberling type6.3
31lipoatrophic diabetes6.3
32mandibuloacral dysplasia with type a lipodystrophy6.3
33nasu-hakola disease6.3
34whipple disease6.3
35hypertriglyceridemia6.1
36neurodegeneration6.1
37silver spastic paraplegia syndrome6.1
38acanthosis nigricans6.1
39multiple symmetric lipomatosis5.7
40nephropathy5.7
41panniculitis5.7
42short syndrome5.7
43type 2 diabetes mellitus5.7
44chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature5.7
45emery-dreifuss muscular dystrophy5.7
46hyperlipidemia5.7
47jmp syndrome5.7
48charcot-marie-tooth neuropathy5.2
49cervicitis5.2
50dermatomyositis4.8

Graphical network of the top 20 diseases related to congenital generalized lipodystrophy type 1:



Graphical network of diseases related to congenital generalized lipodystrophy type 1

Clinical Features for Congenital Generalized Lipodystrophy Type 1

Sources:
33OMIM
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Clinical features from OMIM: 608594

Drugs & Therapeutics for Congenital Generalized Lipodystrophy Type 1

Sources:
4CenterWatch, 29NIH Clinical Center, 5ClinicalTrials
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Approved drugs:

Search CenterWatch for congenital generalized lipodystrophy type 1

Drug clinical trials:

Search ClinicalTrials for congenital generalized lipodystrophy type 1

Search NIH Clinical Center for congenital generalized lipodystrophy type 1

Search CenterWatch for congenital generalized lipodystrophy type 1

Genetic Tests for Congenital Generalized Lipodystrophy Type 1

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16GeneTests
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Genetic tests related to congenital generalized lipodystrophy type 1:

id Genetic test Affiliating Genes
1 Congenital Generalized Lipodystrophy Type 1
clinical/research
AGPAT2

Anatomical Context for Congenital Generalized Lipodystrophy Type 1

Phenotypes for genes affiliated with Congenital Generalized Lipodystrophy Type 1

Publications for genes affiliated with Congenital Generalized Lipodystrophy Type 1

Expression for genes affiliated with Congenital Generalized Lipodystrophy Type 1

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1BioGPS
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Expression patterns in normal tissues for genes affiliated with Congenital Generalized Lipodystrophy Type 1

Pathways for genes affiliated with Congenital Generalized Lipodystrophy Type 1

Compounds for genes affiliated with Congenital Generalized Lipodystrophy Type 1

GO Terms for genes affiliated with Congenital Generalized Lipodystrophy Type 1

Sources for Congenital Generalized Lipodystrophy Type 1

2CDC
11FMA
18HMDB
19ICD9CM
20KEGG
24MeSH
25MGI
27NCIt
28NDF-RT
31NINDS
32Novoseek
33OMIM
35PubMed
36QIAGEN
43UMLS