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Congenital generalized lipodystrophy type 1 Berardinelli-Seip syndrome 1	Contact us

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Prevalence (%) of clinical parameters based on data from 2 references describing 20 individuals

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Select symptom from list or write it in the box		Pubmed id number as a reference	Organ system affected

Number of patients in the reference	Percent affected patients (Between 0 and 1, eg. 0.1 = 10%)

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List of symptoms

Symptom/sign	Organ system	Percent affected	Pubmed id	Added on(yyyy-mm-dd)	Edit/add reference
Hepatomegaly	digestive	100 %	12362029	2014-05-29
Hypertriglyceridemia	circulatory	100 %	12362029	2014-05-29
Lipodystrophy	integumentary	100 %	12362029	2014-05-29
Muscle hypertrophy	skeletal	100 %	12362029	2014-05-29
Hirsutism	integumentary	100 %	23362058	2014-05-29
Acromegaly	skeletal	100 %	23362058	2014-05-29
Hyperinsulinemia	endocrine	67 %	23362058	2014-05-29
Diabetes mellitus type 2	endocrine	35 %	12362029	2014-05-29
Microalbuminuria	urinary	33 %	23362058	2014-05-29
Increased blood transaminase	circulatory	33 %	23362058	2014-05-29
Hypertrophic cardiomyopathy	circulatory	24 %	12362029	2014-05-29
Bone cysts	skeletal	24 %	12362029	2014-05-29
Mental retardation	nervous	12 %	12362029	2014-05-29

List of references:

Genotype-phenotype relationships in Berardinelli-Seip congenital lipodystrophy.
L Van Maldergem, J Magré, T E Khallouf, T Gedde-Dahl, M Delépine, O Trygstad, E Seemanova, T Stephenson, C S Albott, F Bonnici, V R Panz, J L Medina, P Bogalho, F Huet, S Savasta, A Verloes, J J Robert, H Loret, M De Kerdanet, N Tubiana-Rufi, A Mégarbané, J Maassen, M Polak, D Lacombe, C R Kahn, E L Silveira, F H D'Abronzo, F Grigorescu, M Lathrop, J Capeau, S O'Rahilly,

Journal of medical genetics - Oct 2002

Berardinelli-Seip syndrome: highlight of treatment challenge.
Nélia Ferraria, Cristina Pedrosa, Daniela Amaral, Lurdes Lopes,

BMJ case reports - Jan 2013