Berardinelli-Seip congenital lipodystrophy

Berardinelli-Seip congenital lipodystrophy (BSCL) is characterized by the association of lipoatrophy, hypertriglyceridemia, hepatomegaly and acromegaloid features. BSCL belongs to the group of extreme insulin resistance syndromes, which also includes leprechaunism, Rabson-Mendenhall syndrome, acquired generalized lipodystrophy, and types A and B insulin resistance (see these terms).



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Narrow down the case reports



Total: 60 (papers)

   


(per page)
Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
1
(48.2%)		 20598714
 N88S mutation in the BSCL2 gene in a Serbian family with distal hereditary motor neuropathy type V or Silver syndrome.
Rakocevic-Stojanovic V, Milic-Rasic V, Peric S, Baets J, Timmerman V, Dierick I, Pavlovic S, De Jonghe P.
J Neurol Sci. 2010;296(1-2):107-9.
Hyporeflexia Small hand
BSCL2
p|SUB|N|88|S;RS#:137852972
Action Potentials Adult DNA Electrodiagnosis Electromyography Females GTP-Binding Protein gamma Subunits Hereditary Motor and Sensory Neuropathies Homo sapiens Male Middle Aged Missense Mutation Motor Neurons Mutation Sensory Receptor Cells
2
(40.1%)		 6638067
 AREDYLD: a syndrome combining an acrorenal field defect, ectodermal dysplasia, lipoatrophic diabetes, and other manifestations.
Pinheiro M, Freire-Maia N, Chautard-Freire-Maia EA, Araujo LM, Liberman B.
Am J Med Genet. 1983;16(1):29-33.
Natal tooth Lumbar scoliosis
Adult Ectodermal Dysplasia Females Genes, Recessive Homo sapiens Kidney Lipoatrophic Diabetes Mellitus Syndrome
3
(32.6%)		 19430273
 Familial asymmetric distal upper limb amyotrophy (Hirayama disease): report of a Greek family.
Andreadou E, Christodoulou K, Manta P, Karandreas N, Loukaidis P, Sfagos C, Vassilopoulos D.
Neurologist. 2009;15(3):156-60.
Cervical myelopathy Distal upper limb amyotrophy
BSCL2 GARS NELFCD
p|SUB|N|88|S;RS#:137852972 p|SUB|S|90|L;RS#:137852973
Adult Family Females Greece Homo sapiens Male Middle Aged Spinal Muscular Atrophy Upper Extremity
4
(27.8%)		 26573975
 Case report: Dental management of Berardinelli-Seip congenital lipodystrophy.
Bhujel N, Clark H.
Eur Arch Paediatr Dent. 2016;17(2):137-40.
Macrodontia
Child Females Homo sapiens Malocclusion Mutation
5
(23.3%)		 18698612
(2716114)
 Novel subtype of congenital generalized lipodystrophy associated with muscular weakness and cervical spine instability.
Simha V, Agarwal AK, Aronin PA, Iannaccone ST, Garg A.
Am J Med Genet A. 2008;146A(18):2318-26.
Insulin resistance Atlantoaxial dislocation
AGPAT2 BSCL2 CAV1
Body Fat Distribution Cervical Vertebrae Child Females GTP-Binding Protein gamma Subunits Homo sapiens Male Muscle Weakness Phenotype Subcutaneous Fat Syndrome
6
(22.8%)		 29269637
(5849563)
 The First Report of a Japanese Case of Seipinopathy with a BSCL2 N88S Mutation.
Minami K, Takahashi S, Nihei Y, Oki K, Suzuki S, Ito D, Takashima H, Suzuki N.
Intern Med. 2018;57(4):613-615.
Hyperreflexia Pes cavus
BSCL2
p|SUB|N|88|S;RS#:137852972
Females GTP-Binding Protein gamma Subunits Genetic Markers Homo sapiens Japan Middle Aged Mutation Neurodegenerative Disorders
6
(22.8%)		 25454168
 Clinical and electrophysiological features in a French family presenting with seipinopathy.
Ollivier Y, Magot A, Latour P, Perrier J, Mercier S, Maisonobe T, Pereon Y.
Neuromuscul Disord. 2015;25(2):161-4.
Brisk reflexes Pes cavus
BSCL2
p|SUB|N|88|S;RS#:137852972 rs137852972
Females France GTP-Binding Protein gamma Subunits Homo sapiens Male Middle Aged Mutation Reaction Time
8
(21.2%)		 8862631
 Syndrome of lipoatrophic diabetes, vitamin D resistant rickets, and persistent Mullerian ducts in a Turkish boy born to consanguineous parents.
Van Maldergem L, Bachy A, Feldman D, Bouillon R, Maassen J, Dreyer M, Rey R, Holm C, Gillerot Y.
Am J Med Genet. 1996;64(3):506-13.
Rickets
AMH INSR VDR
rs121909798
Adult Cultured Cells Cytochrome P450 Disorders of Sex Development Females Fibroblasts Glycoproteins Growth Inhibitors Homo sapiens Infant, Newborn Insulin Insulin Receptor Insulin-Like Growth Factor I Lipoatrophic Diabetes Mellitus Male Phosphorylation RNA, Messenger Steroid Hydroxylases Syndrome Testicular Hormones Vitamin D3 24-Hydroxylase Vitamin D3 Receptor
9
(17.5%)		 30076164
 Acquired generalised lipodystrophy and type 1 diabetes mellitus in a child: a rare and implacable association.
Kumar R, Pilania RK, Bhatia A, Dayal D.
BMJ Case Rep. 2018;2018:.
Diabetes mellitus Lipodystrophy
INS
Anticholesteremic Agents Child Diabetes Mellitus, Insulin-Dependent Homo sapiens Hypoglycemic Agents Insulin Insulin Resistance Magnetic Resonance Imaging Male X-Ray Computed Tomography
9
(17.5%)		 26176221
(4503302)
 A Frame-Shift Mutation in CAV1 Is Associated with a Severe Neonatal Progeroid and Lipodystrophy Syndrome.
Schrauwen I, Szelinger S, Siniard AL, Kurdoglu A, Corneveaux JJ, Malenica I, Richholt R, Van Camp G, De Both M, Swaminathan S, Turk M, Ramsey K, Craig DW, Narayanan V, Huentelman MJ.
PLoS One. 2015;10(7):e0131797.
Hypertension Lipodystrophy
p|SUB|F|160|X
Acyltransferase Child, Preschool Codon, Nonsense Females Fetal Growth Retardation High-Throughput Nucleotide Sequencing Homo sapiens Phenotype Phosphatidate Phosphatase Progeria Sequence Analysis, RNA Severity of Illness Index
        

Phenotype(s) retrieved from Orphanet

    Total: 77

HPO ID Term Frequency
HP:0000303 Mandibular prognathia Very frequent (99-80%)
HP:0000336 Prominent supraorbital ridges Very frequent (99-80%)
HP:0000842 Hyperinsulinemia Very frequent (99-80%)
HP:0000855 Insulin resistance Very frequent (99-80%)
HP:0001072 Thickened skin Very frequent (99-80%)
HP:0001176 Large hands Very frequent (99-80%)
HP:0001760 Abnormality of the foot Very frequent (99-80%)
HP:0001769 Broad foot Very frequent (99-80%)
HP:0002155 Hypertriglyceridemia Very frequent (99-80%)
HP:0002240 Hepatomegaly Very frequent (99-80%)
HP:0003712 Skeletal muscle hypertrophy Very frequent (99-80%)
HP:0005616 Accelerated skeletal maturation Very frequent (99-80%)
HP:0009125 Lipodystrophy Very frequent (99-80%)
HP:0100578 Lipoatrophy Very frequent (99-80%)
HP:0000826 Precocious puberty Frequent (79-30%)
HP:0000845 Growth hormone excess Frequent (79-30%)
HP:0000975 Hyperhidrosis Frequent (79-30%)
HP:0001000 Abnormality of skin pigmentation Frequent (79-30%)
HP:0001249 Intellectual disability Frequent (79-30%)
HP:0001324 Muscle weakness Frequent (79-30%)
HP:0001371 Flexion contracture Frequent (79-30%)
HP:0001399 Hepatic failure Frequent (79-30%)
HP:0001595 Abnormal hair morphology Frequent (79-30%)
HP:0001639 Hypertrophic cardiomyopathy Frequent (79-30%)
HP:0001962 Palpitations Frequent (79-30%)
HP:0002230 Generalized hirsutism Frequent (79-30%)
HP:0002621 Atherosclerosis Frequent (79-30%)
HP:0002750 Delayed skeletal maturation Frequent (79-30%)
HP:0002910 Elevated hepatic transaminase Frequent (79-30%)
HP:0003198 Myopathy Frequent (79-30%)
HP:0003326 Myalgia Frequent (79-30%)
HP:0003552 Muscle stiffness Frequent (79-30%)
HP:0003635 Loss of subcutaneous adipose tissue in limbs Frequent (79-30%)
HP:0003738 Exercise-induced myalgia Frequent (79-30%)
HP:0005184 Prolonged QTc interval Frequent (79-30%)
HP:0009073 Progressive proximal muscle weakness Frequent (79-30%)
HP:0012062 Bone cyst Frequent (79-30%)
HP:0040081 Abnormal circulating creatine kinase concentration Frequent (79-30%)
HP:0000083 Renal insufficiency Occasional (29-5%)
HP:0000112 Nephropathy Occasional (29-5%)
HP:0000147 Polycystic ovaries Occasional (29-5%)
HP:0000163 Abnormal oral cavity morphology Occasional (29-5%)
HP:0000819 Diabetes mellitus Occasional (29-5%)
HP:0000869 Secondary amenorrhea Occasional (29-5%)
HP:0000876 Oligomenorrhea Occasional (29-5%)
HP:0000938 Osteopenia Occasional (29-5%)
HP:0000939 Osteoporosis Occasional (29-5%)
HP:0000956 Acanthosis nigricans Occasional (29-5%)
HP:0001007 Hirsutism Occasional (29-5%)
HP:0001394 Cirrhosis Occasional (29-5%)
HP:0001397 Hepatic steatosis Occasional (29-5%)
HP:0001508 Failure to thrive Occasional (29-5%)
HP:0001635 Congestive heart failure Occasional (29-5%)
HP:0001658 Myocardial infarction Occasional (29-5%)
HP:0001662 Bradycardia Occasional (29-5%)
HP:0001714 Ventricular hypertrophy Occasional (29-5%)
HP:0001733 Pancreatitis Occasional (29-5%)
HP:0001744 Splenomegaly Occasional (29-5%)
HP:0002021 Pyloric stenosis Occasional (29-5%)
HP:0002092 Pulmonary arterial hypertension Occasional (29-5%)
HP:0002119 Ventriculomegaly Occasional (29-5%)
HP:0002650 Scoliosis Occasional (29-5%)
HP:0002719 Recurrent infections Occasional (29-5%)
HP:0002721 Immunodeficiency Occasional (29-5%)
HP:0002757 Recurrent fractures Occasional (29-5%)
HP:0003306 Spinal rigidity Occasional (29-5%)
HP:0003307 Hyperlordosis Occasional (29-5%)
HP:0003414 Atlantoaxial dislocation Occasional (29-5%)
HP:0005110 Atrial fibrillation Occasional (29-5%)
HP:0009830 Peripheral neuropathy Occasional (29-5%)
HP:0011675 Arrhythmia Occasional (29-5%)
HP:0012084 Abnormality of skeletal muscle fiber size Occasional (29-5%)
HP:0100545 Arterial stenosis Occasional (29-5%)
HP:0100607 Dysmenorrhea Occasional (29-5%)
HP:0100820 Glomerulopathy Occasional (29-5%)
HP:0000824 Growth hormone deficiency Very rare (4-1%)
HP:0002720 Decreased circulating IgA level Very rare (4-1%)


Phenotype(s) retrieved from case reports

    Total: 30

HPO ID Term # of case reports
HP:0000855 Insulin resistance 9
HP:0009125 Lipodystrophy 6
HP:0100578 Lipoatrophy 6
HP:0000831 Insulin-resistant diabetes mellitus 3
HP:0002155 Hypertriglyceridemia 3
HP:0000819 Diabetes mellitus 2
HP:0000956 Acanthosis nigricans 2
HP:0001433 Hepatosplenomegaly 2
HP:0002240 Hepatomegaly 2
HP:0009064 Generalized lipodystrophy 2
HP:0000695 Natal tooth 1
HP:0000836 Hyperthyroidism 1
HP:0001258 Spastic paraplegia 1
HP:0001394 Cirrhosis 1
HP:0001513 Obesity 1
HP:0001638 Cardiomyopathy 1
HP:0001682 Subvalvular aortic stenosis 1
HP:0001993 Ketoacidosis 1
HP:0002571 Achalasia 1
HP:0002621 Atherosclerosis 1
HP:0002748 Rickets 1
HP:0002875 Exertional dyspnea 1
HP:0003074 Hyperglycemia 1
HP:0003077 Hyperlipidemia 1
HP:0004322 Short stature 1
HP:0004528 Generalized hypotrichosis 1
HP:0004626 Lumbar scoliosis 1
HP:0007485 Absence of subcutaneous fat 1
HP:0012115 Hepatitis 1
HP:0100774 Hyperostosis 1


Causative gene(s) retrieved from Orphanet

    Total: 6

Gene Symbol Gene Name Entrez Gene ID
CAVIN1 caveolae associated protein 1 284119
PPARG peroxisome proliferator activated receptor gamma 5468
BSCL2 BSCL2 lipid droplet biogenesis associated, seipin 26580
AGPAT2 1-acylglycerol-3-phosphate O-acyltransferase 2 10555
CAV1 caveolin 1 857
FOS Fos proto-oncogene, AP-1 transcription factor subunit 2353