MSeqDR Mitochondrial Disease Portal


 
*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
  Most Studied  CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, Myopathy, SANDO
Term ID:7087
Name:Lipodystrophy, Congenital Generalized
Definition:Congenital disorders, usually autosomal recessive, characterized by severe generalized lack of ADIPOSE TISSUE, extreme INSULIN RESISTANCE, and HYPERTRIGLYCERIDEMIA.
Alternative IDs:OMIM:269700|OMIM:608594
ParentIDs:MESH:D008052|MESH:D008060
TreeNumbers:C16.320.565.398.745 |C17.800.849.391.550 |C18.452.584.625.550 |C18.452.648.398.745 |C18.452.880.391.550
Synonyms:AGPAT2-Related Brunzell Syndrome |Berardinelli Seip Congenital Lipodystrophy |Berardinelli-Seip Congenital Lipodystrophy |Berardinelli Seip Congenital Lipodystrophy Type 1 |Berardinelli Seip Congenital Lipodystrophy, Type 1 |Berardinelli-Seip Congenital Lipod
Slim Mappings:Genetic disease (inborn)|Metabolic disease|Skin disease
Reference: MedGen: D052497
MeSH: D052497
OMIM: 608594;
MSeqDR LSDB:  
Genes: AGPAT2; BSCL2;
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0000956Acanthosis nigricans
3 HP:0005616Accelerated skeletal maturation
4 HP:0001735Acute pancreatitis
5 HP:0001638CardiomyopathyHP:0040283
6 HP:0001394Cirrhosis
NAMDC:  Cirrhosis
7 HP:0008665Clitoral hypertrophy
8 HP:0002833Cystic angiomatosis of bone
9 HP:0000868Decreased fertility in females
10 HP:0003292Decreased serum leptin
11 HP:0002910Elevated hepatic transaminases
12 HP:0003716Generalized muscular appearance from birth
13 HP:0001397Hepatic steatosis
NAMDC:  Hepatopathy with steatosis or oncocytic changes by liver biopsy
14 HP:0002240Hepatomegaly
15 HP:0001425Heterogeneous
16 HP:0001007Hirsutism
17 HP:0000842Hyperinsulinemia
18 HP:0002155Hypertriglyceridemia
19 HP:0000877Insulin-resistant diabetes mellitus at puberty
20 HP:0000065Labial hypertrophy
21 HP:0001176Large hands
22 HP:0009125Lipodystrophy
23 HP:0001833Long foot
24 HP:0000400Macrotia
25 HP:0000303Mandibular prognathia
26 HP:0000787Nephrolithiasis
27 HP:0000147Polycystic ovaries
28 HP:0002591Polyphagia
29 HP:0001544Prominent umbilicus
30 HP:0003809Reduced intrathoracic adipose tissue
31 HP:0001744Splenomegaly
32 HP:0000098Tall stature
33 HP:0000325Triangular face
34 HP:0001537Umbilical hernia
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_006412.3(AGPAT2):c.755_763del9 (p.Met252_Thr254del)10555AGPAT2Pathogenic1057517656RCV000412504; NMedGen:C1720862,OMIM:6085949139568278139568286-
NM_006412.3(AGPAT2):c.713C>G (p.Ala238Gly)10555AGPAT2Pathogenic200656731RCV000412633; NMedGen:C1720862,OMIM:6085949139568328139568328-C1720862 608594 Congenital generalized lipodystrophy type 1;
NM_006412.3(AGPAT2):c.683T>C (p.Leu228Pro)10555AGPAT2Pathogenic104894100RCV000007006; NMedGen:C1720862,OMIM:6085949139568358139568358OMIM Allelic Variant:603100.0004,UniProtKB (protein):O15120#VAR_017327C1720862 608594 Congenital generalized lipodystrophy type 1;
NM_006412.3(AGPAT2):c.676C>T (p.Gln226Ter)10555AGPAT2Pathogenic1057517655RCV000412578; NMedGen:C1720862,OMIM:6085949139568365139568365-C1720862 608594 Congenital generalized lipodystrophy type 1;
NM_006412.3(AGPAT2):c.661+2T>G10555AGPAT2Pathogenic1057517654RCV000412521; NMedGen:C1720862,OMIM:6085949139569185139569185-C1720862 608594 Congenital generalized lipodystrophy type 1;
NM_006412.3(AGPAT2):c.646A>T (p.Lys216Ter)10555AGPAT2Uncertain significance138994150RCV000412630; NMedGen:C1720862,OMIM:6085949139569202139569202-C0221032 Congenital generalized lipodystrophy;
NM_006412.3(AGPAT2):c.643A>T (p.Lys215Ter)10555AGPAT2Pathogenic121908925RCV000007008; NMedGen:C1720862,OMIM:6085949139569205139569205OMIM Allelic Variant:603100.0006C1720862 608594 Congenital generalized lipodystrophy type 1;
NM_006412.3(AGPAT2):c.620_624delTCTCC (p.Ser208Leufs)10555AGPAT2Pathogenic-1RCV000754915; NMedGen:C1720862,OMIM:6085949139569224139569228-
NM_006412.3(AGPAT2):c.589-2A>G10555AGPAT2Pathogenic116807569RCV000007004; NMedGen:C1720862,OMIM:6085949139569261139569261OMIM Allelic Variant:603100.0002C1720862 608594 Congenital generalized lipodystrophy type 1;
NM_001012727.1(AGPAT2):c.366_492+910del103710555AGPAT2Pathogenic-1RCV000007011; NMedGen:C1720862,OMIM:6085949139570503139571539OMIM Allelic Variant:603100.0009,dbVar:nssv3761633,dbVar:nsv1067865C1720862 608594 Congenital generalized lipodystrophy type 1;
NM_006412.3(AGPAT2):c.570C>A (p.Tyr190Ter)10555AGPAT2Pathogenic121908926RCV000007010; NMedGen:C1720862,OMIM:6085949139571055139571055OMIM Allelic Variant:603100.0008C1720862 608594 Congenital generalized lipodystrophy type 1;
NM_006412.3(AGPAT2):c.538delG (p.Asp180ThrfsTer73)10555AGPAT2Pathogenic1057517653RCV000412491; NMedGen:C1720862,OMIM:6085949139571087139571087-C1720862 608594 Congenital generalized lipodystrophy type 1;
NM_006412.3(AGPAT2):c.514G>A (p.Glu172Lys)10555AGPAT2Likely pathogenic748157664RCV000412645; RCV000494007; NMedGen:C1720862,OMIM:608594; MedGen:CN5172029139571111139571111-C1720862 608594 Congenital generalized lipodystrophy type 1;
NM_006412.3(AGPAT2):c.513delC (p.Glu172Argfs)10555AGPAT2Pathogenic-1RCV000754914; NMedGen:C1720862,OMIM:6085949139571112139571112-
NM_006412.3(AGPAT2):c.503G>A (p.Trp168Ter)10555AGPAT2Pathogenic1057518714RCV000414972; NMedGen:C1720862,OMIM:6085949139571122139571122-C1720862 608594 Congenital generalized lipodystrophy type 1;
NM_006412.4(AGPAT2):c.493-1G>C10555AGPAT2Pathogenic606231168RCV000007009; NMedGen:C1720862,OMIM:6085949139571133139571133OMIM Allelic Variant:603100.0007C1720862 608594 Congenital generalized lipodystrophy type 1;
NM_006412.3(AGPAT2):c.492+4_492+7delAGTG10555AGPAT2Uncertain significance1057518715RCV000414842; NMedGen:C1720862,OMIM:6085949139571406139571409-C1720862 608594 Congenital generalized lipodystrophy type 1;
NM_006412.3(AGPAT2):c.492+1G>A10555AGPAT2Pathogenic933422777RCV000412609; NMedGen:C1720862,OMIM:6085949139571412139571412-C1720862 608594 Congenital generalized lipodystrophy type 1;
NM_006412.3(AGPAT2):c.418_420del (p.Phe140del)10555AGPAT2Pathogenic387906356RCV000007007; NMedGen:C1720862,OMIM:6085949139571485139571487OMIM Allelic Variant:603100.0005C1720862 608594 Congenital generalized lipodystrophy type 1;
NM_006412.3(AGPAT2):c.406G>A (p.Gly136Arg)10555AGPAT2Pathogenic797045222RCV000193026; NMedGen:C1720862,OMIM:6085949139571499139571499UniProtKB (protein):O15120#VAR_017328C1720862 608594 Congenital generalized lipodystrophy type 1;
NM_006412.4(AGPAT2):c.377dup (p.Pro128Alafs)10555AGPAT2Pathogenic387906355RCV000007005; NMedGen:C1720862,OMIM:6085949139571528139571528OMIM Allelic Variant:603100.0003C1720862 608594 Congenital generalized lipodystrophy type 1;
NM_006412.3(AGPAT2):c.335C>T (p.Pro112Leu)10555AGPAT2Uncertain significance886063722RCV000412550; NMedGen:C1720862,OMIM:6085949139571570139571570-C0221032 Congenital generalized lipodystrophy;
NM_006412.4(AGPAT2):c.299G>A (p.Ser100Asn)10555AGPAT2Pathogenic764260414RCV000412496; NMedGen:C1720862,OMIM:6085949139571892139571892-C1720862 608594 Congenital generalized lipodystrophy type 1;
NM_006412.3(AGPAT2):c.202C>T (p.Arg68Ter)10555AGPAT2Pathogenic104894093RCV000007003; NMedGen:C1720862,OMIM:6085949139571989139571989OMIM Allelic Variant:603100.0001C1720862 608594 Congenital generalized lipodystrophy type 1;
NM_006412.3(AGPAT2):c.194G>A (p.Trp65Ter)10555AGPAT2Pathogenic1057517651RCV000412547; NMedGen:C1720862,OMIM:6085949139571997139571997-C1720862 608594 Congenital generalized lipodystrophy type 1;
NM_006412.3(AGPAT2):c.183-2A>G10555AGPAT2Pathogenic1057517649RCV000412588; NMedGen:C1720862,OMIM:6085949139572010139572010-C1720862 608594 Congenital generalized lipodystrophy type 1;
NM_006412.3(AGPAT2):c.182+1G>A10555AGPAT2Pathogenic1057517650RCV000412655; NMedGen:C1720862,OMIM:6085949139581627139581627-C1720862 608594 Congenital generalized lipodystrophy type 1;
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