MCID: LPD032
MIFTS: 32

Lipodystrophy, Congenital Generalized, Type 1

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

Aliases & Classifications for Lipodystrophy, Congenital Generalized, Type 1

MalaCards integrated aliases for Lipodystrophy, Congenital Generalized, Type 1:

Name: Lipodystrophy, Congenital Generalized, Type 1 57 13
Congenital Generalized Lipodystrophy Type 1 12 53 29 6 73
Bscl1 57 12 53 75
Cgl1 57 12 75
Berardinelli-Seip Congenital Lipodystrophy, Type 1 57 12
Berardinelli-Seip Congenital Lipodystrophy Type 1 53 75
Brunzell Syndrome Agpat2-Related 12 75
Berardinelli-Seip Congenital Lipodystrophy, Type 1; Bscl1 57
Lipodystrophy, Berardinelli-Seip Congenital, Type 1 57
Total Lipodystrophy and Acromegaloid Gigantism 75
Lipodystrophy, Generalized, Congenital, Type 1 40
Congenital Generalized Lipodystrophy 1 75
Familial Partial Lipodystrophy, Type 2 73
Lipodystrophy, Congenital Generalized 44
Familial Generalized Lipodystrophy 73
Brunzell Syndrome, Agpat2-Related 57
Agpat2-Related Brunzell Syndrome 53
Lipodystrophy Berardinelli Type 75
Lipoatrophic Diabetes Mellitus 73
Berardinelli-Seip Syndrome 75
Lipoatrophic Diabetes 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
lipodystrophy, congenital generalized, type 1:
Inheritance heterogeneous autosomal recessive inheritance


Classifications:



Summaries for Lipodystrophy, Congenital Generalized, Type 1

OMIM : 57 Congenital generalized lipodystrophy (CGL), or Berardinelli-Seip syndrome, is a rare autosomal recessive disease characterized by a near absence of adipose tissue from birth or early infancy and severe insulin resistance. Other clinical and biologic features include acanthosis nigricans, muscular hypertrophy, hepatomegaly, altered glucose tolerance or diabetes mellitus, and hypertriglyceridemia (Garg, 2004). (608594)

MalaCards based summary : Lipodystrophy, Congenital Generalized, Type 1, also known as congenital generalized lipodystrophy type 1, is related to lipodystrophy, familial partial, type 2 and aredyld, and has symptoms including myalgia An important gene associated with Lipodystrophy, Congenital Generalized, Type 1 is AGPAT2 (1-Acylglycerol-3-Phosphate O-Acyltransferase 2). Affiliated tissues include bone, liver and ovary, and related phenotypes are mandibular prognathia and macrotia

Disease Ontology : 12 A congenital generalized lipodystrophy that has material basis in an autosomal recessive mutation of AGPAT2 on chromosome 9q34.3.

UniProtKB/Swiss-Prot : 75 Congenital generalized lipodystrophy 1: 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 1

Graphical network of the top 20 diseases related to Lipodystrophy, Congenital Generalized, Type 1:



Diseases related to Lipodystrophy, Congenital Generalized, Type 1

Symptoms & Phenotypes for Lipodystrophy, Congenital Generalized, Type 1

Symptoms via clinical synopsis from OMIM:

57
AbdomenSpleen:
splenomegaly

Abdomen External Features:
umbilical hernia
prominent umbilicus

Skin Nails Hair Skin:
acanthosis nigricans

Genitourinary Kidneys:
nephrolithiasis

Genitourinary External Genitalia Female:
clitoromegaly
labial hypertrophy

Skin Nails Hair Hair:
hirsutism

Skeletal:
advanced bone age
lytic cystic lesions in appendicular bones (occurs after puberty)

Head And Neck Ears:
large ears

Abdomen Gastrointestinal:
voracious appetite

Genitourinary:
genital anomalies

Abdomen Pancreas:
pancreatitis, acute

Abdomen Liver:
hepatomegaly
hepatic steatosis
cirrhosis

Laboratory Abnormalities:
hypertriglyceridemia
hyperinsulinemia
decreased serum leptin
elevated liver enzymes

Genitourinary Internal Genitalia Female:
polycystic ovaries
decreased fertility in females

Skeletal Hands:
large hands

Endocrine Features:
decreased fertility in females
insulin-resistant diabetes mellitus at puberty

Muscle Soft Tissue:
nearly complete absence of metabolically active adipose tissue (subcutaneous, intraabdominal, intrathoracic)
hernias
generalized muscular appearance from birth
retain some mechanical adipose tissue (joints, orbits, palms, soles)

Skeletal Feet:
large feet

Head And Neck Face:
triangular facies
large mandible
acromegaloid features

Cardiovascular Heart:
cardiomyopathy (in some patients)

Growth Height:
increased linear growth


Clinical features from OMIM:

608594

Human phenotypes related to Lipodystrophy, Congenital Generalized, Type 1:

32 (show all 32)
# Description HPO Frequency HPO Source Accession
1 mandibular prognathia 32 HP:0000303
2 macrotia 32 HP:0000400
3 splenomegaly 32 HP:0001744
4 hepatomegaly 32 HP:0002240
5 umbilical hernia 32 HP:0001537
6 hypertriglyceridemia 32 HP:0002155
7 acanthosis nigricans 32 HP:0000956
8 hepatic steatosis 32 HP:0001397
9 elevated hepatic transaminases 32 HP:0002910
10 hyperinsulinemia 32 HP:0000842
11 cirrhosis 32 HP:0001394
12 cardiomyopathy 32 occasional (7.5%) HP:0001638
13 polycystic ovaries 32 HP:0000147
14 nephrolithiasis 32 HP:0000787
15 polyphagia 32 HP:0002591
16 triangular face 32 HP:0000325
17 large hands 32 HP:0001176
18 tall stature 32 HP:0000098
19 accelerated skeletal maturation 32 HP:0005616
20 decreased fertility in females 32 HP:0000868
21 decreased serum leptin 32 HP:0003292
22 lipodystrophy 32 HP:0009125
23 hirsutism 32 HP:0001007
24 clitoral hypertrophy 32 HP:0008665
25 long foot 32 HP:0001833
26 insulin-resistant diabetes mellitus at puberty 32 HP:0000877
27 acute pancreatitis 32 HP:0001735
28 labial hypertrophy 32 HP:0000065
29 prominent umbilicus 32 HP:0001544
30 generalized muscular appearance from birth 32 HP:0003716
31 cystic angiomatosis of bone 32 HP:0002833
32 reduced intrathoracic adipose tissue 32 HP:0003809

UMLS symptoms related to Lipodystrophy, Congenital Generalized, Type 1:


myalgia

Drugs & Therapeutics for Lipodystrophy, Congenital Generalized, Type 1

Search Clinical Trials , NIH Clinical Center for Lipodystrophy, Congenital Generalized, Type 1

Cochrane evidence based reviews: lipodystrophy, congenital generalized

Genetic Tests for Lipodystrophy, Congenital Generalized, Type 1

Genetic tests related to Lipodystrophy, Congenital Generalized, Type 1:

# Genetic test Affiliating Genes
1 Congenital Generalized Lipodystrophy Type 1 29 AGPAT2

Anatomical Context for Lipodystrophy, Congenital Generalized, Type 1

MalaCards organs/tissues related to Lipodystrophy, Congenital Generalized, Type 1:

41
Bone, Liver, Ovary

Publications for Lipodystrophy, Congenital Generalized, Type 1

Articles related to Lipodystrophy, Congenital Generalized, Type 1:

# Title Authors Year
1
Identification of a novel nonsense mutation and a missense substitution in the AGPAT2 gene causing congenital generalized lipodystrophy type 1. ( 22902344 )
2012

Variations for Lipodystrophy, Congenital Generalized, Type 1

UniProtKB/Swiss-Prot genetic disease variations for Lipodystrophy, Congenital Generalized, Type 1:

75
# Symbol AA change Variation ID SNP ID
1 AGPAT2 p.Ala239Val VAR_017325 rs145975461
2 AGPAT2 p.Leu228Pro VAR_017327 rs104894100
3 AGPAT2 p.Gly136Arg VAR_017328 rs797045222

ClinVar genetic disease variations for Lipodystrophy, Congenital Generalized, Type 1:

6
(show top 50) (show all 53)
# Gene Variation Type Significance SNP ID Assembly Location
1 AGPAT2 NM_006412.3(AGPAT2): c.202C> T (p.Arg68Ter) single nucleotide variant Pathogenic rs104894093 GRCh37 Chromosome 9, 139571989: 139571989
2 AGPAT2 NM_006412.3(AGPAT2): c.202C> T (p.Arg68Ter) single nucleotide variant Pathogenic rs104894093 GRCh38 Chromosome 9, 136677537: 136677537
3 AGPAT2 NM_006412.3(AGPAT2): c.589-2A> G single nucleotide variant Pathogenic rs116807569 GRCh38 Chromosome 9, 136674809: 136674809
4 AGPAT2 NM_006412.3(AGPAT2): c.589-2A> G single nucleotide variant Pathogenic rs116807569 GRCh37 Chromosome 9, 139569261: 139569261
5 AGPAT2 NM_006412.3(AGPAT2): c.377dupT (p.Pro128Alafs) duplication Pathogenic rs387906355 GRCh37 Chromosome 9, 139571528: 139571528
6 AGPAT2 NM_006412.3(AGPAT2): c.377dupT (p.Pro128Alafs) duplication Pathogenic rs387906355 GRCh38 Chromosome 9, 136677076: 136677076
7 AGPAT2 NM_006412.3(AGPAT2): c.683T> C (p.Leu228Pro) single nucleotide variant Pathogenic rs104894100 GRCh37 Chromosome 9, 139568358: 139568358
8 AGPAT2 NM_006412.3(AGPAT2): c.683T> C (p.Leu228Pro) single nucleotide variant Pathogenic rs104894100 GRCh38 Chromosome 9, 136673906: 136673906
9 AGPAT2 NM_006412.3(AGPAT2): c.418_420delTTC (p.Phe140del) deletion Pathogenic rs387906356 GRCh37 Chromosome 9, 139571485: 139571487
10 AGPAT2 NM_006412.3(AGPAT2): c.418_420delTTC (p.Phe140del) deletion Pathogenic rs387906356 GRCh38 Chromosome 9, 136677033: 136677035
11 AGPAT2 NM_006412.3(AGPAT2): c.643A> T (p.Lys215Ter) single nucleotide variant Pathogenic rs121908925 GRCh37 Chromosome 9, 139569205: 139569205
12 AGPAT2 NM_006412.3(AGPAT2): c.643A> T (p.Lys215Ter) single nucleotide variant Pathogenic rs121908925 GRCh38 Chromosome 9, 136674753: 136674753
13 AGPAT2 NM_006412.3(AGPAT2): c.493-1G> C single nucleotide variant Pathogenic rs606231168 GRCh38 Chromosome 9, 136676681: 136676681
14 AGPAT2 NM_006412.3(AGPAT2): c.493-1G> C single nucleotide variant Pathogenic rs606231168 GRCh37 Chromosome 9, 139571133: 139571133
15 AGPAT2 NM_006412.3(AGPAT2): c.570C> A (p.Tyr190Ter) single nucleotide variant Pathogenic rs121908926 GRCh37 Chromosome 9, 139571055: 139571055
16 AGPAT2 NM_006412.3(AGPAT2): c.570C> A (p.Tyr190Ter) single nucleotide variant Pathogenic rs121908926 GRCh38 Chromosome 9, 136676603: 136676603
17 AGPAT2 NM_001012727.1(AGPAT2): c.366_492+910del1037 deletion Pathogenic GRCh37 Chromosome 9, 139570503: 139571539
18 AGPAT2 NM_001012727.1(AGPAT2): c.366_492+910del1037 deletion Pathogenic GRCh38 Chromosome 9, 136676051: 136677087
19 AGPAT2 NM_006412.3(AGPAT2): c.406G> A (p.Gly136Arg) single nucleotide variant Pathogenic rs797045222 GRCh37 Chromosome 9, 139571499: 139571499
20 AGPAT2 NM_006412.3(AGPAT2): c.406G> A (p.Gly136Arg) single nucleotide variant Pathogenic rs797045222 GRCh38 Chromosome 9, 136677047: 136677047
21 AGPAT2 NM_006412.3(AGPAT2): c.282delC (p.Ile94Metfs) deletion Pathogenic rs886043265 GRCh37 Chromosome 9, 139571909: 139571909
22 AGPAT2 NM_006412.3(AGPAT2): c.282delC (p.Ile94Metfs) deletion Pathogenic rs886043265 GRCh38 Chromosome 9, 136677457: 136677457
23 AGPAT2 NM_006412.3(AGPAT2): c.646A> T (p.Lys216Ter) single nucleotide variant Uncertain significance rs138994150 GRCh37 Chromosome 9, 139569202: 139569202
24 AGPAT2 NM_006412.3(AGPAT2): c.646A> T (p.Lys216Ter) single nucleotide variant Uncertain significance rs138994150 GRCh38 Chromosome 9, 136674750: 136674750
25 AGPAT2 NM_006412.3(AGPAT2): c.335C> T (p.Pro112Leu) single nucleotide variant Uncertain significance rs886063722 GRCh37 Chromosome 9, 139571570: 139571570
26 AGPAT2 NM_006412.3(AGPAT2): c.335C> T (p.Pro112Leu) single nucleotide variant Uncertain significance rs886063722 GRCh38 Chromosome 9, 136677118: 136677118
27 AGPAT2 NM_006412.3(AGPAT2): c.755_763delTGAGGACCA (p.Met252_Thr254del) deletion Pathogenic rs1057517656 GRCh38 Chromosome 9, 136673826: 136673834
28 AGPAT2 NM_006412.3(AGPAT2): c.755_763delTGAGGACCA (p.Met252_Thr254del) deletion Pathogenic rs1057517656 GRCh37 Chromosome 9, 139568278: 139568286
29 AGPAT2 NM_006412.3(AGPAT2): c.713C> G (p.Ala238Gly) single nucleotide variant Pathogenic rs200656731 GRCh38 Chromosome 9, 136673876: 136673876
30 AGPAT2 NM_006412.3(AGPAT2): c.713C> G (p.Ala238Gly) single nucleotide variant Pathogenic rs200656731 GRCh37 Chromosome 9, 139568328: 139568328
31 AGPAT2 NM_006412.3(AGPAT2): c.676C> T (p.Gln226Ter) single nucleotide variant Pathogenic rs1057517655 GRCh37 Chromosome 9, 139568365: 139568365
32 AGPAT2 NM_006412.3(AGPAT2): c.676C> T (p.Gln226Ter) single nucleotide variant Pathogenic rs1057517655 GRCh38 Chromosome 9, 136673913: 136673913
33 AGPAT2 NM_006412.3(AGPAT2): c.661+2T> G single nucleotide variant Pathogenic rs1057517654 GRCh38 Chromosome 9, 136674733: 136674733
34 AGPAT2 NM_006412.3(AGPAT2): c.661+2T> G single nucleotide variant Pathogenic rs1057517654 GRCh37 Chromosome 9, 139569185: 139569185
35 AGPAT2 NM_006412.3(AGPAT2): c.538delG (p.Asp180ThrfsTer73) deletion Pathogenic rs1057517653 GRCh38 Chromosome 9, 136676635: 136676635
36 AGPAT2 NM_006412.3(AGPAT2): c.538delG (p.Asp180ThrfsTer73) deletion Pathogenic rs1057517653 GRCh37 Chromosome 9, 139571087: 139571087
37 AGPAT2 NM_006412.3(AGPAT2): c.514G> A (p.Glu172Lys) single nucleotide variant Likely pathogenic rs748157664 GRCh38 Chromosome 9, 136676659: 136676659
38 AGPAT2 NM_006412.3(AGPAT2): c.514G> A (p.Glu172Lys) single nucleotide variant Likely pathogenic rs748157664 GRCh37 Chromosome 9, 139571111: 139571111
39 AGPAT2 NM_006412.3(AGPAT2): c.492+1G> A single nucleotide variant Pathogenic rs933422777 GRCh38 Chromosome 9, 136676960: 136676960
40 AGPAT2 NM_006412.3(AGPAT2): c.492+1G> A single nucleotide variant Pathogenic rs933422777 GRCh37 Chromosome 9, 139571412: 139571412
41 AGPAT2 NM_006412.3(AGPAT2): c.299G> A (p.Ser100Asn) single nucleotide variant Pathogenic rs764260414 GRCh38 Chromosome 9, 136677440: 136677440
42 AGPAT2 NM_006412.3(AGPAT2): c.299G> A (p.Ser100Asn) single nucleotide variant Pathogenic rs764260414 GRCh37 Chromosome 9, 139571892: 139571892
43 AGPAT2 NM_006412.3(AGPAT2): c.194G> A (p.Trp65Ter) single nucleotide variant Pathogenic rs1057517651 GRCh38 Chromosome 9, 136677545: 136677545
44 AGPAT2 NM_006412.3(AGPAT2): c.194G> A (p.Trp65Ter) single nucleotide variant Pathogenic rs1057517651 GRCh37 Chromosome 9, 139571997: 139571997
45 AGPAT2 NM_006412.3(AGPAT2): c.183-2A> G single nucleotide variant Pathogenic rs1057517649 GRCh38 Chromosome 9, 136677558: 136677558
46 AGPAT2 NM_006412.3(AGPAT2): c.183-2A> G single nucleotide variant Pathogenic rs1057517649 GRCh37 Chromosome 9, 139572010: 139572010
47 AGPAT2 NM_006412.3(AGPAT2): c.182+1G> A single nucleotide variant Pathogenic rs1057517650 GRCh38 Chromosome 9, 136687175: 136687175
48 AGPAT2 NM_006412.3(AGPAT2): c.182+1G> A single nucleotide variant Pathogenic rs1057517650 GRCh37 Chromosome 9, 139581627: 139581627
49 AGPAT2 NP_006403.2: p.Leu107AlafsTer279 deletion Pathogenic
50 AGPAT2 NM_006412.3(AGPAT2): c.503G> A (p.Trp168Ter) single nucleotide variant Pathogenic rs1057518714 GRCh37 Chromosome 9, 139571122: 139571122

Expression for Lipodystrophy, Congenital Generalized, Type 1

Search GEO for disease gene expression data for Lipodystrophy, Congenital Generalized, Type 1.

Pathways for Lipodystrophy, Congenital Generalized, Type 1

GO Terms for Lipodystrophy, Congenital Generalized, Type 1

Sources for Lipodystrophy, Congenital Generalized, Type 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....