MCID: LPD032
MIFTS: 32

Lipodystrophy, Congenital Generalized, Type 1

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

Aliases & Classifications for Lipodystrophy, Congenital Generalized, Type 1

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

Name: Lipodystrophy, Congenital Generalized, Type 1 53 13
Congenital Generalized Lipodystrophy Type 1 12 49 28 69
Bscl1 53 12 49 71
Cgl1 53 12 71
Berardinelli-Seip Congenital Lipodystrophy, Type 1 53 12
Berardinelli-Seip Congenital Lipodystrophy Type 1 49 71
Brunzell Syndrome Agpat2-Related 12 71
Berardinelli-Seip Congenital Lipodystrophy, Type 1; Bscl1 53
Lipodystrophy, Berardinelli-Seip Congenital, Type 1 53
Total Lipodystrophy and Acromegaloid Gigantism 71
Congenital Generalized Lipodystrophy 1 71
Familial Partial Lipodystrophy, Type 2 69
Lipodystrophy, Congenital Generalized 41
Familial Generalized Lipodystrophy 69
Brunzell Syndrome, Agpat2-Related 53
Agpat2-Related Brunzell Syndrome 49
Lipodystrophy Berardinelli Type 71
Lipoatrophic Diabetes Mellitus 69
Berardinelli-Seip Syndrome 71
Lipoatrophic Diabetes 71

Characteristics:

OMIM:

53
Inheritance:
autosomal recessive


HPO:

31
lipodystrophy, congenital generalized, type 1:
Inheritance heterogeneous autosomal recessive inheritance


Classifications:



Summaries for Lipodystrophy, Congenital Generalized, Type 1

OMIM : 53 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 mandibular prognathia, macrotia and splenomegaly. An important gene associated with Lipodystrophy, Congenital Generalized, Type 1 is AGPAT2 (1-Acylglycerol-3-Phosphate O-Acyltransferase 2). Affiliated tissues include bone, skin and liver.

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

NIH Rare Diseases : 49 This condition doesn't have a summary yet. Please see our page(s) on Congenital generalized lipodystrophy.

UniProtKB/Swiss-Prot : 71 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

Diseases in the Acquired Generalized Lipodystrophy family:

Lipodystrophy, Congenital Generalized, Type 2 Lipodystrophy, Congenital Generalized, Type 1
Lipodystrophy, Congenital Generalized, Type 3 Lipodystrophy, Congenital Generalized, Type 4
Congenital Generalized Lipodystrophy

Diseases related to Lipodystrophy, Congenital Generalized, Type 1 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 lipodystrophy, familial partial, type 2 12.1
2 aredyld 12.0
3 lipodystrophy, congenital generalized, type 2 10.9
4 lipodystrophy, congenital generalized, type 3 10.9
5 lipodystrophy, congenital generalized, type 4 10.9
6 congenital generalized lipodystrophy 9.9
7 lipodystrophy 9.9

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:

53
Abdomen Spleen:
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 Gastroin testinal:
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:

31 (show all 32)
# Description HPO Frequency HPO Source Accession
1 mandibular prognathia 31 HP:0000303
2 macrotia 31 HP:0000400
3 splenomegaly 31 HP:0001744
4 hepatomegaly 31 HP:0002240
5 umbilical hernia 31 HP:0001537
6 hypertriglyceridemia 31 HP:0002155
7 acanthosis nigricans 31 HP:0000956
8 hepatic steatosis 31 HP:0001397
9 elevated hepatic transaminases 31 HP:0002910
10 hyperinsulinemia 31 HP:0000842
11 cirrhosis 31 HP:0001394
12 cardiomyopathy 31 occasional (7.5%) HP:0001638
13 polycystic ovaries 31 HP:0000147
14 nephrolithiasis 31 HP:0000787
15 polyphagia 31 HP:0002591
16 triangular face 31 HP:0000325
17 large hands 31 HP:0001176
18 tall stature 31 HP:0000098
19 accelerated skeletal maturation 31 HP:0005616
20 decreased fertility in females 31 HP:0000868
21 decreased serum leptin 31 HP:0003292
22 lipodystrophy 31 HP:0009125
23 hirsutism 31 HP:0001007
24 clitoral hypertrophy 31 HP:0008665
25 long foot 31 HP:0001833
26 insulin-resistant diabetes mellitus at puberty 31 HP:0000877
27 acute pancreatitis 31 HP:0001735
28 labial hypertrophy 31 HP:0000065
29 prominent umbilicus 31 HP:0001544
30 generalized muscular appearance from birth 31 HP:0003716
31 cystic angiomatosis of bone 31 HP:0002833
32 reduced intrathoracic adipose tissue 31 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 28 AGPAT2

Anatomical Context for Lipodystrophy, Congenital Generalized, Type 1

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

38
Bone, Skin, 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:

71
# 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 all 24)
# 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.589-2A> G single nucleotide variant Pathogenic rs116807569 GRCh38 Chromosome 9, 136674809: 136674809
3 AGPAT2 NM_006412.3(AGPAT2): c.377dupT (p.Pro128Alafs) duplication Pathogenic rs387906355 GRCh37 Chromosome 9, 139571528: 139571528
4 AGPAT2 NM_006412.3(AGPAT2): c.683T> C (p.Leu228Pro) single nucleotide variant Pathogenic rs104894100 GRCh37 Chromosome 9, 139568358: 139568358
5 AGPAT2 NM_006412.3(AGPAT2): c.418_420delTTC (p.Phe140del) deletion Pathogenic rs387906356 GRCh37 Chromosome 9, 139571485: 139571487
6 AGPAT2 NM_006412.3(AGPAT2): c.643A> T (p.Lys215Ter) single nucleotide variant Pathogenic rs121908925 GRCh37 Chromosome 9, 139569205: 139569205
7 AGPAT2 NM_006412.3(AGPAT2): c.493-1G> C single nucleotide variant Pathogenic rs606231168 GRCh38 Chromosome 9, 136676681: 136676681
8 AGPAT2 NM_006412.3(AGPAT2): c.570C> A (p.Tyr190Ter) single nucleotide variant Pathogenic rs121908926 GRCh37 Chromosome 9, 139571055: 139571055
9 AGPAT2 NM_001012727.1(AGPAT2): c.366_492+910del1037 deletion Pathogenic GRCh37 Chromosome 9, 139570503: 139571539
10 AGPAT2 NM_006412.3(AGPAT2): c.406G> A (p.Gly136Arg) single nucleotide variant Pathogenic rs797045222 GRCh38 Chromosome 9, 136677047: 136677047
11 AGPAT2 NM_006412.3(AGPAT2): c.282delC (p.Ile94Metfs) deletion Pathogenic rs886043265 GRCh37 Chromosome 9, 139571909: 139571909
12 AGPAT2 NM_006412.3(AGPAT2): c.755_763delTGAGGACCA (p.Met252_Thr254del) deletion Pathogenic rs1057517656 GRCh38 Chromosome 9, 136673826: 136673834
13 AGPAT2 NM_006412.3(AGPAT2): c.713C> G (p.Ala238Gly) single nucleotide variant Pathogenic rs200656731 GRCh38 Chromosome 9, 136673876: 136673876
14 AGPAT2 NM_006412.3(AGPAT2): c.676C> T (p.Gln226Ter) single nucleotide variant Pathogenic rs1057517655 GRCh37 Chromosome 9, 139568365: 139568365
15 AGPAT2 NM_006412.3(AGPAT2): c.661+2T> G single nucleotide variant Pathogenic rs1057517654 GRCh38 Chromosome 9, 136674733: 136674733
16 AGPAT2 NM_006412.3(AGPAT2): c.538delG (p.Asp180ThrfsTer73) deletion Pathogenic rs1057517653 GRCh38 Chromosome 9, 136676635: 136676635
17 AGPAT2 NM_006412.3(AGPAT2): c.514G> A (p.Glu172Lys) single nucleotide variant Pathogenic/Likely pathogenic rs748157664 GRCh38 Chromosome 9, 136676659: 136676659
18 AGPAT2 NM_006412.3(AGPAT2): c.492+1G> A single nucleotide variant Pathogenic rs933422777 GRCh38 Chromosome 9, 136676960: 136676960
19 AGPAT2 NM_006412.3(AGPAT2): c.299G> A (p.Ser100Asn) single nucleotide variant Pathogenic rs764260414 GRCh38 Chromosome 9, 136677440: 136677440
20 AGPAT2 NM_006412.3(AGPAT2): c.194G> A (p.Trp65Ter) single nucleotide variant Pathogenic rs1057517651 GRCh38 Chromosome 9, 136677545: 136677545
21 AGPAT2 NM_006412.3(AGPAT2): c.183-2A> G single nucleotide variant Pathogenic rs1057517649 GRCh38 Chromosome 9, 136677558: 136677558
22 AGPAT2 NM_006412.3(AGPAT2): c.182+1G> A single nucleotide variant Pathogenic rs1057517650 GRCh38 Chromosome 9, 136687175: 136687175
23 AGPAT2 NP_006403.2: p.Leu107AlafsTer279 deletion Pathogenic
24 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

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