MCID: LPD032
MIFTS: 31

Lipodystrophy, Congenital Generalized, Type 1

Categories: Genetic diseases, Rare diseases, Skin diseases, Neuronal diseases, Endocrine 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 54 13
Congenital Generalized Lipodystrophy Type 1 12 50 29 69
Bscl1 12 50 24 71
Berardinelli-Seip Congenital Lipodystrophy Type 1 50 24 71
Brunzell Syndrome Agpat2-Related 12 71
Cgl1 12 71
Berardinelli-Seip Congenital Generalized Lipodystrophy Type 1 24
Berardinelli-Seip Congenital Lipodystrophy, Type 1 12
Total Lipodystrophy and Acromegaloid Gigantism 71
Congenital Generalized Lipodystrophy 1 71
Familial Partial Lipodystrophy, Type 2 69
Lipodystrophy, Congenital Generalized 42
Familial Generalized Lipodystrophy 69
Brunzell Syndrome, Agpat2-Related 50
Agpat2-Related Brunzell Syndrome 24
Lipodystrophy Berardinelli Type 71
Lipoatrophic Diabetes Mellitus 69
Berardinelli-Seip Syndrome 71
Lipoatrophic Diabetes 71
Bscl Type 1 24

Characteristics:

OMIM:

54
Inheritance:
autosomal recessive


HPO:

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


Classifications:



Summaries for Lipodystrophy, Congenital Generalized, Type 1

OMIM : 54
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 aredyld and lipodystrophy, familial partial, type 2, and has symptoms including hirsutism, hypertriglyceridemia and umbilical hernia. 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 skin.

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

id Related Disease Score Top Affiliating Genes
1 aredyld 11.8
2 lipodystrophy, familial partial, type 2 11.7
3 lipodystrophy, congenital generalized, type 2 11.5
4 lipodystrophy, congenital generalized, type 4 11.1
5 congenital generalized lipodystrophy 9.8
6 lipodystrophy 9.8

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:

54

Skin Nails & Hair- Hair:
hirsutism

Abdomen- External Features:
umbilical hernia
prominent umbilicus

Abdomen- Liver:
hepatomegaly
cirrhosis
hepatic steatosis

Head And Neck- Ears:
large ears

Cardiovascular- Heart:
cardiomyopathy (in some patients)

Skin Nails & Hair- Skin:
acanthosis nigricans

Head And Neck- Face:
large mandible
triangular facies
acromegaloid features

Skeletal- Hands:
large hands

Growth- Height:
increased linear growth

Abdomen- Gastroin testinal:
voracious appetite

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

Laboratory- Abnormalities:
hypertriglyceridemia
hyperinsulinemia
elevated liver enzymes
decreased serum leptin

Genitourinary- Kidneys:
nephrolithiasis

Abdomen- Spleen:
splenomegaly

Genitourinary- External Genitalia Female:
clitoromegaly
labial hypertrophy

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

Genitourinary- Internal Genitalia Female:
polycystic ovaries
decreased fertility in females

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

Skeletal- Feet:
large feet

Abdomen- Pancreas:
pancreatitis, acute

Genitourinary:
genital anomalies


Clinical features from OMIM:

608594

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

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

id Genetic test Affiliating Genes
1 Congenital Generalized Lipodystrophy Type 1 29
2 Berardinelli-Seip Congenital Lipodystrophy Type 1 24 AGPAT2

Anatomical Context for Lipodystrophy, Congenital Generalized, Type 1

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

39
Bone, Liver, Skin, Ovary

Publications for Lipodystrophy, Congenital Generalized, Type 1

Variations for Lipodystrophy, Congenital Generalized, Type 1

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

71
id 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)
id 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.538delG (p.Asp180ThrfsTer73) deletion Pathogenic rs1057517653 GRCh37 Chromosome 9, 139571087: 139571087
13 AGPAT2 NM_006412.3(AGPAT2): c.755_763delTGAGGACCA (p.Met252_Thr254del) deletion Pathogenic rs1057517656 GRCh38 Chromosome 9, 136673826: 136673834
14 AGPAT2 NM_006412.3(AGPAT2): c.713C> G (p.Ala238Gly) single nucleotide variant Pathogenic rs200656731 GRCh38 Chromosome 9, 136673876: 136673876
15 AGPAT2 NM_006412.3(AGPAT2): c.676C> T (p.Gln226Ter) single nucleotide variant Pathogenic rs1057517655 GRCh37 Chromosome 9, 139568365: 139568365
16 AGPAT2 NM_006412.3(AGPAT2): c.661+2T> G single nucleotide variant Pathogenic rs1057517654 GRCh38 Chromosome 9, 136674733: 136674733
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

Sources for Lipodystrophy, Congenital Generalized, Type 1

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