MCID: LPD020
MIFTS: 22

Lipodystrophy, Congenital Generalized, Type 3

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

Aliases & Classifications for Lipodystrophy, Congenital Generalized, Type 3

MalaCards integrated aliases for Lipodystrophy, Congenital Generalized, Type 3:

Name: Lipodystrophy, Congenital Generalized, Type 3 57 29 13 6 40 73
Bscl3 57 12 75
Cgl3 57 12 75
Berardinelli-Seip Congenital Lipodystrophy Type 3 12 75
Congenital Generalized Lipodystrophy Type 3 12 53
Berardinelli-Seip Congenital Lipodystrophy, Type 3; Bscl3 57
Lipodystrophy, Berardinelli-Seip Congenital, Type 3 57
Berardinelli-Seip Congenital Lipodystrophy, Type 3 57
Type 3 Berardinelli-Seip Congenital Lipodystrophy 53
Congenital Generalized Lipodystrophy 3 75

Characteristics:

HPO:

32
lipodystrophy, congenital generalized, type 3:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Lipodystrophy, Congenital Generalized, Type 3

OMIM : 57 Congenital generalized lipodystrophy, also known as Berardinelli-Seip syndrome, is an autosomal recessive disorder characterized by marked paucity of adipose tissue, extreme insulin resistance, hypertriglyceridemia, hepatic steatosis, and early onset of diabetes (Garg, 2004). For a general description and a discussion of genetic heterogeneity of congenital generalized lipodystrophy, see CGL1 (608594). See also partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome (LCCNS; 606721), which is associated with heterozygous mutation in the CAV1 gene. (612526)

MalaCards based summary : Lipodystrophy, Congenital Generalized, Type 3, also known as bscl3, is related to congenital generalized lipodystrophy. An important gene associated with Lipodystrophy, Congenital Generalized, Type 3 is CAV1 (Caveolin 1). Related phenotypes are diabetes mellitus and insulin resistance

Disease Ontology : 12 A congenital generalized lipodystrophy that has material basis in an autosomal recessive mutation of CAV1 on chromosome 7q31.2.

UniProtKB/Swiss-Prot : 75 Congenital generalized lipodystrophy 3: 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 3

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 3 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 congenital generalized lipodystrophy 9.8

Symptoms & Phenotypes for Lipodystrophy, Congenital Generalized, Type 3

Clinical features from OMIM:

612526

Human phenotypes related to Lipodystrophy, Congenital Generalized, Type 3:

32 (show all 12)
# Description HPO Frequency HPO Source Accession
1 diabetes mellitus 32 HP:0000819
2 insulin resistance 32 HP:0000855
3 acanthosis nigricans 32 HP:0000956
4 hirsutism 32 HP:0001007
5 hepatic steatosis 32 HP:0001397
6 hepatosplenomegaly 32 HP:0001433
7 hypertriglyceridemia 32 HP:0002155
8 hypocalcemia 32 HP:0002901
9 hypercholesterolemia 32 HP:0003124
10 reduced subcutaneous adipose tissue 32 HP:0003758
11 short stature 32 HP:0004322
12 lipodystrophy 32 HP:0009125

Drugs & Therapeutics for Lipodystrophy, Congenital Generalized, Type 3

Search Clinical Trials , NIH Clinical Center for Lipodystrophy, Congenital Generalized, Type 3

Genetic Tests for Lipodystrophy, Congenital Generalized, Type 3

Genetic tests related to Lipodystrophy, Congenital Generalized, Type 3:

# Genetic test Affiliating Genes
1 Lipodystrophy, Congenital Generalized, Type 3 29 CAV1

Anatomical Context for Lipodystrophy, Congenital Generalized, Type 3

Publications for Lipodystrophy, Congenital Generalized, Type 3

Articles related to Lipodystrophy, Congenital Generalized, Type 3:

# Title Authors Year
1
Studies in congenital generalized lipodystrophy. 3. Growth hormone levels. ( 4740840 )
1973

Variations for Lipodystrophy, Congenital Generalized, Type 3

ClinVar genetic disease variations for Lipodystrophy, Congenital Generalized, Type 3:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 CAV1 NM_001753.4(CAV1): c.112G> T (p.Glu38Ter) single nucleotide variant Pathogenic rs121434501 GRCh37 Chromosome 7, 116166660: 116166660
2 CAV1 NM_001753.4(CAV1): c.112G> T (p.Glu38Ter) single nucleotide variant Pathogenic rs121434501 GRCh38 Chromosome 7, 116526606: 116526606
3 CAV1 NM_001753.4(CAV1): c.479_480delTT (p.Phe160Terfs) deletion Pathogenic rs797044871 GRCh37 Chromosome 7, 116199283: 116199284
4 CAV1 NM_001753.4(CAV1): c.479_480delTT (p.Phe160Terfs) deletion Pathogenic rs797044871 GRCh38 Chromosome 7, 116559229: 116559230
5 CAV1 NM_001753.4(CAV1): c.424C> T (p.Gln142Ter) single nucleotide variant Pathogenic rs797045176 GRCh37 Chromosome 7, 116199228: 116199228
6 CAV1 NM_001753.4(CAV1): c.424C> T (p.Gln142Ter) single nucleotide variant Pathogenic rs797045176 GRCh38 Chromosome 7, 116559174: 116559174

Expression for Lipodystrophy, Congenital Generalized, Type 3

Search GEO for disease gene expression data for Lipodystrophy, Congenital Generalized, Type 3.

Pathways for Lipodystrophy, Congenital Generalized, Type 3

GO Terms for Lipodystrophy, Congenital Generalized, Type 3

Sources for Lipodystrophy, Congenital Generalized, Type 3

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
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30 HGMD
31 HMDB
32 HPO
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34 ICD10 via Orphanet
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55 Novoseek
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62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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