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MCID: LPD035
MIFTS: 35

Lipodystrophy, Congenital Generalized, Type 4

Categories: Genetic diseases, Rare diseases, Muscle diseases, Skin diseases, Endocrine diseases
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes
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Aliases & Classifications for Lipodystrophy, Congenital Generalized, Type 4

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MalaCards integrated aliases for Lipodystrophy, Congenital Generalized, Type 4:

Name: Lipodystrophy, Congenital Generalized, Type 4 57 53 29 13 6 40 73
Cgl4 57 12 53 75
Generalized Congenital Lipodystrophy with Myopathy 12 53 59
Gcl4 12 53 59
Lipodystrophy, Berardinelli-Seip Congenital, Type 4, with Muscular Dystrophy 57 53
Berardinelli-Seip Congenital Lipodystrophy, Type 4, with Muscular Dystrophy 57 53
Berardinelli-Seip Congenital Lipodystrophy Type 4 with Muscular Dystrophy 12 75
Congenital Generalized Lipodystrophy Type 4 12 53
Generalized Congenital Lipodystrophy Type 4 12 59
Berardinelli-Seip Congenital Lipodystrophy Type 4 75
Congenital Generalized Lipodystrophy 4 75
Brunzell Syndrome Agpat2-Related 12
Bscl4 12

Characteristics:

Orphanet epidemiological data:

59
generalized congenital lipodystrophy with myopathy
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy or early childhood
sudden death due to cardiac arrhythmia may occur


HPO:

32
lipodystrophy, congenital generalized, type 4:
Onset and clinical course infantile onset
Inheritance autosomal recessive inheritance


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Muscle diseases Skin diseases Endocrine diseases
See all MalaCards categories (disease lists)
ICD10: 33 34


Sources

Summaries for Lipodystrophy, Congenital Generalized, Type 4

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UniProtKB/Swiss-Prot : 75 Congenital generalized lipodystrophy 4: A disorder characterized by the association of congenital generalized lipodystrophy with muscular dystrophy and cardiac anomalies. Congenital generalized lipodystrophy is characterized by a near complete absence of adipose tissue, extreme insulin resistance, hypertriglyceridemia, hepatic steatosis and early onset of diabetes.

MalaCards based summary : Lipodystrophy, Congenital Generalized, Type 4, also known as cgl4, is related to lipodystrophy, congenital generalized, type 1 and congenital generalized lipodystrophy, and has symptoms including constipation, muscular stiffness and myalgia. An important gene associated with Lipodystrophy, Congenital Generalized, Type 4 is CAVIN1 (Caveolae Associated Protein 1). Affiliated tissues include liver, skeletal muscle and skin, and related phenotypes are diabetes mellitus and osteopenia

OMIM : 57 Congenital generalized lipodystrophy type 4 combines the phenotype of classic Berardinelli-Seip lipodystrophy (608594) with muscular dystrophy and cardiac conduction anomalies (Hayashi et al., 2009). For a general description and a discussion of genetic heterogeneity of congenital generalized lipodystrophy, see CGL1 (608594). (613327)

Disease Ontology : 12 A congenital generalized lipodystrophy that has material basis in an autosomal recessive mutation of PTRF on chromosome 17q21.2.

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Related Diseases for Lipodystrophy, Congenital Generalized, Type 4

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

# Related Disease Score Top Affiliating Genes
1 lipodystrophy, congenital generalized, type 1 11.5
2 congenital generalized lipodystrophy 10.0
3 cardiac arrhythmia 9.9
4 long qt syndrome 9.9
5 myopathy 9.9

Graphical network of the top 20 diseases related to Lipodystrophy, Congenital Generalized, Type 4:



Diseases related to Lipodystrophy, Congenital Generalized, Type 4
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Symptoms & Phenotypes for Lipodystrophy, Congenital Generalized, Type 4

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Symptoms via clinical synopsis from OMIM:

57
Skeletal:
osteopenia
osteoporosis
joint contractures

Abdomen Gastrointestinal:
dysphagia
constipation
ileus
poor feeding
esophageal dilatation
more
AbdomenSpleen:
splenomegaly

Cardiovascular Heart:
arrhythmia
tachycardia
atrial fibrillation
bradycardia
long qt syndrome

Endocrine Features:
hyperinsulinemia
insulin resistance
acromegaloid features
decreased growth hormone secretion (1 patient)

Immunology:
recurrent infections
defective humoral immunity
transient iga deficiency (1 patient)

Abdomen External Features:
protruding abdomen
prominent umbilicus

Growth Other:
failure to thrive

Skeletal Spine:
scoliosis
hyperlordosis
spinal rigidity
atlanto-axial instability

Abdomen Liver:
hepatomegaly
fatty liver

Skin Nails Hair Hair:
acanthosis nigricans
hirsutism (less common)

Muscle Soft Tissue:
myalgia
exercise intolerance
muscle stiffness
muscle weakness, proximal
muscle hypertrophy
more
Laboratory Abnormalities:
increased serum creatine kinase
increased serum triglycerides
abnormal liver enzymes


Clinical features from OMIM:

613327

Human phenotypes related to Lipodystrophy, Congenital Generalized, Type 4:

59 32 (show top 50) (show all 63)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 diabetes mellitus 59 32 frequent (33%) Frequent (79-30%) HP:0000819
2 osteopenia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000938
3 failure to thrive 59 32 frequent (33%) Frequent (79-30%) HP:0001508
4 dysphagia 59 32 frequent (33%) Frequent (79-30%) HP:0002015
5 constipation 59 32 frequent (33%) Frequent (79-30%) HP:0002019
6 scoliosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002650
7 hyperlordosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0003307
8 splenomegaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0001744
9 hepatomegaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0002240
10 delayed skeletal maturation 59 32 frequent (33%) Frequent (79-30%) HP:0002750
11 flexion contracture 59 32 frequent (33%) Frequent (79-30%) HP:0001371
12 myopathy 59 32 hallmark (90%) Very frequent (99-80%) HP:0003198
13 osteoporosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000939
14 lipoatrophy 59 32 hallmark (90%) Very frequent (99-80%) HP:0100578
15 hypertriglyceridemia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002155
16 acanthosis nigricans 59 32 occasional (7.5%) Occasional (29-5%) HP:0000956
17 thin skin 59 32 frequent (33%) Frequent (79-30%) HP:0000963
18 congestive heart failure 59 32 occasional (7.5%) Occasional (29-5%) HP:0001635
19 secondary amenorrhea 59 32 frequent (33%) Frequent (79-30%) HP:0000869
20 hepatic steatosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0001397
21 elevated hepatic transaminases 59 32 frequent (33%) Frequent (79-30%) HP:0002910
22 hyperinsulinemia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000842
23 pancreatitis 59 32 occasional (7.5%) Occasional (29-5%) HP:0001733
24 myalgia 59 32 Frequent (79-30%) HP:0003326
25 ileus 59 32 frequent (33%) Frequent (79-30%) HP:0002595
26 polycystic ovaries 59 32 occasional (7.5%) Occasional (29-5%) HP:0000147
27 recurrent infections 59 32 occasional (7.5%) Occasional (29-5%) HP:0002719
28 pyloric stenosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002021
29 spinal rigidity 59 32 occasional (7.5%) Occasional (29-5%) HP:0003306
30 skeletal muscle hypertrophy 59 32 Very frequent (99-80%) HP:0003712
31 iga deficiency 59 32 very rare (1%) Very rare (<4-1%) HP:0002720
32 atherosclerosis 59 32 frequent (33%) Frequent (79-30%) HP:0002621
33 dysmenorrhea 59 32 occasional (7.5%) Occasional (29-5%) HP:0100607
34 exercise-induced myalgia 59 32 frequent (33%) Frequent (79-30%) HP:0003738
35 atrial fibrillation 59 32 occasional (7.5%) Occasional (29-5%) HP:0005110
36 insulin resistance 59 32 frequent (33%) Frequent (79-30%) HP:0000855
37 abnormal levels of creatine kinase in blood 59 32 frequent (33%) Frequent (79-30%) HP:0040081
38 hirsutism 59 32 occasional (7.5%) Occasional (29-5%) HP:0001007
39 growth hormone deficiency 59 32 very rare (1%) Very rare (<4-1%) HP:0000824
40 loss of subcutaneous adipose tissue in limbs 59 32 frequent (33%) Frequent (79-30%) HP:0003635
41 abnormality of skeletal muscle fiber size 59 32 occasional (7.5%) Occasional (29-5%) HP:0012084
42 muscle stiffness 59 32 hallmark (90%) Very frequent (99-80%) HP:0003552
43 ventricular hypertrophy 59 32 occasional (7.5%) Occasional (29-5%) HP:0001714
44 palpitations 59 32 frequent (33%) Frequent (79-30%) HP:0001962
45 bradycardia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001662
46 progressive proximal muscle weakness 59 32 hallmark (90%) Very frequent (99-80%) HP:0009073
47 generalized muscle hypertrophy 59 32 frequent (33%) Frequent (79-30%) HP:0003720
48 prolonged qtc interval 59 32 frequent (33%) Frequent (79-30%) HP:0005184
49 atlantoaxial dislocation 59 32 occasional (7.5%) Occasional (29-5%) HP:0003414
50 muscle weakness 59 Very frequent (99-80%)

UMLS symptoms related to Lipodystrophy, Congenital Generalized, Type 4:


constipation, muscular stiffness, myalgia, generalized muscle weakness
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Drugs & Therapeutics for Lipodystrophy, Congenital Generalized, Type 4

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Search Clinical Trials , NIH Clinical Center for Lipodystrophy, Congenital Generalized, Type 4

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Genetic Tests for Lipodystrophy, Congenital Generalized, Type 4

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Genetic tests related to Lipodystrophy, Congenital Generalized, Type 4:

# Genetic test Affiliating Genes
1 Lipodystrophy, Congenital Generalized, Type 4 29 CAVIN1
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Anatomical Context for Lipodystrophy, Congenital Generalized, Type 4

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MalaCards organs/tissues related to Lipodystrophy, Congenital Generalized, Type 4:

41
Liver, Skeletal Muscle, Skin, Bone, Heart, Ovary, Smooth Muscle
Sources

Publications for Lipodystrophy, Congenital Generalized, Type 4

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Articles related to Lipodystrophy, Congenital Generalized, Type 4:

# Title Authors Year
1
Spectrum of clinical manifestations in two young Turkish patients with congenital generalized lipodystrophy type 4. ( 27167729 )
2016
2
Congenital generalized lipodystrophy type 4 with muscular dystrophy: clinical and pathological manifestations in early childhood. ( 23489663 )
2013
3
Congenital generalized lipodystrophy, type 4 (CGL4) associated with myopathy due to novel PTRF mutations. ( 20684003 )
2010
4
A Japanese child with asymptomatic elevation of serum creatine kinase shows PTRF-CAVIN mutation matching with congenital generalized lipodystrophy type 4. ( 20638880 )
2010
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Variations for Lipodystrophy, Congenital Generalized, Type 4

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ClinVar genetic disease variations for Lipodystrophy, Congenital Generalized, Type 4:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 CAVIN1 PTRF, 1-BP INS, 696C insertion Pathogenic
2 CAVIN1 PTRF, 1-BP DEL, 525G deletion Pathogenic
3 CAVIN1 PTRF, 1-BP DEL, 160G deletion Pathogenic
4 CAVIN1 PTRF, 1-BP DUP, 362T duplication Pathogenic
5 CAVIN1 PTRF, 1-BP DEL, 135G deletion Pathogenic
6 CAVIN1 PTRF, 4-BP INS, 481GTGA insertion Pathogenic
7 CAVIN1 PTRF, 4-BP DEL, 518AAGA deletion Pathogenic
8 CAVIN1 PTRF, IVS1DS, G-T, +1 single nucleotide variant Pathogenic
9 CAVIN1 NM_012232.5(CAVIN1): c.199C> T (p.Gln67Ter) single nucleotide variant Likely pathogenic GRCh37 Chromosome 17, 40574917: 40574917
10 CAVIN1 NM_012232.5(CAVIN1): c.199C> T (p.Gln67Ter) single nucleotide variant Likely pathogenic GRCh38 Chromosome 17, 42422899: 42422899
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Expression for Lipodystrophy, Congenital Generalized, Type 4

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Search GEO for disease gene expression data for Lipodystrophy, Congenital Generalized, Type 4.
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Pathways for Lipodystrophy, Congenital Generalized, Type 4

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GO Terms for Lipodystrophy, Congenital Generalized, Type 4

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Sources for Lipodystrophy, Congenital Generalized, Type 4

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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
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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