MCID: LPD035
MIFTS: 35

Lipodystrophy, Congenital Generalized, Type 4

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

Aliases & Classifications for Lipodystrophy, Congenital Generalized, Type 4

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:



Summaries for Lipodystrophy, Congenital Generalized, Type 4

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.

Related Diseases for Lipodystrophy, Congenital Generalized, Type 4

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

Symptoms & Phenotypes for Lipodystrophy, Congenital Generalized, Type 4

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

Drugs & Therapeutics for Lipodystrophy, Congenital Generalized, Type 4

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

Genetic Tests for Lipodystrophy, Congenital Generalized, Type 4

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

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

Anatomical Context for Lipodystrophy, Congenital Generalized, Type 4

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

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

Publications for Lipodystrophy, Congenital Generalized, Type 4

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

Variations for Lipodystrophy, Congenital Generalized, Type 4

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

Expression for Lipodystrophy, Congenital Generalized, Type 4

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

Pathways for Lipodystrophy, Congenital Generalized, Type 4

GO Terms for Lipodystrophy, Congenital Generalized, Type 4

Sources for Lipodystrophy, Congenital Generalized, Type 4

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10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
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30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
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45 MESH via Orphanet
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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
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