CGL4
MCID: LPD035
MIFTS: 46

Lipodystrophy, Congenital Generalized, Type 4 (CGL4)

Categories: Cardiovascular diseases, Endocrine diseases, Fetal diseases, Genetic diseases, Liver diseases, Metabolic diseases, Muscle diseases, Neuronal diseases, Rare diseases, Skin diseases
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Aliases & Classifications for Lipodystrophy, Congenital Generalized, Type 4

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

Name: Lipodystrophy, Congenital Generalized, Type 4 57 19 12 38 71
Congenital Generalized Lipodystrophy Type 4 11 19 28 5 14
Cgl4 57 19 73
Lipodystrophy, Berardinelli-Seip Congenital, Type 4, with Muscular Dystrophy 57 19
Berardinelli-Seip Congenital Lipodystrophy, Type 4, with Muscular Dystrophy 57 19
Berardinelli-Seip Congenital Lipodystrophy Type 4 with Muscular Dystrophy 11 73
Generalized Congenital Lipodystrophy with Myopathy 11 19
Generalised Congenital Lipodystrophy with Myopathy 11
Berardinelli-Seip Congenital Lipodystrophy Type 4 73
Congenital Generalised Lipodystrophy Type 4 11
Generalised Congenital Lipodystrophy Type 4 11
Generalized Congenital Lipodystrophy Type 4 11
Congenital Generalized Lipodystrophy 4 73
Gcl4 19

Characteristics:


Inheritance:

Autosomal recessive 57

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
onset in infancy or early childhood
sudden death due to cardiac arrhythmia may occur


Classifications:



Summaries for Lipodystrophy, Congenital Generalized, Type 4

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) (Updated 08-Dec-2022)

MalaCards based summary: Lipodystrophy, Congenital Generalized, Type 4, also known as congenital generalized lipodystrophy type 4, is related to lipodystrophy, congenital generalized, type 1 and berardinelli-seip congenital lipodystrophy, and has symptoms including constipation, myalgia and generalized muscle weakness. An important gene associated with Lipodystrophy, Congenital Generalized, Type 4 is CAVIN1 (Caveolae Associated Protein 1), and among its related pathways/superpathways are PDGFR-alpha signaling pathway and Congenital generalized lipodystrophy. Affiliated tissues include skeletal muscle, smooth muscle and liver, and related phenotypes are hirsutism and scoliosis

UniProtKB/Swiss-Prot: 73 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.

GARD: 19 A rare syndrome characterized by almost complete absence of body fat, accentuated muscularity, insulin-resistant diabetes, hyperlipidemia, hepatomegaly, and hypermetabolism.

Disease Ontology: 11 A congenital generalized lipodystrophy that has material basis in an autosomal recessive mutation of CAVIN1 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:

(show all 45)
# Related Disease Score Top Affiliating Genes
1 lipodystrophy, congenital generalized, type 1 29.6 CAVIN1 BSCL2 AGPAT2
2 berardinelli-seip congenital lipodystrophy 29.4 CAV1 BSCL2 AGPAT2
3 congenital generalized lipodystrophy 28.7 CAVIN4 CAVIN1 CAV3 CAV1 BSCL2 AGPAT2
4 catecholaminergic polymorphic ventricular tachycardia 10.3
5 congenital hemidysplasia with ichthyosiform erythroderma and limb defects 10.1
6 leptin deficiency or dysfunction 10.1
7 atrial fibrillation 10.1
8 scoliosis 10.1
9 rickets 10.1
10 hyperuricemia 10.1
11 gastrointestinal system disease 10.1
12 cataract 10.1
13 learning disability 10.1
14 fatty liver disease 10.1
15 children's interstitial lung disease 10.1
16 lipodystrophy, familial partial, type 1 10.1 CAVIN1 AGPAT2
17 hypertriglyceridemia 1 10.1
18 pyloric stenosis 10.1
19 myopathy 10.1
20 lipodystrophy, familial partial, type 4 10.0 CAVIN1 AGPAT2
21 adiposis dolorosa 10.0 BSCL2 AGPAT2
22 mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome 10.0 BSCL2 AGPAT2
23 donohue syndrome 9.9 BSCL2 AGPAT2
24 acanthosis nigricans 9.9
25 cardiac conduction defect 9.9
26 batten-turner congenital myopathy 9.9
27 fatty liver disease 1 9.9
28 muscle hypertrophy 9.9
29 non-alcoholic fatty liver disease 9.9
30 hypertrophic pyloric stenosis 9.9
31 long qt syndrome 9.9
32 muscular dystrophy 9.9
33 umbilical hernia 9.9 BSCL2 AGPAT2
34 familial partial lipodystrophy 9.9 BSCL2 AGPAT2
35 acquired generalized lipodystrophy 9.8 CAVIN1 BSCL2 AGPAT2
36 lipodystrophy, familial partial, type 3 9.8 CAVIN1 BSCL2 AGPAT2
37 pigmentation disease 9.8 CAVIN1 BSCL2 AGPAT2
38 rippling muscle disease 2 9.8 CAV3 CAV1
39 isolated elevated serum creatine phosphokinase levels 9.7 CAV3 CAV1
40 hypertrophic cardiomyopathy 9.6 CAV3 BSCL2 AGPAT2
41 malignant hyperthermia 9.6 CAV3 CAV1
42 lipodystrophy, congenital generalized, type 3 9.4 CAVIN1 CAV1 BSCL2 AGPAT2
43 complete generalized lipodystrophy 9.4 CAVIN1 CAV1 BSCL2 AGPAT2
44 lipodystrophy, congenital generalized, type 2 9.4 CAVIN1 CAV1 BSCL2 AGPAT2
45 lipodystrophy, familial partial, type 2 9.4 CAVIN1 CAV1 BSCL2 AGPAT2

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

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

30 (show all 44)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hirsutism 30 Occasional (7.5%) HP:0001007
2 scoliosis 30 Very rare (1%) HP:0002650
3 constipation 30 Very rare (1%) HP:0002019
4 muscle weakness 30 Very rare (1%) HP:0001324
5 hyperlordosis 30 Very rare (1%) HP:0003307
6 splenomegaly 30 Very rare (1%) HP:0001744
7 hepatomegaly 30 Very rare (1%) HP:0002240
8 flexion contracture 30 Very rare (1%) HP:0001371
9 hypertriglyceridemia 30 Very rare (1%) HP:0002155
10 hepatic steatosis 30 Very rare (1%) HP:0001397
11 hyperinsulinemia 30 Very rare (1%) HP:0000842
12 elevated circulating creatine kinase concentration 30 Very rare (1%) HP:0003236
13 lipodystrophy 30 Very rare (1%) HP:0009125
14 muscle stiffness 30 Very rare (1%) HP:0003552
15 myalgia 30 Very rare (1%) HP:0003326
16 recurrent pneumonia 30 Very rare (1%) HP:0006532
17 skeletal muscle hypertrophy 30 Very rare (1%) HP:0003712
18 accelerated skeletal maturation 30 Very rare (1%) HP:0005616
19 atrial fibrillation 30 Very rare (1%) HP:0005110
20 increased variability in muscle fiber diameter 30 Very rare (1%) HP:0003557
21 centrally nucleated skeletal muscle fibers 30 Very rare (1%) HP:0003687
22 prominent umbilicus 30 Very rare (1%) HP:0001544
23 acral overgrowth 30 Very rare (1%) HP:0033794
24 muscle mounding 30 Very rare (1%) HP:0003719
25 failure to thrive 30 HP:0001508
26 dysphagia 30 HP:0002015
27 osteopenia 30 HP:0000938
28 osteoporosis 30 HP:0000939
29 elevated hepatic transaminase 30 HP:0002910
30 prolonged qt interval 30 HP:0001657
31 spinal rigidity 30 HP:0003306
32 pyloric stenosis 30 HP:0002021
33 feeding difficulties 30 HP:0011968
34 muscular dystrophy 30 HP:0003560
35 recurrent infections 30 HP:0002719
36 tachycardia 30 HP:0001649
37 generalized muscle weakness 30 HP:0003324
38 insulin resistance 30 HP:0000855
39 proximal muscle weakness 30 HP:0003701
40 decreased circulating iga level 30 HP:0002720
41 ileus 30 HP:0002595
42 bradycardia 30 HP:0001662
43 exercise intolerance 30 HP:0003546
44 vascular dilatation 30 HP:0002617

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Growth Other:
failure to thrive

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

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

Cardiovascular Heart:
arrhythmia
atrial fibrillation
tachycardia
bradycardia
long qt syndrome

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

Laboratory Abnormalities:
increased serum creatine kinase
increased serum triglycerides
abnormal liver enzymes

Skeletal Spine:
scoliosis
hyperlordosis
spinal rigidity
atlanto-axial instability

Skeletal:
osteopenia
osteoporosis
joint contractures

Abdomen Liver:
hepatomegaly
fatty liver

Muscle Soft Tissue:
muscle stiffness
myalgia
exercise intolerance
muscle weakness, proximal
muscle hypertrophy
more
Skin Nails Hair Hair:
acanthosis nigricans
hirsutism (less common)

Abdomen External Features:
prominent umbilicus
protruding abdomen

Clinical features from OMIM®:

613327 (Updated 08-Dec-2022)

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


constipation; myalgia; generalized muscle weakness; muscular stiffness

MGI Mouse Phenotypes related to Lipodystrophy, Congenital Generalized, Type 4:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 adipose tissue MP:0005375 9.26 AGPAT2 BSCL2 CAV1 CAVIN3
2 cardiovascular system MP:0005385 9.1 BSCL2 CAV1 CAV3 CAVIN1 CAVIN3 CAVIN4

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 Congenital Generalized Lipodystrophy Type 4 28 CAVIN1

Anatomical Context for Lipodystrophy, Congenital Generalized, Type 4

Organs/tissues related to Lipodystrophy, Congenital Generalized, Type 4:

MalaCards : Skeletal Muscle, Smooth Muscle, Liver
ODiseA: Adipose-Subcutaneous, Adipose, Adipose-Visceral

Publications for Lipodystrophy, Congenital Generalized, Type 4

Articles related to Lipodystrophy, Congenital Generalized, Type 4:

(show all 35)
# Title Authors PMID Year
1
Congenital generalized lipodystrophy, type 4 (CGL4) associated with myopathy due to novel PTRF mutations. 62 57 5
20684003 2010
2
Fatal cardiac arrhythmia and long-QT syndrome in a new form of congenital generalized lipodystrophy with muscle rippling (CGL4) due to PTRF-CAVIN mutations. 62 57 5
20300641 2010
3
Human PTRF mutations cause secondary deficiency of caveolins resulting in muscular dystrophy with generalized lipodystrophy. 57 5
19726876 2009
4
Novel subtype of congenital generalized lipodystrophy associated with muscular weakness and cervical spine instability. 57 5
18698612 2008
5
Heterogeneity for congenital generalized lipodystrophy in seventeen patients from Oman. 57 5
12116229 2002
6
Deletion of Cavin/PTRF causes global loss of caveolae, dyslipidemia, and glucose intolerance. 57
18840361 2008
7
Percussion myoedema in a Pakistani boy with Berardinelli Seip lipodystrophy syndrome. 57
8313629 1993
8
Child With Congenital Generalized Lipodystrophy Type 4 for Electrophysiology Study and Catheter Ablation: Anesthetic Challenges. 62
35989241 2022
9
Congenital generalized lipodystrophy type 4 due to a novel PTRF/CAVIN1 pathogenic variant in a child: effects of metreleptin substitution. 62
35405042 2022
10
Successful treatment of severe hypertriglyceridemia with icosapent ethyl in a case of congenital generalized lipodystrophy type 4. 62
35417107 2022
11
Case Report: Precision COVID-19 Immunization Strategy to Overcome Individual Fragility: A Case of Generalized Lipodystrophy Type 4. 62
35464479 2022
12
Congenital generalized lipodystrophy: The evaluation of clinical follow-up findings in a series of five patients with type 1 and two patients with type 4. 62
31778856 2020
13
Unusual clinical features associated with congenital generalized lipodystrophy type 4 in a patient with a novel E211X CAVIN1 gene variant. 62
32467771 2020
14
Postmortem Findings in a Young Man With Congenital Generalized Lipodystrophy, Type 4 Due to CAVIN1 Mutations. 62
30476128 2019
15
Metreleptin treatment for congenital generalized lipodystrophy type 4 (CGL4): a case report. 62
30745727 2019
16
Characteristic findings of skeletal muscle MRI in caveolinopathies. 62
30174172 2018
17
Determining residual adipose tissue characteristics with MRI in patients with various subtypes of lipodystrophy. 62
29044029 2017
18
Clinical spectra of neuromuscular manifestations in patients with lipodystrophy: A multicenter study. 62
28754454 2017
19
Natural History of Congenital Generalized Lipodystrophy: A Nationwide Study From Turkey. 62
27144933 2016
20
Maladaptative Autophagy Impairs Adipose Function in Congenital Generalized Lipodystrophy due to Cavin-1 Deficiency. 62
27144934 2016
21
Spectrum of clinical manifestations in two young Turkish patients with congenital generalized lipodystrophy type 4. 62
27167729 2016
22
PTRF/Cavin-1 Deficiency Causes Cardiac Dysfunction Accompanied by Cardiomyocyte Hypertrophy and Cardiac Fibrosis. 62
27612189 2016
23
Region-specific variation in the properties of skeletal adipocytes reveals regulated and constitutive marrow adipose tissues. 62
26245716 2015
24
Novel nonsense mutation in the PTRF gene underlies congenital generalized lipodystrophy in a consanguineous Saudi family. 62
25721873 2015
25
Novel PTRF mutation in a child with mild myopathy and very mild congenital lipodystrophy. 62
24024685 2013
26
Congenital generalized lipodystrophy type 4 with muscular dystrophy: clinical and pathological manifestations in early childhood. 62
23489663 2013
27
A Patient with Congenital Generalized Lipodystrophy Due To a Novel Mutation in BSCL2: Indications for Secondary Mitochondrial Dysfunction. 62
23430896 2012
28
A Japanese child with asymptomatic elevation of serum creatine kinase shows PTRF-CAVIN mutation matching with congenital generalized lipodystrophy type 4. 62
20638880 2010
29
Dimerization of two novel apoptosisinducing proteins and its function in regulating cell apoptosis. 62
18763137 2003
30
Enhanced expression of glucose transporter GLUT3 in tumorigenic HeLa cell hybrids associated with tumor suppressor dysfunction. 62
10336639 1999
31
Tumorigenic conversion resulting from inhibition of apoptosis in a nontumorigenic HeLa-derived hybrid cell line. 62
10213483 1999
32
Reduction of caveolin-1 expression in tumorigenic human cell hybrids. 62
9685730 1998
33
Altered N-glycosylation of glucose transporter-1 associated with radiation-induced tumorigenesis of human cell hybrids. 62
9388489 1997
34
A tumor-associated glycosylation change in the glucose transporter GLUT1 controlled by tumor suppressor function in human cell hybrids. 62
8719880 1995
35
Identification of the HeLa tumor-associated antigen, p75/150, as intestinal alkaline phosphatase and evidence for its transcriptional regulation. 62
2304898 1990

Variations for Lipodystrophy, Congenital Generalized, Type 4

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

5 (show top 50) (show all 73)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CAVIN1 NM_012232.6(CAVIN1):c.696dup (p.Lys233fs) DUP Pathogenic
6601 rs1427062799 GRCh37: 17:40557181-40557182
GRCh38: 17:42405163-42405164
2 CAVIN1 NM_012232.6(CAVIN1):c.526del (p.Glu176fs) DEL Pathogenic
6602 rs1567776490 GRCh37: 17:40557352-40557352
GRCh38: 17:42405334-42405334
3 CAVIN1 NM_012232.6(CAVIN1):c.160del (p.Val54fs) DEL Pathogenic
6603 rs1567782465 GRCh37: 17:40574956-40574956
GRCh38: 17:42422938-42422938
4 CAVIN1 NM_012232.6(CAVIN1):c.362dup (p.Lys122fs) DUP Pathogenic
6604 rs1489315815 GRCh37: 17:40574753-40574754
GRCh38: 17:42422735-42422736
5 CAVIN1 NM_012232.6(CAVIN1):c.135del (p.Lys45fs) DEL Pathogenic
30327 rs1567782493 GRCh37: 17:40574981-40574981
GRCh38: 17:42422963-42422963
6 CAVIN1 NM_012232.6(CAVIN1):c.478_481dup (p.Lys161fs) DUP Pathogenic
30328 rs1567776514 GRCh37: 17:40557396-40557397
GRCh38: 17:42405378-42405379
7 CAVIN1 NM_012232.6(CAVIN1):c.518_521del (p.Lys173fs) DEL Pathogenic
30329 rs1207466199 GRCh37: 17:40557357-40557360
GRCh38: 17:42405339-42405342
8 CAVIN1 NM_012232.6(CAVIN1):c.471+1G>T SNV Pathogenic
30330 rs866504928 GRCh37: 17:40574644-40574644
GRCh38: 17:42422626-42422626
9 CAVIN1 NM_012232.6(CAVIN1):c.550G>T (p.Glu184Ter) SNV Likely Pathogenic
982092 rs199720089 GRCh37: 17:40557328-40557328
GRCh38: 17:42405310-42405310
10 CAVIN1 NM_012232.6(CAVIN1):c.462del (p.Met154fs) DEL Likely Pathogenic
1324970 GRCh37: 17:40574654-40574654
GRCh38: 17:42422636-42422636
11 CAVIN1 NM_012232.6(CAVIN1):c.168C>A (p.Ser56Arg) SNV Uncertain Significance
193359 rs139531639 GRCh37: 17:40574948-40574948
GRCh38: 17:42422930-42422930
12 CAVIN1 NM_012232.6(CAVIN1):c.*1549C>T SNV Uncertain Significance
891261 rs781740643 GRCh37: 17:40555156-40555156
GRCh38: 17:42403138-42403138
13 CAVIN1 NM_012232.6(CAVIN1):c.*158A>T SNV Uncertain Significance
891311 rs144298843 GRCh37: 17:40556547-40556547
GRCh38: 17:42404529-42404529
14 CAVIN1 NM_012232.6(CAVIN1):c.*31C>G SNV Uncertain Significance
891313 rs775795568 GRCh37: 17:40556674-40556674
GRCh38: 17:42404656-42404656
15 CAVIN1 NM_012232.6(CAVIN1):c.540G>A (p.Glu180=) SNV Uncertain Significance
436447 rs143511306 GRCh37: 17:40557338-40557338
GRCh38: 17:42405320-42405320
16 CAVIN1 NM_012232.6(CAVIN1):c.923A>G (p.Tyr308Cys) SNV Uncertain Significance
211974 rs146799286 GRCh37: 17:40556955-40556955
GRCh38: 17:42404937-42404937
17 CAVIN1 NM_012232.6(CAVIN1):c.462G>C (p.Met154Ile) SNV Uncertain Significance
323279 rs148239625 GRCh37: 17:40574654-40574654
GRCh38: 17:42422636-42422636
18 CAVIN1 NM_012232.6(CAVIN1):c.*810C>T SNV Uncertain Significance
889076 rs558718636 GRCh37: 17:40555895-40555895
GRCh38: 17:42403877-42403877
19 CAVIN1 NM_012232.6(CAVIN1):c.514C>G (p.Leu172Val) SNV Uncertain Significance
889146 rs200954375 GRCh37: 17:40557364-40557364
GRCh38: 17:42405346-42405346
20 CAVIN1 NM_012232.6(CAVIN1):c.468C>T (p.Tyr156=) SNV Uncertain Significance
889147 rs2085559084 GRCh37: 17:40574648-40574648
GRCh38: 17:42422630-42422630
21 CAVIN1 NM_012232.6(CAVIN1):c.232C>A (p.Arg78=) SNV Uncertain Significance
889148 rs750373957 GRCh37: 17:40574884-40574884
GRCh38: 17:42422866-42422866
22 CAVIN1 NM_012232.6(CAVIN1):c.197A>G (p.Asp66Gly) SNV Uncertain Significance
889149 rs2085564424 GRCh37: 17:40574919-40574919
GRCh38: 17:42422901-42422901
23 CAVIN1 NM_012232.6(CAVIN1):c.*1955T>C SNV Uncertain Significance
889709 rs1266465226 GRCh37: 17:40554750-40554750
GRCh38: 17:42402732-42402732
24 CAVIN1 NM_012232.6(CAVIN1):c.*1895C>G SNV Uncertain Significance
889711 rs1240074915 GRCh37: 17:40554810-40554810
GRCh38: 17:42402792-42402792
25 CAVIN1 NM_012232.6(CAVIN1):c.*697A>C SNV Uncertain Significance
889774 rs867384678 GRCh37: 17:40556008-40556008
GRCh38: 17:42403990-42403990
26 CAVIN1 NM_012232.6(CAVIN1):c.12C>T (p.Pro4=) SNV Uncertain Significance
889826 rs780083218 GRCh37: 17:40575104-40575104
GRCh38: 17:42423086-42423086
27 CAVIN1 NM_012232.6(CAVIN1):c.*1313G>T SNV Uncertain Significance
892452 rs2085423533 GRCh37: 17:40555392-40555392
GRCh38: 17:42403374-42403374
28 CAVIN1 NM_012232.6(CAVIN1):c.*1214G>A SNV Uncertain Significance
892453 rs550372098 GRCh37: 17:40555491-40555491
GRCh38: 17:42403473-42403473
29 CAVIN1 NM_012232.6(CAVIN1):c.*1201T>G SNV Uncertain Significance
892454 rs2085424170 GRCh37: 17:40555504-40555504
GRCh38: 17:42403486-42403486
30 CAVIN1 NM_012232.6(CAVIN1):c.*1110C>T SNV Uncertain Significance
892455 rs776275443 GRCh37: 17:40555595-40555595
GRCh38: 17:42403577-42403577
31 CAVIN1 NM_012232.6(CAVIN1):c.*999C>T SNV Uncertain Significance
892456 rs759379641 GRCh37: 17:40555706-40555706
GRCh38: 17:42403688-42403688
32 CAVIN1 NM_012232.6(CAVIN1):c.859C>G (p.Arg287Gly) SNV Uncertain Significance
892507 rs146596349 GRCh37: 17:40557019-40557019
GRCh38: 17:42405001-42405001
33 CAVIN1 NM_012232.6(CAVIN1):c.679C>T (p.Arg227Trp) SNV Uncertain Significance
892508 rs747339228 GRCh37: 17:40557199-40557199
GRCh38: 17:42405181-42405181
34 CAVIN1 NM_012232.6(CAVIN1):c.576C>G (p.Pro192=) SNV Uncertain Significance
892509 rs559527150 GRCh37: 17:40557302-40557302
GRCh38: 17:42405284-42405284
35 CAVIN1 NM_012232.6(CAVIN1):c.*195C>G SNV Uncertain Significance
323274 rs143895719 GRCh37: 17:40556510-40556510
GRCh38: 17:42404492-42404492
36 CAVIN1 NM_012232.6(CAVIN1):c.1053C>T (p.Gly351=) SNV Uncertain Significance
323277 rs374317281 GRCh37: 17:40556825-40556825
GRCh38: 17:42404807-42404807
37 CAVIN1 NM_012232.6(CAVIN1):c.*1990A>C SNV Uncertain Significance
323255 rs886052946 GRCh37: 17:40554715-40554715
GRCh38: 17:42402697-42402697
38 CAVIN1 NM_012232.6(CAVIN1):c.-50C>T SNV Uncertain Significance
323280 rs548579969 GRCh37: 17:40575165-40575165
GRCh38: 17:42423147-42423147
39 CAVIN1 NM_012232.6(CAVIN1):c.836C>G (p.Thr279Arg) SNV Uncertain Significance
323278 rs772598451 GRCh37: 17:40557042-40557042
GRCh38: 17:42405024-42405024
40 CAVIN1 NM_012232.6(CAVIN1):c.*1232G>A SNV Uncertain Significance
323264 rs886052947 GRCh37: 17:40555473-40555473
GRCh38: 17:42403455-42403455
41 CAVIN1 NM_012232.6(CAVIN1):c.*522G>A SNV Uncertain Significance
323270 rs534002973 GRCh37: 17:40556183-40556183
GRCh38: 17:42404165-42404165
42 CAVIN1 NM_012232.6(CAVIN1):c.*143C>G SNV Uncertain Significance
323276 rs148241491 GRCh37: 17:40556562-40556562
GRCh38: 17:42404544-42404544
43 CAVIN1 NM_012232.6(CAVIN1):c.*1185T>C SNV Uncertain Significance
323265 rs886052948 GRCh37: 17:40555520-40555520
GRCh38: 17:42403502-42403502
44 CAVIN1 NM_012232.6(CAVIN1):c.*1479G>A SNV Uncertain Significance
323262 rs372899540 GRCh37: 17:40555226-40555226
GRCh38: 17:42403208-42403208
45 CAVIN1 NM_012232.6(CAVIN1):c.-143C>G SNV Uncertain Significance
323281 rs886052949 GRCh37: 17:40575258-40575258
GRCh38: 17:42423240-42423240
46 CAVIN1 NM_012232.6(CAVIN1):c.*2115G>T SNV Uncertain Significance
889013 rs113990379 GRCh37: 17:40554590-40554590
GRCh38: 17:42402572-42402572
47 CAVIN1 NM_012232.6(CAVIN1):c.*2211G>A SNV Likely Benign
323253 rs74685015 GRCh37: 17:40554494-40554494
GRCh38: 17:42402476-42402476
48 CAVIN1 NM_012232.6(CAVIN1):c.*1856C>T SNV Likely Benign
323256 rs9252 GRCh37: 17:40554849-40554849
GRCh38: 17:42402831-42402831
49 CAVIN1 NM_012232.6(CAVIN1):c.*1446G>C SNV Likely Benign
323263 rs4796583 GRCh37: 17:40555259-40555259
GRCh38: 17:42403241-42403241
50 CAVIN1 NM_012232.6(CAVIN1):c.*839G>A SNV Likely Benign
889075 rs181876690 GRCh37: 17:40555866-40555866
GRCh38: 17:42403848-42403848

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

Pathways related to Lipodystrophy, Congenital Generalized, Type 4 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.28 CAV3 CAV1
2 10.15 CAVIN1 CAV1 BSCL2 AGPAT2

GO Terms for Lipodystrophy, Congenital Generalized, Type 4

Cellular components related to Lipodystrophy, Congenital Generalized, Type 4 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein-containing complex GO:0032991 9.87 CAVIN3 CAVIN1 CAV3 CAV1
2 membrane raft GO:0045121 9.73 CAVIN1 CAV3 CAV1
3 endoplasmic reticulum GO:0005783 9.7 AGPAT2 BSCL2 CAV1 CAV3 CAVIN1 GASK1A
4 sarcolemma GO:0042383 9.63 CAVIN4 CAV3 CAV1
5 caveola GO:0005901 9.4 GASK1A CAVIN4 CAVIN3 CAVIN1 CAV3 CAV1

Biological processes related to Lipodystrophy, Congenital Generalized, Type 4 according to GeneCards Suite gene sharing:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 response to ischemia GO:0002931 9.8 CAV3 CAV1
2 negative regulation of MAP kinase activity GO:0043407 9.78 CAV3 CAV1
3 negative regulation of MAPK cascade GO:0043409 9.76 CAV3 CAV1
4 regulation of cytosolic calcium ion concentration GO:0051480 9.73 CAV3 CAV1
5 triglyceride metabolic process GO:0006641 9.71 CAV3 CAV1
6 lipid storage GO:0019915 9.67 BSCL2 CAV1
7 muscle cell cellular homeostasis GO:0046716 9.62 CAV3 CAV1
8 negative regulation of potassium ion transmembrane transport GO:1901380 9.56 CAV3 CAV1
9 negative regulation of nitric-oxide synthase activity GO:0051001 9.46 CAV3 CAV1
10 regulation of cardiac muscle cell action potential involved in regulation of contraction GO:0098909 9.26 CAV3 CAV1
11 caveola assembly GO:0070836 8.92 CAV3 CAV1

Molecular functions related to Lipodystrophy, Congenital Generalized, Type 4 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nitric-oxide synthase binding GO:0050998 8.92 CAV3 CAV1

Sources for Lipodystrophy, Congenital Generalized, Type 4

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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