CGL4
MCID: LPD035
MIFTS: 44

Lipodystrophy, Congenital Generalized, Type 4 (CGL4)

Categories: Endocrine diseases, Fetal diseases, Genetic diseases, Immune diseases, Metabolic diseases, Muscle diseases, Rare diseases, Skin 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 20 29 13 6 39 70
Congenital Generalized Lipodystrophy Type 4 12 20 15
Cgl4 57 20 72
Lipodystrophy, Berardinelli-Seip Congenital, Type 4, with Muscular Dystrophy 57 20
Berardinelli-Seip Congenital Lipodystrophy, Type 4, with Muscular Dystrophy 57 20
Berardinelli-Seip Congenital Lipodystrophy Type 4 with Muscular Dystrophy 12 72
Generalized Congenital Lipodystrophy with Myopathy 12 20
Generalised Congenital Lipodystrophy with Myopathy 12
Berardinelli-Seip Congenital Lipodystrophy Type 4 72
Congenital Generalised Lipodystrophy Type 4 12
Generalised Congenital Lipodystrophy Type 4 12
Generalized Congenital Lipodystrophy Type 4 12
Congenital Generalized Lipodystrophy 4 72
Gcl4 20

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

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


HPO:

31
lipodystrophy, congenital generalized, type 4:
Inheritance autosomal recessive inheritance
Onset and clinical course infantile onset


Classifications:



Summaries for Lipodystrophy, Congenital Generalized, Type 4

UniProtKB/Swiss-Prot : 72 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 congenital generalized lipodystrophy type 4, is related to mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome and lipodystrophy, congenital generalized, type 1, 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 Bacterial invasion of epithelial cells and PDGFR-alpha signaling pathway. Affiliated tissues include liver, smooth muscle and skeletal muscle, and related phenotypes are hirsutism and failure to thrive

Disease Ontology : 12 A congenital generalized lipodystrophy that has material basis in an autosomal recessive mutation of CAVIN1 on chromosome 17q21.2.

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 05-Apr-2021)

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 mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome 29.8 BSCL2 AGPAT2
2 lipodystrophy, congenital generalized, type 1 29.2 CAVIN1 BSCL2 AGPAT2
3 berardinelli-seip congenital lipodystrophy 29.0 CAVIN1 CAV1 BSCL2 AGPAT2
4 congenital generalized lipodystrophy 28.8 CAVIN1 CAV3 CAV1 BSCL2 AGPAT2
5 catecholaminergic polymorphic ventricular tachycardia 10.3
6 coronary heart disease 1 10.1
7 scoliosis 10.1
8 rickets 10.1
9 hyperuricemia 10.1
10 cataract 10.1
11 learning disability 10.1
12 dysphagia 10.1
13 hypertriglyceridemia, familial 10.0
14 pyloric stenosis 10.0
15 myopathy 10.0
16 autosomal dominant limb-girdle muscular dystrophy 10.0 CAV3 CAV1
17 timothy syndrome 9.9 CAV3 CAV1
18 acanthosis nigricans 9.9
19 cardiac arrhythmia 9.9
20 cardiac conduction defect 9.9
21 batten-turner congenital myopathy 9.9
22 fatty liver disease, nonalcoholic 1 9.9
23 muscle hypertrophy 9.9
24 autosomal recessive disease 9.9
25 non-alcoholic fatty liver disease 9.9
26 hypertrophic pyloric stenosis 9.9
27 long qt syndrome 9.9
28 muscular dystrophy 9.9
29 isolated elevated serum creatine phosphokinase levels 9.8 CAV3 CAV1
30 acquired lipodystrophy 9.8 CAV1 BSCL2
31 adiposis dolorosa 9.8 BSCL2 AGPAT2
32 lipodystrophy, familial partial, type 3 9.8 BSCL2 AGPAT2
33 donohue syndrome 9.7 BSCL2 AGPAT2
34 umbilical hernia 9.7 BSCL2 AGPAT2
35 malignant hyperthermia 9.7 CAV3 CAV1
36 familial partial lipodystrophy 9.7 BSCL2 AGPAT2
37 neuronopathy, distal hereditary motor, type va 9.6 BSCL2 AGPAT2
38 lipodystrophy, familial partial, type 1 9.6 CAVIN1 BSCL2 AGPAT2
39 acquired generalized lipodystrophy 9.6 CAVIN1 BSCL2 AGPAT2
40 pigmentation disease 9.6 CAVIN1 BSCL2 AGPAT2
41 lipodystrophy, familial partial, type 2 9.6 CAVIN1 BSCL2 AGPAT2
42 lipodystrophy, congenital generalized, type 3 9.3 CAVIN1 CAV1 BSCL2 AGPAT2
43 complete generalized lipodystrophy 9.3 CAVIN1 CAV1 BSCL2 AGPAT2
44 lipodystrophy, familial partial, type 5 9.3 CAVIN1 CAV1 BSCL2 AGPAT2
45 lipodystrophy, congenital generalized, type 2 9.3 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:

31 (show all 39)
# Description HPO Frequency HPO Source Accession
1 hirsutism 31 occasional (7.5%) HP:0001007
2 failure to thrive 31 HP:0001508
3 scoliosis 31 HP:0002650
4 dysphagia 31 HP:0002015
5 constipation 31 HP:0002019
6 osteopenia 31 HP:0000938
7 hyperlordosis 31 HP:0003307
8 splenomegaly 31 HP:0001744
9 hepatomegaly 31 HP:0002240
10 flexion contracture 31 HP:0001371
11 hypertriglyceridemia 31 HP:0002155
12 osteoporosis 31 HP:0000939
13 hepatic steatosis 31 HP:0001397
14 elevated hepatic transaminase 31 HP:0002910
15 hyperinsulinemia 31 HP:0000842
16 prolonged qt interval 31 HP:0001657
17 elevated serum creatine kinase 31 HP:0003236
18 spinal rigidity 31 HP:0003306
19 lipodystrophy 31 HP:0009125
20 muscle stiffness 31 HP:0003552
21 myalgia 31 HP:0003326
22 pyloric stenosis 31 HP:0002021
23 skeletal muscle hypertrophy 31 HP:0003712
24 acanthosis nigricans 31 HP:0000956
25 feeding difficulties 31 HP:0011968
26 muscular dystrophy 31 HP:0003560
27 recurrent infections 31 HP:0002719
28 atrial fibrillation 31 HP:0005110
29 tachycardia 31 HP:0001649
30 generalized muscle weakness 31 HP:0003324
31 insulin resistance 31 HP:0000855
32 proximal muscle weakness 31 HP:0003701
33 decreased circulating iga level 31 HP:0002720
34 ileus 31 HP:0002595
35 exercise intolerance 31 HP:0003546
36 bradycardia 31 HP:0001662
37 prominent umbilicus 31 HP:0001544
38 vascular dilatation 31 HP:0002617
39 muscle mounding 31 HP:0003719

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
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 05-Apr-2021)

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


constipation; myalgia; generalized muscle weakness; muscular stiffness

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:

40
Liver, Smooth Muscle, Skeletal Muscle

Publications for Lipodystrophy, Congenital Generalized, Type 4

Articles related to Lipodystrophy, Congenital Generalized, Type 4:

(show all 25)
# Title Authors PMID Year
1
Congenital generalized lipodystrophy, type 4 (CGL4) associated with myopathy due to novel PTRF mutations. 61 6 57
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. 61 57 6
20300641 2010
3
Human PTRF mutations cause secondary deficiency of caveolins resulting in muscular dystrophy with generalized lipodystrophy. 6 57
19726876 2009
4
Novel subtype of congenital generalized lipodystrophy associated with muscular weakness and cervical spine instability. 6 57
18698612 2008
5
Heterogeneity for congenital generalized lipodystrophy in seventeen patients from Oman. 57 6
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
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. 61
31778856 2020
9
Postmortem Findings in a Young Man With Congenital Generalized Lipodystrophy, Type 4 Due to CAVIN1 Mutations. 61
30476128 2019
10
Metreleptin treatment for congenital generalized lipodystrophy type 4 (CGL4): a case report. 61
30745727 2019
11
Determining residual adipose tissue characteristics with MRI in patients with various subtypes of lipodystrophy. 61
29044029 2017
12
Maladaptative Autophagy Impairs Adipose Function in Congenital Generalized Lipodystrophy due to Cavin-1 Deficiency. 61
27144934 2016
13
Natural History of Congenital Generalized Lipodystrophy: A Nationwide Study From Turkey. 61
27144933 2016
14
PTRF/Cavin-1 Deficiency Causes Cardiac Dysfunction Accompanied by Cardiomyocyte Hypertrophy and Cardiac Fibrosis. 61
27612189 2016
15
Novel nonsense mutation in the PTRF gene underlies congenital generalized lipodystrophy in a consanguineous Saudi family. 61
25721873 2015
16
Novel PTRF mutation in a child with mild myopathy and very mild congenital lipodystrophy. 61
24024685 2013
17
A Patient with Congenital Generalized Lipodystrophy Due To a Novel Mutation in BSCL2: Indications for Secondary Mitochondrial Dysfunction. 61
23430896 2012
18
A Japanese child with asymptomatic elevation of serum creatine kinase shows PTRF-CAVIN mutation matching with congenital generalized lipodystrophy type 4. 61
20638880 2010
19
Dimerization of two novel apoptosisinducing proteins and its function in regulating cell apoptosis. 61
18763137 2003
20
Enhanced expression of glucose transporter GLUT3 in tumorigenic HeLa cell hybrids associated with tumor suppressor dysfunction. 61
10336639 1999
21
Tumorigenic conversion resulting from inhibition of apoptosis in a nontumorigenic HeLa-derived hybrid cell line. 61
10213483 1999
22
Reduction of caveolin-1 expression in tumorigenic human cell hybrids. 61
9685730 1998
23
Altered N-glycosylation of glucose transporter-1 associated with radiation-induced tumorigenesis of human cell hybrids. 61
9388489 1997
24
A tumor-associated glycosylation change in the glucose transporter GLUT1 controlled by tumor suppressor function in human cell hybrids. 61
8719880 1995
25
Identification of the HeLa tumor-associated antigen, p75/150, as intestinal alkaline phosphatase and evidence for its transcriptional regulation. 61
2304898 1990

Variations for Lipodystrophy, Congenital Generalized, Type 4

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

6 (show top 50) (show all 72)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CAVIN1 NM_012232.6(CAVIN1):c.526del (p.Glu176fs) Deletion Pathogenic 6602 rs1567776490 GRCh37: 17:40557352-40557352
GRCh38: 17:42405334-42405334
2 CAVIN1 NM_012232.6(CAVIN1):c.160del (p.Val54fs) Deletion Pathogenic 6603 rs1567782465 GRCh37: 17:40574956-40574956
GRCh38: 17:42422938-42422938
3 CAVIN1 NM_012232.6(CAVIN1):c.135del (p.Lys45fs) Deletion Pathogenic 30327 rs1567782493 GRCh37: 17:40574981-40574981
GRCh38: 17:42422963-42422963
4 CAVIN1 NM_012232.6(CAVIN1):c.518_521del (p.Lys173fs) Deletion Pathogenic 30329 rs1207466199 GRCh37: 17:40557357-40557360
GRCh38: 17:42405339-42405342
5 CAVIN1 NM_012232.6(CAVIN1):c.471+1G>T SNV Pathogenic 30330 rs866504928 GRCh37: 17:40574644-40574644
GRCh38: 17:42422626-42422626
6 CAVIN1 NM_012232.6(CAVIN1):c.696dup (p.Lys233fs) Duplication Pathogenic 6601 rs1427062799 GRCh37: 17:40557181-40557182
GRCh38: 17:42405163-42405164
7 CAVIN1 NM_012232.6(CAVIN1):c.362dup (p.Lys122fs) Duplication Pathogenic 6604 rs1489315815 GRCh37: 17:40574753-40574754
GRCh38: 17:42422735-42422736
8 CAVIN1 NM_012232.6(CAVIN1):c.478_481dup (p.Lys161fs) Duplication Pathogenic 30328 rs1567776514 GRCh37: 17:40557396-40557397
GRCh38: 17:42405378-42405379
9 CAVIN1 NM_012232.6(CAVIN1):c.550G>T (p.Glu184Ter) SNV Likely pathogenic 982092 GRCh37: 17:40557328-40557328
GRCh38: 17:42405310-42405310
10 CAVIN1 NM_012232.6(CAVIN1):c.168C>A (p.Ser56Arg) SNV Uncertain significance 193359 rs139531639 GRCh37: 17:40574948-40574948
GRCh38: 17:42422930-42422930
11 CAVIN1 NM_012232.6(CAVIN1):c.*31C>G SNV Uncertain significance 891313 GRCh37: 17:40556674-40556674
GRCh38: 17:42404656-42404656
12 CAVIN1 NM_012232.6(CAVIN1):c.*1313G>T SNV Uncertain significance 892452 GRCh37: 17:40555392-40555392
GRCh38: 17:42403374-42403374
13 CAVIN1 NM_012232.6(CAVIN1):c.*1214G>A SNV Uncertain significance 892453 GRCh37: 17:40555491-40555491
GRCh38: 17:42403473-42403473
14 CAVIN1 NM_012232.6(CAVIN1):c.*1201T>G SNV Uncertain significance 892454 GRCh37: 17:40555504-40555504
GRCh38: 17:42403486-42403486
15 CAVIN1 NM_012232.6(CAVIN1):c.*1110C>T SNV Uncertain significance 892455 GRCh37: 17:40555595-40555595
GRCh38: 17:42403577-42403577
16 CAVIN1 NM_012232.6(CAVIN1):c.*999C>T SNV Uncertain significance 892456 GRCh37: 17:40555706-40555706
GRCh38: 17:42403688-42403688
17 CAVIN1 NM_012232.6(CAVIN1):c.859C>G (p.Arg287Gly) SNV Uncertain significance 892507 GRCh37: 17:40557019-40557019
GRCh38: 17:42405001-42405001
18 CAVIN1 NM_012232.6(CAVIN1):c.679C>T (p.Arg227Trp) SNV Uncertain significance 892508 GRCh37: 17:40557199-40557199
GRCh38: 17:42405181-42405181
19 CAVIN1 NM_012232.6(CAVIN1):c.576C>G (p.Pro192=) SNV Uncertain significance 892509 GRCh37: 17:40557302-40557302
GRCh38: 17:42405284-42405284
20 CAVIN1 NM_012232.6(CAVIN1):c.*1895C>G SNV Uncertain significance 889711 GRCh37: 17:40554810-40554810
GRCh38: 17:42402792-42402792
21 CAVIN1 NM_012232.6(CAVIN1):c.*697A>C SNV Uncertain significance 889774 GRCh37: 17:40556008-40556008
GRCh38: 17:42403990-42403990
22 CAVIN1 NM_012232.6(CAVIN1):c.12C>T (p.Pro4=) SNV Uncertain significance 889826 GRCh37: 17:40575104-40575104
GRCh38: 17:42423086-42423086
23 CAVIN1 NM_012232.6(CAVIN1):c.*1549C>T SNV Uncertain significance 891261 GRCh37: 17:40555156-40555156
GRCh38: 17:42403138-42403138
24 CAVIN1 NM_012232.6(CAVIN1):c.*158A>T SNV Uncertain significance 891311 GRCh37: 17:40556547-40556547
GRCh38: 17:42404529-42404529
25 CAVIN1 NM_012232.6(CAVIN1):c.540G>A (p.Glu180=) SNV Uncertain significance 436447 rs143511306 GRCh37: 17:40557338-40557338
GRCh38: 17:42405320-42405320
26 CAVIN1 NM_012232.6(CAVIN1):c.923A>G (p.Tyr308Cys) SNV Uncertain significance 211974 rs146799286 GRCh37: 17:40556955-40556955
GRCh38: 17:42404937-42404937
27 CAVIN1 NM_012232.6(CAVIN1):c.462G>C (p.Met154Ile) SNV Uncertain significance 323279 rs148239625 GRCh37: 17:40574654-40574654
GRCh38: 17:42422636-42422636
28 CAVIN1 NM_012232.6(CAVIN1):c.*195C>G SNV Uncertain significance 323274 rs143895719 GRCh37: 17:40556510-40556510
GRCh38: 17:42404492-42404492
29 CAVIN1 NM_012232.6(CAVIN1):c.1053C>T (p.Gly351=) SNV Uncertain significance 323277 rs374317281 GRCh37: 17:40556825-40556825
GRCh38: 17:42404807-42404807
30 CAVIN1 NM_012232.6(CAVIN1):c.*1990A>C SNV Uncertain significance 323255 rs886052946 GRCh37: 17:40554715-40554715
GRCh38: 17:42402697-42402697
31 CAVIN1 NM_012232.6(CAVIN1):c.-50C>T SNV Uncertain significance 323280 rs548579969 GRCh37: 17:40575165-40575165
GRCh38: 17:42423147-42423147
32 CAVIN1 NM_012232.6(CAVIN1):c.836C>G (p.Thr279Arg) SNV Uncertain significance 323278 rs772598451 GRCh37: 17:40557042-40557042
GRCh38: 17:42405024-42405024
33 CAVIN1 NM_012232.6(CAVIN1):c.*1232G>A SNV Uncertain significance 323264 rs886052947 GRCh37: 17:40555473-40555473
GRCh38: 17:42403455-42403455
34 CAVIN1 NM_012232.6(CAVIN1):c.*522G>A SNV Uncertain significance 323270 rs534002973 GRCh37: 17:40556183-40556183
GRCh38: 17:42404165-42404165
35 CAVIN1 NM_012232.6(CAVIN1):c.*143C>G SNV Uncertain significance 323276 rs148241491 GRCh37: 17:40556562-40556562
GRCh38: 17:42404544-42404544
36 CAVIN1 NM_012232.6(CAVIN1):c.*1185T>C SNV Uncertain significance 323265 rs886052948 GRCh37: 17:40555520-40555520
GRCh38: 17:42403502-42403502
37 CAVIN1 NM_012232.6(CAVIN1):c.*1479G>A SNV Uncertain significance 323262 rs372899540 GRCh37: 17:40555226-40555226
GRCh38: 17:42403208-42403208
38 CAVIN1 NM_012232.6(CAVIN1):c.-143C>G SNV Uncertain significance 323281 rs886052949 GRCh37: 17:40575258-40575258
GRCh38: 17:42423240-42423240
39 CAVIN1 NM_012232.6(CAVIN1):c.*2115G>T SNV Uncertain significance 889013 GRCh37: 17:40554590-40554590
GRCh38: 17:42402572-42402572
40 CAVIN1 NM_012232.6(CAVIN1):c.*810C>T SNV Uncertain significance 889076 GRCh37: 17:40555895-40555895
GRCh38: 17:42403877-42403877
41 CAVIN1 NM_012232.6(CAVIN1):c.514C>G (p.Leu172Val) SNV Uncertain significance 889146 GRCh37: 17:40557364-40557364
GRCh38: 17:42405346-42405346
42 CAVIN1 NM_012232.6(CAVIN1):c.468C>T (p.Tyr156=) SNV Uncertain significance 889147 GRCh37: 17:40574648-40574648
GRCh38: 17:42422630-42422630
43 CAVIN1 NM_012232.6(CAVIN1):c.232C>A (p.Arg78=) SNV Uncertain significance 889148 GRCh37: 17:40574884-40574884
GRCh38: 17:42422866-42422866
44 CAVIN1 NM_012232.6(CAVIN1):c.197A>G (p.Asp66Gly) SNV Uncertain significance 889149 GRCh37: 17:40574919-40574919
GRCh38: 17:42422901-42422901
45 CAVIN1 NM_012232.6(CAVIN1):c.*1955T>C SNV Uncertain significance 889709 GRCh37: 17:40554750-40554750
GRCh38: 17:42402732-42402732
46 CAVIN1 NM_012232.6(CAVIN1):c.*1912C>T SNV Likely benign 889710 GRCh37: 17:40554793-40554793
GRCh38: 17:42402775-42402775
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 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 10.84 CAV3 CAV1
2 9.97 CAV3 CAV1

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 membrane GO:0016020 9.91 GASK1A CAVIN4 CAVIN1 CAV3 CAV1 BSCL2
2 membrane raft GO:0045121 9.43 CAVIN1 CAV3 CAV1
3 endoplasmic reticulum GO:0005783 9.43 GASK1A CAVIN1 CAV3 CAV1 BSCL2 AGPAT2
4 sarcolemma GO:0042383 9.33 CAVIN4 CAV3 CAV1
5 lipid droplet GO:0005811 9.32 CAV1 BSCL2
6 caveola GO:0005901 9.02 GASK1A CAVIN4 CAVIN1 CAV3 CAV1

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

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 muscle organ development GO:0007517 9.52 CAVIN4 CAV3
2 cholesterol homeostasis GO:0042632 9.51 CAV3 CAV1
3 positive regulation of cold-induced thermogenesis GO:0120162 9.49 CAV1 BSCL2
4 protein localization GO:0008104 9.48 CAV3 CAV1
5 negative regulation of MAP kinase activity GO:0043407 9.46 CAV3 CAV1
6 regulation of cytosolic calcium ion concentration GO:0051480 9.43 CAV3 CAV1
7 triglyceride metabolic process GO:0006641 9.4 CAV3 CAV1
8 negative regulation of MAPK cascade GO:0043409 9.37 CAV3 CAV1
9 lipid storage GO:0019915 9.32 CAV1 BSCL2
10 negative regulation of nitric-oxide synthase activity GO:0051001 9.26 CAV3 CAV1
11 negative regulation of potassium ion transmembrane transport GO:1901380 9.16 CAV3 CAV1
12 regulation of cardiac muscle cell action potential involved in regulation of contraction GO:0098909 8.96 CAV3 CAV1
13 caveola assembly GO:0070836 8.62 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 molecular adaptor activity GO:0060090 8.96 CAV3 CAV1
2 nitric-oxide synthase binding GO:0050998 8.62 CAV3 CAV1

Sources for Lipodystrophy, Congenital Generalized, Type 4

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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