CGL4
MCID: LPD035
MIFTS: 46

Lipodystrophy, Congenital Generalized, Type 4 (CGL4)

Categories: Endocrine 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 56 52 29 13 6 39 71
Congenital Generalized Lipodystrophy Type 4 12 52 15
Cgl4 56 52 73
Lipodystrophy, Berardinelli-Seip Congenital, Type 4, with Muscular Dystrophy 56 52
Berardinelli-Seip Congenital Lipodystrophy, Type 4, with Muscular Dystrophy 56 52
Berardinelli-Seip Congenital Lipodystrophy Type 4 with Muscular Dystrophy 12 73
Generalized Congenital Lipodystrophy with Myopathy 12 52
Generalised Congenital Lipodystrophy with Myopathy 12
Berardinelli-Seip Congenital Lipodystrophy Type 4 73
Congenital Generalised Lipodystrophy Type 4 12
Generalised Congenital Lipodystrophy Type 4 12
Generalized Congenital Lipodystrophy Type 4 12
Congenital Generalized Lipodystrophy 4 73
Gcl4 52

Characteristics:

OMIM:

56
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 : 73 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 generalized muscle weakness, myalgia and constipation. 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 splenomegaly

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

OMIM : 56 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)

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 30.3 BSCL2 AGPAT2
2 lipodystrophy, congenital generalized, type 1 29.9 BSCL2 AGPAT2
3 congenital generalized lipodystrophy 29.1 CAVIN1 CAV1 BSCL2 AGPAT2
4 berardinelli-seip congenital lipodystrophy 28.9 CAVIN1 CAV1 BSCL2 AGPAT2
5 hypertriglyceridemia, familial 10.2
6 pyloric stenosis 10.2
7 myopathy 10.2
8 catecholaminergic polymorphic ventricular tachycardia 10.2
9 acanthosis nigricans 10.1
10 cardiac arrhythmia 10.1
11 cardiac conduction defect 10.1
12 myopathy, congenital 10.1
13 fatty liver disease, nonalcoholic 1 10.1
14 muscle hypertrophy 10.1
15 autosomal recessive disease 10.1
16 hypertrophic pyloric stenosis 10.1
17 long qt syndrome 10.1
18 muscular dystrophy 10.1
19 scoliosis 10.0
20 rickets 10.0
21 hyperuricemia 10.0
22 cataract 10.0
23 learning disability 10.0
24 dysphagia 10.0
25 adiposis dolorosa 9.9 BSCL2 AGPAT2
26 lipodystrophy, familial partial, type 3 9.9 BSCL2 AGPAT2
27 donohue syndrome 9.9 BSCL2 AGPAT2
28 spastic paraplegia 17, autosomal dominant 9.8 BSCL2 AGPAT2
29 umbilical hernia 9.8 BSCL2 AGPAT2
30 autosomal dominant distal hereditary motor neuronopathy 9.7 BSCL2 AGPAT2
31 autosomal dominant limb-girdle muscular dystrophy 9.7 CAV3 CAV1
32 neuronopathy, distal hereditary motor, type va 9.7 BSCL2 AGPAT2
33 acquired lipodystrophy 9.7 CAV1 BSCL2
34 lipodystrophy, familial partial, type 1 9.7 CAVIN1 BSCL2 AGPAT2
35 acquired generalized lipodystrophy 9.7 CAVIN1 BSCL2 AGPAT2
36 pigmentation disease 9.7 CAVIN1 BSCL2 AGPAT2
37 lipodystrophy, familial partial, type 2 9.6 CAVIN1 BSCL2 AGPAT2
38 timothy syndrome 9.6 CAV3 CAV1
39 familial partial lipodystrophy 9.6 BSCL2 AGPAT2
40 isolated elevated serum creatine phosphokinase levels 9.4 CAV3 CAV1 AGPAT2
41 malignant hyperthermia 9.3 CAV3 CAV1
42 lipodystrophy, congenital generalized, type 3 9.1 CAVIN1 CAV1 BSCL2 AGPAT2
43 complete generalized lipodystrophy 9.1 CAVIN1 CAV1 BSCL2 AGPAT2
44 lipodystrophy, congenital generalized, type 2 9.1 CAVIN1 CAV1 BSCL2 AGPAT2
45 lipodystrophy, familial partial, type 5 9.1 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 splenomegaly 31 HP:0001744
3 hepatomegaly 31 HP:0002240
4 scoliosis 31 HP:0002650
5 flexion contracture 31 HP:0001371
6 failure to thrive 31 HP:0001508
7 dysphagia 31 HP:0002015
8 elevated serum creatine kinase 31 HP:0003236
9 generalized muscle weakness 31 HP:0003324
10 hypertriglyceridemia 31 HP:0002155
11 feeding difficulties 31 HP:0011968
12 hyperlordosis 31 HP:0003307
13 myalgia 31 HP:0003326
14 osteopenia 31 HP:0000938
15 osteoporosis 31 HP:0000939
16 hepatic steatosis 31 HP:0001397
17 elevated hepatic transaminase 31 HP:0002910
18 hyperinsulinemia 31 HP:0000842
19 prolonged qt interval 31 HP:0001657
20 spinal rigidity 31 HP:0003306
21 lipodystrophy 31 HP:0009125
22 muscle stiffness 31 HP:0003552
23 constipation 31 HP:0002019
24 pyloric stenosis 31 HP:0002021
25 skeletal muscle hypertrophy 31 HP:0003712
26 acanthosis nigricans 31 HP:0000956
27 muscular dystrophy 31 HP:0003560
28 recurrent infections 31 HP:0002719
29 atrial fibrillation 31 HP:0005110
30 tachycardia 31 HP:0001649
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 dilatation 31 HP:0002617
39 muscle mounding 31 HP:0003719

Symptoms via clinical synopsis from OMIM:

56
Abdomen Spleen:
splenomegaly

Skeletal Spine:
scoliosis
hyperlordosis
spinal rigidity
atlanto-axial instability

Abdomen Gastrointestinal:
dysphagia
constipation
ileus
poor feeding
esophageal dilatation
more
Muscle Soft Tissue:
myalgia
muscle stiffness
exercise intolerance
muscle weakness, proximal
muscle hypertrophy
more
Endocrine Features:
hyperinsulinemia
insulin resistance
acromegaloid features
decreased growth hormone secretion (1 patient)

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

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

Abdomen Liver:
hepatomegaly
fatty liver

Growth Other:
failure to thrive

Cardiovascular Heart:
arrhythmia
atrial fibrillation
tachycardia
bradycardia
long qt syndrome

Skeletal:
osteopenia
osteoporosis
joint contractures

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

Abdomen External Features:
prominent umbilicus
protruding abdomen

Clinical features from OMIM:

613327

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


generalized muscle weakness, myalgia, constipation, muscular stiffness

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

45
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.55 BSCL2 CAV1 CAV3 CAVIN1 CAVIN4
2 homeostasis/metabolism MP:0005376 9.43 AGPAT2 BSCL2 CAV1 CAV3 CAVIN1 CAVIN4
3 renal/urinary system MP:0005367 8.92 AGPAT2 BSCL2 CAV1 CAVIN1

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 26)
# Title Authors PMID Year
1
Congenital generalized lipodystrophy, type 4 (CGL4) associated with myopathy due to novel PTRF mutations. 61 56 6
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. 6 56 61
20300641 2010
3
Human PTRF mutations cause secondary deficiency of caveolins resulting in muscular dystrophy with generalized lipodystrophy. 56 6
19726876 2009
4
Novel subtype of congenital generalized lipodystrophy associated with muscular weakness and cervical spine instability. 6 56
18698612 2008
5
Heterogeneity for congenital generalized lipodystrophy in seventeen patients from Oman. 6 56
12116229 2002
6
Deletion of Cavin/PTRF causes global loss of caveolae, dyslipidemia, and glucose intolerance. 56
18840361 2008
7
Berardinelli-Seip Congenital Lipodystrophy 6
20301391 2003
8
Percussion myoedema in a Pakistani boy with Berardinelli Seip lipodystrophy syndrome. 56
8313629 1993
9
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
10
Postmortem Findings in a Young Man With Congenital Generalized Lipodystrophy, Type 4 Due to CAVIN1 Mutations. 61
30476128 2019
11
Metreleptin treatment for congenital generalized lipodystrophy type 4 (CGL4): a case report. 61
30745727 2019
12
Determining residual adipose tissue characteristics with MRI in patients with various subtypes of lipodystrophy. 61
29044029 2017
13
Maladaptative Autophagy Impairs Adipose Function in Congenital Generalized Lipodystrophy due to Cavin-1 Deficiency. 61
27144934 2016
14
Natural History of Congenital Generalized Lipodystrophy: A Nationwide Study From Turkey. 61
27144933 2016
15
PTRF/Cavin-1 Deficiency Causes Cardiac Dysfunction Accompanied by Cardiomyocyte Hypertrophy and Cardiac Fibrosis. 61
27612189 2016
16
Novel nonsense mutation in the PTRF gene underlies congenital generalized lipodystrophy in a consanguineous Saudi family. 61
25721873 2015
17
Novel PTRF mutation in a child with mild myopathy and very mild congenital lipodystrophy. 61
24024685 2013
18
A Patient with Congenital Generalized Lipodystrophy Due To a Novel Mutation in BSCL2: Indications for Secondary Mitochondrial Dysfunction. 61
23430896 2012
19
A Japanese child with asymptomatic elevation of serum creatine kinase shows PTRF-CAVIN mutation matching with congenital generalized lipodystrophy type 4. 61
20638880 2010
20
Dimerization of two novel apoptosisinducing proteins and its function in regulating cell apoptosis. 61
18763137 2003
21
Enhanced expression of glucose transporter GLUT3 in tumorigenic HeLa cell hybrids associated with tumor suppressor dysfunction. 61
10336639 1999
22
Tumorigenic conversion resulting from inhibition of apoptosis in a nontumorigenic HeLa-derived hybrid cell line. 61
10213483 1999
23
Reduction of caveolin-1 expression in tumorigenic human cell hybrids. 61
9685730 1998
24
Altered N-glycosylation of glucose transporter-1 associated with radiation-induced tumorigenesis of human cell hybrids. 61
9388489 1997
25
A tumor-associated glycosylation change in the glucose transporter GLUT1 controlled by tumor suppressor function in human cell hybrids. 61
8719880 1995
26
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 71) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CAVIN1 NM_012232.6(CAVIN1):c.696dup (p.Lys233fs)duplication Pathogenic 6601 rs1427062799 17:40557181-40557182 17:42405163-42405164
2 CAVIN1 NM_012232.6(CAVIN1):c.526del (p.Glu176fs)deletion Pathogenic 6602 rs1567776490 17:40557352-40557352 17:42405334-42405334
3 CAVIN1 NM_012232.6(CAVIN1):c.160del (p.Val54fs)deletion Pathogenic 6603 rs1567782465 17:40574956-40574956 17:42422938-42422938
4 CAVIN1 NM_012232.6(CAVIN1):c.362dup (p.Lys122fs)duplication Pathogenic 6604 rs1489315815 17:40574753-40574754 17:42422735-42422736
5 CAVIN1 NM_012232.6(CAVIN1):c.135del (p.Lys45fs)deletion Pathogenic 30327 rs1567782493 17:40574981-40574981 17:42422963-42422963
6 CAVIN1 NM_012232.6(CAVIN1):c.478_481dup (p.Lys161fs)duplication Pathogenic 30328 rs1567776514 17:40557396-40557397 17:42405378-42405379
7 CAVIN1 NM_012232.6(CAVIN1):c.518_521del (p.Lys173fs)deletion Pathogenic 30329 rs1207466199 17:40557357-40557360 17:42405339-42405342
8 CAVIN1 NM_012232.6(CAVIN1):c.471+1G>TSNV Pathogenic 30330 rs866504928 17:40574644-40574644 17:42422626-42422626
9 CAVIN1 NM_012232.6(CAVIN1):c.540G>A (p.Glu180=)SNV Conflicting interpretations of pathogenicity 436447 rs143511306 17:40557338-40557338 17:42405320-42405320
10 CAVIN1 NM_012232.6(CAVIN1):c.168C>A (p.Ser56Arg)SNV Conflicting interpretations of pathogenicity 193359 rs139531639 17:40574948-40574948 17:42422930-42422930
11 CAVIN1 NM_012232.6(CAVIN1):c.356T>A (p.Val119Asp)SNV Conflicting interpretations of pathogenicity 193361 rs146547678 17:40574760-40574760 17:42422742-42422742
12 CAVIN1 NM_012232.6(CAVIN1):c.*10G>ASNV Conflicting interpretations of pathogenicity 195287 rs200409122 17:40556695-40556695 17:42404677-42404677
13 CAVIN1 NM_012232.6(CAVIN1):c.462G>C (p.Met154Ile)SNV Conflicting interpretations of pathogenicity 323279 rs148239625 17:40574654-40574654 17:42422636-42422636
14 CAVIN1 NM_012232.6(CAVIN1):c.*143C>GSNV Uncertain significance 323276 rs148241491 17:40556562-40556562 17:42404544-42404544
15 CAVIN1 NM_012232.6(CAVIN1):c.-50C>TSNV Uncertain significance 323280 rs548579969 17:40575165-40575165 17:42423147-42423147
16 CAVIN1 NM_012232.6(CAVIN1):c.*1232G>ASNV Uncertain significance 323264 rs886052947 17:40555473-40555473 17:42403455-42403455
17 CAVIN1 NM_012232.6(CAVIN1):c.836C>G (p.Thr279Arg)SNV Uncertain significance 323278 rs772598451 17:40557042-40557042 17:42405024-42405024
18 CAVIN1 NM_012232.6(CAVIN1):c.923A>G (p.Tyr308Cys)SNV Uncertain significance 211974 rs146799286 17:40556955-40556955 17:42404937-42404937
19 CAVIN1 NM_012232.6(CAVIN1):c.*1185T>CSNV Uncertain significance 323265 rs886052948 17:40555520-40555520 17:42403502-42403502
20 CAVIN1 NM_012232.6(CAVIN1):c.*195C>GSNV Uncertain significance 323274 rs143895719 17:40556510-40556510 17:42404492-42404492
21 CAVIN1 NM_012232.6(CAVIN1):c.1053C>T (p.Gly351=)SNV Uncertain significance 323277 rs374317281 17:40556825-40556825 17:42404807-42404807
22 CAVIN1 NM_012232.6(CAVIN1):c.-143C>GSNV Uncertain significance 323281 rs886052949 17:40575258-40575258 17:42423240-42423240
23 CAVIN1 NM_012232.6(CAVIN1):c.*1990A>CSNV Uncertain significance 323255 rs886052946 17:40554715-40554715 17:42402697-42402697
24 CAVIN1 NM_012232.6(CAVIN1):c.*1479G>ASNV Uncertain significance 323262 rs372899540 17:40555226-40555226 17:42403208-42403208
25 CAVIN1 NM_012232.6(CAVIN1):c.*522G>ASNV Uncertain significance 323270 rs534002973 17:40556183-40556183 17:42404165-42404165
26 CAVIN1 NM_012232.6(CAVIN1):c.*2115G>TSNV Uncertain significance 889013 17:40554590-40554590 17:42402572-42402572
27 CAVIN1 NM_012232.6(CAVIN1):c.*1955T>CSNV Uncertain significance 889709 17:40554750-40554750 17:42402732-42402732
28 CAVIN1 NM_012232.6(CAVIN1):c.*810C>TSNV Uncertain significance 889076 17:40555895-40555895 17:42403877-42403877
29 CAVIN1 NM_012232.6(CAVIN1):c.*697A>CSNV Uncertain significance 889774 17:40556008-40556008 17:42403990-42403990
30 CAVIN1 NM_012232.6(CAVIN1):c.*158A>TSNV Uncertain significance 891311 17:40556547-40556547 17:42404529-42404529
31 CAVIN1 NM_012232.6(CAVIN1):c.*1895C>GSNV Uncertain significance 889711 17:40554810-40554810 17:42402792-42402792
32 CAVIN1 NM_012232.6(CAVIN1):c.*1549C>TSNV Uncertain significance 891261 17:40555156-40555156 17:42403138-42403138
33 CAVIN1 NM_012232.6(CAVIN1):c.*1313G>TSNV Uncertain significance 892452 17:40555392-40555392 17:42403374-42403374
34 CAVIN1 NM_012232.6(CAVIN1):c.*1214G>ASNV Uncertain significance 892453 17:40555491-40555491 17:42403473-42403473
35 CAVIN1 NM_012232.6(CAVIN1):c.*1201T>GSNV Uncertain significance 892454 17:40555504-40555504 17:42403486-42403486
36 CAVIN1 NM_012232.6(CAVIN1):c.*1110C>TSNV Uncertain significance 892455 17:40555595-40555595 17:42403577-42403577
37 CAVIN1 NM_012232.6(CAVIN1):c.*999C>TSNV Uncertain significance 892456 17:40555706-40555706 17:42403688-42403688
38 CAVIN1 NM_012232.6(CAVIN1):c.*31C>GSNV Uncertain significance 891313 17:40556674-40556674 17:42404656-42404656
39 CAVIN1 NM_012232.6(CAVIN1):c.859C>G (p.Arg287Gly)SNV Uncertain significance 892507 17:40557019-40557019 17:42405001-42405001
40 CAVIN1 NM_012232.6(CAVIN1):c.679C>T (p.Arg227Trp)SNV Uncertain significance 892508 17:40557199-40557199 17:42405181-42405181
41 CAVIN1 NM_012232.6(CAVIN1):c.576C>G (p.Pro192=)SNV Uncertain significance 892509 17:40557302-40557302 17:42405284-42405284
42 CAVIN1 NM_012232.6(CAVIN1):c.514C>G (p.Leu172Val)SNV Uncertain significance 889146 17:40557364-40557364 17:42405346-42405346
43 CAVIN1 NM_012232.6(CAVIN1):c.468C>T (p.Tyr156=)SNV Uncertain significance 889147 17:40574648-40574648 17:42422630-42422630
44 CAVIN1 NM_012232.6(CAVIN1):c.232C>A (p.Arg78=)SNV Uncertain significance 889148 17:40574884-40574884 17:42422866-42422866
45 CAVIN1 NM_012232.6(CAVIN1):c.197A>G (p.Asp66Gly)SNV Uncertain significance 889149 17:40574919-40574919 17:42422901-42422901
46 CAVIN1 NM_012232.6(CAVIN1):c.12C>T (p.Pro4=)SNV Uncertain significance 889826 17:40575104-40575104 17:42423086-42423086
47 CAVIN1 NM_012232.6(CAVIN1):c.-133C>GSNV Likely benign 889827 17:40575248-40575248 17:42423230-42423230
48 CAVIN1 NM_012232.6(CAVIN1):c.*104C>TSNV Likely benign 891312 17:40556601-40556601 17:42404583-42404583
49 CAVIN1 NM_012232.6(CAVIN1):c.*1912C>TSNV Likely benign 889710 17:40554793-40554793 17:42402775-42402775
50 CAVIN1 NM_012232.6(CAVIN1):c.*839G>ASNV Likely benign 889075 17:40555866-40555866 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 10.82 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 regulation of cytosolic calcium ion concentration GO:0051480 9.46 CAV3 CAV1
6 negative regulation of MAP kinase activity GO:0043407 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
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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