Lipodystrophy, Congenital Generalized, Type 4 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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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:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Metabolic diseases
Anatomical: Muscle diseases Liver diseases Neuronal diseases Skin diseases Endocrine diseases Cardiovascular diseases

See all MalaCards categories (disease lists)

ICD10: ³¹

Endocrine, nutritional and metabolic diseases

Metabolic disorders

Other metabolic disorders

Lipodystrophy, not elsewhere classified

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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.

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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:

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Symptoms & Phenotypes for Lipodystrophy, Congenital Generalized, Type 4

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

³⁰ (show all 44)

#	Description	HPO 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

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Drugs & Therapeutics for Lipodystrophy, Congenital Generalized, Type 4

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

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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

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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

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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	Shastry S...Garg A	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	Rajab A...Schuelke M	20300641	2010
3	Human PTRF mutations cause secondary deficiency of caveolins resulting in muscular dystrophy with generalized lipodystrophy. ⁵⁷ ⁵	Hayashi YK...Nishino I	19726876	2009
4	Novel subtype of congenital generalized lipodystrophy associated with muscular weakness and cervical spine instability. ⁵⁷ ⁵	Simha V...Garg A	18698612	2008
5	Heterogeneity for congenital generalized lipodystrophy in seventeen patients from Oman. ⁵⁷ ⁵	Rajab A...Patton M	12116229	2002
6	Deletion of Cavin/PTRF causes global loss of caveolae, dyslipidemia, and glucose intolerance. ⁵⁷	Liu L...Pilch PF	18840361	2008
7	Percussion myoedema in a Pakistani boy with Berardinelli Seip lipodystrophy syndrome. ⁵⁷	Ghanem Q	8313629	1993
8	Child With Congenital Generalized Lipodystrophy Type 4 for Electrophysiology Study and Catheter Ablation: Anesthetic Challenges. ⁶²	Al Aamri I...Maddali MM	35989241	2022
9	Congenital generalized lipodystrophy type 4 due to a novel PTRF/CAVIN1 pathogenic variant in a child: effects of metreleptin substitution. ⁶²	Adiyaman SC...Kamrath C	35405042	2022
10	Successful treatment of severe hypertriglyceridemia with icosapent ethyl in a case of congenital generalized lipodystrophy type 4. ⁶²	Babalola F...Curtis J	35417107	2022
11	Case Report: Precision COVID-19 Immunization Strategy to Overcome Individual Fragility: A Case of Generalized Lipodystrophy Type 4. ⁶²	Zaffina S...Carsetti R	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	Nilay Gunes...Tuysuz B	31778856	2020
13	Unusual clinical features associated with congenital generalized lipodystrophy type 4 in a patient with a novel E211X CAVIN1 gene variant. ⁶²	Sorkina E...Tiulpakov A	32467771	2020
14	Postmortem Findings in a Young Man With Congenital Generalized Lipodystrophy, Type 4 Due to CAVIN1 Mutations. ⁶²	Patni N...Garg A	30476128	2019
15	Metreleptin treatment for congenital generalized lipodystrophy type 4 (CGL4): a case report. ⁶²	Takeyari S...Ozono K	30745727	2019
16	Characteristic findings of skeletal muscle MRI in caveolinopathies. ⁶²	Ishiguro K...Ishigaki K	30174172	2018
17	Determining residual adipose tissue characteristics with MRI in patients with various subtypes of lipodystrophy. ⁶²	Altay C...Akinci B	29044029	2017
18	Clinical spectra of neuromuscular manifestations in patients with lipodystrophy: A multicenter study. ⁶²	Akinci G...Akinci B	28754454	2017
19	Natural History of Congenital Generalized Lipodystrophy: A Nationwide Study From Turkey. ⁶²	Akinci B...Garg A	27144933	2016
20	Maladaptative Autophagy Impairs Adipose Function in Congenital Generalized Lipodystrophy due to Cavin-1 Deficiency. ⁶²	Salle-Teyssieres L...Vigouroux C	27144934	2016
21	Spectrum of clinical manifestations in two young Turkish patients with congenital generalized lipodystrophy type 4. ⁶²	Akinci G...Garg A	27167729	2016
22	PTRF/Cavin-1 Deficiency Causes Cardiac Dysfunction Accompanied by Cardiomyocyte Hypertrophy and Cardiac Fibrosis. ⁶²	Taniguchi T...Ueyama T	27612189	2016
23	Region-specific variation in the properties of skeletal adipocytes reveals regulated and constitutive marrow adipose tissues. ⁶²	Scheller EL...MacDougald OA	26245716	2015
24	Novel nonsense mutation in the PTRF gene underlies congenital generalized lipodystrophy in a consanguineous Saudi family. ⁶²	Jelani M...Al-Aama JY	25721873	2015
25	Novel PTRF mutation in a child with mild myopathy and very mild congenital lipodystrophy. ⁶²	Ardissone A...Mora M	24024685	2013
26	Congenital generalized lipodystrophy type 4 with muscular dystrophy: clinical and pathological manifestations in early childhood. ⁶²	Murakami N...Nagai T	23489663	2013
27	A Patient with Congenital Generalized Lipodystrophy Due To a Novel Mutation in BSCL2: Indications for Secondary Mitochondrial Dysfunction. ⁶²	Jeninga EH...Kalkhoven E	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	Dwianingsih EK...Matsuo M	20638880	2010
29	Dimerization of two novel apoptosisinducing proteins and its function in regulating cell apoptosis. ⁶²	Liu Q...Qi B	18763137	2003
30	Enhanced expression of glucose transporter GLUT3 in tumorigenic HeLa cell hybrids associated with tumor suppressor dysfunction. ⁶²	Suzuki T...Kitagawa T	10336639	1999
31	Tumorigenic conversion resulting from inhibition of apoptosis in a nontumorigenic HeLa-derived hybrid cell line. ⁶²	Oka K...Yutsudo M	10213483	1999
32	Reduction of caveolin-1 expression in tumorigenic human cell hybrids. ⁶²	Suzuki T...Kitagawa T	9685730	1998
33	Altered N-glycosylation of glucose transporter-1 associated with radiation-induced tumorigenesis of human cell hybrids. ⁶²	Noto Y...Kitagawa T	9388489	1997
34	A tumor-associated glycosylation change in the glucose transporter GLUT1 controlled by tumor suppressor function in human cell hybrids. ⁶²	Kitagawa T...Stanbridge EJ	8719880	1995
35	Identification of the HeLa tumor-associated antigen, p75/150, as intestinal alkaline phosphatase and evidence for its transcriptional regulation. ⁶²	Latham KM...Stanbridge EJ	2304898	1990

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Genes for Lipodystrophy, Congenital Generalized, Type 4

Genes related to Lipodystrophy, Congenital Generalized, Type 4 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	CAVIN1	Caveolae Associated Protein 1	Protein Coding	1033.32	Molecular basis known ⁵⁷ Pathogenic ⁵ Genetic Tests ²⁸ Likely pathogenic ⁵ DISEASES inferred ¹⁴	12116229 18698612 19726876 (more) 20300641 20684003
2	CAV3	Caveolin 3	Protein Coding	6.12	DISEASES inferred ¹⁴
3	AGPAT2	1-Acylglycerol-3-Phosphate O-Acyltransferase 2	Protein Coding	5.91	DISEASES inferred ¹⁴
4	CAVIN4	Caveolae Associated Protein 4	Protein Coding	5.89	DISEASES inferred ¹⁴
5	BSCL2	BSCL2 Lipid Droplet Biogenesis Associated, Seipin	Protein Coding	5.76	DISEASES inferred ¹⁴
6	CAVIN3	Caveolae Associated Protein 3	Protein Coding	5.66	DISEASES inferred ¹⁴
7	CAV1	Caveolin 1	Protein Coding	5.63	DISEASES inferred ¹⁴
8	GASK1A	Golgi Associated Kinase 1A	Protein Coding	5.42	DISEASES inferred ¹⁴

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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

Sources

Expression for Lipodystrophy, Congenital Generalized, Type 4

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

Sources

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	PDGFR-alpha signaling pathway ⁶¹	10.28	CAV3 CAV1
2	Congenital generalized lipodystrophy ⁷⁴	10.15	CAVIN1 CAV1 BSCL2 AGPAT2

Sources

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

Sources for Lipodystrophy, Congenital Generalized, Type 4

¹ BitterDB

² CDC

³ Cell Signaling Technology

⁴ ClinicalTrials

⁵ ClinVar

⁶ CNVD

⁷ Cochrane Library

⁸ Cosmic

⁹ dbSNP

¹⁰ DGIdb

¹¹ Disease Ontology

¹² diseasecard

¹³ DiseaseEnhancer

¹⁴ DISEASES

¹⁵ DrugBank

¹⁶ EFO

¹⁷ ExPASy

¹⁸ FMA

¹⁹ GARD

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ GenomeRNAi

²⁶ GEO DataSets

²⁷ GO

²⁸ GTR

²⁹ HMDB

³⁰ HPO

³¹ ICD10

³² ICD10 via Orphanet

³³ ICD11

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ LifeMap

³⁷ LncRNADisease

³⁸ LOVD

³⁹ MalaCards

⁴⁰ MedGen

⁴¹ MedlinePlus

⁴² MedlinePlus Genetics

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NINDS

⁵³ Novoseek

⁵⁴ Novus Biologicals

⁵⁵ ODiseA

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 08-Dec-2022)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubChem

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ WikiPathways

⁷⁵ Wikipedia

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	Data Licensing For inquiries, contact: [email protected]
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Expand all tables

Lipodystrophy, Congenital Generalized, Type 4 (CGL4)

Aliases & Classifications for Lipodystrophy, Congenital Generalized, Type 4

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

Characteristics:

Inheritance:

OMIM®:

Classifications:

External Ids:

Summaries for Lipodystrophy, Congenital Generalized, Type 4

Related Diseases for Lipodystrophy, Congenital Generalized, Type 4

Diseases in the Acquired Generalized Lipodystrophy family:

Diseases related to Lipodystrophy, Congenital Generalized, Type 4 via text searches within MalaCards or GeneCards Suite gene sharing:

Graphical network of the top 20 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:

Symptoms via clinical synopsis from OMIM®:

Clinical features from OMIM®:

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

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

Drugs & Therapeutics for Lipodystrophy, Congenital Generalized, Type 4

Genetic Tests for Lipodystrophy, Congenital Generalized, Type 4

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

Anatomical Context for Lipodystrophy, Congenital Generalized, Type 4

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

Publications for Lipodystrophy, Congenital Generalized, Type 4

Articles related to Lipodystrophy, Congenital Generalized, Type 4:

Genes for Lipodystrophy, Congenital Generalized, Type 4

Genes related to Lipodystrophy, Congenital Generalized, Type 4 (1 elite genes):

Variations for Lipodystrophy, Congenital Generalized, Type 4

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

Expression 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:

GO Terms for Lipodystrophy, Congenital Generalized, Type 4

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

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

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

Sources for Lipodystrophy, Congenital Generalized, Type 4