Congenital generalized lipodystrophy

No Pathway Network information available for Congenital generalized lipodystrophy

Pathways in the Congenital generalized lipodystrophy SuperPath

#	Name	Source	Genes
1	Congenital generalized lipodystrophy	WikiPathways	AGPAT2 AKT2 BSCL2 CAV1 CAVIN1 DGAT1 DGAT2 FYN GPAT3 GRB2 HIF1A IRS1 ITGB4 LPIN1 LPIN2 LPIN3 PIK3CA (see all 17) (see less)

Ordered by rank within the SuperPath, via the multiplicity of each gene in the constituent pathways

#	Symbol	Description	Category	# Related Pathways
1	GPAT3	Glycerol-3-Phosphate Acyltransferase 3	Protein Coding	1
2	LPIN3	Lipin 3	Protein Coding	1
3	LPIN2	Lipin 2	Protein Coding	1
4	DGAT1	Diacylglycerol O-Acyltransferase 1	Protein Coding	1
5	CAV1	Caveolin 1	Protein Coding	1
6	DGAT2	Diacylglycerol O-Acyltransferase 2	Protein Coding	1
7	PIK3CA	Phosphatidylinositol-4,5-Bisphosphate 3-Kinase Catalytic Subunit Alpha	Protein Coding	1
8	ITGB4	Integrin Subunit Beta 4	Protein Coding	1
9	IRS1	Insulin Receptor Substrate 1	Protein Coding	1
10	HIF1A	Hypoxia Inducible Factor 1 Subunit Alpha	Protein Coding	1
11	CAVIN1	Caveolae Associated Protein 1	Protein Coding	1
12	BSCL2	BSCL2 Lipid Droplet Biogenesis Associated, Seipin	Protein Coding	1
13	FYN	FYN Proto-Oncogene, Src Family Tyrosine Kinase	Protein Coding	1
14	LPIN1	Lipin 1	Protein Coding	1
15	AKT2	AKT Serine/Threonine Kinase 2	Protein Coding	1
16	AGPAT2	1-Acylglycerol-3-Phosphate O-Acyltransferase 2	Protein Coding	1
17	GRB2	Growth Factor Receptor Bound Protein 2	Protein Coding	1

Disorders associated with Congenital generalized lipodystrophy SuperPath

according to GeneCards Suite gene sharing

#	Disorder	Type	Genes	Score
1	Congenital generalized lipodystrophy	Enrichment	AGPAT2, CAVIN1	5.05
2	Type 2 diabetes mellitus	Enrichment	AKT2, IRS1	2.91
3	Macrodactyly	Enrichment	PIK3CA	2.90
4	Hypoinsulinemic hypoglycemia with hemihypertrophy	Enrichment	AKT2	2.90
5	Lipodystrophy, congenital generalized, type 3	Enrichment	CAV1	2.90
6	Megalencephaly, autosomal dominant	Enrichment	PIK3CA	2.90
7	Cowden syndrome 5	Enrichment	PIK3CA	2.90
8	Pulmonary hypertension, primary, 3	Enrichment	CAV1	2.90
9	Cerebral cavernous malformations 4	Enrichment	PIK3CA	2.90
10	Lipodystrophy, congenital generalized, type 1	Enrichment	AGPAT2	2.90
11	Lipodystrophy, familial partial, type 7	Enrichment	CAV1	2.90
12	Hemifacial myohyperplasia	Enrichment	PIK3CA	2.90
13	Capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowth	Enrichment	PIK3CA	2.90
14	Majeed syndrome	Enrichment	LPIN2	2.90
15	Lipodystrophy, congenital generalized, type 4	Enrichment	CAVIN1	2.90
16	Segmental progressive overgrowth syndrome with fibroadipose hyperplasia	Enrichment	PIK3CA	2.90
17	Autosomal dominant charcot-marie-tooth disease type 2 due to dgat2 mutation	Enrichment	DGAT2	2.90
18	Hypospadias	Enrichment	PIK3CA	2.90
19	Rare venous malformation	Enrichment	PIK3CA	2.90
20	Diaphragmatic eventration	Enrichment	PIK3CA	2.90
21	Pik3ca-related overgrowth spectrum	Enrichment	PIK3CA	2.90
22	Rare combined vascular malformation	Enrichment	PIK3CA	2.90
23	Cavernous lymphangioma	Enrichment	PIK3CA	2.90
24	Pik3ca-related overgrowth syndrome	Enrichment	PIK3CA	2.90
25	Hemihyperplasia-multiple lipomatosis syndrome	Enrichment	PIK3CA	2.90
26	Eccrine angiomatous hamartoma	Enrichment	PIK3CA	2.90
27	Macrodactyly of toe	Enrichment	PIK3CA	2.90
28	Akt2-related familial partial lipodystrophy	Enrichment	AKT2	2.90
29	Keratosis, seborrheic	Enrichment	PIK3CA	2.60
30	Encephalopathy, progressive, with or without lipodystrophy	Enrichment	BSCL2	2.60
31	Noonan syndrome 8	Enrichment	PIK3CA	2.60
32	Epidermolysis bullosa, junctional 5a, intermediate	Enrichment	ITGB4	2.60
33	Rosette-forming glioneuronal tumor	Enrichment	PIK3CA	2.60
34	Neuronopathy, distal hereditary motor, autosomal dominant 13	Enrichment	BSCL2	2.60
35	Severe neurodegenerative syndrome with lipodystrophy	Enrichment	BSCL2	2.60
36	Localized junctional epidermolysis bullosa, non-herlitz type	Enrichment	ITGB4	2.60
37	Pompe disease, infantile-onset	Enrichment	PIK3CA	2.43
38	Myoglobinuria, acute recurrent, autosomal recessive	Enrichment	LPIN1	2.43
39	Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi	Enrichment	PIK3CA	2.43
40	Enchondromatosis	Enrichment	HIF1A	2.43
41	Keratoacanthoma	Enrichment	PIK3CA	2.43
42	Breast cancer	Enrichment	BSCL2, PIK3CA	2.41
43	Spastic paraplegia 17, autosomal dominant	Enrichment	BSCL2	2.30
44	Lipodystrophy, congenital generalized, type 2	Enrichment	BSCL2	2.30
45	Megalencephaly-capillary malformation-polymicrogyria syndrome	Enrichment	PIK3CA	2.30
46	Lipodystrophy, familial partial, type 3	Enrichment	BSCL2	2.30
47	Epidermolysis bullosa simplex 5c, with pyloric atresia	Enrichment	ITGB4	2.30
48	Diarrhea 7, protein-losing enteropathy type	Enrichment	DGAT1	2.30
49	Cerebrovascular disease	Enrichment	PIK3CA	2.30
50	Hereditary recurrent myoglobinuria	Enrichment	LPIN1	2.30
51	Familial cerebral cavernous malformations	Enrichment	PIK3CA	2.30
52	Capillary malformations, congenital	Enrichment	PIK3CA	2.20
53	Enchondromatosis, multiple, ollier type	Enrichment	HIF1A	2.20
54	Epidermolysis bullosa simplex 1c, localized	Enrichment	ITGB4	2.20
55	Neuronopathy, distal hereditary motor, autosomal dominant 5	Enrichment	BSCL2	2.20
56	Congenital diarrhea 7 with exudative enteropathy	Enrichment	DGAT1	2.20
57	Aplasia cutis congenita	Enrichment	ITGB4	2.20
58	Hemimegalencephaly	Enrichment	PIK3CA	2.20
59	Diffuse cutaneous systemic sclerosis	Enrichment	CAV1	2.20
60	Klippel-trenaunay-weber syndrome	Enrichment	PIK3CA	2.13
61	Cowden syndrome 1	Enrichment	PIK3CA	2.13
62	Epidermolysis bullosa, junctional 1a, intermediate	Enrichment	ITGB4	2.13
63	Hemihyperplasia, isolated	Enrichment	PIK3CA	2.13
64	Epidermolysis bullosa, junctional 5b, with pyloric atresia	Enrichment	ITGB4	2.13
65	Junctional epidermolysis bullosa non-herlitz type	Enrichment	ITGB4	2.13
66	Diarrhea	Enrichment	DGAT1	2.13
67	Limited scleroderma	Enrichment	CAV1	2.13
68	Breast adenocarcinoma	Enrichment	PIK3CA	2.13
69	Lung squamous cell carcinoma	Enrichment	PIK3CA	2.13
70	Nevus, epidermal	Enrichment	PIK3CA	2.06
71	Capillary malformation-arteriovenous malformation 1	Enrichment	PIK3CA	2.06
72	Multiple enchondromatosis, maffucci type	Enrichment	HIF1A	2.06
73	Gallbladder cancer	Enrichment	PIK3CA	2.06
74	Epidermolysis bullosa simplex	Enrichment	ITGB4	2.06
75	Arteriovenous malformation	Enrichment	PIK3CA	1.95
76	Adult hepatocellular carcinoma	Enrichment	PIK3CA	1.95
77	Junctional epidermolysis bullosa	Enrichment	ITGB4	1.95
78	Cowden syndrome	Enrichment	PIK3CA	1.95
79	Myopathy, x-linked, with excessive autophagy	Enrichment	PIK3CA	1.90
80	Lung non-small cell carcinoma	Enrichment	PIK3CA	1.86
81	Heritable pulmonary arterial hypertension	Enrichment	CAV1	1.86
82	Meningioma	Enrichment	PIK3CA	1.83
83	Lip and oral cavity carcinoma	Enrichment	PIK3CA	1.83
84	Multiple sclerosis	Enrichment	ITGB4	1.76
85	Lynch syndrome	Enrichment	PIK3CA	1.73
86	Neuropathy, hereditary motor and sensory, okinawa type	Enrichment	BSCL2	1.63
87	Endometrial cancer	Enrichment	PIK3CA	1.58
88	Hepatocellular carcinoma	Enrichment	PIK3CA	1.56
89	Skin disease	Enrichment	ITGB4	1.56
90	Autoinflammatory disease	Enrichment	LPIN2	1.53
91	Bladder cancer	Enrichment	PIK3CA	1.45
92	Prostate cancer	Enrichment	PIK3CA	1.45
93	Lung cancer	Enrichment	PIK3CA	1.40
94	Peripheral nervous system disease	Enrichment	BSCL2	1.40
95	Neuropathy	Enrichment	BSCL2	1.40
96	Developmental and epileptic encephalopathy	Enrichment	BSCL2	1.35
97	Charcot-marie-tooth disease	Enrichment	BSCL2	1.30
98	Hereditary spastic paraplegia	Enrichment	BSCL2	1.29
99	Gastric cancer	Enrichment	PIK3CA	1.28
100	Hereditary breast carcinoma	Enrichment	PIK3CA	1.27
101	Hypertelorism	Enrichment	PIK3CA	1.20
102	Colorectal cancer	Enrichment	PIK3CA	0.98
103	Ovarian cancer	Enrichment	PIK3CA	0.92

¹ WikiPathways

² PubChem

³ R&D Systems

⁴ Reactome

⁵ GeneGo (Thomson Reuters)

⁶ QIAGEN

⁷ PharmGKB

⁸ Cell Signaling Technology

⁹ Sino Biological

¹⁰ Tocris

¹¹ MalaCards

Congenital generalized lipodystrophy

Pathway Network for Congenital generalized lipodystrophy

Member Pathways for Congenital generalized lipodystrophy

Pathways in the Congenital generalized lipodystrophy SuperPath

Associated Genes for Congenital generalized lipodystrophy

Associated Disorders for Congenital generalized lipodystrophy

Disorders associated with Congenital generalized lipodystrophy SuperPath

STRING Interaction Network for Congenital generalized lipodystrophy

Sources for Congenital generalized lipodystrophy