Familial partial lipodystrophy

No Pathway Network information available for Familial partial lipodystrophy

Pathways in the Familial partial lipodystrophy SuperPath

#	Name	Source	Genes
1	Familial partial lipodystrophy	WikiPathways	BANF1 CEBPA CIDEA CIDEC FABP4 FNTA GATA2 GATA3 ICMT KLF2 KLF5 KLF9 LIPE LMNA LMNB1 LMNB2 LPL MGLL PLIN1 PNPLA2 PPARA PPARG PRRX1 SREBF1 STAT5B ZMPSTE24 (see all 26) (see less)

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

#	Symbol	Description	Category	# Related Pathways
1	BANF1	Barrier To Autointegration Nuclear Assembly Factor 1	Protein Coding	1
2	LMNB2	Lamin B2	Protein Coding	1
3	KLF5	KLF Transcription Factor 5	Protein Coding	1
4	KLF9	KLF Transcription Factor 9	Protein Coding	1
5	STAT5B	Signal Transducer And Activator Of Transcription 5B	Protein Coding	1
6	SREBF1	Sterol Regulatory Element Binding Transcription Factor 1	Protein Coding	1
7	CIDEC	Cell Death Inducing DFFA Like Effector C	Protein Coding	1
8	PNPLA2	Patatin Like Domain 2, Triacylglycerol Lipase	Protein Coding	1
9	PPARG	Peroxisome Proliferator Activated Receptor Gamma	Protein Coding	1
10	PPARA	Peroxisome Proliferator Activated Receptor Alpha	Protein Coding	1
11	PRRX1	Paired Related Homeobox 1	Protein Coding	1
12	PLIN1	Perilipin 1	Protein Coding	1
13	LPL	Lipoprotein Lipase	Protein Coding	1
14	LMNB1	Lamin B1	Protein Coding	1
15	LMNA	Lamin A/C	Protein Coding	1
16	LIPE	Lipase E, Hormone Sensitive Type	Protein Coding	1
17	GATA3	GATA Binding Protein 3	Protein Coding	1
18	GATA2	GATA Binding Protein 2~Name Same As:- HGNC:18350	Protein Coding	1
19	FABP4	Fatty Acid Binding Protein 4	Protein Coding	1
20	CIDEA	Cell Death Inducing DFFA Like Effector A	Protein Coding	1
21	MGLL	Monoglyceride Lipase	Protein Coding	1
22	CEBPA	CCAAT Enhancer Binding Protein Alpha	Protein Coding	1
23	KLF2	KLF Transcription Factor 2	Protein Coding	1
24	ZMPSTE24	Zinc Metallopeptidase STE24	Protein Coding	1
25	ICMT	Isoprenylcysteine Carboxyl Methyltransferase	Protein Coding	1
26	FNTA	Farnesyltransferase, CAAX Box, Subunit Alpha	Protein Coding	1

Disorders associated with Familial partial lipodystrophy SuperPath

according to GeneCards Suite gene sharing

#	Disorder	Type	Genes	Score
1	Familial partial lipodystrophy	Enrichment	LMNA, PPARG	5.45
2	Restrictive dermopathy 1	Enrichment	LMNA, ZMPSTE24	4.98
3	Restrictive dermopathy	Enrichment	LMNA, ZMPSTE24	4.98
4	Hutchinson-gilford progeria syndrome	Enrichment	LMNA, ZMPSTE24	4.67
5	Cardiomyopathy, dilated, 1a	Enrichment	LMNA, LPL	3.14
6	Leukodystrophy, demyelinating, adult-onset, autosomal dominant, typical	Enrichment	LMNB1	2.72
7	Mucoepithelial dysplasia, hereditary	Enrichment	SREBF1	2.72
8	Lipodystrophy, familial partial, type 5	Enrichment	CIDEC	2.72
9	Growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant	Enrichment	STAT5B	2.72
10	Lymphedema, primary, with myelodysplasia	Enrichment	GATA2	2.72
11	Ifap syndrome 2	Enrichment	SREBF1	2.72
12	Adult onset demyelinating leukodystrophy	Enrichment	LMNB1	2.72
13	Epilepsy, progressive myoclonic, 9	Enrichment	LMNB2	2.72
14	Lipodystrophy, partial, acquired	Enrichment	LMNB2	2.72
15	Immunodeficiency 21	Enrichment	GATA2	2.72
16	Nestor-guillermo progeria syndrome	Enrichment	BANF1	2.72
17	Microcephaly 26, primary, autosomal dominant	Enrichment	LMNB1	2.72
18	Atypical werner syndrome	Enrichment	LMNA	2.72
19	Deafness-lymphedema-leukemia syndrome	Enrichment	GATA2	2.72
20	Microcephaly 27, primary, autosomal dominant	Enrichment	LMNB2	2.72
21	Pparg-associated congenital generalized lipodystrophy	Enrichment	PPARG	2.72
22	Mandibuloacral dysplasia	Enrichment	LMNA	2.72
23	Atrioventricular block	Enrichment	LMNA	2.72
24	Acute myeloid leukemia with mutated cebpa	Enrichment	CEBPA	2.72
25	Primary triglyceride deposit cardiomyovasculopathy	Enrichment	PNPLA2	2.72
26	Lmna-related cardiocutaneous progeria syndrome	Enrichment	LMNA	2.72
27	Autosomal semi-dominant severe lipodystrophic laminopathy	Enrichment	LMNA	2.72
28	Autosomal recessive axonal hereditary motor and sensory neuropathy	Enrichment	LMNA	2.72
29	Laminopathy	Enrichment	LMNA	2.72
30	Leukemia, acute myeloid	Enrichment	CEBPA, GATA2	2.58
31	Hypoparathyroidism, sensorineural deafness, and renal dysplasia syndrome	Enrichment	GATA3	2.42
32	Hyperlipoproteinemia, type i	Enrichment	LPL	2.42
33	Mandibuloacral dysplasia with type a lipodystrophy	Enrichment	LMNA	2.42
34	Agnathia-otocephaly complex	Enrichment	PRRX1	2.42
35	Growth hormone insensitivity syndrome with immune dysregulation 1, autosomal recessive	Enrichment	STAT5B	2.42
36	Carotid intimal medial thickness 1	Enrichment	PPARG	2.42
37	Neutral lipid storage disease with myopathy	Enrichment	PNPLA2	2.42
38	Lipomatosis, multiple symmetric, with or without axonal peripheral neuropathy	Enrichment	LMNB2	2.42
39	Heart-hand syndrome, slovenian type	Enrichment	LMNA	2.42
40	Charcot-marie-tooth disease, axonal, type 2b1	Enrichment	LMNA	2.42
41	Cardiomyopathy, dilated, with hypergonadotropic hypogonadism	Enrichment	LMNA	2.42
42	Lipase deficiency, combined	Enrichment	LPL	2.42
43	Cardiomyopathy, dilated, 1ff	Enrichment	KLF5	2.42
44	Cardiomyopathy, dilated, 1d	Enrichment	LMNA	2.42
45	Restrictive dermopathy 2	Enrichment	LMNA	2.42
46	Emery-dreifuss muscular dystrophy 3, autosomal recessive	Enrichment	LMNA	2.42
47	Mandibuloacral dysplasia with type b lipodystrophy	Enrichment	ZMPSTE24	2.42
48	Lipodystrophy, familial partial, type 1	Enrichment	LMNA	2.42
49	Familial lipoprotein lipase deficiency	Enrichment	LPL	2.42
50	Autosomal dominant primary microcephaly	Enrichment	LMNB1	2.42
51	B-lymphoblastic leukemia/lymphoma with hyperdiploidy	Enrichment	GATA3	2.42
52	Hypoparathyroidism-deafness-renal disease syndrome	Enrichment	GATA3	2.42
53	Autosomal dominant nonsyndromic deafness	Enrichment	GATA3	2.42
54	Charcot-marie-tooth disease type 2b1	Enrichment	LMNA	2.42
55	Laron syndrome with immunodeficiency	Enrichment	STAT5B	2.42
56	Ifap syndrome 1, with or without bresheck syndrome	Enrichment	SREBF1	2.24
57	Lipodystrophy, familial partial, type 2	Enrichment	LMNA	2.24
58	Lipodystrophy, familial partial, type 6	Enrichment	LIPE	2.24
59	Lipodystrophy, familial partial, type 4	Enrichment	PLIN1	2.24
60	Muscular dystrophy, congenital, lmna-related	Enrichment	LMNA	2.24
61	End stage renal disease	Enrichment	GATA3	2.24
62	Emery-dreifuss muscular dystrophy 1, x-linked	Enrichment	LMNA	2.12
63	Microtia-anotia	Enrichment	LMNA	2.12
64	Lipodystrophy, familial partial, type 3	Enrichment	PPARG	2.12
65	Leptin deficiency or dysfunction	Enrichment	PPARG	2.12
66	Congenital generalized lipodystrophy	Enrichment	PPARG	2.12
67	Emery-dreifuss muscular dystrophy	Enrichment	LMNA	2.12
68	Coronary artery anomaly	Enrichment	LPL	2.12
69	Sick sinus syndrome	Enrichment	LMNA	2.12
70	Hyperlipidemia, familial combined, 3	Enrichment	LPL	2.02
71	Autosomal recessive limb-girdle muscular dystrophy type 2b	Enrichment	LMNA	2.02
72	Histiocytoid hemangioma	Enrichment	LMNA	2.02
73	Inherited acute myeloid leukemia	Enrichment	CEBPA	2.02
74	Acute myeloid leukemia with t(8;21)(q22;q22) translocation	Enrichment	CEBPA	2.02
75	Emery-dreifuss muscular dystrophy 2, autosomal dominant	Enrichment	LMNA	1.94
76	Bethlem myopathy 1a	Enrichment	LMNA	1.87
77	Congenital muscular dystrophy	Enrichment	LMNA	1.82
78	Myocarditis	Enrichment	LMNA	1.82
79	Arrhythmogenic right ventricular dysplasia, familial, 9	Enrichment	LMNA	1.77
80	Myelodysplastic syndrome	Enrichment	GATA2	1.68
81	Cardiac conduction defect	Enrichment	LMNA	1.64
82	Muscular dystrophy, limb-girdle, autosomal recessive 2	Enrichment	LMNA	1.64
83	Inherited isolated arrhythmogenic ventricular dysplasia, biventricular variant	Enrichment	LMNA	1.64
84	Inherited isolated arrhythmogenic cardiomyopathy, dominant-left variant	Enrichment	LMNA	1.64
85	Acute promyelocytic leukemia	Enrichment	STAT5B	1.61
86	Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variant	Enrichment	LMNA	1.58
87	Arrhythmogenic right ventricular cardiomyopathy	Enrichment	LMNA	1.52
88	Gliosarcoma	Enrichment	PPARG	1.52
89	Cardiomyopathy, dilated, 1e	Enrichment	LMNA	1.49
90	Giant cell glioblastoma	Enrichment	PPARG	1.49
91	Neuromuscular disease	Enrichment	LMNA	1.47
92	Neuropathy, hereditary motor and sensory, okinawa type	Enrichment	LMNA	1.45
93	Cardiomyopathy, familial hypertrophic, 1	Enrichment	LMNA	1.35
94	Muscular dystrophy	Enrichment	LMNA	1.35
95	Brugada syndrome	Enrichment	LMNA	1.31
96	Hirschsprung disease 1	Enrichment	SREBF1	1.27
97	Differentiated thyroid carcinoma	Enrichment	PPARG	1.27
98	Long qt syndrome	Enrichment	LMNA	1.24
99	Peripheral nervous system disease	Enrichment	LMNA	1.22
100	Neuropathy	Enrichment	LMNA	1.22
101	Cakut	Enrichment	GATA3	1.20
102	Left ventricular noncompaction	Enrichment	LMNA	1.19
103	Charcot-marie-tooth disease	Enrichment	LMNA	1.12
104	Type 2 diabetes mellitus	Enrichment	PPARG	1.11
105	Body mass index quantitative trait locus 11	Enrichment	PPARG	1.04
106	Familial isolated dilated cardiomyopathy	Enrichment	LMNA	1.01
107	Dilated cardiomyopathy	Enrichment	LMNA	0.85
108	Colorectal cancer	Enrichment	PPARG	0.81
109	Inherited cancer-predisposing syndrome	Enrichment	CEBPA	0.65

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

Familial partial lipodystrophy

Pathway Network for Familial partial lipodystrophy

Member Pathways for Familial partial lipodystrophy

Pathways in the Familial partial lipodystrophy SuperPath

Associated Genes for Familial partial lipodystrophy

Associated Disorders for Familial partial lipodystrophy

Disorders associated with Familial partial lipodystrophy SuperPath

STRING Interaction Network for Familial partial lipodystrophy

Sources for Familial partial lipodystrophy