Progeria-associated lipodystrophy

No Pathway Network information available for Progeria-associated lipodystrophy

Pathways in the Progeria-associated lipodystrophy SuperPath

#	Name	Source	Genes
1	Progeria-associated lipodystrophy	WikiPathways	BANF1 FBN1 FNTA ICMT KCNJ6 LMNA LMNB1 LMNB2 MUCL3 PARP1 POLD1 PPARG RECQL SMAD2 SMAD3 SMAD4 SPRTN WRN ZMPSTE24 (see all 19) (see less)
2	Lamin A-processing pathway	WikiPathways	ICMT LMNA ZMPSTE24

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

#	Symbol	Description	Category	# Related Pathways
1	LMNA	Lamin A/C	Protein Coding	2
2	ZMPSTE24	Zinc Metallopeptidase STE24	Protein Coding	2
3	ICMT	Isoprenylcysteine Carboxyl Methyltransferase	Protein Coding	2
4	BANF1	Barrier To Autointegration Nuclear Assembly Factor 1	Protein Coding	1
5	LMNB2	Lamin B2	Protein Coding	1
6	SPRTN	SprT-Like N-Terminal Domain	Protein Coding	1
7	WRN	WRN RecQ Like Helicase	Protein Coding	1
8	RECQL	RecQ Like Helicase	Protein Coding	1
9	PPARG	Peroxisome Proliferator Activated Receptor Gamma	Protein Coding	1
10	POLD1	DNA Polymerase Delta 1, Catalytic Subunit	Protein Coding	1
11	SMAD4	SMAD Family Member 4	Protein Coding	1
12	SMAD3	SMAD Family Member 3	Protein Coding	1
13	SMAD2	SMAD Family Member 2	Protein Coding	1
14	LMNB1	Lamin B1	Protein Coding	1
15	KCNJ6	Potassium Inwardly Rectifying Channel Subfamily J Member 6	Protein Coding	1
16	FBN1	Fibrillin 1	Protein Coding	1
17	PARP1	Poly(ADP-Ribose) Polymerase 1	Protein Coding	1
18	MUCL3	Mucin Like 3	Protein Coding	1
19	FNTA	Farnesyltransferase, CAAX Box, Subunit Alpha	Protein Coding	1

Disorders associated with Progeria-associated lipodystrophy SuperPath

according to GeneCards Suite gene sharing

#	Disorder	Type	Genes	Score
1	Restrictive dermopathy 1	Enrichment	LMNA, ZMPSTE24	7.01
2	Restrictive dermopathy	Enrichment	LMNA, ZMPSTE24	7.01
3	Loeys-dietz syndrome	Enrichment	FBN1, SMAD2, SMAD3	6.71
4	Hutchinson-gilford progeria syndrome	Enrichment	LMNA, ZMPSTE24	6.71
5	Familial thoracic aortic aneurysm and aortic dissection	Enrichment	FBN1, SMAD2, SMAD3, SMAD4	6.44
6	Familial partial lipodystrophy	Enrichment	LMNA, PPARG	5.73
7	Aortic aneurysm	Enrichment	FBN1, SMAD3	4.95
8	Familial thoracic aortic aneurysm and dissection	Enrichment	FBN1, SMAD3	4.18
9	Aortic aneurysm, familial thoracic 1	Enrichment	FBN1, SMAD3	3.78
10	Atypical werner syndrome	Enrichment	LMNA	3.66
11	Mandibuloacral dysplasia	Enrichment	LMNA	3.66
12	Atrioventricular block	Enrichment	LMNA	3.66
13	Lmna-related cardiocutaneous progeria syndrome	Enrichment	LMNA	3.66
14	Autosomal semi-dominant severe lipodystrophic laminopathy	Enrichment	LMNA	3.66
15	Autosomal recessive axonal hereditary motor and sensory neuropathy	Enrichment	LMNA	3.66
16	Laminopathy	Enrichment	LMNA	3.66
17	Colorectal cancer	Enrichment	POLD1, PPARG, SMAD4	3.64
18	Mandibuloacral dysplasia with type a lipodystrophy	Enrichment	LMNA	3.35
19	Heart-hand syndrome, slovenian type	Enrichment	LMNA	3.35
20	Charcot-marie-tooth disease, axonal, type 2b1	Enrichment	LMNA	3.35
21	Cardiomyopathy, dilated, with hypergonadotropic hypogonadism	Enrichment	LMNA	3.35
22	Cardiomyopathy, dilated, 1d	Enrichment	LMNA	3.35
23	Restrictive dermopathy 2	Enrichment	LMNA	3.35
24	Emery-dreifuss muscular dystrophy 3, autosomal recessive	Enrichment	LMNA	3.35
25	Mandibuloacral dysplasia with type b lipodystrophy	Enrichment	ZMPSTE24	3.35
26	Lipodystrophy, familial partial, type 1	Enrichment	LMNA	3.35
27	Charcot-marie-tooth disease type 2b1	Enrichment	LMNA	3.35
28	Pancreatic cancer	Enrichment	POLD1, SMAD4	3.26
29	Lipodystrophy, familial partial, type 2	Enrichment	LMNA	3.18
30	Muscular dystrophy, congenital, lmna-related	Enrichment	LMNA	3.18
31	Inherited cancer-predisposing syndrome	Enrichment	POLD1, RECQL, SMAD4	3.11
32	Emery-dreifuss muscular dystrophy 1, x-linked	Enrichment	LMNA	3.05
33	Microtia-anotia	Enrichment	LMNA	3.05
34	Emery-dreifuss muscular dystrophy	Enrichment	LMNA	3.05
35	Sick sinus syndrome	Enrichment	LMNA	3.05
36	Connective tissue disease	Enrichment	FBN1, SMAD3	3.05
37	Autosomal recessive limb-girdle muscular dystrophy type 2b	Enrichment	LMNA	2.96
38	Histiocytoid hemangioma	Enrichment	LMNA	2.96
39	Emery-dreifuss muscular dystrophy 2, autosomal dominant	Enrichment	LMNA	2.88
40	Leukodystrophy, demyelinating, adult-onset, autosomal dominant, typical	Enrichment	LMNB1	2.85
41	Ectopia lentis 1, isolated, autosomal dominant	Enrichment	FBN1	2.85
42	Colorectal cancer 10	Enrichment	POLD1	2.85
43	Ruijs-aalfs syndrome	Enrichment	SPRTN	2.85
44	Weill-marchesani syndrome 2	Enrichment	FBN1	2.85
45	Geleophysic dysplasia 2	Enrichment	FBN1	2.85
46	Protrusio acetabuli	Enrichment	FBN1	2.85
47	Recon progeroid syndrome	Enrichment	RECQL	2.85
48	Immunodeficiency 120	Enrichment	POLD1	2.85
49	Lymphoplasmacytic lymphoma	Enrichment	FBN1	2.85
50	Adult onset demyelinating leukodystrophy	Enrichment	LMNB1	2.85
51	Epilepsy, progressive myoclonic, 9	Enrichment	LMNB2	2.85
52	Lipodystrophy, partial, acquired	Enrichment	LMNB2	2.85
53	Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome	Enrichment	POLD1	2.85
54	Nestor-guillermo progeria syndrome	Enrichment	BANF1	2.85
55	Microcephaly 26, primary, autosomal dominant	Enrichment	LMNB1	2.85
56	Loeys-dietz syndrome 6	Enrichment	SMAD2	2.85
57	Microcephaly 27, primary, autosomal dominant	Enrichment	LMNB2	2.85
58	Congenital heart defects, multiple types, 8, with or without heterotaxy	Enrichment	SMAD2	2.85
59	Pparg-associated congenital generalized lipodystrophy	Enrichment	PPARG	2.85
60	Heritable thoracic aortic disease	Enrichment	SMAD4	2.85
61	Neonatal marfan syndrome	Enrichment	FBN1	2.85
62	Bethlem myopathy 1a	Enrichment	LMNA	2.81
63	Type 2 diabetes mellitus	Enrichment	PPARG, WRN	2.81
64	Congenital muscular dystrophy	Enrichment	LMNA	2.75
65	Myocarditis	Enrichment	LMNA	2.75
66	Arrhythmogenic right ventricular dysplasia, familial, 9	Enrichment	LMNA	2.70
67	Cardiac conduction defect	Enrichment	LMNA	2.58
68	Muscular dystrophy, limb-girdle, autosomal recessive 2	Enrichment	LMNA	2.58
69	Inherited isolated arrhythmogenic ventricular dysplasia, biventricular variant	Enrichment	LMNA	2.58
70	Inherited isolated arrhythmogenic cardiomyopathy, dominant-left variant	Enrichment	LMNA	2.58
71	Acromicric dysplasia	Enrichment	FBN1	2.55
72	Myhre syndrome	Enrichment	SMAD4	2.55
73	Stiff skin syndrome	Enrichment	FBN1	2.55
74	Carotid intimal medial thickness 1	Enrichment	PPARG	2.55
75	Panbronchiolitis, diffuse	Enrichment	MUCL3	2.55
76	Lipomatosis, multiple symmetric, with or without axonal peripheral neuropathy	Enrichment	LMNB2	2.55
77	Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome	Enrichment	SMAD4	2.55
78	Keppen-lubinsky syndrome	Enrichment	KCNJ6	2.55
79	Beaulieu-boycott-innes syndrome	Enrichment	FBN1	2.55
80	Loeys-dietz syndrome 3	Enrichment	SMAD3	2.55
81	Werner syndrome	Enrichment	WRN	2.55
82	Aortic dissection	Enrichment	FBN1	2.55
83	Marfanoid-progeroid-lipodystrophy syndrome	Enrichment	FBN1	2.55
84	Autosomal dominant primary microcephaly	Enrichment	LMNB1	2.55
85	Lens subluxation	Enrichment	FBN1	2.55
86	Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variant	Enrichment	LMNA	2.51
87	Arrhythmogenic right ventricular cardiomyopathy	Enrichment	LMNA	2.45
88	Cardiomyopathy, dilated, 1e	Enrichment	LMNA	2.43
89	Neuromuscular disease	Enrichment	LMNA	2.40
90	Contractural arachnodactyly, congenital	Enrichment	FBN1	2.38
91	Achondroplasia	Enrichment	FBN1	2.38
92	Mccune-albright syndrome	Enrichment	FBN1	2.38
93	Juvenile polyposis syndrome	Enrichment	SMAD4	2.38
94	Weill-marchesani syndrome 1	Enrichment	FBN1	2.38
95	Isolated ectopia lentis	Enrichment	FBN1	2.38
96	Loeys-dietz syndrome 1	Enrichment	SMAD2	2.38
97	Geleophysic dysplasia	Enrichment	FBN1	2.38
98	Polymerase proofreading-related polyposis	Enrichment	POLD1	2.38
99	Neuropathy, hereditary motor and sensory, okinawa type	Enrichment	LMNA	2.38
100	Cardiomyopathy, dilated, 1a	Enrichment	LMNA	2.33
101	Cardiomyopathy, familial hypertrophic, 1	Enrichment	LMNA	2.28
102	Muscular dystrophy	Enrichment	LMNA	2.28
103	Dilated cardiomyopathy	Enrichment	FBN1, LMNA	2.26
104	Lipodystrophy, familial partial, type 3	Enrichment	PPARG	2.25
105	Leptin deficiency or dysfunction	Enrichment	PPARG	2.25
106	Congenital generalized lipodystrophy	Enrichment	PPARG	2.25
107	Weill-marchesani syndrome	Enrichment	FBN1	2.25
108	Mitral valve insufficiency	Enrichment	FBN1	2.25
109	Brugada syndrome	Enrichment	LMNA	2.24
110	Long qt syndrome	Enrichment	LMNA	2.16
111	Polycystic liver disease 1 with or without kidney cysts	Enrichment	FBN1	2.16
112	Arthrogryposis, renal dysfunction, and cholestasis 1	Enrichment	FBN1	2.16
113	Goldberg-shprintzen syndrome	Enrichment	FBN1	2.16
114	Polycystic liver disease 1	Enrichment	FBN1	2.16
115	Generalized juvenile polyposis/juvenile polyposis coli	Enrichment	SMAD4	2.16
116	Peripheral nervous system disease	Enrichment	LMNA	2.15
117	Neuropathy	Enrichment	LMNA	2.15
118	Left ventricular noncompaction	Enrichment	LMNA	2.11
119	Inguinal hernia	Enrichment	FBN1	2.08
120	Charcot-marie-tooth disease	Enrichment	LMNA	2.04
121	Brugada syndrome 1	Enrichment	FBN1	2.01
122	Gallbladder cancer	Enrichment	SMAD4	2.01
123	Hereditary hemorrhagic telangiectasia	Enrichment	SMAD4	2.01
124	Orthostatic intolerance	Enrichment	FBN1	1.95
125	Familial isolated dilated cardiomyopathy	Enrichment	LMNA	1.93
126	Marfan syndrome	Enrichment	FBN1	1.86
127	Stroke, ischemic	Enrichment	FBN1	1.86
128	Melanoma	Enrichment	FBN1	1.86
129	Pectus excavatum	Enrichment	FBN1	1.82
130	Combined immunodeficiency	Enrichment	POLD1	1.82
131	Combined t cell and b cell immunodeficiency	Enrichment	POLD1	1.82
132	Familial colorectal cancer type x	Enrichment	POLD1	1.82
133	Combined t and b cell immunodeficiency	Enrichment	POLD1	1.82
134	Diaphragmatic hernia, congenital	Enrichment	FBN1	1.74
135	Oligospermia	Enrichment	SPRTN	1.74
136	Medulloblastoma	Enrichment	WRN	1.71
137	Cataract	Enrichment	WRN	1.71
138	Myopia	Enrichment	FBN1	1.68
139	Perrault syndrome 1	Enrichment	FBN1	1.65
140	Gliosarcoma	Enrichment	PPARG	1.65
141	Giant cell glioblastoma	Enrichment	PPARG	1.63
142	Ehlers-danlos syndrome	Enrichment	SMAD3	1.58
143	Scoliosis	Enrichment	FBN1	1.48
144	Differentiated thyroid carcinoma	Enrichment	PPARG	1.40
145	Myopathy	Enrichment	FBN1	1.26
146	Gastric cancer	Enrichment	SMAD4	1.23
147	Thrombocytopenia	Enrichment	SMAD4	1.19
148	Body mass index quantitative trait locus 11	Enrichment	PPARG	1.17
149	Hereditary breast ovarian cancer syndrome	Enrichment	RECQL	1.13
150	Ovarian cancer	Enrichment	WRN	0.88

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

Progeria-associated lipodystrophy

Pathway Network for Progeria-associated lipodystrophy

Member Pathways for Progeria-associated lipodystrophy

Pathways in the Progeria-associated lipodystrophy SuperPath

Associated Genes for Progeria-associated lipodystrophy

Associated Disorders for Progeria-associated lipodystrophy

Disorders associated with Progeria-associated lipodystrophy SuperPath

STRING Interaction Network for Progeria-associated lipodystrophy

Sources for Progeria-associated lipodystrophy