Alstrom syndrome

No Pathway Network information available for Alstrom syndrome

Pathways in the Alstrom syndrome SuperPath

#	Name	Source	Genes
1	Alstrom syndrome	WikiPathways	ACTN4 ALMS1 BLOC1S4 CEP19 CEP192 CIMAP3 DNM3 E2F4 GPR161 IFT172 IFT25 IFT27 IFT74 IFT81 MYO5B NSFL1C PTCH1 RABL2A RFX1 RFX2 RFX3 RILPL1 SMO SNAPIN STX5 TFDP2 TUBG1 VCP VCPIP1 (see all 29) (see less)

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

#	Symbol	Description	Category	# Related Pathways
1	CEP19	Centrosomal Protein 19	Protein Coding	1
2	ACTN4	Actinin Alpha 4	Protein Coding	1
3	IFT74	Intraflagellar Transport 74	Protein Coding	1
4	ALMS1	ALMS1 Centrosome And Basal Body Associated Protein	Protein Coding	1
5	VCP	Valosin Containing Protein	Protein Coding	1
6	TUBG1	Tubulin Gamma 1	Protein Coding	1
7	TFDP2	Transcription Factor Dp-2	Protein Coding	1
8	SMO	Smoothened, Frizzled Class Receptor	Protein Coding	1
9	RFX3	Regulatory Factor X3	Protein Coding	1
10	PTCH1	Patched 1	Protein Coding	1
11	MYO5B	Myosin VB	Protein Coding	1
12	IFT172	Intraflagellar Transport 172	Protein Coding	1
13	DNM3	Dynamin 3	Protein Coding	1
14	GPR161	G Protein-Coupled Receptor 161	Protein Coding	1
15	E2F4	E2F Transcription Factor 4	Protein Coding	1
16	IFT27	Intraflagellar Transport 27	Protein Coding	1
17	CIMAP3	Ciliary Microtubule Associated Protein 3	Protein Coding	1
18	RABL2A	RAB, Member Of RAS Oncogene Family Like 2A	Protein Coding	1
19	VCPIP1	Valosin Containing Protein Interacting Protein 1	Protein Coding	1
20	STX5	Syntaxin 5	Protein Coding	1
21	RFX2	Regulatory Factor X2	Protein Coding	1
22	RFX1	Regulatory Factor X1	Protein Coding	1
23	NSFL1C	NSFL1 Cofactor	Protein Coding	1
24	BLOC1S4	Biogenesis Of Lysosomal Organelles Complex 1 Subunit 4	Protein Coding	1
25	CEP192	Centrosomal Protein 192	Protein Coding	1
26	IFT25	Intraflagellar Transport 25	Protein Coding	1
27	RILPL1	Rab Interacting Lysosomal Protein Like 1	Protein Coding	1
28	IFT81	Intraflagellar Transport 81	Protein Coding	1
29	SNAPIN	SNAP Associated Protein	Protein Coding	1

Disorders associated with Alstrom syndrome SuperPath

according to GeneCards Suite gene sharing

#	Disorder	Type	Genes	Score
1	Bardet-biedl syndrome	Enrichment	ALMS1, CEP19, IFT172, IFT27, IFT74	7.60
2	Short-rib thoracic dysplasia 1 with or without polydactyly	Enrichment	IFT172, IFT27, IFT74, IFT81	6.18
3	Bardet-biedl syndrome 22	Enrichment	IFT172, IFT74	5.36
4	Jeune thoracic dystrophy	Enrichment	IFT27, IFT74, IFT81	4.71
5	Asphyxiating thoracic dystrophy	Enrichment	IFT27, IFT74, IFT81	4.56
6	Medulloblastoma	Enrichment	GPR161, PTCH1	3.40
7	Focal segmental glomerulosclerosis 1	Enrichment	ACTN4	2.67
8	Curry-jones syndrome	Enrichment	SMO	2.67
9	Schilbach-rott syndrome	Enrichment	PTCH1	2.67
10	Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 1	Enrichment	VCP	2.67
11	Oculopharyngodistal myopathy 4	Enrichment	RILPL1	2.67
12	Morbid obesity and spermatogenic failure	Enrichment	CEP19	2.67
13	Congenital disorder of glycosylation, type iiaa	Enrichment	STX5	2.67
14	Frontotemporal dementia and/or amyotrophic lateral sclerosis 6	Enrichment	VCP	2.67
15	Short-rib thoracic dysplasia 19 with or without polydactyly	Enrichment	IFT81	2.67
16	Joubert syndrome 40	Enrichment	IFT74	2.67
17	Spermatogenic failure 58	Enrichment	IFT74	2.67
18	Multisystem proteinopathy	Enrichment	VCP	2.67
19	Adult-onset distal myopathy due to vcp mutation	Enrichment	VCP	2.67
20	Turner syndrome	Enrichment	PTCH1	2.67
21	Monosomy 9q22.3	Enrichment	PTCH1	2.67
22	Pallister-hall-like syndrome	Enrichment	SMO	2.37
23	Diarrhea 2, with microvillus atrophy, with or without cholestasis	Enrichment	MYO5B	2.37
24	Amyotrophic lateral sclerosis 6 with or without frontotemporal dementia	Enrichment	VCP	2.37
25	Cortical dysplasia, complex, with other brain malformations 4	Enrichment	TUBG1	2.37
26	Cholestasis, progressive familial intrahepatic, 10	Enrichment	MYO5B	2.37
27	Spastic paraplegia-paget disease of bone syndrome	Enrichment	VCP	2.37
28	Alstrom syndrome	Enrichment	ALMS1	2.19
29	Holoprosencephaly 7	Enrichment	PTCH1	2.19
30	Bardet-biedl syndrome 19	Enrichment	IFT27	2.19
31	Inclusion body myopathy with paget disease of bone and frontotemporal dementia	Enrichment	VCP	2.19
32	Microvillus inclusion disease	Enrichment	MYO5B	2.19
33	End stage renal disease	Enrichment	ALMS1	2.19
34	Polydactyly, preaxial ii	Enrichment	PTCH1	2.07
35	Short-rib thoracic dysplasia 10 with or without polydactyly	Enrichment	IFT172	2.07
36	Retinitis pigmentosa 71	Enrichment	IFT172	2.07
37	Bardet-biedl syndrome 20	Enrichment	IFT172	2.07
38	Cone-rod dystrophy 2	Enrichment	ALMS1, IFT81	2.04
39	Retinitis pigmentosa	Enrichment	ALMS1, IFT172, IFT81	1.99
40	Dementia, lewy body	Enrichment	VCP	1.97
41	Short-rib thoracic dysplasia 9 with or without polydactyly	Enrichment	IFT172	1.97
42	Charcot-marie-tooth disease, axonal, type 2e	Enrichment	VCP	1.97
43	Chromosome 15q11.2 deletion syndrome	Enrichment	TUBG1	1.97
44	Basal cell nevus syndrome 1	Enrichment	PTCH1	1.89
45	Cholestasis, progressive familial intrahepatic, 1	Enrichment	MYO5B	1.89
46	Basal cell carcinoma 1	Enrichment	PTCH1	1.89
47	Short rib-polydactyly syndrome	Enrichment	IFT81	1.89
48	Oculopharyngodistal myopathy 1	Enrichment	RILPL1	1.83
49	Congenital hydrocephalus	Enrichment	PTCH1	1.83
50	Overgrowth syndrome	Enrichment	PTCH1	1.83
51	Spermatogenic failure 5	Enrichment	IFT74	1.77
52	Inflammatory bowel disease 1	Enrichment	MYO5B	1.72
53	Progressive non-fluent aphasia	Enrichment	VCP	1.72
54	Behavioral variant of frontotemporal dementia	Enrichment	VCP	1.72
55	Frontotemporal dementia and/or amyotrophic lateral sclerosis 1	Enrichment	VCP	1.67
56	Stickler syndrome	Enrichment	ALMS1	1.67
57	Hereditary retinal dystrophy	Enrichment	ALMS1, IFT172, IFT81	1.63
58	Fundus dystrophy	Enrichment	ALMS1, IFT172, IFT81	1.63
59	Short-rib thoracic dysplasia 6 with or without polydactyly	Enrichment	IFT172	1.60
60	Meningioma	Enrichment	SMO	1.60
61	Alzheimer's disease	Enrichment	VCP	1.56
62	Pituitary stalk interruption syndrome	Enrichment	GPR161	1.53
63	Polydactyly, postaxial, type a1	Enrichment	PTCH1	1.50
64	Septopreoptic holoprosencephaly	Enrichment	PTCH1	1.50
65	Midline interhemispheric variant of holoprosencephaly	Enrichment	PTCH1	1.50
66	Rhabdomyosarcoma	Enrichment	PTCH1	1.47
67	Microform holoprosencephaly	Enrichment	PTCH1	1.47
68	Lobar holoprosencephaly	Enrichment	PTCH1	1.47
69	Alzheimer disease, familial, 1	Enrichment	VCP	1.45
70	Alobar holoprosencephaly	Enrichment	PTCH1	1.45
71	Semilobar holoprosencephaly	Enrichment	PTCH1	1.42
72	Neuropathy, hereditary motor and sensory, okinawa type	Enrichment	VCP	1.40
73	Macs syndrome	Enrichment	PTCH1	1.38
74	Leukodystrophy	Enrichment	ALMS1	1.38
75	Lissencephaly	Enrichment	TUBG1	1.36
76	Microphthalmia	Enrichment	PTCH1	1.34
77	Tooth agenesis	Enrichment	RFX2	1.34
78	Hirschsprung disease 1	Enrichment	SMO	1.22
79	Stargardt disease 1	Enrichment	ALMS1	1.21
80	Isolated joubert syndrome	Enrichment	IFT74	1.21
81	Genetic steroid-resistant nephrotic syndrome	Enrichment	ACTN4	1.15
82	Eye disease	Enrichment	ALMS1	1.14
83	Joubert syndrome 1	Enrichment	IFT172	0.99
84	Hereditary breast ovarian cancer syndrome	Enrichment	PTCH1	0.95
85	Frontotemporal dementia and/or amyotrophic lateral sclerosis 7	Enrichment	VCP	0.93
86	Leber plus disease	Enrichment	ALMS1	0.73
87	Ovarian cancer	Enrichment	PTCH1	0.71
88	Inherited cancer-predisposing syndrome	Enrichment	PTCH1	0.61

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

Pathway Network for Alstrom syndrome

Member Pathways for Alstrom syndrome

Pathways in the Alstrom syndrome SuperPath

Associated Genes for Alstrom syndrome

Associated Disorders for Alstrom syndrome

Disorders associated with Alstrom syndrome SuperPath

STRING Interaction Network for Alstrom syndrome

Sources for Alstrom syndrome