Polycystic Kidney Disease 2 malady

Wikipedia: Polycystin-2 is a protein that in humans is encoded by the PKD2 gene.⁴⁴ more...

MalaCards: Polycystic Kidney Disease 2, also known as polycystic kidney disease, type 2, is related to polycystic kidney disease and polycystic kidney disease, autosomal recessive. An important gene associated with Polycystic Kidney Disease 2 is PKD2L1 (polycystic kidney disease 2-like 1), and among its related pathways is Calcium channels. The compound trp-p-2 have been mentioned in the context of this disorder. Affiliated tissues include kidney.

OMIM: 613095

polycystic kidney disease 2 33 polycystic kidney disease, type 2 43

Disease types for polycystic kidney disease family:

polycystic kidney disease 2

Diseases related to polycystic kidney disease 2 by text searches and GeneDecks gene sharing:

(show all 47)

id	Related Disease	Score	Top Affiliating Genes
1	polycystic kidney disease	39.5	PKD1, PDK2, PKD2L1, PKD2
2	polycystic kidney disease, autosomal recessive	33.4	PKD2, PKD1
3	polycystic kidney disease, autosomal dominant	32.2	PKD1, PKD2
4	polycystic kidney disease 2, autosomal dominant	31.4	PKD2, PKD1
5	polycystic liver disease	30.7	PKD1, PKD2
6	nephronophthisis	30.0	PKD2, PKD1
7	cystic kidney	28.3	PKD2, PKD1
8	kidney disease	14.5
9	auditory system disease	12.3	PKD2, PKD1
10	autosomal dominant disease	12.2	PKD1, PKD2
11	aneurysm disease	12.0	PKD1, PKD2
12	hypertension	9.1
13	tuberous sclerosis	9.1
14	primary hyperoxaluria	9.1	PDK2, PKD1, PKD3, HAX1, PRKD2, PKDREJ
15	nephropathy	8.7
16	cystic fibrosis	8.4
17	fibrosis	8.4
18	polycystic kidney disease, adult type i	8.0
19	hepatitis	8.0
20	oral-facial-digital syndrome type i	8.0
21	polycystic kidneys, severe infantile with tuberous sclerosis	8.0
22	polycystic kidney disease 1, autosomal dominant	8.0
23	aldosteronism	7.5
24	diabetes mellitus	7.5
25	liver disease	7.5
26	orofaciodigital syndrome	7.5
27	potter's syndrome	7.5
28	retinitis	7.5
29	hearing loss	6.6
30	hypoxia	6.6
31	joubert syndrome	6.6
32	marfan syndrome	6.6
33	oral-facial-digital syndrome	6.6
34	polycystic kidney and hepatic disease	6.6
35	pancreatitis	6.6
36	potter syndrome type 1	6.6
37	abdominal aortic aneurysm	6.6
38	retinal degeneration	6.6
39	amelogenesis imperfecta	6.6
40	tuberous sclerosis, type 2	6.6
41	aortic aneurysm	6.6
42	thrombosis	6.6
43	bronchiectasis	6.6
44	type 2 diabetes mellitus	6.6
45	cleft lip	6.6
46	cleft lip/palate	6.6
47	erythrocytosis	6.6

Clinical features from OMIM: 613095

Approved drugs:

Drug clinical trials:

MalaCards organs/tissues related to polycystic kidney disease 2:

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Articles related to polycystic kidney disease 2:

id	Title	Authors	Year	Affiliating Genes
1	Activation of polycystic kidney disease-2-like 1 (PKD 2L1)-PKD1L3 complex by acid in mouse taste cells. (20406802)	Kawaguchi H.... Tominaga M.	2010	PKD2L1, PKD1L3
2	Polymorphisms of four microsatellite markers tightly linked with polycystic kidney disease 2 gene in Chinese (11836683)	Ding L.... Peng Y.	2002	PKD2
3	Mutations of the human polycystic kidney disease 2 (PKD2) gene. (11438989)	Deltas C.C.	2001	PKD2, PKD3
4	The human polycystic kidney disease 2-like (PKDL) gene: exon/intron structure and evidence for a novel splicing mechanism. (10602992)	Guo L.... Zhou J.	2000	PKD2L1
5	A spectrum of mutations in the polycystic kidney disease-2 (PKD2) gene from eight Canadian kindreds. (9773786)	Pei Y.... St George-Hyslop P.	1998	PKD1, PKD2
6	A novel frameshift mutation induced by an adenosine insertion in the polycystic kidney disease 2 (PKD2) gene. (9573526)	Pei Y.... St George-Hyslop P.	1998	PKD1, PKD2
7	Identification of PKDL, a novel polycystic kidney disease 2-like gene whose murine homologue is deleted in mice with kidney and retinal defects. (9748274)	Nomura H.... Zhou J.	1998	PKD1, PKD2, PKD2L1
8	Characterization of the exon structure of the polycystic kidney disease 2 gene (PKD2). (9286709)	Hayashi T.... Somlo S.	1997	PKD2
9	A translation frameshift mutation induced by a cytosine insertion in the polycystic kidney disease 2 gene (PDK2). (9175744)	Xenophontos S.... Deltas C.C.	1997	PKD2, PDK2
10	Novel stop and frameshifting mutations in the autosomal dominant polycystic kidney disease 2 (PKD2) gene. (9402976)	Viribay M.... San Millan J.L.	1997	PKD2

Genes related to polycystic kidney disease 2 according to GeneCards:

id	Symbol	Description	Score	GeneCards Section Context
1	PKD2L1	polycystic kidney disease 2-like 1	11.1	Orthologs, Functions, Aliases & Descriptions, Publications (show all 5 sections) Transcripts
2	PKD2L2	polycystic kidney disease 2-like 2	11.1	Transcripts, Orthologs, Proteins, Functions (show all 5 sections) Aliases & Descriptions
3	PKD2	polycystic kidney disease 2 (autosomal dominant)	11.1	Databases, Orthologs, Aliases & Descriptions, Transcripts (show all 5 sections) Publications
4	HAX1	HCLS1 associated protein X-1	11.0	Summaries
5	PKD3	polycystic kidney disease 3 (autosomal dominant)	11.0	Publications
6	PKDREJ	polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin)	11.0	Orthologs
7	PDK2	pyruvate dehydrogenase kinase, isozyme 2	11.0	Publications
8	PKD1L3	polycystic kidney disease 1-like 3	11.0	Publications
9	PKD1	polycystic kidney disease 1 (autosomal dominant)	11.0	Publications
10	PRKD2	protein kinase D2	8.7

Pathways related to polycystic kidney disease 2 according to GeneDecks:

id	Pathway	Score	Top Affiliating Genes
1	Calcium channels10	9.3	PKD1, PKD2

Compounds related to polycystic kidney disease 2 according to GeneDecks:

id	Compound	Score	Top Affiliating Genes
1	trp-p-232	9.3	PKD1, PKD2

Cellular components related to polycystic kidney disease 2 according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	motile primary cilium	GO:031512	9.3	PKD1, PKD2
2	polycystin complex	GO:002133	9.0	PKD1, PKD2

Biological processes related to polycystic kidney disease 2 according to GeneDecks:

(show all 17)

id	Name	GO ID	Score	Top Affiliating Genes
1	sodium ion transmembrane transport	GO:035725	10.0	PKD2, PKD2L1
2	detection of chemical stimulus involved in sensory perception of sour taste	GO:001581	9.9	PKD1L3, PKD2L1
3	cellular response to acidity	GO:071468	9.8	PKD2L1, PKD1L3
4	mesonephric tubule development	GO:072164	9.6	PKD1, PKD2
5	mesonephric duct development	GO:072177	9.6	PKD1, PKD2
6	metanephric ascending thin limb development	GO:072218	9.6	PKD1, PKD2
7	detection of mechanical stimulus	GO:050982	9.6	PKD2, PKD1
8	placenta blood vessel development	GO:060674	9.5	PKD2, PKD1
9	positive regulation of cyclin-dependent protein kinase activity involved in G1/S	GO:031659	9.5	PKD1, PKD2
10	cytoplasmic sequestering of transcription factor	GO:042994	9.5	PKD1, PKD2
11	neural tube development	GO:021915	9.4	PKD1, PKD2
12	spinal cord development	GO:021510	9.4	PKD2, PKD1
13	embryonic placenta development	GO:001892	9.3	PKD2, PKD1
14	cation transport	GO:006812	9.3	PKD2L1, PKD1L3
15	JAK-STAT cascade	GO:007259	9.2	PKD1, PKD2
16	peptidyl-serine phosphorylation	GO:018105	9.1	PKD1, PRKD2
17	neuropeptide signaling pathway	GO:007218	8.8	PKDREJ, PKD1, PKD1L3

Molecular functions related to polycystic kidney disease 2 according to GeneDecks:

(show all 7)

id	Name	GO ID	Score	Top Affiliating Genes
1	cytoskeletal protein binding	GO:008092	9.8	PKD2L1, PKD2
2	ion channel activity	GO:005216	9.7	PKD2L2, PKDREJ
3	sour taste receptor activity	GO:033040	9.7	PKD1L3, PKD2L1
4	cation transmembrane transporter activity	GO:008324	9.6	PKD1L3, PKD2L1
5	ion channel binding	GO:044325	9.2	PKD1, PKD2
6	cation channel activity	GO:005261	8.9	PKD1, PKD1L3, PKD2L1
7	calcium ion binding	GO:005509	8.8	PKD2L2, PKD2L1, PKD2, PKDREJ