Cowden-like Syndrome malady

MalaCards: Cowden-like Syndrome is related to thyroiditis and cowden disease. An important gene associated with Cowden-like Syndrome is KLLN (killin, p53-regulated DNA replication inhibitor), and among its related pathways are Citric acid cycle (TCA cycle) and Citrate cycle (TCA cycle). The compounds UBIQUINONE-1 and 2-Hexyloxy-6-Hydroxymethyl-Tetrahydro-Pyran-3,4,5-Triol have been mentioned in the context of this disorder. Affiliated tissues include thyroid.

OMIM: 612359

cowden-like syndrome 7 33

Diseases related to cowden-like syndrome by text searches and GeneDecks gene sharing:

(show all 35)

id	Related Disease	Score	Top Affiliating Genes
1	thyroiditis	26.8	SDHB, SDHD, PTEN, KLLN
2	cowden disease	12.5	PTEN, SDHB
3	lipomatosis	12.5	SDHB, PTEN
4	merkel cell carcinoma	12.5	SDHD, PTEN
5	paraganglioma and gastric stromal sarcoma	12.4	SDHB, SDHD
6	hereditary paraganglioma-pheochromocytoma syndromes	12.4	SDHB, SDHD
7	carotid body tumor	12.4	SDHD, SDHB
8	mitochondrial complex ii deficiency	12.4	SDHD, SDHB
9	neural crest tumor	12.4	SDHB, SDHD
10	carney triad	12.4	SDHD, SDHB
11	familial medullary thyroid carcinoma	12.4	SDHD, SDHB
12	familial renal cell carcinoma	12.4	SDHB, SDHD
13	multiple endocrine neoplasia type 2a	12.4	SDHD, SDHB
14	chondroma	12.4	SDHB, SDHD
15	glomus tumor	12.3	SDHB, SDHD
16	wermer syndrome	12.3	SDHB, SDHD
17	neurofibromatosis	12.3	SDHB, SDHD
18	adrenal adenoma	12.3	SDHB, SDHD
19	kidney cancer	12.2	SDHB, PTEN
20	benign tumors	12.1	SDHB, PTEN
21	adrenocortical tumor	12.1	SDHD, SDHB
22	mediastinitis	11.9	SDHD, SDHB
23	von hippel-lindau disease	11.9	SDHB, SDHD, PTEN
24	paraganglioma	11.9	PTEN, SDHD, SDHB
25	multiple endocrine neoplasia	11.9	SDHB, SDHD, PTEN
26	hemangioma	11.9	SDHB, SDHD, PTEN
27	gastrointestinal stromal tumor	11.9	SDHB, SDHD, PTEN
28	pheochromocytoma	11.8	PTEN, SDHD, SDHB
29	thyroid cancer	11.8	SDHB, SDHD, PTEN
30	acute leukemia	11.7	PTEN, SDHD, SDHB
31	thyroid carcinoma	11.7	PTEN, SDHD, SDHB
32	adenoma	11.5	SDHB, SDHD, PTEN
33	renal cell carcinoma	11.3	SDHB, SDHD, PTEN, KLLN
34	parkinson's disease	11.2	SDHB, SDHD, PTEN
35	polyposis	6.7

Clinical features from OMIM: 612359

Approved drugs:

Drug clinical trials:

MalaCards organs/tissues related to cowden-like syndrome:

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Articles related to cowden-like syndrome:

id	Title	Authors	Year	Affiliating Genes
1	Incidence and clinical characteristics of thyroid can cer in prospective series of individuals with Cowden and Cowden-like syndrome c haracterized by germline PTEN, SDH, or KLLN alterations. (21956414)	Ngeow J.... Eng C.	2011	PTEN, SDHB, KLLN
2	Germline epigenetic regulation of KILLIN in Cowden an d Cowden-like syndrome. (21177507)	Bennett K.L.... Eng C.	2010	PTEN, KLLN
3	Germline mutations and variants in the succinate dehydrogenase genes in Cowden and Cowden-like syndromes. (18678321)	Ni Y.... Eng C.	2008	PTEN, SDHB, SDHD
4	Deletion 10q23.2-q23.33 in a patient with gastrointestinal juvenile polyposis and other features of a Cowden-like syndrome. (9491322)	Tsuchiya K.D.... Schwartz S.	1998	PTEN

Genes related to cowden-like syndrome according to GeneCards:

id	Symbol	Description	Score	GeneCards Section Context
1	KLLN	killin, p53-regulated DNA replication inhibitor	11.0	Publications
2	SDHD	succinate dehydrogenase complex, subunit D, integral membrane protein	11.0	Publications
3	SDHB	succinate dehydrogenase complex, subunit B, iron sulfur (Ip)	11.0	Publications
4	PTEN	phosphatase and tensin homolog	11.0	Publications

Pathways related to cowden-like syndrome according to GeneDecks:

id	Pathway	Score	Top Affiliating Genes
1	Citric acid cycle (TCA cycle)38	9.1	SDHB, SDHD
2	Citrate cycle (TCA cycle)20	9.1	SDHB, SDHD
3	Parkinsons disease20	9.0	SDHB, SDHD
4	Huntingtons disease20	9.0	SDHB, SDHD
5	Oxidative phosphorylation20	8.9	SDHD, SDHB
6	Alzheimers disease20	8.7	SDHB, SDHD

Compounds related to cowden-like syndrome according to GeneDecks:

id	Compound	Score	Top Affiliating Genes
1	UBIQUINONE-19 9	10.3	SDHB, SDHD
2	2-Hexyloxy-6-Hydroxymethyl-Tetrahydro-Pyran-3,4,5-Triol9 9	10.2	SDHB, SDHD
3	mibg32	9.2	SDHD, SDHB
4	fumarate32 9 9	11.2	SDHB, SDHD
5	Succinic acid9 18 9	11.1	SDHD, SDHB
6	iron-sulfur32	9.1	SDHD, SDHB
7	ubiquinone32	9.0	SDHB, SDHD
8	succinate32	8.9	SDHD, SDHB
9	catecholamine32	8.7	SDHB, SDHD
10	oxygen32 18	9.5	SDHB, SDHD, PTEN

Cellular components related to cowden-like syndrome according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	mitochondrial respiratory chain complex II	GO:005749	9.0	SDHB, SDHD

Biological processes related to cowden-like syndrome according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	respiratory electron transport chain	GO:022904	9.0	SDHB, SDHD
2	tricarboxylic acid cycle	GO:006099	8.7	SDHB, SDHD

Molecular functions related to cowden-like syndrome according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	electron carrier activity	GO:009055	9.0	SDHB, SDHD
2	ubiquinone binding	GO:048039	8.7	SDHB, SDHD