Details of Disease

Disease Name

Cowden disease

CD; dysplastic gangliocytoma of cerebellum; MHAM; multiple hamartoma syndrome; Cowden's disease; Cowden syndrome; Cowden disease

Definition

A genodermatosis characterized by the presence of multiple hamartomas in various tissues and an increased risk for malignancies of the breast, thyroid, endometrium, kidney and colorectum. When CS is accompanied by germline PTEN mutations, it belongs to the PTEN hamartoma tumor syndrome (PHTS) group.

Disease Hierarchy

DIS3HIWD: Autosomal dominant disease

DISSCALK: Hereditary skin disorder

DISMYKCE: Cowden disease

Disease Identifiers

MONDO ID

MONDO_0016063

MESH ID

D006223

UMLS CUI

C0018553

OMIM ID

158350

MedGen ID

5420

Orphanet ID

201

SNOMED CT ID

58037000

General Information of Disease (ID: DISMYKCE)

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 49 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
USF3	OTORO3Q7	Supportive	Autosomal dominant	[1]
ATG16L1	OTEOYC5D	Limited	Genetic Variation	[31]
RASAL1	OTAHUNN7	Limited	Genetic Variation	[32]
TESC	OTI8C76M	Limited	Biomarker	[6]
ERCC3	OTVAW3P1	Disputed	Genetic Variation	[33]
GTF2H2	OTK72L9I	Disputed	Genetic Variation	[33]
GTF2H3	OT87W5QJ	Disputed	Genetic Variation	[33]
GTF2H4	OTPD1DIU	Disputed	Genetic Variation	[33]
GTF2H5	OTRL219S	Disputed	Genetic Variation	[33]
AKT1	OT8H2YY7	Supportive	Autosomal dominant	[8]
KLLN	OTV3FPH0	Supportive	Autosomal dominant	[34]
PIK3CA	OTTOMI8J	Supportive	Autosomal dominant	[8]
PTEN	OTOWDUNT	Supportive	Autosomal dominant	[9]
SDHB	OTRE1M1T	Supportive	Autosomal dominant	[9]
SDHC	OTC8G2MX	Supportive	Autosomal dominant	[22]
SDHD	OTYZ8XRH	Supportive	Autosomal dominant	[9]
SEC23B	OT2NFSIQ	Supportive	Autosomal dominant	[35]
PLAG1	OTT9AJQY	moderate	Biomarker	[13]
PROS1	OTXQWNOI	moderate	Biomarker	[13]
ARSD	OTAHW9M8	Strong	Biomarker	[36]
ASPG	OT5E2EKR	Strong	Biomarker	[37]
BFSP2	OT3QREFR	Strong	Biomarker	[38]
CCNH	OTKDU3SR	Strong	Biomarker	[39]
CSH1	OT33HTRR	Strong	Biomarker	[40]
CSH2	OTW8JVAN	Strong	Biomarker	[40]
CYREN	OT5ZL00R	Strong	Biomarker	[41]
DGCR2	OTEGL17Z	Strong	Biomarker	[42]
DNAJC6	OT1P6ZIE	Strong	Biomarker	[43]
DSC2	OTODVH8K	Strong	Biomarker	[44]
DSG2	OTJPB2TO	Strong	Biomarker	[44]
ERCC8	OT0T4WKI	Strong	Biomarker	[40]
EYA1	OTHU807A	Strong	Biomarker	[16]
GPR68	OT1NXSMN	Strong	Altered Expression	[45]
HEPH	OTZ2F15Z	Strong	Biomarker	[46]
HLA-DQA2	OT1DH0N9	Strong	Biomarker	[47]
HLA-DRB4	OTNXIHQU	Strong	Biomarker	[48]
IL26	OT2WYCW4	Strong	Biomarker	[49]
KAT8	OT5LPQTR	Strong	Biomarker	[50]
LYPD1	OT0HSGML	Strong	Genetic Variation	[51]
MPC1	OT6DYFUO	Strong	Genetic Variation	[52]
OSR1	OTB19LEQ	Strong	Biomarker	[53]
SARDH	OTQ49Q27	Strong	Genetic Variation	[22]
SDS	OT5WTJ2M	Strong	Genetic Variation	[22]
SGCE	OT9F17JB	Strong	Genetic Variation	[54]
SLURP1	OT89YD2E	Strong	Biomarker	[55]
SPRED1	OTKX7P8G	Strong	Genetic Variation	[56]
TAGAP	OTHJNNO2	Strong	Altered Expression	[57]
TCERG1L	OTSBSCLF	Strong	Posttranslational Modification	[58]
KIF3A	OTMUBSSK	Definitive	Biomarker	[59]
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⏷ Show the Full List of 49 DOT(s)

This Disease Is Related to 30 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
CEACAM6	TTIGH2W	Limited	Altered Expression	[2]
KLK3	TTS78AZ	Limited	Biomarker	[3]
NOD2	TTYPUHA	Limited	Genetic Variation	[4]
PIK3CA	TTEUNMR	Limited	CausalMutation	[5]
SLC12A3	TTP362L	Limited	Biomarker	[6]
TMPRSS6	TTL9KE7	Limited	Genetic Variation	[7]
AKT1	TTWTSCV	Supportive	Autosomal dominant	[8]
PIK3CA	TTEUNMR	Supportive	Autosomal dominant	[8]
PTEN	TTEUQ4M	Supportive	Autosomal dominant	[9]
SDHD	TTVH9W8	Supportive	Autosomal dominant	[9]
FGFR2	TTGJVQM	moderate	Biomarker	[10]
HSP90B1	TTFPKXQ	moderate	Biomarker	[11]
IL15RA	TTGN89I	moderate	Genetic Variation	[12]
NPEPPS	TT371QC	moderate	Biomarker	[13]
TNFSF15	TTEST6I	moderate	Altered Expression	[14]
AKT1	TTWTSCV	Strong	GermlineCausalMutation	[8]
CYP11A1	TTSYVO6	Strong	Altered Expression	[15]
EYA2	TTUY9C6	Strong	Biomarker	[16]
FFAR2	TT0FYAN	Strong	Biomarker	[17]
IL23R	TT6H4QR	Strong	Genetic Variation	[18]
SDHD	TTVH9W8	Strong	Genetic Variation	[19]
SIRPA	TTBRJS9	Strong	Biomarker	[20]
SLC38A2	TTUSC27	Strong	Altered Expression	[21]
SORD	TTLSRBZ	Strong	Genetic Variation	[22]
SUCNR1	TT4FX9Y	Strong	Altered Expression	[23]
TEP1	TTQGAVX	Strong	Genetic Variation	[24]
TOR1A	TTF85KW	Strong	Genetic Variation	[25]
UBC	TTBP3XA	Strong	Biomarker	[26]
USP8	TT1J07C	Strong	Genetic Variation	[27]
KCNN4	TT7M9I6	Definitive	Genetic Variation	[28]
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⏷ Show the Full List of 30 DTT(s)

This Disease Is Related to 3 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
PSAT1	DEBS17P	moderate	Biomarker	[13]
TPMT	DEFQ8VO	moderate	Biomarker	[29]
MAT1A	DEQ6NC9	Strong	Altered Expression	[30]
------------------------------------------------------------------------------------

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