PedAM

Pediatric Disease Annotations & Medicines


	cowden syndrome 1

Disease ID	883
Disease	cowden syndrome 1
Definition	A hereditary disease characterized by multiple ectodermal, mesodermal, and endodermal nevoid and neoplastic anomalies. Facial trichilemmomas and papillomatous papules of the oral mucosa are the most characteristic lesions. Individuals with this syndrome have a high risk of BREAST CANCER; THYROID CANCER; and ENDOMETRIAL CANCER. This syndrome is associated with mutations in the gene for PTEN PHOSPHATASE.
Synonym	cowden dis cowden disease cowden syndrome cowden syndrome (disorder) cowden's disease cowden's syndrome cowdens dis cowdens disease cowdens syndrome cowdens syndromes cws1 hamartoma syndrome, multiple hamartoma syndrome, multiple [disease/finding] hamartoma syndromes, multiple mham multiple hamartoma syndrome multiple hamartoma syndromes pten hamartoma syndrome
Orphanet	ORPHANET:201
OMIM	OMIM:158350
DOID	DOID:6457
UMLS	C0018553
MeSH	D006223
SNOMED-CT	SNOMEDCT_US_2016_09_01:58037000
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:10) PIK3CA \| 5290 \| ORPHANET FGFR2 \| 2263 \| CTD_human AKT1 \| 207 \| ORPHANET PTEN \| 5728 \| CTD_human;UNIPROT;ORPHANET;GHR SEC23B \| 10483 \| ORPHANET KLLN \| 100144748 \| ORPHANET;GHR SDHD \| 6392 \| ORPHANET;GHR SDHB \| 6390 \| ORPHANET;GHR SDHC \| 6391 \| ORPHANET BMPR1A \| 657 \| CTD_human
Inferring Gene	Entrez_id \| Symbol \| Resource(Total Genes:3) 5728 \| PTEN \| infer 6390 \| SDHB \| infer 6392 \| SDHD \| infer
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:69) 7145 \| TNS1 \| DISEASES 8646 \| CHRD \| DISEASES 7249 \| TSC2 \| DISEASES 4849 \| CNOT3 \| DISEASES 7392 \| USF2 \| DISEASES 858 \| CAV2 \| DISEASES 2662 \| GDF10 \| DISEASES 657 \| BMPR1A \| DISEASES 4436 \| MSH2 \| DISEASES 23175 \| LPIN1 \| DISEASES 6009 \| RHEB \| DISEASES 10483 \| SEC23B \| DISEASES 5290 \| PIK3CA \| DISEASES 5395 \| PMS2 \| DISEASES 1616 \| DAXX \| DISEASES 7157 \| TP53 \| DISEASES 207 \| AKT1 \| DISEASES 5295 \| PIK3R1 \| DISEASES 3026 \| HABP2 \| DISEASES 114790 \| STK11IP \| DISEASES 161742 \| SPRED1 \| DISEASES 56475 \| RPRM \| DISEASES 6794 \| STK11 \| DISEASES 7329 \| UBE2I \| DISEASES 796 \| CALCA \| DISEASES 5727 \| PTCH1 \| DISEASES 92335 \| STRADA \| DISEASES 9547 \| CXCL14 \| DISEASES 4221 \| MEN1 \| DISEASES 1641 \| DCX \| DISEASES 4089 \| SMAD4 \| DISEASES 7332 \| UBE2L3 \| DISEASES 56704 \| JPH1 \| DISEASES 4734 \| NEDD4 \| DISEASES 6925 \| TCF4 \| DISEASES 57522 \| SRGAP1 \| DISEASES 5979 \| RET \| DISEASES 4763 \| NF1 \| DISEASES 157680 \| VPS13B \| DISEASES 5294 \| PIK3CG \| DISEASES 7516 \| XRCC2 \| DISEASES 2475 \| MTOR \| DISEASES 4535 \| MT-ND1 \| DISEASES 2271 \| FH \| DISEASES 79577 \| CDC73 \| DISEASES 6391 \| SDHC \| DISEASES 117145 \| THEM4 \| DISEASES 2316 \| FLNA \| DISEASES 1586 \| CYP17A1 \| DISEASES 5728 \| PTEN \| DISEASES 9562 \| MINPP1 \| DISEASES 4595 \| MUTYH \| DISEASES 3399 \| ID3 \| DISEASES 6390 \| SDHB \| DISEASES 6392 \| SDHD \| DISEASES 675 \| BRCA2 \| DISEASES 143 \| PARP4 \| DISEASES 11200 \| CHEK2 \| DISEASES 9829 \| DNAJC6 \| DISEASES 5048 \| PAFAH1B1 \| DISEASES 116372 \| LYPD1 \| DISEASES 100144748 \| KLLN \| DISEASES 5649 \| RELN \| DISEASES 387836 \| CLEC2A \| DISEASES 5424 \| POLD1 \| DISEASES 9060 \| PAPSS2 \| DISEASES 5378 \| PMS1 \| DISEASES 672 \| BRCA1 \| DISEASES 8437 \| RASAL1 \| DISEASES
Locus	(Waiting for update.)

Disease ID	883
Disease	cowden syndrome 1
Integrated Phenotype	HPO \| Name(Total Integrated Phenotypes:35) HP:0000821 \| Underactive thyroid HP:0000972 \| Thick palms and soles HP:0001256 \| Mild mental retardation HP:0002808 \| Gibbus deformity HP:0002253 \| Colonic diverticulosis HP:0004481 \| Progressively abnormally enlarging cranium HP:0000836 \| Overactive thyroid HP:0000160 \| Small mouth HP:0100646 \| Thyroiditis HP:0000221 \| Scrotal tongue HP:0001031 \| Subcutaneous lipoma HP:0000545 \| Near sightedness HP:0000034 \| Testicular hydrocele HP:0001250 \| Seizures HP:0002858 \| Mengiomia HP:0000365 \| Hearing impairment HP:0000854 \| Thyroid adenoma HP:0000138 \| Ovarian cyst HP:0003002 \| Breast carcinoma HP:0010609 \| Skin tags HP:0001102 \| Angioid streaks HP:0002080 \| Intention tremor HP:0000347 \| Hypoplasia of mandible HP:0000771 \| Gynaecomastia HP:0000518 \| Cataract HP:0000327 \| Maxillary micrognathia HP:0002650 \| Scoliosis HP:0000853 \| Goitre HP:0002597 \| Abnormality of blood vessels HP:0012871 \| Varicocele HP:0004390 \| Hamartomatous polyps HP:0000767 \| Funnel chest HP:0006740 \| Transitional cell bladder carcinoma HP:0000218 \| Increased palatal height HP:0010619 \| Fibroadenoma of the breast
Text Mined Phenotype	(Waiting for update.)

Disease ID	883
Disease	cowden syndrome 1
Manually Symptom	(Waiting for update.)
Text Mined Symptom	(Waiting for update.)

Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)

All Snps(Total Genotypes:1)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs121909231	25756585	5728	PTEN	umls:C0018553	BeFree	A PTEN mutation, c.1003C>T p.(Arg335Ter), was subsequently identified as the cause of Cowden syndrome in another family member (a nephew) with dysplastic gangliocytoma of the cerebellum (Lhermitte-Duclos disease), and genetic testing in the proband's daughter indicated that he was an obligate carrier of the mutation.	0.521446	2015	PTEN	10	87961095	C	T

GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)

GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)

Mapped by lexical matching(Total Items:0)
(Waiting for update.)

Mapped by homologous gene(Total Items:0)
(Waiting for update.)

Chemical(Total Drugs:0)
(Waiting for update.)

FDA approved drug and dosage information(Total Drugs:0)
(Waiting for update.)

FDA labeling changes(Total Drugs:0)
(Waiting for update.)

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