PedAM

Pediatric Disease Annotations & Medicines


	carney triad

Disease ID	454
Disease	carney triad
Definition	An extremely rare syndrome characterized by the presence of gastrointestinal stromal tumors, pulmonary chondroma, and/or extra-adrenal paraganglioma. There is no evidence of familial inheritance.
Synonym	gastric leiomyosarcoma, pulmonary chondroma, and extraadrenal paraganglioma
Orphanet	ORPHANET:139411
OMIM	OMIM:604287
UMLS	C1858592
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:4) C0879615 \| stromal tumor \| 2 C0206667 \| adrenal cortical adenoma \| 1 C0879615 \| stromal tumour \| 1 C0238198 \| gastrointestinal stromal tumour \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:3) SDHA \| 6389 \| CLINVAR SDHB \| 6390 \| CLINVAR SDHC \| 6391 \| CLINVAR
Inferring Gene	(Waiting for update.)
Text Mined Gene	(Waiting for update.)
Locus	(Waiting for update.)

Disease ID	454
Disease	carney triad
Integrated Phenotype	HPO \| Name(Total Integrated Phenotypes:21) HP:0011675 \| Arrhythmia HP:0001903 \| Anemia HP:0002239 \| Gastrointestinal hemorrhage HP:0002716 \| Lymphadenopathy HP:0100721 \| Mediastinal lymphadenopathy HP:0002315 \| Headache HP:0002717 \| Adrenal overactivity HP:0008256 \| Adrenocortical adenoma HP:0000822 \| Hypertension HP:0012378 \| Fatigue HP:0100243 \| Leiomyosarcoma HP:0100723 \| Gastrointestinal stroma tumor HP:0002014 \| Diarrhea HP:0002668 \| Paraganglioma HP:0002039 \| Anorexia HP:0002017 \| Nausea and vomiting HP:0001541 \| Ascites HP:0002666 \| Pheochromocytoma HP:0002027 \| Abdominal pain HP:0002113 \| Pulmonary infiltrates HP:0001649 \| Tachycardia
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:6) HP:0002664 \| Neoplasia \| 2 HP:0100723 \| Gastrointestinal stroma tumor \| 1 HP:0002239 \| Gastrointestinal hemorrhage \| 1 HP:0002584 \| Intestinal hemorrhage \| 1 HP:0002668 \| Paragangliomas \| 1 HP:0006735 \| Kidney cortical adenoma \| 1

Disease ID	454
Disease	carney triad
Manually Symptom	UMLS \| Name(Total Manually Symptoms:4) C2697417 \| pheochromocytoma C0879615 \| stromal tumor C0030421 \| paragangliomas C0030421 \| paraganglioma
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:2) C0879615 \| stromal tumor \| 2 C0030421 \| paragangliomas \| 1

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

All Snps(Total Genotypes:6)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs142441643	NA	6389	SDHA	umls:C1858592	CLINVAR	NA	0.120271442	NA	SDHA	5	223509	C	T
rs587776653	NA	6391	SDHC	umls:C1858592	CLINVAR	NA	0.120814326	NA	SDHC	1	161356841	G	A,T
rs786201095	NA	6390	SDHB	umls:C1858592	CLINVAR	NA	0.121085767	NA	SDHB	1	17028643	A	C
rs786205145	NA	6389	SDHA	umls:C1858592	CLINVAR	NA	0.120271442	NA	SDHA	5	224504	C	T
rs786205146	NA	6391	SDHC	umls:C1858592	CLINVAR	NA	0.120814326	NA	SDHC	1	161314411	T	-
rs786205147	NA	6391	SDHC	umls:C1858592	CLINVAR	NA	0.120814326	NA	SDHC	1	161340638	G	A

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

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

Mapped by lexical matching(Total Items:1)
HP ID	HP Name	MP ID	MP Name	Annotation
HP:0001392	Abnormality of the liver	MP:0003065	abnormal liver copper level;HP:0006753	Neoplasm of the stomach

Mapped by homologous gene(Total Items:1)
HP ID	HP Name	MP ID	MP Name	Annotation
HP:0000822	Hypertension	MP:0011250	abdominal situs ambiguus;HP:0002716	Lymphadenopathy

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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