PedAM

Pediatric Disease Annotations & Medicines


	cronkhite-canada syndrome

Disease ID	414
Disease	cronkhite-canada syndrome
Definition	A nonfamilial polyposis syndrome that is characterized by the presence of diffuse gastrointestinal polyposis, DIARRHEA, and PROTEIN-LOSING ENTEROPATHY. It was first reported by Cronkhite and Canada in 1955.
Synonym	canada-cronkhite syndrome ccs - cronkhite-canada syndrome cronkhite-canada polyposis cronkhite-canada syndrome (disorder) gastrointestinal multiple polyposis syndrome polyposis, skin pigmentation, alopecia, and fingernail changes
Orphanet	ORPHANET:2930
OMIM	OMIM:175500
DOID	DOID:6225
UMLS	C0282207
SNOMED-CT	SNOMEDCT_US_2016_09_01:76304001
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:9) C0024623 \| gastric cancer \| 3 C0024623 \| gastric cancers \| 2 C0751498 \| sigmoid colon cancer \| 1 C0001430 \| adenoma \| 1 C0007102 \| colon cancer \| 1 C0033680 \| protein-losing enteropathy \| 1 C0009319 \| colitis \| 1 C0021933 \| intussusception \| 1 C0021831 \| enteropathy \| 1
Curated Gene	(Waiting for update.)
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:9) 479 \| ATP12A \| DISEASES 657 \| BMPR1A \| DISEASES 495 \| ATP4A \| DISEASES 23523 \| CABIN1 \| DISEASES 213 \| ALB \| DISEASES 5265 \| SERPINA1 \| DISEASES 5728 \| PTEN \| DISEASES 4583 \| MUC2 \| DISEASES 4586 \| MUC5AC \| DISEASES
Locus	(Waiting for update.)

Disease ID	414
Disease	cronkhite-canada syndrome
Integrated Phenotype	HPO \| Name(Total Integrated Phenotypes:33) HP:0012126 \| Stomach cancer HP:0004326 \| Cachexia HP:0001000 \| Abnormality of skin pigmentation HP:0000221 \| Furrowed tongue HP:0001231 \| Abnormality of the fingernails HP:0002014 \| Diarrhea HP:0003003 \| Colon cancer HP:0001596 \| Alopecia HP:0004390 \| Hamartomatous polyposis HP:0008391 \| Dystrophic fingernails HP:0001810 \| Dystrophic toenail HP:0001744 \| Splenomegaly HP:0001250 \| Seizures HP:0002240 \| Hepatomegaly HP:0002664 \| Neoplasm HP:0100840 \| Aplasia/Hypoplasia of the eyebrow HP:0002597 \| Abnormality of the vasculature HP:0002672 \| Gastrointestinal carcinoma HP:0012378 \| Fatigue HP:0000256 \| Macrocephaly HP:0002024 \| Malabsorption HP:0001004 \| Lymphedema HP:0000224 \| Decreased taste sensation HP:0000518 \| Cataract HP:0001903 \| Anemia HP:0001800 \| Hypoplastic toenails HP:0002231 \| Sparse body hair HP:0002232 \| Patchy alopecia HP:0200008 \| Intestinal polyposis HP:0001182 \| Tapered finger HP:0002039 \| Anorexia HP:0002027 \| Abdominal pain HP:0007440 \| Generalized hyperpigmentation
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:6) HP:0012126 \| Gastric cancer \| 3 HP:0002242 \| Enteropathy \| 1 HP:0002583 \| Colitis \| 1 HP:0002576 \| Intussusception \| 1 HP:0003003 \| Colon cancer \| 1 HP:0002243 \| Protein-losing enteropathy \| 1

Disease ID	414
Disease	cronkhite-canada syndrome
Manually Symptom	UMLS \| Name(Total Manually Symptoms:5) C0684249 \| lung cancer C0334108 \| polyposis C0033680 \| protein-losing enteropathy C0009402 \| colorectal carcinoma C0003864 \| arthritis
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:1) C0033680 \| protein-losing enteropathy \| 1

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

All Snps(Total Genotypes:0)
(Waiting for update.)

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:1)
HP ID	HP Name	MP ID	MP Name	Annotation
HP:0001369	Arthritis	MP:0002498	abnormal acute inflammation;HP:0002243	Protein-losing enteropathy

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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