eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| cronkhite-canada syndrome | ||||
| Disease ID | 719 |
|---|---|
| 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 | |
| OMIM | |
| DOID | |
| UMLS | C0282207 |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:9) C0024623 | gastric cancer | 3 C0024623 | gastric cancers | 2 C0007102 | colon cancer | 1 C0001430 | adenoma | 1 C0009319 | colitis | 1 C0751498 | sigmoid colon cancer | 1 C0021933 | intussusception | 1 C0033680 | protein-losing enteropathy | 1 C0021831 | enteropathy | 1 |
| Curated Gene | (Waiting for update.) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:4) |
| Locus | (Waiting for update.) |
| Disease ID | 719 |
|---|---|
| Disease | cronkhite-canada syndrome |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:33) HP:0004390 | Hamartomatous polyposis HP:0001810 | Dystrophic toenail HP:0000518 | Cataract HP:0012378 | Fatigue HP:0200008 | Intestinal polyposis HP:0002027 | Abdominal pain HP:0001000 | Abnormality of skin pigmentation HP:0002232 | Patchy alopecia HP:0001004 | Lymphedema HP:0002672 | Gastrointestinal carcinoma HP:0002014 | Diarrhea HP:0002231 | Sparse body hair HP:0100840 | Aplasia/Hypoplasia of the eyebrow HP:0001903 | Anemia HP:0002024 | Malabsorption HP:0003003 | Colon cancer HP:0001250 | Seizures HP:0000224 | Decreased taste sensation HP:0002664 | Neoplasm HP:0000221 | Furrowed tongue HP:0000256 | Macrocephaly HP:0001182 | Tapered finger HP:0012126 | Stomach cancer HP:0002597 | Abnormality of the vasculature HP:0002240 | Hepatomegaly HP:0008391 | Dystrophic fingernails HP:0001744 | Splenomegaly HP:0001800 | Hypoplastic toenails HP:0004326 | Cachexia HP:0001596 | Alopecia HP:0001231 | Abnormality of the fingernails HP:0007440 | Generalized hyperpigmentation HP:0002039 | Anorexia |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:6) HP:0012126 | Gastric cancer | 3 HP:0003003 | Colon cancer | 1 HP:0002576 | Intussusception | 1 HP:0002242 | Enteropathy | 1 HP:0002243 | Protein-losing enteropathy | 1 HP:0002583 | Colitis | 1 |
| Disease ID | 719 |
|---|---|
| Disease | cronkhite-canada syndrome |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:5) |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:1) |
Manually Genotype(Total Text Mining Genotypes:0) |
|---|
| (Waiting for update.) |
Text Mining Genotype(Total 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:8) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0100840 | Aplasia/Hypoplasia of the eyebrow | MP:0012167 | abnormal epigenetic regulation of gene expression | any anomaly in the process that modulates the frequency, rate or extent of gene expression, in which the process is mitotically or meiotically heritable, or is stably self-propagated in the cytoplasm of a resting cell, and does not entail a change in DNA |
| HP:0002232 | Patchy alopecia | MP:0000414 | alopecia | absence of hair due to loss of hair; not in reference to primary genetic hairlessness but may be due to dietary, stress or secondary to immune condition |
| HP:0000221 | Furrowed tongue | MP:0000764 | abnormal tongue epithelium morphology | any structural anomaly of the epithelial layer of the tongue |
| HP:0002672 | Gastrointestinal carcinoma | MP:0004868 | increased endometrial carcinoma incidence | greater than the expected number of a malignant neoplasm arising from the endometrial tissue, occurring in a specific population in a given time period |
| HP:0001231 | Abnormality of the fingernails | MP:0012069 | abnormal horizontal basal cell of olfactory epithelium morphology | any structural anomaly of the flat or angular epithelial cell with condensed nuclei and darkly staining cytoplasm containing numerous intermediate filaments inserted into desmosomes contacting surrounding supporting cells, that lie in contact with the bas |
| HP:0002231 | Sparse body hair | MP:0010682 | abnormal hair follicle infundibulum morphology | any structural anomaly of the most proximal part of the hair follicle relative to the epidermis, extending from the sebaceous duct to the epidermal surface |
| HP:0001000 | Abnormality of skin pigmentation | MP:0009536 | abnormal interstitial cell of Cajal morphology | any structural anomaly in the type of cell found in the gastrointestinal tract and serving as a pacemaker that triggers gut contraction; ICCs mediate inputs from the enteric nervous system to smooth muscle cells and are thought to be the cells from which |
| HP:0007440 | Generalized hyperpigmentation | MP:0001188 | hyperpigmentation | excess of pigment in any or all tissues or a part of a tissue |
Mapped by homologous gene(Total Items:32) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0002672 | Gastrointestinal carcinoma | MP:0013328 | visceromegaly | abnormal enlargement of the viscera, esp. internal organs in the abdomen, including liver, spleen, stomach, kidneys, and pancreas |
| HP:0002664 | Neoplasm | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0001250 | Seizures | MP:3000003 | abnormal Ebner's gland morphology | any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l |
| HP:0000221 | Furrowed tongue | MP:0014171 | increased fatty acid oxidation | increased rate or incidence of the process of removal of one or more electrons from a fatty acid, with or without the concomitant removal of a proton or protons, by reaction with an electron-accepting substance, by addition of oxygen or by removal of hydr |
| HP:0012126 | Stomach cancer | MP:0014152 | absent exorbital lacrimal gland | absence of the large extra-orbital lacrimal gland that, in mice, is normally located subcutaneously at the anteroventral base of the ear adjacent to the parotid gland |
| HP:0001810 | Dystrophic toenail | MP:0013241 | embryo tissue necrosis | morphological changes resulting from pathological death of some or all embryo tissue; usually due to irreversible damage |
| HP:0002231 | Sparse body hair | MP:0014082 | decreased small intestinal villus height | decreased height of the tiny hair-like projections which protrude from the inside of the small intestine and contain blood vessels that capture digested nutrients that are absorbed through the intestinal wall; usually accompanied by crypt elongation or hy |
| HP:0004326 | Cachexia | MP:0013659 | abnormal erythroid lineage cell morphology | any structural anomaly of an immature or mature cell in the lineage leading to and including erythrocytes |
| HP:0002240 | Hepatomegaly | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0001004 | Lymphedema | MP:0014171 | increased fatty acid oxidation | increased rate or incidence of the process of removal of one or more electrons from a fatty acid, with or without the concomitant removal of a proton or protons, by reaction with an electron-accepting substance, by addition of oxygen or by removal of hydr |
| HP:0001903 | Anemia | MP:0020316 | decreased vascular endothelial cell proliferation | decrease in the expansion rate of any vascular endothelial cell population by cell division |
| HP:0002024 | Malabsorption | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| HP:0001744 | Splenomegaly | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0001182 | Tapered finger | MP:0014178 | increased brain apoptosis | increase in the number of cells of the brain undergoing programmed cell death |
| HP:0000518 | Cataract | MP:3000003 | abnormal Ebner's gland morphology | any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l |
| HP:0001231 | Abnormality of the fingernails | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0001000 | Abnormality of skin pigmentation | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0002232 | Patchy alopecia | MP:0013282 | urinary bladder exstrophy | a herniation of the urinary bladder through an anterior abdominal wall defect; refers to congenital absence of a portion of the lower anterior abdominal wall and the anterior urinary bladder wall, with eversion of the posterior bladder wall through the de |
| HP:0002014 | Diarrhea | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| HP:0012378 | Fatigue | MP:0013659 | abnormal erythroid lineage cell morphology | any structural anomaly of an immature or mature cell in the lineage leading to and including erythrocytes |
| HP:0002039 | Anorexia | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001800 | Hypoplastic toenails | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0002027 | Abdominal pain | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| HP:0007440 | Generalized hyperpigmentation | MP:0014167 | ectopic bone | the appearance of an extra bone structure at an atypical location |
| HP:0200008 | Intestinal polyposis | MP:0014171 | increased fatty acid oxidation | increased rate or incidence of the process of removal of one or more electrons from a fatty acid, with or without the concomitant removal of a proton or protons, by reaction with an electron-accepting substance, by addition of oxygen or by removal of hydr |
| HP:0004390 | Hamartomatous polyposis | MP:0014171 | increased fatty acid oxidation | increased rate or incidence of the process of removal of one or more electrons from a fatty acid, with or without the concomitant removal of a proton or protons, by reaction with an electron-accepting substance, by addition of oxygen or by removal of hydr |
| HP:0003003 | Colon cancer | MP:0020039 | increased bone ossification | increase in the formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance |
| HP:0000224 | Decreased taste sensation | MP:0012541 | absent lamina terminalis | absence of the anterior-most (rostral) portion of the wall of the neural tube, formed by closure of the anterior neuropore; agenesis of the lamina terminalis results in anencephaly |
| HP:0100840 | Aplasia/Hypoplasia of the eyebrow | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0000256 | Macrocephaly | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0008391 | Dystrophic fingernails | MP:0013781 | abnormal mammary gland luminal epithelium morphology | any structural anomaly of the inner cell layer of the mammary epithelium bilayer that lines the luminal surface of mammary gland ducts and alveoli; luminal cells have only limited contact with the underlying basement membrane and surrounding connective ti |
| HP:0001596 | Alopecia | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| Disease ID | 719 |
|---|---|
| Disease | cronkhite-canada syndrome |
| Case | (Waiting for update.) |