Gene: CARD8
Cytoband position: 19q13.33
OMIM: 609051
RVIS score: 1.18
RVIS percentage: 92.79
| Phenotype name | HPO ID | Alternative HPO ID | Phenotype description |
|---|---|---|---|
| Abnormal esophagus morphology | HP:0002031 | None | A structural abnormality of the esophagus. |
| Protein-losing enteropathy | HP:0002243 | None | Abnormal loss of protein from the digestive tract related to excessive leakage of plasma proteins into the lumen of the gastrointestinal tract. |
| Abnormality of the small intestine | HP:0002244 | None | An abnormality of the small intestine. |
| Abnormal duodenum morphology | HP:0002246 | None | An abnormality of the duodenum, i.e., the first section of the small intestine. |
| Abnormal large intestine morphology | HP:0002250 | None | Any abnormality of the large intestine. |
| Esophagitis | HP:0100633 | None | Inflammation of the esophagus. |
| Abnormal stomach morphology | HP:0002577 | None | An abnormality of the stomach. |
| Colitis | HP:0002583 | None | Colitis refers to an inflammation of the colon and is often used to describe an inflammation of the large intestine (colon, cecum and rectum). Colitides may be acute and self-limited or chronic, and broadly fit into the category of digestive diseases. |
| Abnormality of the immune system | HP:0002715 | HP:0010986 | An abnormality of the immune system. |
| Abnormality of the gastric mucosa | HP:0004295 | None | An abnormality of the gastric mucous membrane. |
| Gastrointestinal inflammation | HP:0004386 | None | Inflammation of the alimentary part of the gastrointestinal system. |
| Gastritis | HP:0005263 | None | The presence of inflammation of the gastric mucous membrane. |
| Abnormality of the digestive system | HP:0025031 | None | None |
| Abnormality of digestive system physiology | HP:0025032 | None | A functional anomaly of the digestive system. |
| Abnormality of digestive system morphology | HP:0025033 | None | A structural anomaly of the digestive system. |
| Bloody diarrhea | HP:0025085 | None | Passage of many stools containing blood. |
| Constitutional symptom | HP:0025142 | None | A symptom or manifestation indicating a systemic or general effect of a disease and that may affect the general well-being or status of an individual. |
| Abnormality of immune system physiology | HP:0010978 | None | A functional abnormality of the immune system. |
| Abnormality of the gastrointestinal tract | HP:0011024 | None | An abnormality of the gastrointestinal tract. |
| Abdominal symptom | HP:0011458 | None | A subjective manifestation of disease localized to the abdomen. |
| Pain | HP:0012531 | None | An unpleasant sensory and emotional experience associated with actual or potential tissue damage, or described in terms of such damage. |
| Abnormal inflammatory response | HP:0012647 | None | Any anomaly of the inflammatory response, a response to injury or infection characterized by local vasodilation, extravasation of plasma into intercellular spaces and accumulation of white blood cells and macrophages. |
| Increased inflammatory response | HP:0012649 | None | A abnormal increase in the inflammatory response to injury or infection. |
| Morphological abnormality of the gastrointestinal tract | HP:0012718 | None | Abnormal structure of the gastrointestinal tract. |
| Functional abnormality of the gastrointestinal tract | HP:0012719 | None | Abnormal functionality of the gastrointestinal tract. |
| Ileitis | HP:0032564 | None | Inflammation of the ileum. |
| Autosomal dominant inheritance | HP:0000006 | HP:0001463 | A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. |
| Duodenitis | HP:0033117 | None | Inflammation of the lining of the upper small intestine (duodenum). |
| Pancolitis | HP:0033256 | None | Inflammation of the entire colon. |
| Abnormal ileum morphology | HP:0001549 | None | None |
| Vomiting | HP:0002013 | None | Forceful ejection of the contents of the stomach through the mouth by means of a series of involuntary spasmic contractions. |
| Diarrhea | HP:0002014 | None | Abnormally increased frequency of loose or watery bowel movements. |
| Abdominal pain | HP:0002027 | None | An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) and perceived to originate in the abdomen. |
| Chronic diarrhea | HP:0002028 | None | The presence of chronic diarrhea, which is usually taken to mean diarrhea that has persisted for over 4 weeks. |
| Nausea and vomiting | HP:0002017 | None | Nausea is a commonly encountered symptom that has been defined as an unpleasant painless subjective feeling that one will imminently vomit. Vomiting has been defined as the forceful expulsion of the contents of the stomach, duodenum, or jejunum through the oral cavity. While nausea and vomiting are often thought to exist on a temporal continuum, this is not always the case. There are situations when severe nausea may be present without emesis and less frequently, when emesis may be present without preceding nausea. |
| Inflammation of the large intestine | HP:0002037 | None | Inflammation, or an inflammatory state in the large intestine. |
| Abnormal intestine morphology | HP:0002242 | HP:0002628 | An abnormality of the intestine. The closely related term enteropathy is used to refer to any disease of the intestine. |