{"Name":"Juvenile polyposis syndrome","DiseaseID__c":"GARD:0003065","id":3065,"encodedName":"juvenile-polyposis-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Juvenile polyposis syndrome","Xref_IDs__c":"9273005; C0345893; C7754; MEDGEN:87518; MONDO:0017380; NBK1469; ORPHA:2929","USA_Estimate__c":"50,000","No_of_Specialist_Tagsa__c":4,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":1,"No_of_HHS_records__c":1,"World_Estimate__c":"80,000 to 800,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":3,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":4,"Description_Source__c":"MONDO:0017380","Disease_Description__c":"A rare condition characterized by the presence of juvenile hamartomatous polyps in the gastrointestinal (GI) tract.","GARD_Name__c":"Juvenile polyposis syndrome","GARD_Synonym__c":"jip; jps; juvenile gastrointestinal polyposis; juvenile intestinal polyposis; juvenile multiple polyps syndrome; juvenile polyposis; juvenile polyposis of intestine; polyposis, juvenile intestinal","Curated_Disease_Description_Source__c":"GARD:0003065","Curated_Disease_Description__c":"Juvenile polyposis syndrome is a disorder characterized by multiple noncancerous (benign) growths called juvenile polyps. People with juvenile polyposis syndrome typically develop polyps before age 20; however, in the name of this condition 'juvenile' refers to the characteristics of the tissues that make up the polyp, not the age of the affected individual. These growths occur in the gastrointestinal tract, typically in the large intestine (colon). The number of polyps varies from only a few to hundreds, even among affected members of the same family.  Polyps may cause gastrointestinal bleeding, a shortage of red blood cells (anemia), abdominal pain, and diarrhea.  Approximately 15 percent of people with juvenile polyposis syndrome have other abnormalities, such as a twisting of the intestines (intestinal malrotation), heart or brain abnormalities, an opening in the roof of the mouth (cleft palate), extra fingers or toes (polydactyly), and abnormalities of the genitalia or urinary tract. Juvenile polyposis syndrome is diagnosed when a person has any one of the following: (1) more than five juvenile polyps of the colon or rectum; (2) juvenile polyps in other parts of the gastrointestinal tract; or (3) any number of juvenile polyps and one or more affected family members. Single juvenile polyps are relatively common in children and are not characteristic of juvenile polyposis syndrome. Three types of juvenile polyposis syndrome have been described, based on the signs and symptoms of the disorder. Juvenile polyposis of infancy is characterized by polyps that occur throughout the gastrointestinal tract during infancy. Juvenile polyposis of infancy is the most severe form of the disorder and is associated with the poorest outcome. Children with this type may develop a condition called protein-losing enteropathy. This condition results in severe diarrhea, failure to gain weight and grow at the expected rate (failure to thrive), and general wasting and weight loss (cachexia). Another type called generalized juvenile polyposis is diagnosed when polyps develop throughout the gastrointestinal tract. In the third type, known as juvenile polyposis coli, affected individuals develop polyps only in their colon. People with generalized juvenile polyposis and juvenile polyposis coli typically develop polyps during childhood. Most juvenile polyps are benign, but there is a chance that polyps can become  cancerous (malignant).  It is estimated that people with juvenile polyposis syndrome have a 10 to 50 percent risk of developing a cancer of the gastrointestinal tract.  The most common type of cancer seen in people with juvenile polyposis syndrome is colorectal cancer.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"50,000","Age_at_Onset_Snippet_Text__c":"at a variety of ages","SourceID__c":"ORPHA:2929","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0017380","ORPHANET_ID__c":"ORPHA:2929","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de poliposis juvenil","Spanish_Description_Source__c":"ORPHA:2929","Spanish_Description__c":"Es una enfermedad poco frecuente caracterizada por la presencia de pólipos hamartomatosos juveniles en el tracto gastrointestinal (GI).","Spanish_Disease_Name__c":"síndrome de poliposis juvenil","Spanish_GARD_Synonym__c":"jip; jips; síndrome de poliposis gastrointestinal juvenil","Category_Linearization__c":"ORPHA:97935","icd10_id__c":null,"mesh_id__c":null,"omim_id__c":null,"snomed_id__c":null,"umls_id__c":null,"GARD_Disease__c":[{"Curated_Disease_Description__c":"Juvenile polyposis syndrome is a disorder characterized by multiple noncancerous (benign) growths called juvenile polyps. People with juvenile polyposis syndrome typically develop polyps before age 20; however, in the name of this condition 'juvenile' refers to the characteristics of the tissues that make up the polyp, not the age of the affected individual. These growths occur in the gastrointestinal tract, typically in the large intestine (colon). The number of polyps varies from only a few to hundreds, even among affected members of the same family.  Polyps may cause gastrointestinal bleeding, a shortage of red blood cells (anemia), abdominal pain, and diarrhea.  Approximately 15 percent of people with juvenile polyposis syndrome have other abnormalities, such as a twisting of the intestines (intestinal malrotation), heart or brain abnormalities, an opening in the roof of the mouth (cleft palate), extra fingers or toes (polydactyly), and abnormalities of the genitalia or urinary tract. Juvenile polyposis syndrome is diagnosed when a person has any one of the following: (1) more than five juvenile polyps of the colon or rectum; (2) juvenile polyps in other parts of the gastrointestinal tract; or (3) any number of juvenile polyps and one or more affected family members. Single juvenile polyps are relatively common in children and are not characteristic of juvenile polyposis syndrome. Three types of juvenile polyposis syndrome have been described, based on the signs and symptoms of the disorder. Juvenile polyposis of infancy is characterized by polyps that occur throughout the gastrointestinal tract during infancy. Juvenile polyposis of infancy is the most severe form of the disorder and is associated with the poorest outcome. Children with this type may develop a condition called protein-losing enteropathy. This condition results in severe diarrhea, failure to gain weight and grow at the expected rate (failure to thrive), and general wasting and weight loss (cachexia). Another type called generalized juvenile polyposis is diagnosed when polyps develop throughout the gastrointestinal tract. In the third type, known as juvenile polyposis coli, affected individuals develop polyps only in their colon. People with generalized juvenile polyposis and juvenile polyposis coli typically develop polyps during childhood. Most juvenile polyps are benign, but there is a chance that polyps can become  cancerous (malignant).  It is estimated that people with juvenile polyposis syndrome have a 10 to 50 percent risk of developing a cancer of the gastrointestinal tract.  The most common type of cancer seen in people with juvenile polyposis syndrome is colorectal cancer.","Curated_Disease_Description_Source__c":"GARD:0003065","GARD_Synonym__c":"jip; jps; juvenile gastrointestinal polyposis; juvenile intestinal polyposis; juvenile multiple polyps syndrome; juvenile polyposis; juvenile polyposis of intestine; polyposis, juvenile intestinal","Name":"Juvenile polyposis syndrome","Curated_USA_Estimate__c":"50,000","estimateUsa":"50,000"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Cancer - Oncologist","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Genetics","Tag_Category__c":"Cause;Disease Category;Specialist","category_description":"Genetic diseases affect the DNA, or genetic instructions, which directs how tissues, organs, and body systems function.","curated_tag_name":"Genetic diseases"},{"Tag_Name__c":"Gastroenterology","Tag_Category__c":"Disease Category;Specialist","category_description":"Gastrointestinal diseases, or digestive diseases, affect the esophagus, stomach, small intestine, large intestine, liver, gallbladder, or pancreas.","curated_tag_name":"Gastrointestinal diseases"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:2929"},{"Age_At_Onset__c":"Adolescent","Provided_By__c":"ORPHA:2929"},{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:2929"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:2929"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C1832942"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK1469","Source__c":"Gene Review","Xref__c":"NBK1469"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK1351","Xref__c":"NBK1351"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=87518","Source__c":"C0345893","Xref__c":"MEDGEN:87518"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=9273005","Source__c":"C0345893; MONDO:0017380","Xref__c":"9273005"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0345893","Source__c":"C0345893","Xref__c":"C0345893"},{"URL__c":"https://www.orpha.net/en/disease/detail/2929","Source__c":"C0345893; MONDO:0017380; ORPHA:2929","Xref__c":"ORPHA:2929"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C7754","Source__c":"C0345893; MONDO:0017380","Xref__c":"C7754"},{"URL__c":"https://medlineplus.gov/genetics/condition/juvenile-polyposis-syndrome","Source__c":"GARD:0003065","Xref__c":"https://medlineplus.gov/genetics/condition/juvenile-polyposis-syndrome"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0017380","Source__c":"GARD:0003065","Xref__c":"MONDO:0017380"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"BMPR1A","GHR_URL__c":"https://medlineplus.gov/genetics/gene/bmpr1a","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"SMAD4","GHR_URL__c":"https://medlineplus.gov/genetics/gene/smad4","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:2929","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Increased pressure in the pre-hepatic portal vein.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004941","HPO_Name__c":"Extrahepatic portal hypertension","Feature_System__c":"Cardiovascular System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2929","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"A decreased concentration of protein in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003075","HPO_Synonym__c":"Decreased protein levels in blood","HPO_Name__c":"Hypoproteinemia","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:2929","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"A collection of pus, immune cells, and other material in the brain.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030049","HPO_Synonym__c":"Brain abscess","HPO_Name__c":"Brain abscess","Feature_System__c":"Nervous System; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2929","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Occipitofrontal (head) circumference greater than 97th centile compared to appropriate, age matched, sex-matched normal standards. Alternatively, a apparently increased size of the cranium.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000256","HPO_Synonym__c":"Increased size of cranium; Increased size of skull; Large head; Large head circumference; Macrocephalus; Macrocrania; Megacephaly","HPO_Name__c":"Macrocephaly","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2929","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A tumor (abnormal growth of tissue) of the gastrointestinal tract.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007378","HPO_Synonym__c":"Gastrointestinal tract neoplasia; Gastrointestinal tract neoplasm; Gastrointestinal tract tumor; GI tract tumor; Neoplasm of the GI tract","HPO_Name__c":"Neoplasm of the gastrointestinal tract","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2929","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"The presence of multiple lipomas (a type of benign tissue made of fatty tissue).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001012","HPO_Synonym__c":"Lipomata; Multiple fatty lumps","HPO_Name__c":"Multiple lipomas","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2929","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100026","HPO_Name__c":"Arteriovenous malformation","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2929","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003003","HPO_Synonym__c":"Colon cancer","HPO_Name__c":"Colon cancer","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2929","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002326","HPO_Synonym__c":"Mini stroke; TIA; Transient ischemic attacks","HPO_Name__c":"Transient ischemic attack","Feature_System__c":"Nervous System; Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2929","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A discrete abnormal tissue mass that protrudes into the lumen of the intestine and is attached to the intestinal wall either by a stalk, pedunculus, or a broad base.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005266","HPO_Synonym__c":"Intestinal polyps","HPO_Name__c":"Intestinal polyp","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2929","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100761","HPO_Name__c":"Visceral angiomatosis","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2929","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) and perceived to originate in the abdomen.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002027","HPO_Synonym__c":"Abdominal pain; Pain in stomach; Stomach pain","HPO_Name__c":"Abdominal pain","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2929","HPO_Frequency__c":"Always (100%)","Feature__r":{"HPO_Description__c":"The presence of multiple juvenile polyps in the stomach and intestine. The term juvenile polyps refer to a special histopathology and not the age of onset as the polyp might be diagnosed at all ages. The juvenile polyp has a spherical appearance and is microscopically characterized by overgrowth of an oedematous lamina propria with inflammatory cells and cystic glands. Juvenile polyps are a specific type of hamartomatous polyps.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004784","HPO_Synonym__c":"Juvenile GI polyposis","HPO_Name__c":"Juvenile gastrointestinal polyposis","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2929","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormality of the intestine in which part of the intestine invaginates (telescopes) into another part of the intestine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002576","HPO_Name__c":"Intussusception","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2929","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Polyp-like protrusions which are histologically hamartomas. These can occur throughout the gastrointestinal tract. Hamartomatous polyps are composed of the normal cellular elements of the gastrointestinal tract, but have a markedly distorted architecture.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004390","HPO_Synonym__c":"Gastrointestinal hamartoma; Hamartomatous polyps","HPO_Name__c":"Hamartomatous polyposis","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2929","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Abnormally increased frequency (usually defined as three or more) loose or watery bowel movements a day.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002014","HPO_Synonym__c":"Diarrhea; Watery stool","HPO_Name__c":"Diarrhea","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2929","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001508","HPO_Synonym__c":"Faltering weight; FTT; Postnatal failure to thrive; Weight faltering","HPO_Name__c":"Failure to thrive","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2929","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Posterior positioning of the nasal root in relation to the overall facial profile for age.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005280","HPO_Synonym__c":"Depressed bridge of nose; Depressed nasal bridge; Depressed nasal root; Flat bridge of nose; Flat nasal bridge; Flat nasal root; Flat, nasal bridge; Flattened nasal bridge; Low nasal bridge; Low nasal root; Retruded bridge of nose; Retruded nasal bridge","HPO_Name__c":"Depressed nasal bridge","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2929","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Abnormal loss of protein from the digestive tract related to excessive leakage of plasma proteins into the lumen of the gastrointestinal tract.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002243","HPO_Name__c":"Protein-losing enteropathy","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2929","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormal morphology (form) of the face or its components.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001999","HPO_Synonym__c":"Abnormal facial shape; Abnormal morphology of the face; Distinctive facies; Dysmorphic facial features; Dysmorphic facies; Facial dysmorphism; Unusual facial appearance; Unusual facies","HPO_Name__c":"Abnormal facial shape","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2929","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"A tumor (abnormal growth of tissue) of the pancreas.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002894","HPO_Synonym__c":"Neoplasia of the pancreas; Pancreatic tumor","HPO_Name__c":"Neoplasm of the pancreas","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2929","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"An extreme form of generalized edema with widespread and massive edema due to effusion of fluid into the extracellular space.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012050","HPO_Synonym__c":"Extreme generalized edema","HPO_Name__c":"Anasarca","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2929","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The presence of a neoplasm of the small intestine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100833","HPO_Synonym__c":"Small intestine tumor","HPO_Name__c":"Neoplasm of the small intestine","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2929","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The presence of multiple polyps in the small intestine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030256","HPO_Name__c":"Small intestinal polyposis","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2929","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006574","HPO_Synonym__c":"Liver arteriovenous malformation","HPO_Name__c":"Hepatic arteriovenous malformation","Feature_System__c":"Cardiovascular System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2929","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A cancer arising in any part of the stomach.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012126","HPO_Synonym__c":"Gastric cancer","HPO_Name__c":"Stomach cancer","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2929","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Pulmonary arteriovenous malformation, a condition most commonly associated with hereditary hemorrhagic telangiectasia, is an abnormal communication between the pulmonary artery and pulmonary vein without an intervening capillary communication. HRCT images usually show a coarse spidery appearance of the peripheral vascular markings in the lungs. More specific findings are obtained in the pulmonary angiogram where the normally invisible capillary phase is replaced by irregular vascular channels bridging the peripheral branches of pulmonary arteries and veins.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006548","HPO_Synonym__c":"Pulmonary AV malformation","HPO_Name__c":"Pulmonary arteriovenous malformation","Feature_System__c":"Cardiovascular System; Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2929","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Interpupillary distance more than 2 SD above the mean (alternatively, the appearance of an increased interpupillary distance or widely spaced eyes).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000316","HPO_Synonym__c":"Excessive orbital separation; Increased distance between eye sockets; Increased distance between eyes; Increased interpupillary distance; Ocular hypertelorism; Wide-set eyes; Widely spaced eyes; Widened interpupillary distance","HPO_Name__c":"Hypertelorism","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2929","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Subjective feeling of tiredness characterized by a lack of energy and motivation that persists for six months or longer.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012432","HPO_Synonym__c":"Chronic extreme exhaustion; Chronic fatigue","HPO_Name__c":"Chronic fatigue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2929","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Telangiectasia of the mucosa, the mucous membranes which are involved in absorption and secretion that line cavities that are exposed to the external environment and internal organs.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100579","HPO_Name__c":"Mucosal telangiectasiae","Feature_System__c":"Skin System; Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2929","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Distance between the commissures of the mouth more than 2 SD below the mean. Alternatively, an apparently decreased width of the oral aperture (subjective).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000160","HPO_Synonym__c":"Microstomia; Narrow mouth; Small mouth; Small oral aperture","HPO_Name__c":"Narrow mouth","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2929","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries and that is located in the brain.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002408","HPO_Synonym__c":"Cerebral AV malformation","HPO_Name__c":"Cerebral arteriovenous malformation","Feature_System__c":"Nervous System; Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2929","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Pulmonary hypertension is defined mean pulmonary artery pressure of 25mmHg or more and pulmonary capillary wedge pressure of 15mmHg or less when measured by right heart catheterisation at rest and in a supine position.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002092","HPO_Synonym__c":"Increased blood pressure in blood vessels of lungs; Pulmonary artery hypertension","HPO_Name__c":"Pulmonary arterial hypertension","Feature_System__c":"Cardiovascular System; Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2929","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Hemorrhage affecting the gastrointestinal tract.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002239","HPO_Synonym__c":"Gastrointestinal bleeding; GI hemorrhage","HPO_Name__c":"Gastrointestinal hemorrhage","Feature_System__c":"Cardiovascular System; Digestive System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2929","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0040231","HPO_Name__c":"Abnormal onset of bleeding","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2929","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A Rectocele results from a tear in the rectovaginal septum (which is normally a tough, fibrous, sheet-like divider between the rectum and vagina). Rectal tissue bulges through this tear and into the vagina as a hernia. There are two main causes of this tear: childbirth, and hysterectomy.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100822","HPO_Name__c":"Rectocele","Feature_System__c":"Musculoskeletal System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2929","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A deficiency or slowing down of growth pre- and postnatally.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001510","HPO_Synonym__c":"Delayed growth; Growth deficiency; Growth delay; Growth failure; Growth retardation; Poor growth; Retarded growth","HPO_Name__c":"Growth delay","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2929","HPO_Frequency__c":"Always (100%)","Feature__r":{"HPO_Description__c":"The presence of more than 5 juvenile polyps of the colon. The term juvenile polyps refer to a special histopathology and not the age of onset as the polyp might be diagnosed at all ages. The juvenile polyp has a spherical appearance and is microscopically characterized by overgrowth of an oedematous lamina propria with inflammatory cells and cystic glands.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012198","HPO_Name__c":"Juvenile colonic polyposis","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2929","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Decreased vertical distance from the vermilion border of the lower lip to the inferior-most point of the chin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000331","HPO_Synonym__c":"Decreased height of chin; Short chin; Short lower third of face; Vertical deficiency of chin; Vertical hypoplasia of chin","HPO_Name__c":"Short chin","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2929","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"The palpebral fissure inclination is more than two standard deviations below the mean.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000494","HPO_Synonym__c":"Antimongoloid eye slant; Antimongoloid slant of palpebral fissures; Antimongoloid slanted palpebral fissures; Down slanting palpebral fissures; Down-slanted palpebral fissures; Down-slanting palpebral fissure; Down-slanting palpebral fissures; Downslanting palpebral fissure; Downslanting palpebral fissures; Downward slanted palpebral fissures; Downward slanting of the opening between the eyelids; Downward slanting palpebral fissures; Downward-slanting palpebral fissures; Palpebral fissures down-slanted","HPO_Name__c":"Downslanted palpebral fissures","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2929","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The passage of fresh (red) blood per anus, usually in or with stools. Most rectal bleeding comes from the colon, rectum, or anus.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002573","HPO_Synonym__c":"Rectal bleeding","HPO_Name__c":"Hematochezia","Feature_System__c":"Cardiovascular System; Digestive System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2929","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004406","HPO_Synonym__c":"Recurrent epistaxes; Recurrent epistaxis; Recurring nosebleed; Spontaneous, recurrent nosebleed","HPO_Name__c":"Spontaneous, recurrent epistaxis","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2929","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Mild intellectual disability (ID) is defined as a type of ID characterized by mildly sub-average adaptive functioning and intellectual functioning, with an intelligence quotient (IQ) the range of 50-69.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001256","HPO_Synonym__c":"Intellectual disability, mild; Mental retardation, borderline-mild; Mild and nonprogressive mental retardation; Mild mental retardation","HPO_Name__c":"Mild intellectual disability","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2929","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Upper insertion of the ear to the scalp below an imaginary horizontal line drawn between the inner canthi of the eye and extending posteriorly to the ear.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000369","HPO_Synonym__c":"Low set ears; Low-set ears; Low-set pinnae; Lowset ears; Melotia","HPO_Name__c":"Low-set ears","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2929","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000969","HPO_Synonym__c":"Dropsy; Fluid retention; Hydrops; Oedema; Water retention","HPO_Name__c":"Edema","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2929","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"A hemangioblastoma is a benign vascular neoplasm that arises almost exclusively in the central nervous system. Hemangioblastomas consist of a tightly packed cluster of small blood vessels forming a mass of up to 1 or 2 cm in diameter.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010797","HPO_Synonym__c":"Haemangioblastoma","HPO_Name__c":"Hemangioblastoma","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2929","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A reduction in erythrocytes volume or hemoglobin concentration.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001903","HPO_Synonym__c":"Anaemia; Low number of red blood cells or hemoglobin","HPO_Name__c":"Anemia","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2929","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002003","HPO_Synonym__c":"Increased size of forehead; Increased size of frontal region of face; Large forehead","HPO_Name__c":"Large forehead","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2929","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Polyp-like protrusions which are histologically hamartomas located in the stomach.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004795","HPO_Name__c":"Hamartomatous stomach polyps","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2929","HPO_Frequency__c":"Always (100%)","Feature__r":{"HPO_Description__c":"The presence of multiple rectal hyperplastic/adenomatous polyps.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100896","HPO_Synonym__c":"Multiple rectal polyps; Rectal polyps","HPO_Name__c":"Rectal polyposis","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2929","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Epistaxis, or nosebleed, refers to a hemorrhage localized in the nose.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000421","HPO_Synonym__c":"Bloody nose; Frequent nosebleeds; Nasal hemorrhage; Nose bleed; Nose bleeding; Nosebleed","HPO_Name__c":"Epistaxis","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2929","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Terminal broadening of the fingers (distal phalanges of the fingers).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100759","HPO_Synonym__c":"Clubbed fingers; Clubbing (hands); Clubbing of fingers; Finger clubbing","HPO_Name__c":"Clubbing of fingers","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Specialist":["Cancer - Oncologist","Genetics","Gastroenterology","Pediatrics"],"Cause":["Genetics"],"Disease Category":["Genetics","Gastroenterology"]},"synonyms":["jip"," jps"," juvenile gastrointestinal polyposis"," juvenile intestinal polyposis"," juvenile multiple polyps syndrome"," juvenile polyposis"," juvenile polyposis of intestine"," polyposis, juvenile intestinal"]}