{"Name":"Attenuated familial adenomatous polyposis","DiseaseID__c":"GARD:0008532","id":8532,"encodedName":"attenuated-familial-adenomatous-polyposis","IsDeleted":false,"Disease_Name_Full__c":"Attenuated familial adenomatous polyposis","Xref_IDs__c":"715866009; C2674616; C538265; C6729; MEDGEN:436213; MONDO:0016362; ORPHA:220460","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":3,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0016362","Disease_Description__c":"A mild form of familial adenomatous polyposis characterized by the presence of fewer than 100 adenomatous colonic polyps, a more proximal colonic location, a delayed age of colorectal cancer onset and a more limited expression of the extracolonic features.","GARD_Name__c":"Attenuated familial adenomatous polyposis","GARD_Synonym__c":"aapc; afap; attenuated adenomatous polyposis coli; attenuated familial polyposis coli; attenuated fap; hereditary flat adenoma syndrome; hfas","Curated_Disease_Description_Source__c":"GARD:0008532","Curated_Disease_Description__c":"Attenuated familial adenomatous polyposis (AFAP) is an inherited condition that increases the chance to develop cancer of the large intestine (colon) and rectum. It is a milder form of classic familial adenomatous polyposis (FAP). Symptoms may include colon polyps, benign or malignant tumors of the duodenum (a section of the small intestine) and, in rare cases, other symptoms of FAP. AFAP is caused by genetic changes in the APC gene and is inherited in an autosomal dominant manner.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as an Adult","SourceID__c":"ORPHA:220460","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0016362","ORPHANET_ID__c":"ORPHA:220460","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Poliposis adenomatosa familiar atenuada","Spanish_Description_Source__c":"ORPHA:220460","Spanish_Description__c":"Es una forma leve de poliposis adenomatosa familiar caracterizada por la presencia de menos de 100 pólipos colorrectales adenomatosos de localización preferentemente proximal, retraso en la edad de presentación del cancer colorrectal y una limitada expresión de manifestaciones extracolónicas.","Spanish_Disease_Name__c":"poliposis adenomatosa familiar atenuada","Spanish_GARD_Synonym__c":"paf atenuada; paf atenuada asociada a apc; pafa; pafa asociada a apc; poliposis coli familiar atenuada; poliposis coli familiar atenuada asociada a apc; poliposis colónica familiar atenuada; poliposis colónica familiar atenuada asociada a apc","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":"Attenuated familial adenomatous polyposis (AFAP) is an inherited condition that increases the chance to develop cancer of the large intestine (colon) and rectum. It is a milder form of classic familial adenomatous polyposis (FAP). Symptoms may include colon polyps, benign or malignant tumors of the duodenum (a section of the small intestine) and, in rare cases, other symptoms of FAP. AFAP is caused by genetic changes in the APC gene and is inherited in an autosomal dominant manner.","Curated_Disease_Description_Source__c":"GARD:0008532","GARD_Synonym__c":"aapc; afap; attenuated adenomatous polyposis coli; attenuated familial polyposis coli; attenuated fap; hereditary flat adenoma syndrome; hfas","Name":"Attenuated familial adenomatous polyposis","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"American Cancer Society","Website__c":"https://www.cancer.org"},{"Account_Name__c":"Fight Colorectal Cancer","Website__c":"https://fightcolorectalcancer.org/"},{"Account_Name__c":"Colon Cancer Alliance","Website__c":"https://www.ccalliance.org/"}],"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"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:220460"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C2674616"}],"External_Identifier_Disease__c":[{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C6729","Source__c":"C2674616; MONDO:0016362","Xref__c":"C6729"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=715866009","Source__c":"C2674616; MONDO:0016362","Xref__c":"715866009"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C2674616","Source__c":"C2674616","Xref__c":"C2674616"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=436213","Source__c":"C2674616","Xref__c":"MEDGEN:436213"},{"URL__c":"https://www.orpha.net/en/disease/detail/220460","Source__c":"C2674616; MONDO:0016362; ORPHA:220460","Xref__c":"ORPHA:220460"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C538265","Source__c":"MONDO:0016362","Xref__c":"C538265"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0016362","Source__c":"GARD:0008532","Xref__c":"MONDO:0016362"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"APC","GHR_URL__c":"https://medlineplus.gov/genetics/gene/apc","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive","Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:220460","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The presence of multiple polyps in the large intestine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030255","HPO_Name__c":"Large intestinal polyposis","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:220460","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The presence of a leiomyoma of the uterus.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000131","HPO_Synonym__c":"Benign uterine leiomyomas; Uterine fibroid","HPO_Name__c":"Uterine leiomyoma","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:220460","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Presence of multiple polyps in the duodenum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004783","HPO_Synonym__c":"Multiple duodenal polyps","HPO_Name__c":"Duodenal polyposis","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:220460","HPO_Frequency__c":"Frequent (30-79%)","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:220460","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A tumor of the skin or mucous membrane with finger-like projections.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012740","HPO_Name__c":"Papilloma","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:220460","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0040276","HPO_Name__c":"Adenocarcinoma of the colon","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:220460","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Presence of multiple adenomatous polyps in the colon.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005227","HPO_Synonym__c":"Multiple adenomatous colon polyps; Multiple colonic adenomatous polyps","HPO_Name__c":"Adenomatous colonic polyposis","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:220460","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Benign tumors that are composed of fibrous or connective tissue. They can grow in all organs, arising from mesenchyme tissue. The term \\\"fibroblastic\\\" or \\\"fibromatous\\\" is used to describe tumors of the fibrous connective tissue. When the term fibroma is used without modifier, it is usually considered benign, with the term fibrosarcoma reserved for malignant tumors.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010614","HPO_Name__c":"Fibroma","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:220460","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The presence of a adenoma of the thyroid gland.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000854","HPO_Name__c":"Thyroid adenoma","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:220460","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A tumor (abnormal growth of tissue) of the stomach.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006753","HPO_Synonym__c":"Stomach tumor","HPO_Name__c":"Neoplasm of the stomach","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:220460","HPO_Frequency__c":"Excluded (0%)","Feature__r":{"HPO_Description__c":"Sharply demarcated, congenital hyperpigmentation of the retinal pigment epithelium. It can be solitary, clustered or multifocal, uni- or bilateral.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007649","HPO_Name__c":"Congenital hypertrophy of retinal pigment epithelium","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:220460","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Multiple abnormal growths that arise from the lining of the large intestine (colon or rectum) and protrude into the intestinal lumen.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0200063","HPO_Synonym__c":"Colorectal polyps","HPO_Name__c":"Colorectal polyposis","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:220460","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Astrocytoma is a neoplasm of the central nervous system derived from astrocytes. Astrocytes are a type of glial cell, and thus astrocytoma is a subtype of glioma.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009592","HPO_Name__c":"Astrocytoma","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:220460","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The presence of many cysts in the kidney.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005562","HPO_Synonym__c":"Multiple kidney cysts","HPO_Name__c":"Multiple renal cysts","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:220460","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"The presence of a carcinoma of the breast.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003002","HPO_Synonym__c":"Breast cancer","HPO_Name__c":"Breast carcinoma","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:220460","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002672","HPO_Synonym__c":"GI carcinoma","HPO_Name__c":"Gastrointestinal carcinoma","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:220460","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004394","HPO_Name__c":"Multiple gastric polyps","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:220460","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Pilomatricoma is an asymptomatic slowly growing benign cutaneous tumor, differentiating towards the hair matrix of the hair follicle. It is covered by normal or hyperemic skin, and usually varies in size from 0.5 to 3 cm.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030434","HPO_Name__c":"Pilomatrixoma","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:220460","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:220460","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"The presence of a papillary adenocarcinoma of the thyroid gland.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002895","HPO_Synonym__c":"Papillary carcinoma of thyroid; Thyroid papillary carcinoma","HPO_Name__c":"Papillary thyroid carcinoma","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:220460","HPO_Frequency__c":"Frequent (30-79%)","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:220460","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Adrenocortical adenomas are benign tumors of the adrenal cortex.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008256","HPO_Synonym__c":"Adrenocortical adenomas","HPO_Name__c":"Adrenocortical adenoma","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:220460","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"A malignant neoplasm of the adrenal cortex that may produce hormones such as cortisol, aldosterone, estrogen, or testosterone.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006744","HPO_Synonym__c":"Adrenal carcinoma; Adrenal gland carinoma","HPO_Name__c":"Adrenocortical carcinoma","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Specialist":["Cancer - Oncologist","Genetics","Gastroenterology"],"Cause":["Genetics"],"Disease Category":["Genetics","Gastroenterology"]},"synonyms":["aapc"," afap"," attenuated adenomatous polyposis coli"," attenuated familial polyposis coli"," attenuated fap"," hereditary flat adenoma syndrome"," hfas"]}