{"Name":"Familial cutaneous collagenoma","DiseaseID__c":"GARD:0009799","id":9799,"encodedName":"familial-cutaneous-collagenoma","IsDeleted":false,"Disease_Name_Full__c":"Familial cutaneous collagenoma","Xref_IDs__c":"239139000; C0406817; C562925; MEDGEN:96073; MONDO:0007271; OMIM:115250; ORPHA:53296","USA_Estimate__c":"1,000","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":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":1,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0007271","Disease_Description__c":"Familial cutaneous collagenoma is a connective tissue nevus characterized by multiple, flesh-colored asymptomatic nodules distributed symmetrically on the trunk and upper arms (mainly on the upper two-thirds of the back), manifesting around adolescence. The skin biopsy reveals an accumulation of collagen fibers with reduction in the number of elastic fibers. Cardiac anomalies may be observed. Familial cutaneous collagenoma follows an autosomal dominant mode of transmission.","GARD_Name__c":"Familial cutaneous collagenoma","GARD_Synonym__c":null,"Curated_Disease_Description_Source__c":"MONDO:0007271","Curated_Disease_Description__c":"Familial cutaneous collagenoma is a connective tissue nevus characterized by multiple, flesh-colored asymptomatic nodules distributed symmetrically on the trunk and upper arms (mainly on the upper two-thirds of the back), manifesting around adolescence. The skin biopsy reveals an accumulation of collagen fibers with reduction in the number of elastic fibers. Cardiac anomalies may be observed. Familial cutaneous collagenoma follows an autosomal dominant mode of transmission.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Teenager","SourceID__c":"ORPHA:53296","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0007271","ORPHANET_ID__c":"ORPHA:53296","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Colagenoma cutáneo familiar","Spanish_Description_Source__c":"ORPHA:53296","Spanish_Description__c":"Es un nevo de tejido conectivo caracterizado por múltiples nódulos asintomáticos de color carne distribuidos simétricamente en el tronco y en la parte superior de los brazos (principalmente en los dos tercios superiores de la espalda). Suele manifestarse en la adolescencia. La biopsia cutánea revela un aumento del número de fibras de colágeno dérmicas junto con una reducción de fibras elásticas. Puede asociarse a alteraciones cardíacas. Sigue un patrón de transmisión autosómico dominante.","Spanish_Disease_Name__c":"colagenoma cutáneo familiar","Spanish_GARD_Synonym__c":null,"Category_Linearization__c":"ORPHA:89826","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":"Familial cutaneous collagenoma is a connective tissue nevus characterized by multiple, flesh-colored asymptomatic nodules distributed symmetrically on the trunk and upper arms (mainly on the upper two-thirds of the back), manifesting around adolescence. The skin biopsy reveals an accumulation of collagen fibers with reduction in the number of elastic fibers. Cardiac anomalies may be observed. Familial cutaneous collagenoma follows an autosomal dominant mode of transmission.","Curated_Disease_Description_Source__c":"MONDO:0007271","Name":"Familial cutaneous collagenoma","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"GARD_Disease_Tag__c":[{"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":"Dermatology","Tag_Category__c":"Account;Disease Category;Specialist","category_description":"Skin diseases, or integumentary system diseases, affect the skin, hair, nails, sweat glands, or oil glands.","curated_tag_name":"Skin diseases"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Adolescent","Provided_By__c":"ORPHA:53296"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.omim.org/entry/115250","Source__c":"C0406817; MONDO:0007271; ORPHA:53296","Xref__c":"OMIM:115250"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0406817","Source__c":"C0406817","Xref__c":"C0406817"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C562925","Source__c":"MONDO:0007271","Xref__c":"C562925"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=96073","Source__c":"C0406817","Xref__c":"MEDGEN:96073"},{"URL__c":"https://www.orpha.net/en/disease/detail/53296","Source__c":"C0406817; MONDO:0007271; ORPHA:53296","Xref__c":"ORPHA:53296"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=239139000","Source__c":"C0406817; MONDO:0007271","Xref__c":"239139000"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0007271","Source__c":"GARD:0009799","Xref__c":"MONDO:0007271"}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:53296","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Paroxysmal chest pain that occurs with exertion or stress and is related to myocardial ischemia.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001681","HPO_Name__c":"Angina pectoris","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:53296","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A myocardial disorder in which the heart muscle is structurally and functionally abnormal, in the absence of coronary artery disease, hypertension, valvular disease and congenital heart disease sufficient to cause the observed myocardial abnormality.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001638","HPO_Synonym__c":"Disease of the heart muscle","HPO_Name__c":"Cardiomyopathy","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:53296","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Morphologically similar to a papule, but greater than either 10mm in both width and depth, and most frequently centered in the dermis or subcutaneous fat.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0200036","HPO_Synonym__c":"Growth of abnormal tissue on or under the skin","HPO_Name__c":"Skin nodule","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:53296","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A circumscribed, solid elevation of skin with no visible fluid, varying in size from a pinhead to less than 10mm in diameter at the widest point.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0200034","HPO_Synonym__c":"Papules","HPO_Name__c":"Papule","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:53296","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The presence of an abnormality of cardiac function that is responsible for the failure of the heart to pump blood at a rate that is commensurate with the needs of the tissues or a state in which abnormally elevated filling pressures are required for the heart to do so. Heart failure is frequently related to a defect in myocardial contraction.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001635","HPO_Synonym__c":"Cardiac failure; Cardiac failures; Cardiac insufficiency; CHF; Chronic heart failure; Heart failure","HPO_Name__c":"Congestive heart failure","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:53296","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormality of the pigmentation of the skin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001000","HPO_Synonym__c":"Abnormal pigmentation; Abnormal skin color; Abnormal skin pigmentation; Abnormality of pigmentation; Abnormality of skin pigmentation; Pigmentary changes; Pigmentary skin changes; Pigmentation anomaly","HPO_Name__c":"Abnormality of skin pigmentation","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:53296","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Atrial septal defect (ASD) is a congenital abnormality of the interatrial septum that enables blood flow between the left and right atria via the interatrial septum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001631","HPO_Synonym__c":"An opening in the wall separating the top two chambers of the heart; ASD; Atria septal defect; Atrial septum defect; Atrioseptal defect; Defect in the atrial septum; Hole in heart wall separating two upper heart chambers","HPO_Name__c":"Atrial septal defect","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Dermatology"],"Specialist":["Genetics","Dermatology","Pediatrics"],"Account":["Dermatology"]},"synonyms":[""]}