{"Name":"Familial reactive perforating collagenosis","DiseaseID__c":"GARD:0013331","id":13331,"encodedName":"familial-reactive-perforating-collagenosis","IsDeleted":false,"Disease_Name_Full__c":"Familial reactive perforating collagenosis","Xref_IDs__c":"C1857624; C565687; MEDGEN:347504; MONDO:0009000; OMIM:216700; ORPHA:79147","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":3,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0009000","Disease_Description__c":"Familial reactive perforating collagenosis is a very rare genetic skin disease characterized by transepidermal elimination of collagen fibers presenting as recurrent spontaneously involuting keratotic papules or nodules.","GARD_Name__c":"Familial reactive perforating collagenosis","GARD_Synonym__c":null,"Curated_Disease_Description_Source__c":"PlainLanguagePilotV1-Sep23","Curated_Disease_Description__c":"Familial reactive perforating collagenosis is a rare skin disease can be passed down in families. It causes small bumps or lumps on the skin that can come and go on their own. These bumps are made up of collagen fibers that are pushed out through the skin.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Child","SourceID__c":"ORPHA:79147","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0009000","ORPHANET_ID__c":"ORPHA:79147","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Colagenosis perforante reactiva familiar","Spanish_Description_Source__c":"ORPHA:79147","Spanish_Description__c":"Es una enfermedad cutánea de origen genético muy poco frecuente caracterizada por la eliminación transepidérmica de las fibras de colágeno dérmicas que se manifiesta clínicamente como pápulas o nódulos queratósicos recurrentes y autoinvolutivos.","Spanish_Disease_Name__c":"colagenosis perforante reactiva 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 reactive perforating collagenosis is a rare skin disease can be passed down in families. It causes small bumps or lumps on the skin that can come and go on their own. These bumps are made up of collagen fibers that are pushed out through the skin.","Curated_Disease_Description_Source__c":"PlainLanguagePilotV1-Sep23","Name":"Familial reactive perforating collagenosis","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":"Childhood","Provided_By__c":"ORPHA:79147"}],"External_Identifier_Disease__c":[{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1857624","Source__c":"C1857624","Xref__c":"C1857624"},{"URL__c":"https://www.orpha.net/en/disease/detail/79147","Source__c":"C1857624; MONDO:0009000; ORPHA:79147","Xref__c":"ORPHA:79147"},{"URL__c":"https://www.omim.org/entry/216700","Source__c":"C1857624; MONDO:0009000; ORPHA:79147","Xref__c":"OMIM:216700"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C565687","Source__c":"MONDO:0009000","Xref__c":"C565687"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=347504","Source__c":"C1857624","Xref__c":"MEDGEN:347504"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0009000","Source__c":"GARD:0013331","Xref__c":"MONDO:0009000"}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:79147","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Abnormality of the oral mucosa.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011830","HPO_Synonym__c":"Abnormality of lining of mouth; Abnormality of mucosa of mouth; Abnormality of oral mucosa; Abnormality of oral mucous membrane","HPO_Name__c":"Abnormal oral mucosa morphology","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79147","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased disposition to experience pruritus.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000989","HPO_Synonym__c":"Itching; Itchy skin; Skin itching","HPO_Name__c":"Pruritus","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79147","HPO_Frequency__c":"Excluded (0%)","Feature__r":{"HPO_Description__c":"An abnormality of the fingernails.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001231","HPO_Synonym__c":"Abnormal fingernails; Abnormality of the fingernails","HPO_Name__c":"Abnormal fingernail morphology","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79147","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormality of the morphology of the epidermis.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011124","HPO_Synonym__c":"Abnormality of epidermal morphology","HPO_Name__c":"Abnormal epidermal morphology","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79147","HPO_Frequency__c":"Excluded (0%)","Feature__r":{"HPO_Description__c":"Any abnormality of the teeth.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000164","HPO_Synonym__c":"Abnormal dentition; Abnormal teeth; Dental abnormalities; Dental abnormality; Dental anomalies","HPO_Name__c":"Abnormality of the dentition","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79147","HPO_Frequency__c":"Excluded (0%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001005","HPO_Name__c":"Dermatological manifestations of systemic disorders","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79147","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Any anomaly of the scalp, the skin an subcutaneous tissue of the head on which head hair grows.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001965","HPO_Synonym__c":"Abnormality of the scalp; Anomaly of scalp","HPO_Name__c":"Abnormal scalp morphology","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79147","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A circumscribed, solid elevation of skin with no visible fluid that is reddish (erythematous) in color.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030350","HPO_Name__c":"Erythematous papule","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79147","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007473","HPO_Name__c":"Crusting erythematous dermatitis","Feature_System__c":"Skin System; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79147","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormality of the region situated around the orbit of the eye.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000606","HPO_Name__c":"Abnormality of the periorbital region","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79147","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An elevated number of elastic fibers, that is of bundles of proteins and glycoproteins in the extracellular matrix in the reticular dermis. Elastic fibers can stretch and recoil back to their original length. This feature can be appreciated on histology with hematoxylin and eosin or other staining methods.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025164","HPO_Name__c":"Increased number of elastic fibers in the dermis","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79147","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0031512","HPO_Name__c":"Abnormal cutaneous collagen fibril morphology","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79147","HPO_Frequency__c":"Excluded (0%)","Feature__r":{"HPO_Description__c":"Functional anomaly of the kidney persisting for at least three months.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012622","HPO_Synonym__c":"Chronic kidney disease; CKD","HPO_Name__c":"Chronic kidney disease","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79147","HPO_Frequency__c":"Frequent (30-79%)","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 that is composed of localized hyperkeratosis (the latter may be demonstrated histopathologically).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0045059","HPO_Name__c":"Hyperkeratotic papule","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79147","HPO_Frequency__c":"Excluded (0%)","Feature__r":{"HPO_Description__c":"A group of abnormalities characterized by hyperglycemia and glucose intolerance.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000819","HPO_Name__c":"Diabetes mellitus","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79147","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Inflammation surrounding hair follicles.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012322","HPO_Synonym__c":"Perifollicular inflammation","HPO_Name__c":"Perifolliculitis","Feature_System__c":"Skin System; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79147","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005585","HPO_Synonym__c":"Patchy hyperpigmentation; Spotty increased pigmentation","HPO_Name__c":"Spotty hyperpigmentation","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79147","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormality of the pinna, which is also referred to as the auricle or external ear.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000377","HPO_Synonym__c":"Abnormal form of ears; Abnormally shaped ears; Auricular malformation; Deformed auricles; Deformed ears; Dysplastic ears; Malformation of auricle; Malformed auricles; Malformed ears; Malformed external ears; Minor malformation of the auricles; Poorly defined conchae","HPO_Name__c":"Abnormal pinna morphology","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79147","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A skin rash that is characterized by diffuse cutaneous erythema with areas of skin elevation. It may evolve to vesicles or papules as part of a more severe clinical entity. Different degrees of angioedema with involvement of subcutaneous tissue may also appear.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0040186","HPO_Name__c":"Maculopapular exanthema","Feature_System__c":"Skin System; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79147","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The presence of inflammation of the skin. That is, an abnormality of the skin resulting from the local accumulation of fluid, plasma proteins, and leukocytes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011123","HPO_Synonym__c":"Abnormal tendency to infections of the skin; Inflammatory abnormality of the skin; Skin inflammation","HPO_Name__c":"Inflammatory abnormality of the skin","Feature_System__c":"Skin System; Immune System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Dermatology"],"Specialist":["Genetics","Dermatology","Pediatrics"],"Account":["Dermatology"]},"synonyms":[""]}