{"Name":"Atrophoderma vermiculatum","DiseaseID__c":"GARD:0009744","id":9744,"encodedName":"atrophoderma-vermiculatum","IsDeleted":false,"Disease_Name_Full__c":"Atrophoderma vermiculatum","Xref_IDs__c":"2736005; C0263429; DOID:0080756; MEDGEN:82666; MONDO:0008849; OMIM:209700; ORPHA:79100","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":3,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":1,"Description_Source__c":"ORPHA:79100","Disease_Description__c":"A rare genetic skin disease characterized by childhood onset of follicular keratotic papules slowly progressing to characteristic ''honeycomb'' atrophy on the cheeks, preauricular area, and forehead. Less frequently, the condition may affect also the upper lip, ears, or limbs. Additional features include facial erythema, milia, and follicular plugs.","GARD_Name__c":"Atrophoderma vermiculatum","GARD_Synonym__c":"acne vermoulante; atrophoderma vermiculata; atrophodermia reticulata symmetrica faciei; atrophodermia vermiculata; ava; folliculitis ulerythematosa reticulata; folliculitis ulerythematosa reticulate; honeycomb atrophy; honeycomb atrophy of face; keratosis pilaris affecting the follicles of the eyebrow hairs; type of genodermatosis; vermiculata atrophoderma","Curated_Disease_Description_Source__c":"ORPHA:79100","Curated_Disease_Description__c":"A rare genetic skin disease characterized by childhood onset of follicular keratotic papules slowly progressing to characteristic 'honeycomb' atrophy on the cheeks, preauricular area, and forehead. Less frequently, the condition may affect also the upper lip, ears, or limbs. Additional features include facial erythema, milia, and follicular plugs.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as a Child","SourceID__c":"ORPHA:79100","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0008849","ORPHANET_ID__c":"ORPHA:79100","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Atrofodermia vermiculada","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"atrofodermia vermiculada","Spanish_GARD_Synonym__c":"foliculitis uleritematosa reticulada","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":"A rare genetic skin disease characterized by childhood onset of follicular keratotic papules slowly progressing to characteristic 'honeycomb' atrophy on the cheeks, preauricular area, and forehead. Less frequently, the condition may affect also the upper lip, ears, or limbs. Additional features include facial erythema, milia, and follicular plugs.","Curated_Disease_Description_Source__c":"ORPHA:79100","GARD_Synonym__c":"acne vermoulante; atrophoderma vermiculata; atrophodermia reticulata symmetrica faciei; atrophodermia vermiculata; ava; folliculitis ulerythematosa reticulata; folliculitis ulerythematosa reticulate; honeycomb atrophy; honeycomb atrophy of face; keratosis pilaris affecting the follicles of the eyebrow hairs; type of genodermatosis; vermiculata atrophoderma","Name":"Atrophoderma vermiculatum","estimateUsa":""}],"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:79100"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0009744","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=82666","Source__c":"C0263429","Xref__c":"MEDGEN:82666"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0263429","Source__c":"C0263429","Xref__c":"C0263429"},{"URL__c":"https://www.orpha.net/en/disease/detail/79100","Source__c":"C0263429; MONDO:0008849; ORPHA:79100","Xref__c":"ORPHA:79100"},{"URL__c":"https://www.omim.org/entry/209700","Source__c":"C0263429; MONDO:0008849; ORPHA:79100","Xref__c":"OMIM:209700"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0080756","Source__c":"MONDO:0008849","Xref__c":"DOID:0080756"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=2736005","Source__c":"C0263429; MONDO:0008849","Xref__c":"2736005"},{"URL__c":"https://hpo.jax.org/browse/term/HP:0100837","Source__c":"C0263429","Xref__c":"HP:0100837"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0008849","Source__c":"GARD:0009744","Xref__c":"MONDO:0008849"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"LRP1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:79100","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormality of the neck.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000464","HPO_Synonym__c":"Abnormality of the neck; Anomaly of the neck","HPO_Name__c":"Abnormality of the neck","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79100","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:79100","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An anomaly of the forehead.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000290","HPO_Synonym__c":"Abnormality of the forehead; Abnormality of the frontal region of the face","HPO_Name__c":"Abnormal forehead morphology","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79100","HPO_Frequency__c":"Very frequent (80-99%)","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:79100","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A small, skin-lined tract that leads from the surface to deep within the tissues.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100276","HPO_Synonym__c":"Skin pit","HPO_Name__c":"Skin pit","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79100","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Redness of the skin, caused by hyperemia of the capillaries in the lower layers of the skin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010783","HPO_Synonym__c":"Redness of skin or mucous membrane","HPO_Name__c":"Erythema","Feature_System__c":"Skin System; Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79100","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A benign peripheral nerve sheath tumor that generally appears as a soft, skin-colored papule or small subcutaneous nodule. Individuals with neurofibromatosis can have numerous neurofibromas.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001067","HPO_Synonym__c":"Neurofibromata; Neurofibromatosis","HPO_Name__c":"Neurofibroma","Feature_System__c":"Nervous System; Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79100","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormality of the chin, i.e., of the inferior portion of the face lying inferior to the lower lip and including the central prominence of the lower jaw.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000306","HPO_Synonym__c":"Abnormality of the chin","HPO_Name__c":"Abnormality of the chin","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79100","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality of the cheek- one of two bilateral soft tissue facial structures in the region of the face inferior to the eyes and between the nose and the ear. \\\"Buccal\\\" means relating to the cheek. The cheek is part of the midface","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004426","HPO_Synonym__c":"Abnormality of the cheek; Abnormality of the cheeks","HPO_Name__c":"Abnormal cheek morphology","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79100","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:79100","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Impaired conduction of cardiac impulse occurring anywhere along the conduction pathway.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012722","HPO_Name__c":"Heart block","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79100","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Benign congenital lesions of the periauricular soft tissue consisting of a blind-ending narrow tube or pit.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100277","HPO_Synonym__c":"Periauricular earpits; Periauricular fistulas; Periauricular pits; Periauricular sinus; Pits around the ear","HPO_Name__c":"Periauricular skin pits","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79100","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Scars that form a depression compared to the level of the surrounding skin because of damage to the collagen, fat or other tissues below the skin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001075","HPO_Synonym__c":"Sunken or indented skin due to damage; Thin, atrophic scars","HPO_Name__c":"Atrophic scars","Feature_System__c":"Skin System; Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79100","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007515","HPO_Name__c":"Hypoplastic pilosebaceous units","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79100","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An unpleasant sensory and emotional experience associated with actual or potential tissue damage, or described in terms of such damage.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012531","HPO_Synonym__c":"Pain","HPO_Name__c":"Pain","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79100","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Atypical behavior is an abnormality in a person's actions that can be controlled or modulated by the will of the individual. While abnormal behaviors can be difficult to control, they are distinct from other abnormal actions that cannot be affected by the individual's will.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000708","HPO_Synonym__c":"Behavioral abnormality; Behavioral changes; Behavioral disorders; Behavioral disturbances; Behavioral problems; Behavioral symptoms; Behavioral/psychiatric abnormalities; Behavioural symptoms; Behavioural/Psychiatric abnormality; Psychiatric disorders; Psychiatric disturbances","HPO_Name__c":"Atypical behavior","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79100","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A skin condition characterized by excessive development of keratin in hair follicles, resulting in rough, cone-shaped, elevated papules resulting from closure of hair follicles with a white plug of sebum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007502","HPO_Synonym__c":"Hyperkeratosis follicularis","HPO_Name__c":"Follicular hyperkeratosis","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Dermatology"],"Specialist":["Genetics","Dermatology","Pediatrics"],"Account":["Dermatology"]},"synonyms":["acne vermoulante"," atrophoderma vermiculata"," atrophodermia reticulata symmetrica faciei"," atrophodermia vermiculata"," ava"," folliculitis ulerythematosa reticulata"," folliculitis ulerythematosa reticulate"," honeycomb atrophy"," honeycomb atrophy of face"," keratosis pilaris affecting the follicles of the eyebrow hairs"," type of genodermatosis"," vermiculata atrophoderma"]}