{"Name":"Acrokeratosis verruciformis of Hopf","DiseaseID__c":"GARD:0016707","id":16707,"encodedName":"acrokeratosis-verruciformis-of-hopf","IsDeleted":false,"Disease_Name_Full__c":"Acrokeratosis verruciformis of Hopf","Xref_IDs__c":"400085009; C0265971; C27519; DOID:0050606; MEDGEN:75589; MONDO:0007048; OMIM:101900; ORPHA:79151","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":3,"Description_Source__c":"MONDO:0007048","Disease_Description__c":"A rare genetic skin keratinization disorder with an autosomal dominant mode of inheritance. It is characterized by numerous flesh-colored warty papules on the back of the hands, medial aspect of the feet, knees, and elbows.","GARD_Name__c":"Acrokeratosis verruciformis of Hopf","GARD_Synonym__c":"acrokeratosis verruciformis; akv; akv - acrokeratosis verruciformis; akv of hopf; hopf disease","Curated_Disease_Description_Source__c":"ORPHA:79151","Curated_Disease_Description__c":"A rare, genetic, acrokeratoderma disease characterized by multiple, symmetrical, asymptomatic, skin-colored (rarely, brownish), flat-topped, wart-like papules located on the dorsal aspects of the hands and feet (occasionally found on other parts of the body, such as knees, elbows and forearms), typically associated with palmoplantar punctate keratosis and variable nail involvement (including leukonychia, thickening, ridging, longitudinal striations and splitting). Histology reveals undulating hyperkeratosis, papillomatosis, hypergranulosis, and acanthosis, creating a characteristic 'church spire' appearance, with no acantholysis nor dyskeratosis associated.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"at a variety of ages","SourceID__c":"ORPHA:79151","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0007048","ORPHANET_ID__c":"ORPHA:79151","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Acroqueratosis verruciforme de hopf","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"acroqueratosis verruciforme de hopf","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":"A rare, genetic, acrokeratoderma disease characterized by multiple, symmetrical, asymptomatic, skin-colored (rarely, brownish), flat-topped, wart-like papules located on the dorsal aspects of the hands and feet (occasionally found on other parts of the body, such as knees, elbows and forearms), typically associated with palmoplantar punctate keratosis and variable nail involvement (including leukonychia, thickening, ridging, longitudinal striations and splitting). Histology reveals undulating hyperkeratosis, papillomatosis, hypergranulosis, and acanthosis, creating a characteristic 'church spire' appearance, with no acantholysis nor dyskeratosis associated.","Curated_Disease_Description_Source__c":"ORPHA:79151","GARD_Synonym__c":"acrokeratosis verruciformis; akv; akv - acrokeratosis verruciformis; akv of hopf; hopf disease","Name":"Acrokeratosis verruciformis of Hopf","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":"Infancy","Provided_By__c":"ORPHA:79151"},{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:79151"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:79151"}],"External_Identifier_Disease__c":[{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0265971","Source__c":"C0265971","Xref__c":"C0265971"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=75589","Source__c":"C0265971","Xref__c":"MEDGEN:75589"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0050606","Source__c":"MONDO:0007048","Xref__c":"DOID:0050606"},{"URL__c":"https://www.omim.org/entry/101900","Source__c":"C0265971; MONDO:0007048; ORPHA:79151","Xref__c":"OMIM:101900"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=400085009","Source__c":"C0265971; MONDO:0007048","Xref__c":"400085009"},{"URL__c":"https://www.orpha.net/en/disease/detail/79151","Source__c":"C0265971; MONDO:0007048; ORPHA:79151","Xref__c":"ORPHA:79151"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C27519","Source__c":"C0265971; MONDO:0007048","Xref__c":"C27519"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0007048","Source__c":"GARD:0016707","Xref__c":"MONDO:0007048"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"ATP2A2","GHR_URL__c":"https://medlineplus.gov/genetics/gene/atp2a2","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:79151","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A plaque is a solid, raised, plateau-like (flat-topped) lesion greater than 1 cm in diameter.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0200035","HPO_Name__c":"Skin plaque","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79151","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Diffuse hypertrophy or thickening of the stratum spinosum of the epidermis (prickle cell layer of the skin).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025092","HPO_Synonym__c":"Acanthosis; Acanthotic epidermis; Thickening of upper layer of skin","HPO_Name__c":"Epidermal acanthosis","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79151","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007530","HPO_Name__c":"Punctate palmoplantar hyperkeratosis","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79151","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Aplasia of the nail.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001798","HPO_Synonym__c":"Absent nails; Aplastic nails","HPO_Name__c":"Anonychia","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79151","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A papule with the same color as the surrounding skin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025512","HPO_Synonym__c":"Flesh-colored papule","HPO_Name__c":"Skin-colored papule","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79151","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Hyperkeratosis is a histopathological term defining a thickened stratum corneum and may be present in many different skin conditions, with many possible overlaps. Hyperkeratosis refers to the increased thickness of the stratum corneum, the outer layer of the skin. Hyperkeratosis is subclassified as orthokeratotic or parakeratotic. Orthokeratotic hyperkeratosis refers to the thickening of the keratin layer with preserved keratinocyte maturation, while parakeratotic hyperkeratosis shows retained nuclei as a sign of delayed maturation of keratinocytes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000962","HPO_Synonym__c":"Epidermal hyperkeratosis","HPO_Name__c":"Hyperkeratosis","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79151","HPO_Frequency__c":"Excluded (0%)","Feature__r":{"HPO_Description__c":"The loss of intercellular connections, such as desmosomes, resulting in loss of cohesion between keratinocytes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100792","HPO_Name__c":"Acantholysis","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79151","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Onychodystrophy (nail dystrophy) refers to nail changes apart from changes of the color (nail dyschromia) and involves partial or complete disruption of the various keratinous layers of the nail plate.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008404","HPO_Synonym__c":"Dystrophic nails; Onychodystrophy; Poor nail formation","HPO_Name__c":"Nail dystrophy","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79151","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Warts, benign growths on the skin or mucous membranes that cause cosmetic problems as well as pain and discomfort. Warts most often occur on the hands, feet, and genital areas.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0200043","HPO_Synonym__c":"Warts","HPO_Name__c":"Verrucae","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79151","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Hypergranulosis is an increased thickness of the stratum granulosum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025114","HPO_Name__c":"Hypergranulosis","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79151","HPO_Frequency__c":"Excluded (0%)","Feature__r":{"HPO_Description__c":"Abnormal formation of the keratinocytes of the epidermis characterized by persistence of nuclei, incomplete formation of keratin, and moistness and swelling of the keratinocytes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001036","HPO_Name__c":"Parakeratosis","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79151","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"White discoloration of the nails.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001820","HPO_Synonym__c":"White discoloration of nails","HPO_Name__c":"Leukonychia","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Dermatology"],"Specialist":["Genetics","Dermatology","Pediatrics"],"Account":["Dermatology"]},"synonyms":["acrokeratosis verruciformis"," akv"," akv - acrokeratosis verruciformis"," akv of hopf"," hopf disease"]}