{"Name":"Acrokerato-elastoidosis","DiseaseID__c":"GARD:0000125","id":125,"encodedName":"acrokerato-elastoidosis","IsDeleted":false,"Disease_Name_Full__c":"Acrokerato-elastoidosis","Xref_IDs__c":"C0545044; C535653; DOID:0060362; MEDGEN:107467; MONDO:0007047; OMIM:101850; ORPHA:38","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":2,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0007047","Disease_Description__c":"A rare punctate palmoplantar keratoderma characterized by multiple small, round to oval or rhomboid, yellowish, hyperkeratotic papules and plaques most commonly localized to the palms of the hands and soles of the feet, potentially extending to the dorsum of the hands and feet in severe cases. Histopathological analysis shows hyperkeratosis, epidermal hypertrophy, and fragmentation and rarefaction of elastic fibers. The condition can be sporadic or familial.","GARD_Name__c":"Acrokerato-elastoidosis","GARD_Synonym__c":"acrokeratoelastoidosis of costa; ake; collagenous plaques of hands and feet; keratoderma, palmoplantar, punctate type 3; palmoplantar keratoderma, punctate type iii; ppkp3; ppkp3 - palmoplantar keratoderma punctate type 3; punctate palmoplantar hyperkeratosis type 3; punctate palmoplantar keratoderma type 3; punctate palmoplantar keratoderma type iii","Curated_Disease_Description_Source__c":"MONDO:0007047","Curated_Disease_Description__c":"A rare punctate palmoplantar keratoderma characterized by multiple small, round to oval or rhomboid, yellowish, hyperkeratotic papules and plaques most commonly localized to the palms of the hands and soles of the feet, potentially extending to the dorsum of the hands and feet in severe cases. Histopathological analysis shows hyperkeratosis, epidermal hypertrophy, and fragmentation and rarefaction of elastic fibers. The condition can be sporadic or familial.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as a Teenager and as an Adult","SourceID__c":"ORPHA:38","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0007047","ORPHANET_ID__c":"ORPHA:38","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Acroqueratoelastoidosis de costa","Spanish_Description_Source__c":"ORPHA:38","Spanish_Description__c":"Es una queratodermia palmoplantar puntiforme poco frecuente caracterizada por múltiples pápulas y placas pequeñas, redondas a ovaladas o romboidales, amarillentas e hiperqueratósicas, localizadas más comúnmente en las palmas de las manos y las plantas de los pies, y que en casos graves se extienden potencialmente al dorso de las manos y los pies. El análisis histopatológico muestra hiperqueratosis, hipertrofia epidérmica y fragmentación y rarefacción de fibras elásticas. El trastorno puede ser esporádico o familiar.","Spanish_Disease_Name__c":"acroqueratoelastoidosis de costa","Spanish_GARD_Synonym__c":"ake; hiperqueratosis palmoplantar punctata tipo 3; ppkp3; queratodermia palmoplantar punctata tipo 3","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 punctate palmoplantar keratoderma characterized by multiple small, round to oval or rhomboid, yellowish, hyperkeratotic papules and plaques most commonly localized to the palms of the hands and soles of the feet, potentially extending to the dorsum of the hands and feet in severe cases. Histopathological analysis shows hyperkeratosis, epidermal hypertrophy, and fragmentation and rarefaction of elastic fibers. The condition can be sporadic or familial.","Curated_Disease_Description_Source__c":"MONDO:0007047","GARD_Synonym__c":"acrokeratoelastoidosis of costa; ake; collagenous plaques of hands and feet; keratoderma, palmoplantar, punctate type 3; palmoplantar keratoderma, punctate type iii; ppkp3; ppkp3 - palmoplantar keratoderma punctate type 3; punctate palmoplantar hyperkeratosis type 3; punctate palmoplantar keratoderma type 3; punctate palmoplantar keratoderma type iii","Name":"Acrokerato-elastoidosis","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Foundation for Ichthyosis and Related Skin Types","Website__c":"https://www.firstskinfoundation.org/"}],"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":"Adult","Provided_By__c":"ORPHA:38"},{"Age_At_Onset__c":"Adolescent","Provided_By__c":"ORPHA:38"}],"External_Identifier_Disease__c":[{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0545044","Source__c":"C0545044","Xref__c":"C0545044"},{"URL__c":"https://www.orpha.net/en/disease/detail/38","Source__c":"C0545044; MONDO:0007047; ORPHA:38","Xref__c":"ORPHA:38"},{"URL__c":"https://www.omim.org/entry/101850","Source__c":"C0545044; MONDO:0007047; ORPHA:38","Xref__c":"OMIM:101850"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C535653","Source__c":"MONDO:0007047","Xref__c":"C535653"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=107467","Source__c":"C0545044","Xref__c":"MEDGEN:107467"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0060362","Source__c":"MONDO:0007047","Xref__c":"DOID:0060362"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0007047","Source__c":"GARD:0000125","Xref__c":"MONDO:0007047"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=111029001","Source__c":"C0545044","Xref__c":"111029001"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"CCDC91","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:38","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Elastic fibers in the dermis exhibit an increased number of breaks associated with disorganization of the structure of the elastic fibers.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025167","HPO_Name__c":"Fragmented elastic fibers in the dermis","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:38","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"An abnormality of the leg.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002814","HPO_Synonym__c":"Abnormality of the leg; Abnormality of the lower limb; Lower limb deformities","HPO_Name__c":"Abnormality of the lower limb","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:38","HPO_Frequency__c":"Frequent (30-79%)","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:38","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 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:38","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Formation of an anuclear keratin layer","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0040162","HPO_Name__c":"Orthokeratosis","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:38","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A papule with yellow color.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025507","HPO_Name__c":"Yellow papule","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:38","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Abnormal thickening of the skin localized to the palm of the hand and the sole of the foot.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000972","HPO_Synonym__c":"Hyperkeratosis of palms and soles; Hyperkeratosis of the palms and soles; Palmoplantar keratoses; Palmoplantar keratosis; Thick palms and soles; Thickened palms and soles; Thickening of the outer layer of the skin of the palms and soles","HPO_Name__c":"Palmoplantar hyperkeratosis","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:38","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Flesh-colored or yellowish papules, 2 mm or larger, that are responses to internal mechanical pressure and weakness in the connective tissue in the dermis, appear commonly over the medial aspect of the heel, but in some cases on the wrists. They are thought to represent herniations of adipose tissue through the plantar fascia retinaculum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025509","HPO_Name__c":"Piezogenic pedal papules","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:38","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A granulomatous inflammation leading to multiple granuloma formation, which is a specific type of inflammation. A granuloma is a focal compact collection of inflammatory cells, mononuclear cells predominating, usually as a result of the persistence of a non-degradable product and of active cell mediated hypersensitivity.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002955","HPO_Name__c":"Granulomatosis","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:38","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:38","HPO_Frequency__c":"Occasional (5-29%)","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:38","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006089","HPO_Synonym__c":"Excessive sweating of hands","HPO_Name__c":"Palmar hyperhidrosis","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Dermatology"],"Specialist":["Genetics","Dermatology","Pediatrics"],"Account":["Dermatology"]},"synonyms":["acrokeratoelastoidosis of costa"," ake"," collagenous plaques of hands and feet"," keratoderma, palmoplantar, punctate type 3"," palmoplantar keratoderma, punctate type iii"," ppkp3"," ppkp3 - palmoplantar keratoderma punctate type 3"," punctate palmoplantar hyperkeratosis type 3"," punctate palmoplantar keratoderma type 3"," punctate palmoplantar keratoderma type iii"]}