{"Name":"Hypopigmentation-punctate palmoplantar keratoderma syndrome","DiseaseID__c":"GARD:0012384","id":12384,"encodedName":"hypopigmentation-punctate-palmoplantar-keratoderma-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Hypopigmentation-punctate palmoplantar keratoderma syndrome","Xref_IDs__c":"711154007; C3809781; MEDGEN:816111; MONDO:0014227; OMIM:615522; ORPHA:324561","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":1,"World_Estimate__c":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":1,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":2,"Description_Source__c":"ORPHA:324561","Disease_Description__c":"A rare, genetic, epidermal disease characterized by punctate keratoderma on palms and soles associated with irregularly shaped hypopigmented macules (typically localized on the extremities). Ectopic calcification (e.g. early-onset calcific tendinopathy, calcinosis cutis) and pachyonychia may be occasionally associated.","GARD_Name__c":"Hypopigmentation-punctate palmoplantar keratoderma syndrome","GARD_Synonym__c":"cole disease; guttate hypopigmentation and punctate palmoplantar keratoderma; guttate hypopigmentation and punctate palmoplantar keratoderma with or without ectopic calcification; hypopigmentation and punctate keratosis of the palms and soles","Curated_Disease_Description_Source__c":"ORPHA:324561","Curated_Disease_Description__c":"Cole disease is a disorder that affects the skin. People with this disorder have areas of unusually light-colored skin (hypopigmentation), typically on the arms and legs, and spots of thickened skin on the palms of the hands and the soles of the feet (punctate palmoplantar keratoderma). These skin features are present at birth or develop in the first year of life. In some cases, individuals with Cole disease develop abnormal accumulations of the mineral calcium (calcifications) in the tendons, which can cause pain during movement. Calcifications may also occur in the skin or breast tissue.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Newborn and as an Infant","SourceID__c":"ORPHA:324561","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0014227","ORPHANET_ID__c":"ORPHA:324561","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de hipopigmentación-queratodermia palmoplantar punctata","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"síndrome de hipopigmentación-queratodermia palmoplantar punctata","Spanish_GARD_Synonym__c":"enfermedad de cole; hipopigmentación guttata y queratodermia palmoplantar punctata; hipopigmentación y queratosis punctata de palmas y plantas","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":"Cole disease is a disorder that affects the skin. People with this disorder have areas of unusually light-colored skin (hypopigmentation), typically on the arms and legs, and spots of thickened skin on the palms of the hands and the soles of the feet (punctate palmoplantar keratoderma). These skin features are present at birth or develop in the first year of life. In some cases, individuals with Cole disease develop abnormal accumulations of the mineral calcium (calcifications) in the tendons, which can cause pain during movement. Calcifications may also occur in the skin or breast tissue.","Curated_Disease_Description_Source__c":"ORPHA:324561","GARD_Synonym__c":"cole disease; guttate hypopigmentation and punctate palmoplantar keratoderma; guttate hypopigmentation and punctate palmoplantar keratoderma with or without ectopic calcification; hypopigmentation and punctate keratosis of the palms and soles","Name":"Hypopigmentation-punctate palmoplantar keratoderma syndrome","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"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":"Infancy","Provided_By__c":"ORPHA:324561"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:324561"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C3809781"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0012384","Source__c":"RareSource"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=711154007","Source__c":"C3809781; MONDO:0014227","Xref__c":"711154007"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C3809781","Source__c":"C3809781","Xref__c":"C3809781"},{"URL__c":"https://www.orpha.net/en/disease/detail/324561","Source__c":"C3809781; MONDO:0014227; ORPHA:324561","Xref__c":"ORPHA:324561"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=816111","Source__c":"C3809781","Xref__c":"MEDGEN:816111"},{"URL__c":"https://www.omim.org/entry/615522","Source__c":"C3809781; MONDO:0014227; ORPHA:324561","Xref__c":"OMIM:615522"},{"URL__c":"https://medlineplus.gov/genetics/condition/cole-disease","Source__c":"GARD:0012384","Xref__c":"https://medlineplus.gov/genetics/condition/cole-disease"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0014227","Source__c":"GARD:0012384","Xref__c":"MONDO:0014227"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"ENPP1","GHR_URL__c":"https://medlineplus.gov/genetics/gene/enpp1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:615522","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":"OMIM:615522","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":"OMIM:615522","HPO_Frequency__c":"Very frequent (80-99%)","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":"OMIM:615522","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":"OMIM:615522","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":"OMIM:615522","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Abnormal thickening of the skin of the palms of the hands and the soles of the feet.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000982","HPO_Synonym__c":"Keratoderma; Palmar and plantar keratoderma; Thickening of palms and soles","HPO_Name__c":"Palmoplantar keratoderma","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:615522","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Deposition of calcium salts in a tissue or location in which calcification does not normally occur.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010766","HPO_Name__c":"Ectopic calcification","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:615522","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Deposition of calcium in the skin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025520","HPO_Synonym__c":"Cutaneous calcification","HPO_Name__c":"Calcinosis cutis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:615522","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":"OMIM:615522","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A white or lighter patch of skin that may appear anywhere on the body and are caused by decreased skin pigmentation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0020073","HPO_Name__c":"Hypopigmented macule","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Dermatology"],"Specialist":["Genetics","Dermatology","Pediatrics"],"Account":["Dermatology"]},"synonyms":["cole disease"," guttate hypopigmentation and punctate palmoplantar keratoderma"," guttate hypopigmentation and punctate palmoplantar keratoderma with or without ectopic calcification"," hypopigmentation and punctate keratosis of the palms and soles"]}