{"Name":"Dermatopathia pigmentosa reticularis","DiseaseID__c":"GARD:0008550","id":8550,"encodedName":"dermatopathia-pigmentosa-reticularis","IsDeleted":false,"Disease_Name_Full__c":"Dermatopathia pigmentosa reticularis","Xref_IDs__c":"239088003; C0406778; C535374; DOID:0111342; MEDGEN:98037; MONDO:0007445; OMIM:125595; ORPHA:86920","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":2,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":2,"Description_Source__c":"ORPHA:86920","Disease_Description__c":"A rare, genetic, ectodermal dysplasia characterized by a widespread, early-onset, reticulate hyperpigmentation that persists throughout life, mild, diffuse non-cicatricial alopecia, and onychodystrophy. There are no dental anomalies. Patients may also present with adermatoglyphia, palmoplantar hyperkeratosis, acral dorsal blistering, and hypohidrosis or hyperhidrosis.","GARD_Name__c":"Dermatopathia pigmentosa reticularis","GARD_Synonym__c":"dpr; dpr - dermatopathia pigmentosa reticularis","Curated_Disease_Description_Source__c":"ORPHA:86920","Curated_Disease_Description__c":"A rare, genetic, ectodermal dysplasia characterized by a widespread, early-onset, reticulate hyperpigmentation that persists throughout life, mild, diffuse non-cicatricial alopecia, and onychodystrophy. There are no dental anomalies. Patients may also present with adermatoglyphia, palmoplantar hyperkeratosis, acral dorsal blistering, and hypohidrosis or hyperhidrosis.","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:86920","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0007445","ORPHANET_ID__c":"ORPHA:86920","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Dermatopatía pigmentosa reticularis","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"dermatopatía pigmentosa reticularis","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, ectodermal dysplasia characterized by a widespread, early-onset, reticulate hyperpigmentation that persists throughout life, mild, diffuse non-cicatricial alopecia, and onychodystrophy. There are no dental anomalies. Patients may also present with adermatoglyphia, palmoplantar hyperkeratosis, acral dorsal blistering, and hypohidrosis or hyperhidrosis.","Curated_Disease_Description_Source__c":"ORPHA:86920","GARD_Synonym__c":"dpr; dpr - dermatopathia pigmentosa reticularis","Name":"Dermatopathia pigmentosa reticularis","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":"Congenital Abnormality","Tag_Category__c":"Disease Category","category_description":"Birth defects are structural changes present at birth that can affect almost any part of the body, including how the body looks, works, or both.","curated_tag_name":"Birth defects"},{"Tag_Name__c":"Ectodermal dysplasia","Tag_Category__c":"Account","curated_tag_name":"Ectodermal dysplasias"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:86920"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:86920"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0406778"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0008550","Source__c":"RareSource"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0406778","Source__c":"C0406778","Xref__c":"C0406778"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=98037","Source__c":"C0406778","Xref__c":"MEDGEN:98037"},{"URL__c":"https://www.omim.org/entry/125595","Source__c":"C0406778; MONDO:0007445; ORPHA:86920","Xref__c":"OMIM:125595"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C535374","Source__c":"MONDO:0007445","Xref__c":"C535374"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0111342","Source__c":"MONDO:0007445","Xref__c":"DOID:0111342"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=239088003","Source__c":"C0406778; MONDO:0007445","Xref__c":"239088003"},{"URL__c":"https://www.orpha.net/en/disease/detail/86920","Source__c":"C0406778; MONDO:0007445; ORPHA:86920","Xref__c":"ORPHA:86920"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0007445","Source__c":"GARD:0008550","Xref__c":"MONDO:0007445"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"KRT14","GHR_URL__c":"https://medlineplus.gov/genetics/gene/krt14","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:125595","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":"OMIM:125595","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002293","HPO_Synonym__c":"Pathologic hair loss from scalp; Scalp hair loss","HPO_Name__c":"Alopecia of scalp","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:125595","Feature__r":{"HPO_Description__c":"An abnormality of the conjunctiva.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000502","HPO_Name__c":"Abnormal conjunctiva morphology","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:125595","Feature__r":{"HPO_Description__c":"Increased pigmentation of the skin with a netlike (reticular) pattern.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007588","HPO_Synonym__c":"Reticulate hyperpigmentation","HPO_Name__c":"Reticular hyperpigmentation","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:125595","Feature__r":{"HPO_Description__c":"Abnormally diminished capacity to sweat.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000966","HPO_Synonym__c":"Decreased ability to sweat; Decreased sweating; Impaired sweating; Inadequate sweating; Oligohidrosis; Sweating, decreased","HPO_Name__c":"Hypohidrosis","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:125595","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007455","HPO_Name__c":"Adermatoglyphia","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:125595","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":"OMIM:125595","Feature__r":{"HPO_Description__c":"A net-like pattern of increased pigmentation of the oral cavity.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012788","HPO_Synonym__c":"Mottled pigmentation of oral mucosa; Reticulate pigmentation of oral mucous membrane","HPO_Name__c":"Reticulate pigmentation of oral mucosa","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Dermatology","Congenital Abnormality"],"Specialist":["Genetics","Dermatology","Pediatrics"],"Account":["Dermatology","Ectodermal dysplasia"]},"synonyms":["dpr"," dpr - dermatopathia pigmentosa reticularis"]}