{"Name":"Reticulate acropigmentation of Kitamura","DiseaseID__c":"GARD:0017079","id":17079,"encodedName":"reticulate-acropigmentation-of-kitamura","IsDeleted":false,"Disease_Name_Full__c":"Reticulate acropigmentation of Kitamura","Xref_IDs__c":"239133004; C0406811; DOID:0060258; MEDGEN:98363; MONDO:0014234; OMIM:615537; ORPHA:178307","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":3,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":3,"Description_Source__c":"MONDO:0014234","Disease_Description__c":"A pigmentation disease characterized by lesions that initially arise as letiginous, hyperpigmented macules in a reticular pattern on the dorsal aspect of the hands and feet. Over time, lesions may spread proximally and may darken; palmoplantar pitting and dermatoglyphic disruption may also be present.","GARD_Name__c":"Reticulate acropigmentation of Kitamura","GARD_Synonym__c":"kitamura reticulate acropigmentation; kitamura's reticulate acropigmentation; rak; rapk; reticular pigment anomaly of flexures","Curated_Disease_Description_Source__c":"ORPHA:178307","Curated_Disease_Description__c":"A rare, genetic, hyperpigmentation of the skin disease characterized by childhood to adulthood-onset of reticulate, slightly depressed, sharply demarcated, brown, macular skin lesions without hypopigmentation, affecting the dorsa of the hands and feet, and, occasionally, progressing to involve limbs, neck, forehead and/or trunk. Interrupted dermatoglyphics and palmoplantar pits may be additionally observed. Histologically, hyperpigmented lesions show slightly elongated and thinned rete ridges, mild hyperkeratosis without parakeratosis and absence of incontinentia pigmenti.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"from Childhood to Adulthood","SourceID__c":"ORPHA:178307","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0014234","ORPHANET_ID__c":"ORPHA:178307","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Acropigmentación reticulada de kitamura","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"acropigmentación reticulada de kitamura","Spanish_GARD_Synonym__c":"rak","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, hyperpigmentation of the skin disease characterized by childhood to adulthood-onset of reticulate, slightly depressed, sharply demarcated, brown, macular skin lesions without hypopigmentation, affecting the dorsa of the hands and feet, and, occasionally, progressing to involve limbs, neck, forehead and/or trunk. Interrupted dermatoglyphics and palmoplantar pits may be additionally observed. Histologically, hyperpigmented lesions show slightly elongated and thinned rete ridges, mild hyperkeratosis without parakeratosis and absence of incontinentia pigmenti.","Curated_Disease_Description_Source__c":"ORPHA:178307","GARD_Synonym__c":"kitamura reticulate acropigmentation; kitamura's reticulate acropigmentation; rak; rapk; reticular pigment anomaly of flexures","Name":"Reticulate acropigmentation of Kitamura","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":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:178307"},{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:178307"},{"Age_At_Onset__c":"Adolescent","Provided_By__c":"ORPHA:178307"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=98363","Source__c":"C0406811","Xref__c":"MEDGEN:98363"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0406811","Source__c":"C0406811","Xref__c":"C0406811"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0060258","Source__c":"MONDO:0014234","Xref__c":"DOID:0060258"},{"URL__c":"https://www.orpha.net/en/disease/detail/178307","Source__c":"C0406811; MONDO:0014234; ORPHA:178307","Xref__c":"ORPHA:178307"},{"URL__c":"https://www.omim.org/entry/615537","Source__c":"C0406811; MONDO:0014234; ORPHA:178307","Xref__c":"OMIM:615537"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=239133004","Source__c":"C0406811; MONDO:0014234","Xref__c":"239133004"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0014234","Source__c":"GARD:0017079","Xref__c":"MONDO:0014234"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"ADAM10","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:615537","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":"OMIM:615537","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A flat, distinct, discolored area of skin less than 1 cm wide that does not involve any change in the thickness or texture of the skin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012733","HPO_Synonym__c":"Flat, discolored area of skin","HPO_Name__c":"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":["kitamura reticulate acropigmentation"," kitamura's reticulate acropigmentation"," rak"," rapk"," reticular pigment anomaly of flexures"]}