{"Name":"Epidermolysis bullosa simplex due to plakophilin deficiency","DiseaseID__c":"GARD:0009705","id":9705,"encodedName":"epidermolysis-bullosa-simplex-due-to-plakophilin-deficiency","IsDeleted":false,"Disease_Name_Full__c":"Epidermolysis bullosa simplex due to plakophilin deficiency","Xref_IDs__c":"716699004; C1858302; C536183; MEDGEN:388032; MONDO:0011472; OMIM:604536; ORPHA:158668","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:0011472","Disease_Description__c":"Epidermolysis bullosa simplex due to plakophilin deficiency (EBS-PD) is a suprabasal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by generalized superficial erosions and less commonly blistering.","GARD_Name__c":"Epidermolysis bullosa simplex due to plakophilin deficiency","GARD_Synonym__c":"dsp-related ectodermal dysplasia/skin fragility syndrome; ectodermal dysplasia skin fragility syndrome; ectodermal dysplasia-skin fragility syndrome; ectodermal dysplasia/skin fragility syndrome; mcgrath syndrome; pkp1-related ectodermal dysplasia/skin fragility syndrome","Curated_Disease_Description_Source__c":"MONDO:0011472","Curated_Disease_Description__c":"Epidermolysis bullosa simplex due to plakophilin deficiency (EBS-PD) is a suprabasal subtype of epidermolysis bullosa simplex (EBS) characterized by generalized superficial erosions and less commonly blistering.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as a Newborn and as an Infant","SourceID__c":"ORPHA:158668","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0011472","ORPHANET_ID__c":"ORPHA:158668","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de displasia ectodérmica-fragilidad cutánea","Spanish_Description_Source__c":"ORPHA:158668","Spanish_Description__c":"La epidermólisis ampollosa simple debida a una déficit de placofilina (EBS-PD) es un subtipo suprabasal de epidermólisis ampollosa simple (EBS, consulte este término) caracterizado por erosiones superficiales generalizadas y, menos frecuentemente, por la formacion de ampollas.","Spanish_Disease_Name__c":"síndrome de displasia ectodérmica-fragilidad cutánea","Spanish_GARD_Synonym__c":"síndrome de mcgrath","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":"Epidermolysis bullosa simplex due to plakophilin deficiency (EBS-PD) is a suprabasal subtype of epidermolysis bullosa simplex (EBS) characterized by generalized superficial erosions and less commonly blistering.","Curated_Disease_Description_Source__c":"MONDO:0011472","GARD_Synonym__c":"dsp-related ectodermal dysplasia/skin fragility syndrome; ectodermal dysplasia skin fragility syndrome; ectodermal dysplasia-skin fragility syndrome; ectodermal dysplasia/skin fragility syndrome; mcgrath syndrome; pkp1-related ectodermal dysplasia/skin fragility syndrome","Name":"Epidermolysis bullosa simplex due to plakophilin deficiency","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"National Foundation for Ectodermal Dysplasias","Website__c":"https://www.nfed.org/"},{"Account_Name__c":"Epidermolysis Bullosa Medical Research Foundation","Website__c":"https://ebmrf.org/"},{"Account_Name__c":"Canadian Ectodermal Dysplasia Syndromes Association","Website__c":"https://ectodermaldysplasia.ca/"},{"Account_Name__c":"EB Research Partnership","Website__c":"https://www.ebresearch.org/"},{"Account_Name__c":"DEBRA International","Website__c":"https://www.debra-international.org/"},{"Account_Name__c":"DEBRA of America","Website__c":"https://www.debra.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":"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:158668"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:158668"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C1858302"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0009705","Source__c":"RareSource"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=716699004","Source__c":"C1858302; MONDO:0011472","Xref__c":"716699004"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=388032","Source__c":"C1858302","Xref__c":"MEDGEN:388032"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1858302","Source__c":"C1858302","Xref__c":"C1858302"},{"URL__c":"https://www.omim.org/entry/604536","Source__c":"C1858302; MONDO:0011472; ORPHA:158668","Xref__c":"OMIM:604536"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C536183","Source__c":"MONDO:0011472","Xref__c":"C536183"},{"URL__c":"https://www.orpha.net/en/disease/detail/158668","Source__c":"C1858302; MONDO:0011472; ORPHA:158668","Xref__c":"ORPHA:158668"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0011472","Source__c":"GARD:0009705","Xref__c":"MONDO:0011472"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"PKP1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:158668","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Loss of all hair on the entire body.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002289","HPO_Synonym__c":"Alopecia, complete","HPO_Name__c":"Alopecia universalis","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:158668","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased disposition to experience pruritus.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000989","HPO_Synonym__c":"Itching; Itchy skin; Skin itching","HPO_Name__c":"Pruritus","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:158668","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Narrowing of the urethra associated with inflammation or scar tissue.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012227","HPO_Name__c":"Urethral stricture","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:158668","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The presence of one or more bullae on the skin, defined as fluid-filled blisters more than 5 mm in diameter with thin walls.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008066","HPO_Synonym__c":"Abnormal blistering of the skin; Blister; Blistering, generalized; Blisters; Skin bullae","HPO_Name__c":"Abnormal blistering of the skin","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:158668","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Refers to the loss of the outer layer of the epidermis in large, scale-like flakes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0040189","HPO_Synonym__c":"Desquamation; flaking skin; peeling skin; Scaling skin; Scaly skin","HPO_Name__c":"Scaling skin","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:158668","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Reduced density of hairs.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008070","HPO_Synonym__c":"Decreased hair growth; Decreased hair growth on body; Hypotrichosis; Marked hypotrichosis; Sparse hair; Sparse hair since birth","HPO_Name__c":"Sparse hair","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:158668","HPO_Frequency__c":"Frequent (30-79%)","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":"ORPHA:158668","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Caries is a multifactorial bacterial infection affecting the structure of the tooth. This term has been used to describe the presence of more than expected dental caries.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000670","HPO_Synonym__c":"Caries; Cariosity of teeth; Dental caries; Dental cavities; Early dental caries; Frequent caries; Tooth cavities; Tooth decay","HPO_Name__c":"Carious teeth","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:158668","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Skin that splits easily with minimal injury.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001030","HPO_Synonym__c":"Fragile skin; Skin fragility","HPO_Name__c":"Fragile skin","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:158668","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Any abnormality of the teeth.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000164","HPO_Synonym__c":"Abnormal dentition; Abnormal teeth; Dental abnormalities; Dental abnormality; Dental anomalies","HPO_Name__c":"Abnormality of the dentition","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:158668","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":"ORPHA:158668","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormality of the morphology of the tooth.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006482","HPO_Synonym__c":"Abnormality of dental morphology; Abnormality of dental shape; Abnormality of shape of tooth; Abnormally shaped teeth; Deformity of teeth; Dental deformity; Dental malformations; 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