{"Name":"Epidermolysis bullosa simplex with mottled pigmentation","DiseaseID__c":"GARD:0009737","id":9737,"encodedName":"epidermolysis-bullosa-simplex-with-mottled-pigmentation","IsDeleted":false,"Disease_Name_Full__c":"Epidermolysis bullosa simplex with mottled pigmentation","Xref_IDs__c":"254180002; C0432316; C535959; DOID:0111346; MEDGEN:140934; MONDO:0007556; OMIM:131960; ORPHA:79397","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":3,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0007556","Disease_Description__c":"A rare, inherited, epidermolysis bullosa simplex characterized by neonatal or infantile onset of generalized blistering with mottled or reticulate brown pigmentation developing later. Blistering is often accompanied by mild nail dystrophy and focal palmoplantar keratoderma, and rarely by milia and mostly affects the limbs and trunk.","GARD_Name__c":"Epidermolysis bullosa simplex with mottled pigmentation","GARD_Synonym__c":"ebs with mottled pigmentation; ebs-mp; ebs2f; epidermolysis bullosa simplex 2f, with mottled pigmentation; simple epidermolysis bullosa with mottled pigmentation; speckled hyperpigmentation with punctate palmoplantar keratoses and childhood blistering","Curated_Disease_Description_Source__c":"GARD:0009737","Curated_Disease_Description__c":"Epidermolysis bullosa simplex with mottled pigmentation is a rare form of epidermolysis bullosa (EB). EB is a group of genetic conditions that cause the skin to be very fragile and to blister easily. Erosions and blisters form in response to minor injury or friction, such as rubbing or scratching. In EB simplex with mottled pigmentation, blistering may begin at birth. People with this condition have a mottled appearance of their skin (ie., darker and lighter colored spots of skin). Their skin may seem to age more quickly and bruise easily. EB simplex with mottled pigmentation is caused by a genetic change in the keratin-5 gene (KRT5) and is inherited in an autosomal dominant fashion.","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:79397","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0007556","ORPHANET_ID__c":"ORPHA:79397","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Epidermólisis ampollosa simple con pigmentación moteada","Spanish_Description_Source__c":"ORPHA:79397","Spanish_Description__c":"Es una forma hereditaria y poco frecuente de epidermólisis ampollosa simple caracterizada por la formación al nacimiento o durante la infancia de ampollas generalizadas con pigmentación marrón moteada o reticular que se desarrolla más tarde. La formación de ampollas suele ir acompañada de distrofia ungueal leve y queratodermia palmoplantar focal, y rara vez de milia, afectando principalmente a las extremidades y el tronco.","Spanish_Disease_Name__c":"epidermólisis ampollosa simple con pigmentación moteada","Spanish_GARD_Synonym__c":"ebs con pigmentación moteada; epidermólisis bullosa simple con pigmentación moteada","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 with mottled pigmentation is a rare form of epidermolysis bullosa (EB). EB is a group of genetic conditions that cause the skin to be very fragile and to blister easily. Erosions and blisters form in response to minor injury or friction, such as rubbing or scratching. In EB simplex with mottled pigmentation, blistering may begin at birth. People with this condition have a mottled appearance of their skin (ie., darker and lighter colored spots of skin). Their skin may seem to age more quickly and bruise easily. EB simplex with mottled pigmentation is caused by a genetic change in the keratin-5 gene (KRT5) and is inherited in an autosomal dominant fashion.","Curated_Disease_Description_Source__c":"GARD:0009737","GARD_Synonym__c":"ebs with mottled pigmentation; ebs-mp; ebs2f; epidermolysis bullosa simplex 2f, with mottled pigmentation; simple epidermolysis bullosa with mottled pigmentation; speckled hyperpigmentation with punctate palmoplantar keratoses and childhood blistering","Name":"Epidermolysis bullosa simplex with mottled pigmentation","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"DEBRA of America","Website__c":"https://www.debra.org/"},{"Account_Name__c":"DEBRA International","Website__c":"https://www.debra-international.org/"},{"Account_Name__c":"Epidermolysis Bullosa Medical Research Foundation","Website__c":"https://ebmrf.org/"},{"Account_Name__c":"EB Research Partnership","Website__c":"https://www.ebresearch.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:79397"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:79397"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0432316"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0009737","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK1369","Source__c":"Gene Review","Xref__c":"NBK1369"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=254180002","Source__c":"C0432316; MONDO:0007556","Xref__c":"254180002"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0111346","Source__c":"MONDO:0007556","Xref__c":"DOID:0111346"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0432316","Source__c":"C0432316","Xref__c":"C0432316"},{"URL__c":"https://www.orpha.net/en/disease/detail/79397","Source__c":"C0432316; MONDO:0007556; ORPHA:79397","Xref__c":"ORPHA:79397"},{"URL__c":"https://www.omim.org/entry/131960","Source__c":"C0432316; MONDO:0007556; ORPHA:79397","Xref__c":"OMIM:131960"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=140934","Source__c":"C0432316","Xref__c":"MEDGEN:140934"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C535959","Source__c":"MONDO:0007556","Xref__c":"C535959"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0007556","Source__c":"GARD:0009737","Xref__c":"MONDO:0007556"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"KRT5","GHR_URL__c":"https://medlineplus.gov/genetics/gene/krt5","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:79397","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005590","HPO_Synonym__c":"Patchy depigmentation; Patchy hypopigmentation; Spotty decreased pigmentation","HPO_Name__c":"Spotty hypopigmentation","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79397","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Patchy and irregular skin pigmentation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001070","HPO_Synonym__c":"Mottled skin coloring","HPO_Name__c":"Mottled pigmentation","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79397","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Hyperkeratosis affecting the sole of the foot.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007556","HPO_Synonym__c":"Plantar hyperkeratoses","HPO_Name__c":"Plantar hyperkeratosis","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79397","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The formation of bullae (blisters) with cleavage in the lamina lucida layer of the skin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003341","HPO_Synonym__c":"Blistering with junctional split; Junctional split; Subepidermal blistering with cleavage in the lamina lucida","HPO_Name__c":"Lamina lucida cleavage","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79397","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009123","HPO_Name__c":"Mixed hypo- and hyperpigmentation of the skin","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79397","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007427","HPO_Name__c":"Reticulated skin pigmentation","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79397","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:79397","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Abnormal thickening of the skin localized to the palm of the hand.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010765","HPO_Name__c":"Palmar hyperkeratosis","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79397","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007585","HPO_Name__c":"Skin fragility with non-scarring blistering","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79397","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An increased sensitivity of the skin to light. Photosensitivity may result in a rash upon exposure to the sun (which is known as photodermatosis). Photosensitivity can be diagnosed by phototests in which light is shone on small areas of skin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000992","HPO_Synonym__c":"Photosensitive skin; Photosensitive skin rashes; Photosensitivity; Sensitivity to sunlight; Skin photosensitivity; Sun sensitivity","HPO_Name__c":"Cutaneous photosensitivity","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79397","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Blisters arising in the mouth.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0200097","HPO_Synonym__c":"Blebs of oral mucosa; Blisters of mouth; Bullae of oral mucosa; Oral blistering; Oral mucosal blisters","HPO_Name__c":"Oral mucosal blisters","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79397","HPO_Frequency__c":"Very frequent (80-99%)","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:79397","HPO_Frequency__c":"Frequent (30-79%)","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":"ORPHA:79397","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Hypomelanotic macules (\\\"ash leaf spots\\\") are white or lighter patches of skin that may appear anywhere on the body and are caused by a lack of melanin. White ash leaf-shaped macules are considered to be characteristic of tuberous sclerosis.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009719","HPO_Synonym__c":"Hypomelanotic macules","HPO_Name__c":"Hypomelanotic macule","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79397","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The presence of developmental dysplasia of the nail.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002164","HPO_Synonym__c":"Atypical nail growth; Dysplastic nails; Onychodysplasia","HPO_Name__c":"Nail dysplasia","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79397","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A hyperpigmented circumscribed area of change in normal skin color without elevation or depression of any size.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001034","HPO_Synonym__c":"Hyperpigmented macules; Hyperpigmented spots","HPO_Name__c":"Hypermelanotic macule","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79397","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A noncongenital process of hair loss, which may progress to partial or complete baldness.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001596","HPO_Synonym__c":"Hair loss","HPO_Name__c":"Alopecia","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79397","HPO_Frequency__c":"Frequent (30-79%)","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:79397","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Presence of multiple small cysts containing keratin (skin protein) and presenting as tiny pearly-white bumps just under the surface of the skin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001056","HPO_Synonym__c":"Milk spot; Millium cyst","HPO_Name__c":"Milia","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Dermatology"],"Specialist":["Genetics","Dermatology","Pediatrics"],"Account":["Dermatology"]},"synonyms":["ebs with mottled pigmentation"," ebs-mp"," ebs2f"," epidermolysis bullosa simplex 2f, with mottled pigmentation"," simple epidermolysis bullosa with mottled pigmentation"," speckled hyperpigmentation with punctate palmoplantar keratoses and childhood blistering"]}