{"Name":"Acral peeling skin syndrome","DiseaseID__c":"GARD:0012863","id":12863,"encodedName":"acral-peeling-skin-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Acral peeling skin syndrome","Xref_IDs__c":"709416009; C1853354; C536316; DOID:0070521; MEDGEN:342862; MONDO:0012345; OMIM:609796; ORPHA:263534","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":4,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0012345","Disease_Description__c":"A rare peeling skin syndrome characterized by superficial peeling of the skin predominantly affecting the dorsa of the hands and feet.","GARD_Name__c":"Acral peeling skin syndrome","GARD_Synonym__c":"acral deciduous skin; acral pss; localised deciduous skin; localised pss; localized deciduous skin; localized pss; peeling skin syndrome 2; peeling skin syndrome type 2; peeling skin syndrome, acral type","Curated_Disease_Description_Source__c":"GARD:0012863","Curated_Disease_Description__c":"Peeling skin syndrome 2 is a skin disorder characterized by painless peeling of the top layer of skin. In this form of peeling skin syndrome, the peeling is most apparent on the hands and feet. Occasionally, peeling also occurs on the arms and legs. The peeling usually starts soon after  birth, although the condition can also begin in childhood or later in life.  Skin peeling is made worse by exposure to heat, humidity and other forms of moisture, and friction. The underlying skin may be temporarily red and itchy, but it typically heals without scarring. Peeling skin syndrome 2 is not associated with any other health problems.","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:263534","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0012345","ORPHANET_ID__c":"ORPHA:263534","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de descamación cutánea acral","Spanish_Description_Source__c":"ORPHA:263534","Spanish_Description__c":"Es un síndrome poco frecuente de descamación cutánea caracterizado por una descamación superficial de la piel que afecta predominantemente al dorso de las manos y de los pies.","Spanish_Disease_Name__c":"síndrome de descamación cutánea acral","Spanish_GARD_Synonym__c":"pss 2; pss acral; pss localizado; síndrome de descamación de la piel 2","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":"Peeling skin syndrome 2 is a skin disorder characterized by painless peeling of the top layer of skin. In this form of peeling skin syndrome, the peeling is most apparent on the hands and feet. Occasionally, peeling also occurs on the arms and legs. The peeling usually starts soon after  birth, although the condition can also begin in childhood or later in life.  Skin peeling is made worse by exposure to heat, humidity and other forms of moisture, and friction. The underlying skin may be temporarily red and itchy, but it typically heals without scarring. Peeling skin syndrome 2 is not associated with any other health problems.","Curated_Disease_Description_Source__c":"GARD:0012863","GARD_Synonym__c":"acral deciduous skin; acral pss; localised deciduous skin; localised pss; localized deciduous skin; localized pss; peeling skin syndrome 2; peeling skin syndrome type 2; peeling skin syndrome, acral type","Name":"Acral peeling skin syndrome","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"American Skin Association","Website__c":"https://www.americanskin.org/"},{"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":"Ichthyosis","Tag_Category__c":"Account","curated_tag_name":"Ichthyosis"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:263534"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:263534"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C1853354"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0012863","Source__c":"RareSource"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=709416009","Source__c":"C1853354; MONDO:0012345","Xref__c":"709416009"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=342862","Source__c":"C1853354","Xref__c":"MEDGEN:342862"},{"URL__c":"https://www.orpha.net/en/disease/detail/263534","Source__c":"C1853354; MONDO:0012345; ORPHA:263534","Xref__c":"ORPHA:263534"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1853354","Source__c":"C1853354","Xref__c":"C1853354"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0070521","Source__c":"MONDO:0012345","Xref__c":"DOID:0070521"},{"URL__c":"https://www.omim.org/entry/609796","Source__c":"C1853354; MONDO:0012345; ORPHA:263534","Xref__c":"OMIM:609796"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C536316","Source__c":"MONDO:0012345","Xref__c":"C536316"},{"URL__c":"https://medlineplus.gov/genetics/condition/peeling-skin-syndrome-2","Source__c":"GARD:0012863","Xref__c":"https://medlineplus.gov/genetics/condition/peeling-skin-syndrome-2"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0012345","Source__c":"GARD:0012863","Xref__c":"MONDO:0012345"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"TGM5","GHR_URL__c":"https://medlineplus.gov/genetics/gene/tgm5","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:263534","HPO_Frequency__c":"Frequent (30-79%)","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:263534","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007605","HPO_Synonym__c":"Redundant, wrinkled skin of palms","HPO_Name__c":"Excessive wrinkling of palmar skin","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:263534","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:263534","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Eczema is a form of dermatitis that is characterized by scaly, pruritic, erythematous lesions located on flexural surfaces.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000964","HPO_Synonym__c":"Eczema","HPO_Name__c":"Eczematoid dermatitis","Feature_System__c":"Skin System; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:263534","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormality of the skin characterized the presence of excessive amounts of dry surface scales on the skin resulting from an abnormality of keratinization.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008064","HPO_Synonym__c":"Ichthyosiform abnormality of the skin; Ichthyotic skin","HPO_Name__c":"Ichthyosis","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:263534","HPO_Frequency__c":"Occasional (5-29%)","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"}},{"Provided_By__c":"ORPHA:263534","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A darkening of the skin related to an increase in melanin production and deposition.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000953","HPO_Synonym__c":"Cutaneous hyperpigmentation; Hyperpigmented lesion; Increased skin pigmentation; Patchy darkened skin; Skin hyperpigmentation","HPO_Name__c":"Hyperpigmentation of the skin","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:263534","HPO_Frequency__c":"Occasional (5-29%)","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.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0200034","HPO_Synonym__c":"Papules","HPO_Name__c":"Papule","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:263534","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A discontinuity of the skin exhibiting incomplete loss of the epidermis, a lesion that is moist, circumscribed, and usually depressed.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0200041","HPO_Name__c":"Skin erosion","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:263534","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An allergy is an immune response or reaction to substances that are usually not harmful.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012393","HPO_Synonym__c":"Allergy","HPO_Name__c":"Allergy","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:263534","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Redness of the skin, caused by hyperemia of the capillaries in the lower layers of the skin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010783","HPO_Synonym__c":"Redness of skin or mucous membrane","HPO_Name__c":"Erythema","Feature_System__c":"Skin System; Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:263534","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A severe form of hypermetropia with over +5.00 diopters.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008499","HPO_Synonym__c":"High hyperopia; High-grade hypermetropia; Severe farsightedness; Severe long-sightedness","HPO_Name__c":"High hypermetropia","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Dermatology"],"Specialist":["Genetics","Dermatology","Pediatrics"],"Account":["Dermatology","Ichthyosis"]},"synonyms":["acral deciduous skin"," acral pss"," localised deciduous skin"," localised pss"," localized deciduous skin"," localized pss"," peeling skin syndrome 2"," peeling skin syndrome type 2"," peeling skin syndrome, acral type"]}