{"Name":"Acroerythrokeratoderma","DiseaseID__c":"GARD:0000092","id":92,"encodedName":"acroerythrokeratoderma","IsDeleted":false,"Disease_Name_Full__c":"Acroerythrokeratoderma","Xref_IDs__c":"239069005; C0025221; DOID:0060862; MEDGEN:7522; MONDO:0009552; OMIM:248300; ORPHA:87503","USA_Estimate__c":"50,000","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":"80,000 to 800,000","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:0009552","Disease_Description__c":"A rare diffuse palmoplantar keratoderma characterized by symmetric palmoplantar hyperkeratosis that progressively extends to the dorsal surfaces of hands and feet (transgrediens). The disease can be associated to hyperhidrosis, lichenoid plaques and perioral erythema.","GARD_Name__c":"Acroerythrokeratoderma","GARD_Synonym__c":"keratosis palmoplantaris transgrediens of siemens; mal de meleda; mdm; meleda disease; palmoplantar keratoderma, gamborg nielsen type; palmoplantar keratoderma, norrbotten recessive type; transgrediens palmoplantar keratoderma of siemens","Curated_Disease_Description_Source__c":"MONDO:0009552","Curated_Disease_Description__c":"Mal de Meleda is a rare skin disorder that begins in early infancy. Affected individuals have a condition known as palmoplantar keratoderma, in which the skin of the palms of the hands and soles of the feet becomes thick, hard, and callused. In mal de Meleda, the thickened skin is also found on the back of the hands and feet and on the wrists and ankles. In addition, affected individuals may have rough, thick pads on the joints of the fingers and toes and on the elbows and knees. Some people with mal de Meleda have recurrent fungal infections in the thickened skin, which can lead to a strong odor. Other features of this disorder can include short fingers and toes (brachydactyly), nail abnormalities, red skin around the mouth, and excessive sweating (hyperhidrosis).","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"50,000","Age_at_Onset_Snippet_Text__c":"as an Infant and as a Child","SourceID__c":"ORPHA:87503","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0009552","ORPHANET_ID__c":"ORPHA:87503","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Mal de meleda","Spanish_Description_Source__c":"ORPHA:87503","Spanish_Description__c":"Es una queratodermia palmoplantar difusa poco frecuente caracterizada por hiperqueratosis palmoplantar simétrica que se extiende progresivamente a las superficies dorsales de manos y pies (transgrediens). La enfermedad puede asociarse a hiperhidrosis, placas liquenoides y eritema perioral.","Spanish_Disease_Name__c":"mal de meleda","Spanish_GARD_Synonym__c":"enfermedad de meleda","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":"Mal de Meleda is a rare skin disorder that begins in early infancy. Affected individuals have a condition known as palmoplantar keratoderma, in which the skin of the palms of the hands and soles of the feet becomes thick, hard, and callused. In mal de Meleda, the thickened skin is also found on the back of the hands and feet and on the wrists and ankles. In addition, affected individuals may have rough, thick pads on the joints of the fingers and toes and on the elbows and knees. Some people with mal de Meleda have recurrent fungal infections in the thickened skin, which can lead to a strong odor. Other features of this disorder can include short fingers and toes (brachydactyly), nail abnormalities, red skin around the mouth, and excessive sweating (hyperhidrosis).","Curated_Disease_Description_Source__c":"MONDO:0009552","GARD_Synonym__c":"keratosis palmoplantaris transgrediens of siemens; mal de meleda; mdm; meleda disease; palmoplantar keratoderma, gamborg nielsen type; palmoplantar keratoderma, norrbotten recessive type; transgrediens palmoplantar keratoderma of siemens","Name":"Acroerythrokeratoderma","Curated_USA_Estimate__c":"50,000","estimateUsa":"50,000"}],"Organization_Supported_Diseases__c":[{"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":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:87503"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:87503"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0025221"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0000092","Source__c":"RareSource"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0060862","Source__c":"MONDO:0009552","Xref__c":"DOID:0060862"},{"URL__c":"https://www.omim.org/entry/248300","Source__c":"C0025221; MONDO:0009552; ORPHA:87503","Xref__c":"OMIM:248300"},{"URL__c":"https://www.orpha.net/en/disease/detail/87503","Source__c":"C0025221; MONDO:0009552; ORPHA:87503","Xref__c":"ORPHA:87503"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=7522","Source__c":"C0025221","Xref__c":"MEDGEN:7522"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=239069005","Source__c":"C0025221; MONDO:0009552","Xref__c":"239069005"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0025221","Source__c":"C0025221","Xref__c":"C0025221"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0009552","Source__c":"GARD:0000092","Xref__c":"MONDO:0009552"},{"URL__c":"https://medlineplus.gov/genetics/condition/mal-de-meleda","Source__c":"GARD:0000092","Xref__c":"https://medlineplus.gov/genetics/condition/mal-de-meleda"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"SLURP1","GHR_URL__c":"https://medlineplus.gov/genetics/gene/slurp1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:87503","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:87503","HPO_Frequency__c":"Occasional (5-29%)","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:87503","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Abnormal thickening of the skin on the palms and soles charactersized by hyperkeratosis of the stratum corneum with no evidence of epidermolysis characteristic of epidermolytic hyperkeratosis.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007404","HPO_Synonym__c":"Nonepidermolytic palmoplantar keratoderma","HPO_Name__c":"Nonepidermolytic palmoplantar hyperkeratosis","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:87503","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The presence of inflammation of the skin. That is, an abnormality of the skin resulting from the local accumulation of fluid, plasma proteins, and leukocytes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011123","HPO_Synonym__c":"Abnormal tendency to infections of the skin; Inflammatory abnormality of the skin; Skin inflammation","HPO_Name__c":"Inflammatory abnormality of the skin","Feature_System__c":"Skin System; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:87503","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Numerous lymphocytes surrounding blood vessels in the superficial part of the dermis.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0031190","HPO_Synonym__c":"Superficial perivascular inflammatory infiltrate","HPO_Name__c":"Superficial dermal perivascular inflammatory infiltrate","Feature_System__c":"Skin System; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:87503","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:87503","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality affecting one or both hands.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001155","HPO_Synonym__c":"Abnormal hands; Abnormality of the hand; Hand anomalies; Hand deformities","HPO_Name__c":"Abnormality of the hand","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:87503","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A flexion contracture is a bent (flexed) joint that cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement of joints.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001371","HPO_Synonym__c":"Flexed joint that cannot be straightened; Flexion contractures; Flexion contractures of joints","HPO_Name__c":"Flexion contracture","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:87503","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Auto-amputation is the spontaneous detachment of an appendage from the body due to long standing pathology.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001218","HPO_Name__c":"Autoamputation","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:87503","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Diffuse hypertrophy or thickening of the stratum spinosum of the epidermis (prickle cell layer of the skin).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025092","HPO_Synonym__c":"Acanthosis; Acanthotic epidermis; Thickening of upper layer of skin","HPO_Name__c":"Epidermal acanthosis","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:87503","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Abnormal excessive perspiration (sweating) despite the lack of appropriate stimuli like hot and humid weather.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000975","HPO_Synonym__c":"Diaphoresis; Excessive sweating; Increased sweating; Profuse sweating; Sweating; Sweating profusely; Sweating, increased","HPO_Name__c":"Hyperhidrosis","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:87503","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Multiple skin lesions resembling those characteristic of the disease lichen planus. These lesions are violaceous (reddish-purple), shiny, isolated, flat-topped papules and plaques.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0031452","HPO_Name__c":"Lichenoid skin lesion","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:87503","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality of the skeleton of foot.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001760","HPO_Synonym__c":"Abnormal feet structure; Abnormality of the feet; Abnormality of the foot; Foot deformities; Foot deformity","HPO_Name__c":"Abnormal foot morphology","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:87503","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007390","HPO_Name__c":"Hyperkeratosis with erythema","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:87503","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Diffuse abnormal thickening of the skin on the palms and soles.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007447","HPO_Synonym__c":"Diffuse palmoplantar keratoderma; Hyperkeratosis, diffuse palmoplantar","HPO_Name__c":"Diffuse palmoplantar hyperkeratosis","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Dermatology"],"Specialist":["Genetics","Dermatology","Pediatrics"],"Account":["Dermatology"]},"synonyms":["keratosis palmoplantaris transgrediens of siemens"," mal de meleda"," mdm"," meleda disease"," palmoplantar keratoderma, gamborg nielsen type"," palmoplantar keratoderma, norrbotten recessive type"," transgrediens palmoplantar keratoderma of siemens"]}