{"Name":"Ichthyosis hystrix of Curth-Macklin","DiseaseID__c":"GARD:0002954","id":2954,"encodedName":"ichthyosis-hystrix-of-curth-macklin","IsDeleted":false,"Disease_Name_Full__c":"Ichthyosis hystrix of Curth-Macklin","Xref_IDs__c":"254170001; C1840296; C536088; MEDGEN:326700; MONDO:0007808; OMIM:146590; ORPHA:79503","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":2,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0007808","Disease_Description__c":"Ichthyosis hystrix of Curth-Macklin (IHCM) is a rare type of keratinopathic ichthyosis (see this term) that is characterized by the presence of severe hyperkeratotic lesions and palmoplantar keratoderma (PPK, see this term).","GARD_Name__c":"Ichthyosis hystrix of Curth-Macklin","GARD_Synonym__c":"curth-macklin type ichthyosis hystrix; ichthyosis histrix, curth-macklin type; ichthyosis hystrix, curth macklin type; ichthyosis hystrix, curth-macklin type; ihcm","Curated_Disease_Description_Source__c":"MONDO:0007808","Curated_Disease_Description__c":"Ichthyosis hystrix of Curth-Macklin (IHCM) is a rare type of keratinopathic ichthyosis that is characterized by the presence of severe hyperkeratotic lesions and palmoplantar keratoderma (PPK).","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Child","SourceID__c":"ORPHA:79503","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0007808","ORPHANET_ID__c":"ORPHA:79503","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Ictiosis histrix de curth-macklin","Spanish_Description_Source__c":"ORPHA:79503","Spanish_Description__c":"La ictiosis histrix de Curth-Macklin (IHCM) es un tipo poco frecuente de ictiosis queratinopática (consulte este término), caracterizada por la presencia de lesiones hiperqueratóticas y queratodermia palmoplantar (PPK, consulte este término).","Spanish_Disease_Name__c":"ictiosis histrix de curth-macklin","Spanish_GARD_Synonym__c":"ictiosis histrix tipo curth-macklin","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":"Ichthyosis hystrix of Curth-Macklin (IHCM) is a rare type of keratinopathic ichthyosis that is characterized by the presence of severe hyperkeratotic lesions and palmoplantar keratoderma (PPK).","Curated_Disease_Description_Source__c":"MONDO:0007808","GARD_Synonym__c":"curth-macklin type ichthyosis hystrix; ichthyosis histrix, curth-macklin type; ichthyosis hystrix, curth macklin type; ichthyosis hystrix, curth-macklin type; ihcm","Name":"Ichthyosis hystrix of Curth-Macklin","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Foundation for Ichthyosis and Related Skin Types","Website__c":"https://www.firstskinfoundation.org/"},{"Account_Name__c":"Ichthyosis Support Group","Website__c":"https://www.ichthyosis.org.uk/"}],"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":"Childhood","Provided_By__c":"ORPHA:79503"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C1840296"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0002954","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C536088","Source__c":"MONDO:0007808","Xref__c":"C536088"},{"URL__c":"https://www.orpha.net/en/disease/detail/79503","Source__c":"C1840296; MONDO:0007808; ORPHA:79503","Xref__c":"ORPHA:79503"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=254170001","Source__c":"C1840296; MONDO:0007808","Xref__c":"254170001"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=326700","Source__c":"C1840296","Xref__c":"MEDGEN:326700"},{"URL__c":"https://www.omim.org/entry/146590","Source__c":"C1840296; MONDO:0007808; ORPHA:79503","Xref__c":"OMIM:146590"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1840296","Source__c":"C1840296","Xref__c":"C1840296"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0007808","Source__c":"GARD:0002954","Xref__c":"MONDO:0007808"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"KRT1","GHR_URL__c":"https://medlineplus.gov/genetics/gene/krt1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:79503","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Significant bleeding or hemorrhage without significant precipitating factor.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011889","HPO_Synonym__c":"Bleeding with minor or no trauma; Easy bleeding","HPO_Name__c":"Bleeding with minor or no trauma","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79503","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":"ORPHA:79503","HPO_Frequency__c":"Very frequent (80-99%)","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"}},{"Provided_By__c":"ORPHA:79503","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Infections of the skin that happen multiple times.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001581","HPO_Synonym__c":"Recurrent cutaneous infections; Recurrent skin infections; Skin infections, recurrent","HPO_Name__c":"Recurrent skin infections","Feature_System__c":"Skin System; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79503","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The spontaneous detachment of a digit (finger or toe) from the body due to long standing pathology.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007460","HPO_Name__c":"Autoamputation of digits","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79503","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:79503","HPO_Frequency__c":"Very frequent (80-99%)","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:79503","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"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Dermatology"],"Specialist":["Genetics","Dermatology","Pediatrics"],"Account":["Dermatology","Ichthyosis"]},"synonyms":["curth-macklin type ichthyosis hystrix"," ichthyosis histrix, curth-macklin type"," ichthyosis hystrix, curth macklin type"," ichthyosis hystrix, curth-macklin type"," ihcm"]}