{"Name":"Arrhythmogenic cardiomyopathy with wooly hair and keratoderma","DiseaseID__c":"GARD:0005595","id":5595,"encodedName":"arrhythmogenic-cardiomyopathy-with-wooly-hair-and-keratoderma","IsDeleted":false,"Disease_Name_Full__c":"Arrhythmogenic cardiomyopathy with wooly hair and keratoderma","Xref_IDs__c":"719835006; C1854063; C535581; DOID:0090128; MEDGEN:340124; MONDO:0011581; OMIM:605676; ORPHA:65282","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":5,"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":4,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":3,"Description_Source__c":"MONDO:0011581","Disease_Description__c":"A cardioectodermal syndrome that is often associated with the gene DSP, encoding desmoplakin. Desmoplakin is a member of the plakin family of cell adhesion molecules that are responsible for the formation and maintenance of desmosomes. Variation in DSP is associated with cardiomyopathic manifestations that include: (1) seemingly isolated arrhythmogenic right ventricle cardiomyopathy (ARVC) that is atypical and can show left ventricle dominance, or be present in the left and right ventricle simultaneously; and (2) dilated cardiomyopathy. Cutaneous phenotypes including wooly hair and/or keratoderma can present along with the cardiomyopathy, but are noted as less penetrant features.","GARD_Name__c":"Arrhythmogenic cardiomyopathy with wooly hair and keratoderma","GARD_Synonym__c":"arrhythmogenic cardiomyopathy with woolly hair and keratoderma; carvajal syndrome; dcwhk; dilated cardiomyopathy with woolly hair and keratoderma; dilated cardiomyopathy with wooly hair and keratoderma; keratoderma with woolly hair type ii; keratoderma with wooly hair type ii; kwwh type ii; palmoplantar keratoderma with left ventricular cardiomyopathy and woolly hair; palmoplantar keratoderma with left ventricular cardiomyopathy and wooly hair; woolly hair-palmoplantar hyperkeratosis-dilated cardiomyopathy syndrome; woolly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome; wooly hair and palmoplantar keratoderma with dilated cardiomyopathy syndrome; wooly hair-palmoplantar hyperkeratosis-dilated cardiomyopathy syndrome; wooly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome","Curated_Disease_Description_Source__c":"MONDO:0011581","Curated_Disease_Description__c":"Keratoderma with woolly hair is a group of related conditions that affect the skin and hair and in many cases increase the risk of potentially life-threatening heart problems. People with these conditions have hair that is unusually coarse, dry, fine, and tightly curled. In some cases, the hair is also sparse. The woolly hair texture typically affects only scalp hair and is present from birth. Starting early in life, affected individuals also develop palmoplantar keratoderma, a condition that causes skin on the palms of the hands and the soles of the feet to become thick, scaly, and calloused. Cardiomyopathy, which is a disease of the heart muscle, is a life-threatening health problem that can develop in people with keratoderma with woolly hair. Unlike the other features of this condition, signs and symptoms of cardiomyopathy may not appear until adolescence or later. Complications of cardiomyopathy can include an abnormal heartbeat (arrhythmia), heart failure, and sudden death. Keratoderma with woolly hair comprises several related conditions with overlapping signs and symptoms. Researchers have recently proposed classifying keratoderma with woolly hair into four types, based on the underlying genetic cause. Type I, also known as Naxos disease, is characterized by palmoplantar keratoderma, woolly hair, and a form of cardiomyopathy called arrhythmogenic right ventricular cardiomyopathy (ARVC). Type II, also known as Carvajal syndrome, has hair and skin abnormalities similar to type I but features a different form of cardiomyopathy, called dilated left ventricular cardiomyopathy. Type III also has signs and symptoms similar to those of type I, including ARVC, although the hair and skin abnormalities are often milder. Type IV is characterized by palmoplantar keratoderma and woolly and sparse hair, as well as abnormal fingernails and toenails. Type IV does not appear to cause cardiomyopathy.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"from Birth to Childhood","SourceID__c":"ORPHA:65282","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0011581","ORPHANET_ID__c":"ORPHA:65282","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de carvajal","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"síndrome de carvajal","Spanish_GARD_Synonym__c":"kwwh tipo ii; queratodermia con cabello lanoso tipo ii; síndrome de cabello lanoso-hiperqueratosis palmoplantar-miocardiopatía dilatada; síndrome de cabello lanoso-queratodermia palmoplantar-miocardiopatía dilatada","Category_Linearization__c":"ORPHA:97929","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":"Keratoderma with woolly hair is a group of related conditions that affect the skin and hair and in many cases increase the risk of potentially life-threatening heart problems. People with these conditions have hair that is unusually coarse, dry, fine, and tightly curled. In some cases, the hair is also sparse. The woolly hair texture typically affects only scalp hair and is present from birth. Starting early in life, affected individuals also develop palmoplantar keratoderma, a condition that causes skin on the palms of the hands and the soles of the feet to become thick, scaly, and calloused. Cardiomyopathy, which is a disease of the heart muscle, is a life-threatening health problem that can develop in people with keratoderma with woolly hair. Unlike the other features of this condition, signs and symptoms of cardiomyopathy may not appear until adolescence or later. Complications of cardiomyopathy can include an abnormal heartbeat (arrhythmia), heart failure, and sudden death. Keratoderma with woolly hair comprises several related conditions with overlapping signs and symptoms. Researchers have recently proposed classifying keratoderma with woolly hair into four types, based on the underlying genetic cause. Type I, also known as Naxos disease, is characterized by palmoplantar keratoderma, woolly hair, and a form of cardiomyopathy called arrhythmogenic right ventricular cardiomyopathy (ARVC). Type II, also known as Carvajal syndrome, has hair and skin abnormalities similar to type I but features a different form of cardiomyopathy, called dilated left ventricular cardiomyopathy. Type III also has signs and symptoms similar to those of type I, including ARVC, although the hair and skin abnormalities are often milder. Type IV is characterized by palmoplantar keratoderma and woolly and sparse hair, as well as abnormal fingernails and toenails. Type IV does not appear to cause cardiomyopathy.","Curated_Disease_Description_Source__c":"MONDO:0011581","GARD_Synonym__c":"arrhythmogenic cardiomyopathy with woolly hair and keratoderma; carvajal syndrome; dcwhk; dilated cardiomyopathy with woolly hair and keratoderma; dilated cardiomyopathy with wooly hair and keratoderma; keratoderma with woolly hair type ii; keratoderma with wooly hair type ii; kwwh type ii; palmoplantar keratoderma with left ventricular cardiomyopathy and woolly hair; palmoplantar keratoderma with left ventricular cardiomyopathy and wooly hair; woolly hair-palmoplantar hyperkeratosis-dilated cardiomyopathy syndrome; woolly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome; wooly hair and palmoplantar keratoderma with dilated cardiomyopathy syndrome; wooly hair-palmoplantar hyperkeratosis-dilated cardiomyopathy syndrome; wooly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome","Name":"Arrhythmogenic cardiomyopathy with wooly hair and keratoderma","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"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":"Cardiology","Tag_Category__c":"Specialist"},{"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":"Odontology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Cardiomyopathy","Tag_Category__c":"Account","curated_tag_name":"Cardiomyopathy"},{"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:65282"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:65282"},{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:65282"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C1854063"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0005595","Source__c":"RareSource"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=719835006","Source__c":"C1854063; MONDO:0011581","Xref__c":"719835006"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1854063","Source__c":"C1854063","Xref__c":"C1854063"},{"URL__c":"https://www.orpha.net/en/disease/detail/65282","Source__c":"C1854063; MONDO:0011581; ORPHA:65282","Xref__c":"ORPHA:65282"},{"URL__c":"https://www.omim.org/entry/605676","Source__c":"C1854063; MONDO:0011581; ORPHA:65282","Xref__c":"OMIM:605676"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C535581","Source__c":"MONDO:0011581","Xref__c":"C535581"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0090128","Source__c":"MONDO:0011581","Xref__c":"DOID:0090128"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=340124","Source__c":"C1854063","Xref__c":"MEDGEN:340124"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0011581","Source__c":"GARD:0005595","Xref__c":"MONDO:0011581"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"DSP","GHR_URL__c":"https://medlineplus.gov/genetics/gene/dsp","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant","Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:65282","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A focal type of palmoplantar keratoderma in which only certain areas of the palms and soles are affected.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005588","HPO_Synonym__c":"Palmoplantar keratoderma, patchy; Patchy palmoplantar keratoderma","HPO_Name__c":"Patchy palmoplantar hyperkeratosis","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:65282","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Dilated cardiomyopathy (DCM) is defined by the presence of left ventricular dilatation and left ventricular systolic dysfunction in the absence of abnormal loading conditions (hypertension, valve disease) or coronary artery disease sufficient to cause global systolic impairment. Right ventricular dilation and dysfunction may be present but are not necessary for the diagnosis.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001644","HPO_Synonym__c":"Cardiomyopathy, dilated; Congestive cardiomyopathy; DCM; Stretched and thinned heart muscle","HPO_Name__c":"Dilated cardiomyopathy","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:65282","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The presence of an abnormality of cardiac function that is responsible for the failure of the heart to pump blood at a rate that is commensurate with the needs of the tissues or a state in which abnormally elevated filling pressures are required for the heart to do so. Heart failure is frequently related to a defect in myocardial contraction.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001635","HPO_Synonym__c":"Cardiac failure; Cardiac failures; Cardiac insufficiency; CHF; Chronic heart failure; Heart failure","HPO_Name__c":"Congestive heart failure","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:65282","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The term wooly hair refers to an abnormal variant of hair that is fine, with tightly coiled curls, and often hypopigmented. Optical microscopy may reveal the presence of tight spirals and a clear diameter reduction as compared with normal hair. Electron microscopy may show flat, oval hair shafts with reduced transversal diameter.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002224","HPO_Synonym__c":"Kinked hair; Wooly hair","HPO_Name__c":"Woolly hair","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Dermatology","Congenital Abnormality"],"Specialist":["Genetics","Cardiology","Dermatology","Odontology","Pediatrics"],"Account":["Dermatology","Cardiomyopathy","Ectodermal dysplasia"]},"synonyms":["arrhythmogenic cardiomyopathy with woolly hair and keratoderma"," carvajal syndrome"," dcwhk"," dilated cardiomyopathy with woolly hair and keratoderma"," dilated cardiomyopathy with wooly hair and keratoderma"," keratoderma with woolly hair type ii"," keratoderma with wooly hair type ii"," kwwh type ii"," palmoplantar keratoderma with left ventricular cardiomyopathy and woolly hair"," palmoplantar keratoderma with left ventricular cardiomyopathy and wooly hair"," woolly hair-palmoplantar hyperkeratosis-dilated cardiomyopathy syndrome"," woolly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome"," wooly hair and palmoplantar keratoderma with dilated cardiomyopathy syndrome"," wooly hair-palmoplantar hyperkeratosis-dilated cardiomyopathy syndrome"," wooly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome"]}