{"Name":"Naxos disease","DiseaseID__c":"GARD:0009795","id":9795,"encodedName":"naxos-disease","IsDeleted":false,"Disease_Name_Full__c":"Naxos disease","Xref_IDs__c":"715535009; C1832600; C206112; C538346; DOID:0080551; MEDGEN:321991; MONDO:0011017; OMIM:601214; ORPHA:34217","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":4,"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:0011017","Disease_Description__c":"A rare arrhythmogenic right ventricular cardiomyopathy (ARVC) and a cutaneous phenotype, characterized by peculiar woolly hair and palmoplantar keratoderma.","GARD_Name__c":"Naxos disease","GARD_Synonym__c":"arrhythmogenic right ventricular dysplasia/cardiomyopathy, autosomal dominant; cardiomyopathy, arrhythmogenic right ventricular, with skin, hair, and nail abnormalities; keratoderma with woolly hair type i; keratoderma with wooly hair type i; keratosis palmoplantaris and arrhythmogenic cardiomyopathy syndrome; keratosis palmoplantaris with arrhythmogenic cardiomyopathy; keratosis palmoplantaris with arrythmogenic cardiomyopathy; kwwh type i; mal de naxos; nxd; palmoplantar hyperkeratosis with arrhythmogenic cardiomyopathy; palmoplantar hyperkeratosis with arrythmogenic cardiomyopathy; palmoplantar keratoderma with arrhythmogenic right ventricular cardiomyopathy and woolly hair; palmoplantar keratoderma with arrythmogenic cardiomyopathy; woolly hair, palmoplantar keratoderma, and cardiac abnormalities","Curated_Disease_Description_Source__c":"MONDO:0011017","Curated_Disease_Description__c":"A rare arrhythmogenic right ventricular cardiomyopathy (ARVC) and a cutaneous phenotype, characterized by peculiar woolly hair and palmoplantar keratoderma.","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:34217","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0011017","ORPHANET_ID__c":"ORPHA:34217","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Enfermedad de naxos","Spanish_Description_Source__c":"ORPHA:34217","Spanish_Description__c":"Es una miocardiopatía arritmogénica del ventrículo derecho (MAVD) poco frecuente y con fenotipo cutáneo, caracterizado por pelo lanoso peculiar y queratodermia palmoplantar.","Spanish_Disease_Name__c":"enfermedad de naxos","Spanish_GARD_Synonym__c":"hiperqueratosis palmoplantar con miocardiopatía arritmogénica; queratodermia con cabello lanoso tipo i; queratodermia palmoplantar con miocardiopatía arritmogénica; queratosis palmoplantar con miocardiopatía arritmogénica; síndrome de naxos","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":"A rare arrhythmogenic right ventricular cardiomyopathy (ARVC) and a cutaneous phenotype, characterized by peculiar woolly hair and palmoplantar keratoderma.","Curated_Disease_Description_Source__c":"MONDO:0011017","GARD_Synonym__c":"arrhythmogenic right ventricular dysplasia/cardiomyopathy, autosomal dominant; cardiomyopathy, arrhythmogenic right ventricular, with skin, hair, and nail abnormalities; keratoderma with woolly hair type i; keratoderma with wooly hair type i; keratosis palmoplantaris and arrhythmogenic cardiomyopathy syndrome; keratosis palmoplantaris with arrhythmogenic cardiomyopathy; keratosis palmoplantaris with arrythmogenic cardiomyopathy; kwwh type i; mal de naxos; nxd; palmoplantar hyperkeratosis with arrhythmogenic cardiomyopathy; palmoplantar hyperkeratosis with arrythmogenic cardiomyopathy; palmoplantar keratoderma with arrhythmogenic right ventricular cardiomyopathy and woolly hair; palmoplantar keratoderma with arrythmogenic cardiomyopathy; woolly hair, palmoplantar keratoderma, and cardiac abnormalities","Name":"Naxos disease","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"SADS Foundation","Website__c":"https://www.sads.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":"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":"Cardiomyopathy","Tag_Category__c":"Account","curated_tag_name":"Cardiomyopathy"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:34217"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:34217"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C1832600"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0009795","Source__c":"RareSource"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=715535009","Source__c":"C1832600; MONDO:0011017","Xref__c":"715535009"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1832600","Source__c":"C1832600","Xref__c":"C1832600"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C538346","Source__c":"MONDO:0011017","Xref__c":"C538346"},{"URL__c":"https://www.omim.org/entry/601214","Source__c":"C1832600; MONDO:0011017; ORPHA:34217","Xref__c":"OMIM:601214"},{"URL__c":"https://www.orpha.net/en/disease/detail/34217","Source__c":"C1832600; MONDO:0011017; ORPHA:34217","Xref__c":"ORPHA:34217"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=321991","Source__c":"C1832600","Xref__c":"MEDGEN:321991"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0080551","Source__c":"MONDO:0011017","Xref__c":"DOID:0080551"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0011017","Source__c":"GARD:0009795","Xref__c":"MONDO:0011017"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C206112","Source__c":"C1832600","Xref__c":"C206112"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"JUP","GHR_URL__c":"https://medlineplus.gov/genetics/gene/jup","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:34217","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A gap or groove in the upper lip. This is a congenital defect resulting from nonfusion of tissues of the lip during embryonal development.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000204","HPO_Synonym__c":"Cheiloschisis of upper lip; Cleft upper lip; Harelip","HPO_Name__c":"Cleft upper lip","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:34217","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality of the texture of the hair.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010719","HPO_Synonym__c":"Abnormality of hair texture","HPO_Name__c":"Abnormality of hair texture","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:34217","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:34217","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The heart suddenly and unexpectedly stops beating resulting in death within a short time period (generally within 1 h of symptom onset).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001645","HPO_Synonym__c":"Premature sudden cardiac death; Sudden cardiac death","HPO_Name__c":"Sudden cardiac death","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:34217","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"}},{"Provided_By__c":"ORPHA:34217","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormal sensation of spinning while the body is actually stationary.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002321","HPO_Synonym__c":"Dizzy spell","HPO_Name__c":"Vertigo","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:34217","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A myocardial disorder in which the heart muscle is structurally and functionally abnormal, in the absence of coronary artery disease, hypertension, valvular disease and congenital heart disease sufficient to cause the observed myocardial abnormality.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001638","HPO_Synonym__c":"Disease of the heart muscle","HPO_Name__c":"Cardiomyopathy","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:34217","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Episodes of ventricular tachycardia that have a sudden onset and ending.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004751","HPO_Synonym__c":"Episodes of ventricular tachycardia","HPO_Name__c":"Paroxysmal ventricular tachycardia","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:34217","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Decreased number of hairs per unit area of skin of the scalp.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002209","HPO_Synonym__c":"Decreased number of scalp follicles; Hypotrichosis on scalp; Reduced amount of scalp hair; Reduced/lack of hair on scalp; Reduction in the number of scalp follicles; Scalp hypotrichosis; Sparse scalp hair; Thinning scalp hair","HPO_Name__c":"Sparse scalp hair","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:34217","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:34217","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002212","HPO_Synonym__c":"Curly hair","HPO_Name__c":"Curly hair","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:34217","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A dermatosis characterized by thickened, hyperpigmented plaques, typically on the intertriginous surfaces and neck.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000956","HPO_Synonym__c":"Darkened and thickened skin; Keratosis nigricans","HPO_Name__c":"Acanthosis nigricans","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:34217","HPO_Frequency__c":"Frequent (30-79%)","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:34217","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Any cardiac rhythm other than the normal sinus rhythm. Such a rhythm may be either of sinus or ectopic origin and either regular or irregular. An arrhythmia may be due to a disturbance in impulse formation or conduction or both.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011675","HPO_Synonym__c":"Abnormal heart rate; Arrhythmias; Cardiac arrhythmia; Cardiac arrhythmias; Cardiac rhythm disturbances; Heart rhythm disorders; Irregular heart beat; Irregular heartbeat","HPO_Name__c":"Arrhythmia","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Dermatology"],"Specialist":["Genetics","Cardiology","Dermatology","Pediatrics"],"Account":["Dermatology","Cardiomyopathy"]},"synonyms":["arrhythmogenic right ventricular dysplasia/cardiomyopathy, autosomal dominant"," cardiomyopathy, arrhythmogenic right ventricular, with skin, hair, and nail abnormalities"," keratoderma with woolly hair type i"," keratoderma with wooly hair type i"," keratosis palmoplantaris and arrhythmogenic cardiomyopathy syndrome"," keratosis palmoplantaris with arrhythmogenic cardiomyopathy"," keratosis palmoplantaris with arrythmogenic cardiomyopathy"," kwwh type i"," mal de naxos"," nxd"," palmoplantar hyperkeratosis with arrhythmogenic cardiomyopathy"," palmoplantar hyperkeratosis with arrythmogenic cardiomyopathy"," palmoplantar keratoderma with arrhythmogenic right ventricular cardiomyopathy and woolly hair"," palmoplantar keratoderma with arrythmogenic cardiomyopathy"," woolly hair, palmoplantar keratoderma, and cardiac abnormalities"]}