{ "url": "https://dantelabs.com/genes/dsp", "gene": { "slug": "dsp", "symbol": "DSP", "name": "desmoplakin", "hgnc": "HGNC:3052", "summary": null, "location": "6p24.3", "locusType": "gene with protein product", "aliases": [ "KPPS2", "PPKS2", "DPI", "DPII", "DP" ], "previousSymbols": [], "ensemblId": "ENSG00000096696", "entrezId": 1832, "omim": [ "125647" ], "uniprot": [ "P15924" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "6", "start": 7541671, "end": 7586714, "strand": "+", "ensemblTranscript": "ENST00000379802.8", "refseqTranscript": "NM_004415.4", "ensemblProtein": "ENSP00000369129.3", "refseqProtein": "NP_004406.2", "exons": [ { "start": 7541671, "end": 7542085 }, { "start": 7555718, "end": 7555820 }, { "start": 7558116, "end": 7558264 }, { "start": 7559226, "end": 7559400 }, { "start": 7562652, "end": 7562780 }, { "start": 7563736, "end": 7563786 }, { "start": 7565359, "end": 7565520 }, { "start": 7566377, "end": 7566481 }, { "start": 7567354, "end": 7567449 }, { "start": 7567781, "end": 7567906 }, { "start": 7568437, "end": 7568589 }, { "start": 7569186, "end": 7569340 }, { "start": 7570437, "end": 7570563 }, { "start": 7571383, "end": 7571584 }, { "start": 7571842, "end": 7572068 }, { "start": 7574086, "end": 7574252 }, { "start": 7574657, "end": 7574795 }, { "start": 7575295, "end": 7575488 }, { "start": 7576294, "end": 7576456 }, { "start": 7576959, "end": 7577042 }, { "start": 7577779, "end": 7577886 }, { "start": 7578464, "end": 7578562 }, { "start": 7579275, "end": 7581569 }, { "start": 7582642, "end": 7586714 } ], "cds": { "start": 7541916, "end": 7585878 } }, "grch37": { "build": "GRCh37", "release": "87", "chrom": "6", "start": 7541808, "end": 7586950, "strand": "+" }, "neighbourhood": { "release": "116", "start": 7064193, "end": 8064192, "genes": [ { "symbol": "RREB1", "ensemblId": "ENSG00000124782", "biotype": "protein_coding", "start": 7107418, "end": 7251982, "strand": "+", "slug": "rreb1" }, { "symbol": "SSR1", "ensemblId": "ENSG00000124783", "biotype": "protein_coding", "start": 7268306, "end": 7347446, "strand": "-", "slug": "ssr1" }, { "symbol": "CAGE1", "ensemblId": "ENSG00000164304", "biotype": "protein_coding", "start": 7326656, "end": 7389742, "strand": "-", "slug": "cage1" }, { "symbol": "RIOK1", "ensemblId": "ENSG00000124784", "biotype": "protein_coding", "start": 7389462, "end": 7418037, "strand": "+", "slug": "riok1" }, { "symbol": "SNRNP48", "ensemblId": "ENSG00000168566", "biotype": "protein_coding", "start": 7590181, "end": 7612832, "strand": "+", "slug": "snrnp48" }, { "symbol": "BMP6", "ensemblId": "ENSG00000153162", "biotype": "protein_coding", "start": 7726049, "end": 7881730, "strand": "+", "slug": "bmp6" }, { "symbol": "TXNDC5", "ensemblId": "ENSG00000239264", "biotype": "protein_coding", "start": 7881440, "end": 7911011, "strand": "-", "slug": "txndc5" }, { "symbol": "BLOC1S5-TXNDC5", "ensemblId": "ENSG00000259040", "biotype": "protein_coding", "start": 7881522, "end": 8064364, "strand": "-", "slug": "bloc1s5-txndc5" }, { "symbol": "BLOC1S5", "ensemblId": "ENSG00000188428", "biotype": "protein_coding", "start": 8012317, "end": 8064419, "strand": "-", "slug": "bloc1s5" }, { "symbol": "EEF1E1-BLOC1S5", "ensemblId": "ENSG00000265818", "biotype": "protein_coding", "start": 8015726, "end": 8102530, "strand": "-", "slug": "eef1e1-bloc1s5" } ], "truncated": false }, "reports": [ { "slug": "arrhythmogenic-cardiomyopathy", "name": "Arrhythmogenic Cardiomyopathy", "diseases": [ { "mondoId": "MONDO:0014355", "name": "Dilated Cardiomyopathy with Woolly Hair, Keratoderma and Tooth Agenesis", "genes": 1, "inheritance": "autosomal-dominant", "description": "A condition caused by changes in DSP that combines dilated cardiomyopathy with woolly hair, thickened skin on the palms and soles, and missing teeth.", "management": "Knowing about it supports regular heart monitoring and arrhythmia assessment.", "evidence": { "gencc": [ "Genomics England PanelApp", "Labcorp Genetics (formerly Invitae)" ], "acmgSf": true, "inheritance": [ "autosomal-dominant" ], "actionability": 11 }, "sameAsReport": false, "broad": false }, { "mondoId": "MONDO:0100080", "name": "Cardioectodermal Syndromes (Naxos Disease and Carvajal Syndrome)", "genes": 2, "inheritance": null, "description": "A group of conditions caused by changes in JUP or DSP, including Naxos disease and Carvajal syndrome, that combine arrhythmogenic cardiomyopathy with woolly hair and thickened skin on the palms and soles.", "management": "Knowing about it supports regular heart monitoring and arrhythmia assessment.", "evidence": { "gencc": [ "ClinGen", "G2P", "Genomics England PanelApp", "Labcorp Genetics (formerly Invitae)" ], "clingen": "Definitive", "acmgSf": false, "inheritance": [ "autosomal-dominant", "autosomal-recessive" ] }, "sameAsReport": false, "broad": false }, { "mondoId": "MONDO:0016587", "name": "Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC)", "genes": 10, "inheritance": null, "description": "Progressive replacement of heart muscle by fat and scar tissue, mainly in the right ventricle, causing ventricular arrhythmias; usually caused by variants in the desmosome genes PKP2, DSP, DSG2, DSC2 and JUP, or in TMEM43, PLN or DES.", "management": "A diagnosis supports regular rhythm monitoring, advice on limiting endurance exercise, decisions about implantable defibrillators and testing of relatives.", "evidence": { "gencc": [ "G2P", "Labcorp Genetics (formerly Invitae)" ], "acmgSf": true, "inheritance": [ "autosomal-dominant", "autosomal-recessive" ], "actionability": 10 }, "sameAsReport": false, "broad": false } ], "url": "https://dantelabs.com/conditions/arrhythmogenic-cardiomyopathy" }, { "slug": "epidermolysis-bullosa", "name": "Epidermolysis Bullosa", "diseases": [ { "mondoId": "MONDO:0019276", "name": "Inherited epidermolysis bullosa", "genes": 19, "inheritance": null, "description": "All inherited forms of skin fragility with blistering, including simplex, junctional and dystrophic epidermolysis bullosa and Kindler syndrome.", "management": "Recessive dystrophic forms need regular skin cancer surveillance, and gene-based wound therapy is now available for dystrophic EB.", "evidence": { "gencc": [ "Genomics England PanelApp", "Labcorp Genetics (formerly Invitae)" ], "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": false, "broad": false } ], "url": "https://dantelabs.com/conditions/epidermolysis-bullosa" }, { "slug": "hereditary-palmoplantar-keratodermas", "name": "Hereditary Palmoplantar Keratodermas and Pachyonychia Congenita", "diseases": [ { "mondoId": "MONDO:0019272", "name": "Hereditary palmoplantar keratoderma", "genes": 35, "inheritance": null, "description": "Inherited thickening of the palms and soles, including pachyonychia congenita, mal de Meleda, Nagashima-type and Bothnian keratodermas, keratitis-ichthyosis-deafness syndrome, and the CTSC-related Papillon-Lefèvre and Haim-Munk syndromes.", "management": "Diagnosis guides foot care and pain management; for CTSC-related forms early dental treatment protects the teeth, and GJB2-related forms warrant a hearing check.", "evidence": { "gencc": [ "G2P", "Genomics England PanelApp" ], "acmgSf": false, "inheritance": [ "autosomal-dominant", "autosomal-recessive" ] }, "sameAsReport": false, "broad": false } ], "url": "https://dantelabs.com/conditions/hereditary-palmoplantar-keratodermas" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "abnormal-blistering-of-the-skin", "name": "Abnormal blistering of the skin", "systems": [ "abnormality-of-the-integument" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/abnormal-blistering-of-the-skin" }, { "slug": "abnormal-dermoepidermal-hemidesmosome-morphology", "name": "Abnormal dermoepidermal hemidesmosome morphology", "systems": [ "abnormality-of-the-integument" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/abnormal-dermoepidermal-hemidesmosome-morphology" }, { "slug": "abnormal-dermoepidermal-junction-morphology", "name": "Abnormal dermoepidermal junction morphology", "systems": [ "abnormality-of-the-integument" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/abnormal-dermoepidermal-junction-morphology" }, { "slug": "arrhythmia", "name": "Abnormal heart rate", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/arrhythmia" }, { "slug": "abnormal-helix-morphology", "name": "Abnormal helix morphology", "systems": [ "abnormality-of-the-ear" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/abnormal-helix-morphology" }, { "slug": "abnormal-pulmonary-interstitial-morphology", "name": "Abnormality in area between air sacs in lung", "systems": [ "abnormality-of-the-respiratory-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/abnormal-pulmonary-interstitial-morphology" }, { "slug": "abnormal-hair-morphology", "name": "Abnormality of the hair", "systems": [ "abnormality-of-the-integument" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/abnormal-hair-morphology" }, { "slug": "abnormal-nail-morphology", "name": "Abnormality of the nail", "systems": [ "abnormality-of-the-integument" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/abnormal-nail-morphology" }, { "slug": "abnormality-of-the-skeletal-system", "name": "Abnormality of the skeletal system", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/abnormality-of-the-skeletal-system" }, { "slug": "abnormal-pinna-morphology", "name": "Abnormally shaped ears", "systems": [ "abnormality-of-the-ear" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/abnormal-pinna-morphology" }, { "slug": "aplasia-cutis-congenita", "name": "Absence of part of skin at birth", "systems": [ "abnormality-of-the-integument" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/aplasia-cutis-congenita" }, { "slug": "absent-eyebrow", "name": "Absent eyebrow", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-integument" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/absent-eyebrow" }, { "slug": "absent-eyelashes", "name": "Absent eyelashes", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-integument" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/absent-eyelashes" }, { "slug": "absent-fingernail", "name": "Absent fingernail", "systems": [ "abnormality-of-the-integument" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/absent-fingernail" }, { "slug": "absent-hair", "name": "Absent hair", "systems": [ "abnormality-of-the-integument" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/absent-hair" }, { "slug": "anonychia", "name": "Absent nails", "systems": [ "abnormality-of-the-integument" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/anonychia" }, { "slug": "absent-toenail", "name": "Absent toenail", "systems": [ "abnormality-of-the-integument" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/absent-toenail" }, { "slug": "acantholysis", "name": "Acantholysis", "systems": [ "abnormality-of-the-integument" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/acantholysis" }, { "slug": "gastroesophageal-reflux", "name": "Acid reflux", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/gastroesophageal-reflux" }, { "slug": "woolly-hair", "name": "Afro-textured hair", "systems": [ "abnormality-of-the-integument" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/woolly-hair" }, { "slug": "alopecia-totalis", "name": "Alopecia totalis", "systems": [ "abnormality-of-the-integument" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/alopecia-totalis" }, { "slug": "alopecia-universalis", "name": "Alopecia universalis", "systems": [ "abnormality-of-the-integument" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/alopecia-universalis" }, { "slug": "natal-tooth", "name": "Born with teeth", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/natal-tooth" }, { "slug": "fragile-nails", "name": "Brittle nails", "systems": [ "abnormality-of-the-integument" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/fragile-nails" }, { "slug": "camptodactyly-of-toe", "name": "Camptodactyly of toe", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/camptodactyly-of-toe" }, { "slug": "congestive-heart-failure", "name": "Cardiac failure", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/congestive-heart-failure" }, { "slug": "cardiomyocyte-hypertrophy", "name": "Cardiomyocyte hypertrophy", "systems": [ "abnormal-cellular-phenotype", "abnormality-of-the-cardiovascular-system" ], "url": "https://dantelabs.com/traits/cardiomyocyte-hypertrophy" }, { "slug": "cleft-palate", "name": "Cleft palate", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/cleft-palate" }, { "slug": "clubbing-of-fingers", "name": "Clubbing of fingers", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/clubbing-of-fingers" }, { "slug": "congenital-alopecia-totalis", "name": "Congenital alopecia totalis", "systems": [ "abnormality-of-the-integument" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/congenital-alopecia-totalis" }, { "slug": "cough", "name": "Cough", "systems": [ "abnormality-of-the-respiratory-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/cough" }, { "slug": "crackles", "name": "Crackles", "systems": [ "abnormality-of-the-respiratory-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/crackles" }, { "slug": "clinodactyly-of-the-5th-finger", "name": "Curvature of little finger", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/clinodactyly-of-the-5th-finger" }, { "slug": "exercise-intolerance", "name": "Decreased ability to exercise", "systems": [ "constitutional-symptom" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/exercise-intolerance" }, { "slug": "decreased-dlco", "name": "Decreased DLCO", "systems": [ "abnormality-of-the-respiratory-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/decreased-dlco" }, { "slug": "tooth-agenesis", "name": "Decreased number of teeth", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/tooth-agenesis" }, { "slug": "cardiomyopathy", "name": "Disease of the heart muscle", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/cardiomyopathy" }, { "slug": "emg-abnormality", "name": "EMG abnormality", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/emg-abnormality" }, { "slug": "cardiomegaly", "name": "Enlarged heart", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/cardiomegaly" }, { "slug": "exertional-dyspnea", "name": "Exertional breathlessness", "systems": [ "abnormality-of-the-respiratory-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/exertional-dyspnea" }, { "slug": "premature-ventricular-contraction", "name": "Extra heart beat", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/premature-ventricular-contraction" }, { "slug": "syncope", "name": "Fainting spell", "systems": [ "abnormality-of-the-cardiovascular-system", "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/syncope" }, { "slug": "failure-to-thrive", "name": "Faltering weight", "systems": [ "growth-abnormality" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/failure-to-thrive" }, { "slug": "fatigue", "name": "Fatigue", "systems": [ "constitutional-symptom" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/fatigue" }, { "slug": "edema", "name": "Fluid retention", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/edema" }, { "slug": "fragile-skin", "name": "Fragile skin", "systems": [ "abnormality-of-the-integument" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/fragile-skin" }, { "slug": "sandal-gap", "name": "Gap between 1st and 2nd toes", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/sandal-gap" }, { "slug": "gingival-recession", "name": "Gingival recession", "systems": [ "abnormality-of-head-or-neck" ], "url": "https://dantelabs.com/traits/gingival-recession" }, { "slug": "ground-glass-opacification", "name": "Ground-glass opacification", "systems": [ "abnormality-of-the-respiratory-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/ground-glass-opacification" }, { "slug": "alopecia", "name": "Hair loss", "systems": [ "abnormality-of-the-integument" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/alopecia" }, { "slug": "honeycomb-lung", "name": "Honeycomb lung", "systems": [ "abnormality-of-the-respiratory-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/honeycomb-lung" }, { "slug": "hyperkeratosis", "name": "Hyperkeratosis", "systems": [ "abnormality-of-the-integument" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/hyperkeratosis" }, { "slug": "hypovolemic-shock", "name": "Hypovolemic shock", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/hypovolemic-shock" }, { "slug": "ichthyosis", "name": "Ichthyosis", "systems": [ "abnormality-of-the-integument" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/ichthyosis" }, { "slug": "impaired-myocardial-contractility", "name": "Impaired myocardial contractility", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/impaired-myocardial-contractility" }, { "slug": "pruritus", "name": "Itching", "systems": [ "abnormality-of-the-integument" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/pruritus" }, { "slug": "left-ventricular-systolic-dysfunction", "name": "Left ventricular systolic dysfunction", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/left-ventricular-systolic-dysfunction" }, { "slug": "lipoatrophy", "name": "Loss of fat tissue in localized area", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/lipoatrophy" }, { "slug": "oligohydramnios", "name": "Low levels of amniotic fluid", "systems": [ "abnormality-of-prenatal-development-or-birth" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/oligohydramnios" }, { "slug": "mitten-deformity", "name": "Mitten deformity", "systems": [ "abnormality-of-limbs" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/mitten-deformity" }, { "slug": "myopathy", "name": "Muscle tissue disease", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/myopathy" }, { "slug": "orthodeoxia", "name": "Orthodeoxia", "systems": [ "abnormality-of-the-respiratory-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/orthodeoxia" }, { "slug": "orthopnea", "name": "Orthopnea", "systems": [ "abnormality-of-the-respiratory-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/orthopnea" }, { "slug": "palmoplantar-erythema", "name": "Palmoplantar erythema", "systems": [ "abnormality-of-the-cardiovascular-system", "abnormality-of-the-integument" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/palmoplantar-erythema" }, { "slug": "palmoplantar-scaling-skin", "name": "Palmoplantar scaling skin", "systems": [ "abnormality-of-the-integument" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/palmoplantar-scaling-skin" }, { "slug": "parakeratosis", "name": "Parakeratosis", "systems": [ "abnormality-of-the-integument" ], "url": "https://dantelabs.com/traits/parakeratosis" }, { "slug": "patchy-palmoplantar-hyperkeratosis", "name": "Patchy palmoplantar hyperkeratosis", "systems": [ "abnormality-of-limbs", "abnormality-of-the-integument" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/patchy-palmoplantar-hyperkeratosis" }, { "slug": "bronchiectasis", "name": "Permanent enlargement of the airways of the lungs", "systems": [ "abnormality-of-the-respiratory-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/bronchiectasis" }, { "slug": "acrocyanosis", "name": "Persistent blue color of hands or feet", "systems": [ "abnormality-of-the-integument" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/acrocyanosis" }, { "slug": "nail-dystrophy", "name": "Poor nail formation", "systems": [ "abnormality-of-the-integument" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/nail-dystrophy" }, { "slug": "intrauterine-growth-retardation", "name": "Prenatal growth deficiency", "systems": [ "growth-abnormality" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/intrauterine-growth-retardation" }, { "slug": "pulmonary-fibrosis", "name": "Pulmonary scarring", "systems": [ "abnormality-of-the-respiratory-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/pulmonary-fibrosis" }, { "slug": "pulmonic-regurgitation", "name": "Pulmonic regurgitation", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/pulmonic-regurgitation" }, { "slug": "erythema", "name": "Redness of skin or mucous membrane", "systems": [ "abnormality-of-the-cardiovascular-system", "abnormality-of-the-integument" ], "url": "https://dantelabs.com/traits/erythema" }, { "slug": "reduced-forced-vital-capacity", "name": "Reduced forced vital capacity", "systems": [ "abnormality-of-the-respiratory-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/reduced-forced-vital-capacity" }, { "slug": "respiratory-failure", "name": "Respiratory failure", "systems": [ "abnormality-of-the-respiratory-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/respiratory-failure" }, { "slug": "reticular-pattern-on-pulmonary-hrct", "name": "Reticular pattern on pulmonary HRCT", "systems": [ "abnormality-of-the-respiratory-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/reticular-pattern-on-pulmonary-hrct" }, { "slug": "right-ventricular-cardiomyopathy", "name": "Right ventricular cardiomyopathy", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/right-ventricular-cardiomyopathy" }, { "slug": "sensorineural-hearing-impairment", "name": "Sensorineural hearing impairment", "systems": [ "abnormality-of-the-ear" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/sensorineural-hearing-impairment" }, { "slug": "skin-erosion", "name": "Skin erosion", "systems": [ "abnormality-of-the-integument" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/skin-erosion" }, { "slug": "sparse-eyebrow", "name": "Sparse eyebrow", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-integument" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/sparse-eyebrow" }, { "slug": "sparse-eyelashes", "name": "Sparse eyelashes", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-integument" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/sparse-eyelashes" }, { "slug": "dilated-cardiomyopathy", "name": "Stretched and thinned heart muscle", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/dilated-cardiomyopathy" }, { "slug": "subpleural-honeycombing", "name": "Subpleural honeycombing", "systems": [ "abnormality-of-the-respiratory-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/subpleural-honeycombing" }, { "slug": "sudden-cardiac-death", "name": "Sudden cardiac death", "systems": [ "abnormality-of-the-cardiovascular-system", "constitutional-symptom" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/sudden-cardiac-death" }, { "slug": "tapered-distal-phalanges-of-finger", "name": "Tapered outermost finger bone", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/tapered-distal-phalanges-of-finger" }, { "slug": "palmoplantar-keratoderma", "name": "Thickening of palms and soles", "systems": [ "abnormality-of-limbs", "abnormality-of-the-integument" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/palmoplantar-keratoderma" }, { "slug": "palmoplantar-hyperkeratosis", "name": "Thickening of the outer layer of the skin of the palms and soles", "systems": [ "abnormality-of-limbs", "abnormality-of-the-integument" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/palmoplantar-hyperkeratosis" }, { "slug": "epidermal-acanthosis", "name": "Thickening of upper layer of skin", "systems": [ "abnormality-of-the-integument" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/epidermal-acanthosis" }, { "slug": "thromboembolic-stroke", "name": "Thromboembolic stroke", "systems": [ "abnormality-of-blood-and-blood-forming-tissues" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/thromboembolic-stroke" }, { "slug": "usual-interstitial-pneumonia", "name": "Usual interstitial pneumonia", "systems": [ "abnormality-of-the-respiratory-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/usual-interstitial-pneumonia" }, { "slug": "ventricular-fibrillation", "name": "Ventricular fibrillation", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/ventricular-fibrillation" }, { "slug": "ventricular-tachycardia", "name": "Ventricular tachycardia", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/ventricular-tachycardia" }, { "slug": "2-3-finger-cutaneous-syndactyly", "name": "Webbed 2nd-3rd fingers", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/2-3-finger-cutaneous-syndactyly" }, { "slug": "3-4-finger-osseus-syndactyly", "name": "Webbed 3rd-4th fingers", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/3-4-finger-osseus-syndactyly" }, { "slug": "4-5-finger-cutaneous-syndactyly", "name": "Webbed 4th-5th finger", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/4-5-finger-cutaneous-syndactyly" }, { "slug": "syndactyly", "name": "Webbed fingers or toes", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/syndactyly" }, { "slug": "leukonychia", "name": "White discoloration of nails", "systems": [ "abnormality-of-the-integument" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/leukonychia" }, { "slug": "widely-spaced-toes", "name": "Widely spaced toes", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/widely-spaced-toes" } ], "related": [ { "slug": "jup", "symbol": "JUP", "name": "junction plakoglobin", "shared": 3, "url": "https://dantelabs.com/genes/jup" }, { "slug": "krt14", "symbol": "KRT14", "name": "keratin 14", "shared": 2, "url": "https://dantelabs.com/genes/krt14" }, { "slug": "aagab", "symbol": "AAGAB", "name": "alpha and gamma adaptin binding protein", "shared": 1, "url": "https://dantelabs.com/genes/aagab" }, { "slug": "ap1b1", "symbol": "AP1B1", "name": "adaptor related protein complex 1 subunit beta 1", "shared": 1, "url": "https://dantelabs.com/genes/ap1b1" }, { "slug": "aqp5", "symbol": "AQP5", "name": "aquaporin 5", "shared": 1, "url": "https://dantelabs.com/genes/aqp5" }, { "slug": "cd151", "symbol": "CD151", "name": "CD151 molecule (Raph blood group)", "shared": 1, "url": "https://dantelabs.com/genes/cd151" }, { "slug": "cdh2", "symbol": "CDH2", "name": "cadherin 2", "shared": 1, "url": "https://dantelabs.com/genes/cdh2" }, { "slug": "col17a1", "symbol": "COL17A1", "name": "collagen type XVII alpha 1 chain", "shared": 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