Disease #02347 (NXD (Naxos disease (NXD)), OMIM:601214)

Official abbreviation NXD
Name Naxos disease (NXD)
OMIM ID 601214
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal recessive
Individuals reported having this disease 15
Phenotype entries for this disease 15
Associated with 1 gene JUP
Associated tissues -
Disease features -
Remarks -
Date created 2014-09-25 23:29:40 +02:00 (CEST)
Date last edited 2021-12-10 21:51:32 +01:00 (CET)


Individuals

15 entries on 1 page. Showing entries 1 - 15.
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00101451 10902626-FamJPat14 PubMed: McKoy 2000 2-generation family, 1 affected, unaffected heterozygous carrier parents/sibs M - Greece Naxos - - - - NXD arrhythmogenic right ventricular cardiomyopathy with palmoplantar keratoderma, woolly hair (Naxos disease) JUP JUP 1 1 Johan den Dunnen
00102672 10902626-FamA PubMed: McKoy 2000 2-generation family, 1 affected, unaffected heterozygous carrier parents/sibs M - Greece Naxos - - - - NXD arrhythmogenic right ventricular cardiomyopathy with palmoplantar keratoderma, woolly hair (Naxos disease) JUP JUP 1 1 Johan den Dunnen
00102673 10902626-PatB PubMed: McKoy 2000 isolated case - - Greece Naxos - - - - NXD arrhythmogenic right ventricular cardiomyopathy with palmoplantar keratoderma, woolly hair (Naxos disease) JUP JUP 1 1 Johan den Dunnen
00102674 10902626-FamC PubMed: McKoy 2000 2-generation family, 2 affecteds (2M), unaffected heterozygous carrier parents/sibs M - Greece Naxos - - - - NXD arrhythmogenic right ventricular cardiomyopathy with palmoplantar keratoderma, woolly hair (Naxos disease) JUP JUP 1 2 Johan den Dunnen
00102675 10902626-FamD PubMed: McKoy 2000 2-generation family, 2 affecteds (2F), unaffected heterozygous carrier parents/sibs F - Greece Naxos - - - - NXD arrhythmogenic right ventricular cardiomyopathy with palmoplantar keratoderma, woolly hair (Naxos disease) JUP JUP 1 2 Johan den Dunnen
00102676 10902626-PatE PubMed: McKoy 2000 isolated case M - Greece Naxos - - - - NXD arrhythmogenic right ventricular cardiomyopathy with palmoplantar keratoderma, woolly hair (Naxos disease) JUP JUP 1 1 Johan den Dunnen
00102677 10902626-FamF PubMed: McKoy 2000 2-generation family, affected sister/brother, unaffected heterozygous carrier parents/sibs F;M - Greece Naxos - - - - NXD arrhythmogenic right ventricular cardiomyopathy with palmoplantar keratoderma, woolly hair (Naxos disease) JUP JUP 1 2 Johan den Dunnen
00102678 10902626-FamG PubMed: McKoy 2000 2-generation family, 3 affecteds (2F, M), unaffected heterozygous carrier parents/sibs F;M - Greece Naxos - - - - NXD arrhythmogenic right ventricular cardiomyopathy with palmoplantar keratoderma, woolly hair (Naxos disease) JUP JUP 1 3 Johan den Dunnen
00102679 10902626-PatH PubMed: McKoy 2000 isolated case - - Greece Naxos - - - - NXD arrhythmogenic right ventricular cardiomyopathy with palmoplantar keratoderma, woolly hair (Naxos disease) JUP JUP 1 1 Johan den Dunnen
00102680 10902626-PatI PubMed: McKoy 2000 isolated case M - Greece Naxos - - - - NXD arrhythmogenic right ventricular cardiomyopathy with palmoplantar keratoderma, woolly hair (Naxos disease) JUP JUP 1 1 Johan den Dunnen
00102681 10902626-FamK PubMed: McKoy 2000 2-generation family, 1 affected, unaffected heterozygous carrier parents/sibs M - Greece Naxos - - - - NXD arrhythmogenic right ventricular cardiomyopathy with palmoplantar keratoderma, woolly hair (Naxos disease) JUP JUP 1 2 Johan den Dunnen
00102682 10902626-PatL PubMed: McKoy 2000 isolated case M - Greece Naxos - - - - NXD arrhythmogenic right ventricular cardiomyopathy with palmoplantar keratoderma, woolly hair (Naxos disease) JUP JUP 1 1 Johan den Dunnen
00102683 10902626-FamM PubMed: McKoy 2000 2-generation family, 2 affecteds (F, M), unaffected heterozygous carrier parents/sibs F;M - Greece Naxos - - - - NXD arrhythmogenic right ventricular cardiomyopathy with palmoplantar keratoderma, woolly hair (Naxos disease) JUP JUP 1 2 Johan den Dunnen
00102684 10902626-FamN PubMed: McKoy 2000 2-generation family, 1 affected, unaffected heterozygous carrier parents/sibs F - Greece Naxos - - - - NXD arrhythmogenic right ventricular cardiomyopathy with palmoplantar keratoderma, woolly hair (Naxos disease) JUP JUP 1 1 Johan den Dunnen
00209580 - PubMed: Lazaros TFC+; Naxos-disease: woolly hair; skin abnormalities - - - - - - - - NXD Naxos syndrome JUP JUP 1 1 Paul van der Zwaag
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