Disease #01280

Official abbreviation DRPLA
Name atrophy, pallidoluysian, dentatorubral (DRPLA)
OMIM ID 125370
Human Phenotype Ontology Project (HPO) HPO
Individuals reported having this disease 57
Phenotype entries for this disease 57
Associated with 1 gene ATN1
Associated tissues -
Disease features -
Remarks -


Individuals

57 entries on 1 page. Showing entries 1 - 57.
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00104496 07824105-Pat PubMed: Komure 1995 38 affecteds from 12 families - - Japan - - 0 - - DRPLA adult onset DRPLA ATN1 ATN1 1 1 Johan den Dunnen
00104497 07824105-Fam2Pat10 PubMed: Komure 1995 3-generation family, 6 affecteds (3F, 3M), grandfather - - Japan - - 0 - - DRPLA - ATN1 ATN1 1 6 Johan den Dunnen
00104498 07824105-Fam2Pat11 PubMed: Komure 1995 son Fam2Pat11 - - Japan - - 0 - - DRPLA - ATN1 ATN1 1 1 Johan den Dunnen
00104499 07824105-Fam2Pat12 PubMed: Komure 1995 grandson Fam2Pat12 - - Japan - - 0 - - DRPLA - ATN1 ATN1 1 1 Johan den Dunnen
00104501 07824105-Pat38 PubMed: Komure 1995 38 affecteds from 12 families - - Japan - 46y 0 - - DRPLA 35y-cerebellar ataxia,choreoathetosis, myoclonus; 46y-deceased ATN1 ATN1 1 1 Johan den Dunnen
00104502 07824105-Pat PubMed: Komure 1995 38 affecteds from 12 families - - Japan - - 0 - - DRPLA adult onset ATN1 ATN1 1 1 Johan den Dunnen
00104503 07824105-Pat PubMed: Komure 1995 38 affecteds from 12 families - - Japan - - 0 - - DRPLA adult onset ATN1 ATN1 1 1 Johan den Dunnen
00104504 07824105-Pat PubMed: Komure 1995 38 affecteds from 12 families - - Japan - - 0 - - DRPLA adult onset ATN1 ATN1 1 1 Johan den Dunnen
00104505 07824105-Pat PubMed: Komure 1995 38 affecteds from 12 families - - Japan - - 0 - - DRPLA adult onset ATN1 ATN1 1 1 Johan den Dunnen
00104506 07824105-Pat PubMed: Komure 1995 38 affecteds from 12 families - - Japan - - 0 - - DRPLA adult onset ATN1 ATN1 1 1 Johan den Dunnen
00104507 07824105-Pat PubMed: Komure 1995 38 affecteds from 12 families - - Japan - - 0 - - DRPLA adult onset ATN1 ATN1 1 1 Johan den Dunnen
00104508 07824105-Pat PubMed: Komure 1995 38 affecteds from 12 families - - Japan - - 0 - - DRPLA adult onset ATN1 ATN1 1 1 Johan den Dunnen
00104509 07824105-Pat PubMed: Komure 1995 38 affecteds from 12 families - - Japan - - 0 - - DRPLA adult onset ATN1 ATN1 1 1 Johan den Dunnen
00104510 07824105-Pat PubMed: Komure 1995 38 affecteds from 12 families - - Japan - - 0 - - DRPLA adult onset ATN1 ATN1 1 1 Johan den Dunnen
00104511 07824105-Pat PubMed: Komure 1995 38 affecteds from 12 families - - Japan - - 0 - - DRPLA adult onset ATN1 ATN1 1 1 Johan den Dunnen
00104512 07824105-Pat PubMed: Komure 1995 38 affecteds from 12 families - - Japan - - 0 - - DRPLA adult onset ATN1 ATN1 1 1 Johan den Dunnen
00104513 07824105-Pat PubMed: Komure 1995 38 affecteds from 12 families - - Japan - - 0 - - DRPLA adult onset ATN1 ATN1 1 1 Johan den Dunnen
00104514 07824105-Pat PubMed: Komure 1995 38 affecteds from 12 families - - Japan - - 0 - - DRPLA adult onset ATN1 ATN1 1 1 Johan den Dunnen
00104515 07824105-Pat PubMed: Komure 1995 38 affecteds from 12 families - - Japan - - 0 - - DRPLA adult onset ATN1 ATN1 1 1 Johan den Dunnen
00104516 07824105-Pat PubMed: Komure 1995 38 affecteds from 12 families - - Japan - - 0 - - DRPLA juvenile onset ATN1 ATN1 1 1 Johan den Dunnen
00104517 07824105-Pat PubMed: Komure 1995 38 affecteds from 12 families - - Japan - - 0 - - DRPLA adult onset ATN1 ATN1 1 1 Johan den Dunnen
00104518 07824105-Pat PubMed: Komure 1995 38 affecteds from 12 families - - Japan - - 0 - - DRPLA adult onset ATN1 ATN1 1 1 Johan den Dunnen
00104519 07824105-Pat PubMed: Komure 1995 38 affecteds from 12 families - - Japan - - 0 - - DRPLA juvenile onset ATN1 ATN1 1 1 Johan den Dunnen
00104520 07824105-Pat PubMed: Komure 1995 38 affecteds from 12 families - - Japan - - 0 - - DRPLA juvenile onset ATN1 ATN1 1 1 Johan den Dunnen
00104521 07824105-Pat PubMed: Komure 1995 38 affecteds from 12 families - - Japan - - 0 - - DRPLA juvenile onset ATN1 ATN1 1 1 Johan den Dunnen
00104522 07824105-Pat PubMed: Komure 1995 38 affecteds from 12 families - - Japan - - 0 - - DRPLA juvenile onset ATN1 ATN1 1 1 Johan den Dunnen
00104523 07824105-Pat PubMed: Komure 1995 38 affecteds from 12 families - - Japan - - 0 - - DRPLA juvenile onset ATN1 ATN1 1 1 Johan den Dunnen
00104524 07824105-Pat PubMed: Komure 1995 38 affecteds from 12 families - - Japan - - 0 - - DRPLA juvenile onset ATN1 ATN1 1 1 Johan den Dunnen
00104525 07824105-Pat PubMed: Komure 1995 38 affecteds from 12 families - - Japan - - 0 - - DRPLA juvenile onset ATN1 ATN1 1 1 Johan den Dunnen
00104526 07824105-Pat PubMed: Komure 1995 38 affecteds from 12 families - - Japan - - 0 - - DRPLA juvenile onset ATN1 ATN1 1 1 Johan den Dunnen
00104527 07824105-Pat PubMed: Komure 1995 38 affecteds from 12 families - - Japan - - 0 - - DRPLA juvenile onset ATN1 ATN1 1 1 Johan den Dunnen
00104528 07824105-Pat PubMed: Komure 1995 38 affecteds from 12 families - - Japan - - 0 - - DRPLA juvenile onset ATN1 ATN1 1 1 Johan den Dunnen
00104529 07824105-Pat PubMed: Komure 1995 38 affecteds from 12 families - - Japan - - 0 - - DRPLA juvenile onset ATN1 ATN1 1 1 Johan den Dunnen
00104530 07824105-Pat PubMed: Komure 1995 38 affecteds from 12 families - - Japan - - 0 - - DRPLA juvenile onset ATN1 ATN1 1 1 Johan den Dunnen
00104531 07824105-Pat PubMed: Komure 1995 38 affecteds from 12 families - - Japan - - 0 - - DRPLA juvenile onset ATN1 ATN1 1 1 Johan den Dunnen
00104532 07824105-Pat PubMed: Komure 1995 38 affecteds from 12 families - - Japan - - 0 - - DRPLA juvenile onset ATN1 ATN1 1 1 Johan den Dunnen
00104533 07824105-Pat PubMed: Komure 1995 38 affecteds from 12 families - - Japan - - 0 - - DRPLA juvenile onset ATN1 ATN1 1 1 Johan den Dunnen
00262063 patient PubMed: Koide 1994 - - - Japan - - 0 - - DRPLA progressive myoclonus epilepsy ATN1 ATN1 1 1 Johan den Dunnen
00262064 patient PubMed: Koide 1994 - - - Japan - - 0 - - DRPLA progressive myoclonus epilepsy ATN1 ATN1 1 1 Johan den Dunnen
00262065 patient PubMed: Koide 1994 - - - Japan - - 0 - - DRPLA progressive myoclonus epilepsy ATN1 ATN1 1 1 Johan den Dunnen
00262066 patient PubMed: Koide 1994 - - - Japan - - 0 - - DRPLA progressive myoclonus epilepsy ATN1 ATN1 1 1 Johan den Dunnen
00262067 patient PubMed: Koide 1994 - - - Japan - - 0 - - DRPLA progressive myoclonus epilepsy ATN1 ATN1 1 1 Johan den Dunnen
00262068 patient PubMed: Koide 1994 - - - Japan - - 0 - - DRPLA progressive myoclonus epilepsy ATN1 ATN1 1 1 Johan den Dunnen
00262069 patient PubMed: Koide 1994 - - - Japan - - 0 - - DRPLA progressive myoclonus epilepsy ATN1 ATN1 1 1 Johan den Dunnen
00262070 patient PubMed: Koide 1994 - - - Japan - - 0 - - DRPLA progressive myoclonus epilepsy ATN1 ATN1 1 1 Johan den Dunnen
00262071 patient PubMed: Koide 1994 - - - Japan - - 0 - - DRPLA - ATN1 ATN1 1 1 Johan den Dunnen
00262072 patient PubMed: Koide 1994 - - - Japan - - 0 - - DRPLA - ATN1 ATN1 1 1 Johan den Dunnen
00262073 patient PubMed: Koide 1994 - - - Japan - - 0 - - DRPLA - ATN1 ATN1 1 1 Johan den Dunnen
00262074 patient PubMed: Koide 1994 - - - Japan - - 0 - - DRPLA - ATN1 ATN1 1 1 Johan den Dunnen
00262075 patient PubMed: Koide 1994 - - - Japan - - 0 - - DRPLA progressive myoclonus epilepsy ATN1 ATN1 1 1 Johan den Dunnen
00262076 patient PubMed: Koide 1994 - - - Japan - - 0 - - DRPLA progressive myoclonus epilepsy ATN1 ATN1 1 1 Johan den Dunnen
00262077 patient PubMed: Koide 1994 - - - Japan - - 0 - - DRPLA - ATN1 ATN1 1 1 Johan den Dunnen
00262078 patient PubMed: Koide 1994 - - - Japan - - 0 - - DRPLA - ATN1 ATN1 1 1 Johan den Dunnen
00262079 patient PubMed: Koide 1994 - - - Japan - - 0 - - DRPLA - ATN1 ATN1 1 1 Johan den Dunnen
00262080 patient PubMed: Koide 1994 - - - Japan - - 0 - - DRPLA - ATN1 ATN1 1 1 Johan den Dunnen
00262081 patient PubMed: Koide 1994 - - - Japan - - 0 - - DRPLA - ATN1 ATN1 1 1 Johan den Dunnen
00262082 patient PubMed: Koide 1994 - - - Japan - - 0 - - DRPLA - ATN1 ATN1 1 1 Johan den Dunnen
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