Disease #01474

Official abbreviation SCA-1
Name ataxia, spinocerebellar, type 1 (SCA-1)
OMIM ID 164400
Human Phenotype Ontology Project (HPO) HPO
Inheritance -
Individuals reported having this disease 8
Phenotype entries for this disease 7
Associated with 1 gene ATXN1
Associated tissues -
Disease features -
Remarks -


Individuals

8 entries on 1 page. Showing entries 1 - 8.
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00104557 11973634-PatM PubMed: Zuhlke 2002, Journal: Zuhlke 2002 patient Fam1PatI1 M no Germany - - 0 - - SCA-1 see paper; … ATXN1 ATXN1 2 3 Johan den Dunnen
00104558 11973633-PatL PubMed: Zuhlke 2002, Journal: Zuhlke 2002 patient Fam1PatII2 M no Germany - - 0 - - SCA-1 see paper; … ATXN1 ATXN1 2 1 Johan den Dunnen
00104559 11973635-PatN PubMed: Zuhlke 2002, Journal: Zuhlke 2002 patient Fam1PatII1 F no Germany - - 0 - - SCA-1 see paper; … ATXN1 ATXN1 2 1 Johan den Dunnen
00104560 11973636-PatO PubMed: Zuhlke 2002, Journal: Zuhlke 2002 - M no Germany - - 0 - - SCA-1 see paper; … ATXN1 ATXN1 2 1 Johan den Dunnen
00104561 11973637-PatP PubMed: Zuhlke 2002, Journal: Zuhlke 2002 - F no Germany - - 0 - - SCA-1 see paper; … ATXN1 ATXN1 2 1 Johan den Dunnen
00104562 11973638-PatQ PubMed: Zuhlke 2002, Journal: Zuhlke 2002 - F no Germany - - 0 - - SCA-1 see paper; … ATXN1 ATXN1 2 1 Johan den Dunnen
00104563 11973639-PatR PubMed: Zuhlke 2002, Journal: Zuhlke 2002 - F no Germany - - 0 - - SCA-1 see paper; … ATXN1 ATXN1 2 1 Johan den Dunnen
00106553 606181126 - Mother is also affected F ? (Germany) - - 0 no - SCA-1, SCA-10, SCA-11, SCA-14, SCA-17, SCA-27, SCA-5, SCA-6, SCA-7, SCA-8 - FGF14, PRKACG, PRKCG, SPTBN2, TTBK2 PRKCG 1 1 Friederike Hein
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