Disease #01085 (CCDS1;CDSX (deficiency, cerebral creatine, syndrome, type 1 (CCDS1, creatine deficiency syndrome, X-linked (CDSX))), OMIM:300352)

Official abbreviation CCDS1;CDSX
Name deficiency, cerebral creatine, syndrome, type 1 (CCDS1, creatine deficiency syndrome, X-linked (CDSX))
OMIM ID 300352
Human Phenotype Ontology Project (HPO) HPO
Inheritance X-linked recessive
Individuals reported having this disease 238
Phenotype entries for this disease 237
Associated with 1 gene SLC6A8
Associated tissues -
Disease features X-linked recessive
Remarks -


Individuals

238 entries on 3 pages. Showing entries 1 - 100.
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00185783 - PubMed: Cecil 2001, PubMed: degrauw 2002, PubMed: degrauw 2002 - M - United States - - 0 - - CCDS1;CDSX urinary creatine/creatinine ratio 1.5; creatine uptake cultured fibroblasts deficient SLC6A8 SLC6A8 1 1 Gajja Salomons
00185784 - PubMed: Cecil 2001, PubMed: degrauw 2002, PubMed: degrauw 2002 - F - United States - - 0 - - CCDS1;CDSX creatine uptake cultured fibroblasts normal SLC6A8 SLC6A8 1 1 Gajja Salomons
00185785 - PubMed: Cecil 2001, PubMed: degrauw 2002, PubMed: degrauw 2002 - F - United States - - 0 - - CCDS1;CDSX creatine uptake cultured fibroblasts tested SLC6A8 SLC6A8 1 1 Gajja Salomons
00185786 - PubMed: Cecil 2001, PubMed: degrauw 2002, PubMed: degrauw 2002 - F - United States - - 0 - - CCDS1;CDSX creatine uptake cultured fibroblasts tested SLC6A8 SLC6A8 1 1 Gajja Salomons
00185787 - PubMed: Cecil 2003 - F - United States - - 0 - - CCDS1;CDSX - SLC6A8 SLC6A8 1 1 Gajja Salomons
00185788 - PubMed: Cecil 2001, PubMed: degrauw 2002, PubMed: degrauw 2002 - M - United States - - 0 - - CCDS1;CDSX creatine uptake cultured fibroblasts deficient SLC6A8 SLC6A8 1 1 Gajja Salomons
00185789 - PubMed: Bizzi 2002 - M - Italy - - 0 - - CCDS1;CDSX MRS brain cr absent; urinary creatine/creatinine ratio 4.5 SLC6A8 SLC6A8 1 1 Gajja Salomons
00185790 - PubMed: Bizzi 2002 - F - Italy - - 0 - - CCDS1;CDSX - SLC6A8 SLC6A8 1 1 Gajja Salomons
00185791 - PubMed: Hahn 2002 - M - United States - - 0 - - CCDS1;CDSX urinary creatine/creatinine ratio 2.5; creatine uptake cultured fibroblasts deficient SLC6A8 SLC6A8 1 1 Gajja Salomons
00185792 - PubMed: Hahn 2002 - M - United States - - 0 - - CCDS1;CDSX urinary creatine/creatinine ratio 1.7; creatine uptake cultured fibroblasts deficient SLC6A8 SLC6A8 1 1 Gajja Salomons
00185793 - PubMed: Hahn 2002 - M - United States - - 0 - - CCDS1;CDSX - SLC6A8 SLC6A8 1 1 Gajja Salomons
00185794 - PubMed: Hahn 2002 - M - United States - - 0 - - CCDS1;CDSX - SLC6A8 SLC6A8 1 1 Gajja Salomons
00185795 - PubMed: Hahn 2002 - M - United States - - 0 - - CCDS1;CDSX - SLC6A8 SLC6A8 1 1 Gajja Salomons
00185796 - PubMed: Hahn 2002 - F - United States - - 0 - - CCDS1;CDSX - SLC6A8 SLC6A8 1 1 Gajja Salomons
00185797 - PubMed: Hahn 2002 - F - United States - - 0 - - CCDS1;CDSX - SLC6A8 SLC6A8 1 1 Gajja Salomons
00185798 - PubMed: Rosenberg 2004 - M - Germany - - 0 - - CCDS1;CDSX urinary creatine/creatinine ratio 2.3; creatine uptake cultured fibroblasts deficient SLC6A8 SLC6A8 1 1 Gajja Salomons
00185799 - PubMed: Rosenberg 2004 - F - Germany - - 0 - - CCDS1;CDSX - SLC6A8 SLC6A8 1 1 Gajja Salomons
00185800 - PubMed: Rosenberg 2004 - M - Germany - - 0 - - CCDS1;CDSX urinary creatine/creatinine ratio 2.3 SLC6A8 SLC6A8 1 1 Gajja Salomons
00185801 - PubMed: Rosenberg 2004 - F - Germany - - 0 - - CCDS1;CDSX urinary creatine/creatinine ratio 0.28; creatine uptake cultured fibroblasts not deficient SLC6A8 SLC6A8 1 1 Gajja Salomons
00185802 - PubMed: Rosenberg 2004 DNA status not tested M - Germany - - 0 - - CCDS1;CDSX - SLC6A8 SLC6A8 1 1 Gajja Salomons
00185803 - PubMed: Rosenberg 2004 DNA status not tested M - Germany - - 0 - - CCDS1;CDSX - SLC6A8 SLC6A8 1 1 Gajja Salomons
00185808 - PubMed: Rosenberg 2004 - M - France - - 0 - - CCDS1;CDSX - SLC6A8 SLC6A8 1 1 Gajja Salomons
00185820 - PubMed: Betsalel 2010 - F - France - - 0 - - CCDS1;CDSX MRS brain reduced; creatine uptake cultured fibroblasts deficient SLC6A8 SLC6A8 1 1 Gajja Salomons
00185821 - Journal: Wilcken 2008 - M - Australia - - 0 - - CCDS1;CDSX MRS brain low absent creatine; urinary creatine/creatinine ratio 3.4 SLC6A8 SLC6A8 1 1 Gajja Salomons
00185822 - PubMed: Schiaffino 2005 - M - Italy - - 0 - - CCDS1;CDSX urinary creatine/creatinine ratio 3.6; creatine uptake cultured fibroblasts deficient SLC6A8 SLC6A8 1 1 Gajja Salomons
00185823 - PubMed: Schiaffino 2005 - F - Italy - - 0 - - CCDS1;CDSX - SLC6A8 SLC6A8 1 1 Gajja Salomons
00185825 - PubMed: degrauw 2002 - M - United States - - 0 - - CCDS1;CDSX MRS brain near absent cr; creatine uptake cultured fibroblasts deficient SLC6A8 SLC6A8 1 1 Gajja Salomons
00185826 - PubMed: degrauw 2002 - M - United States - - 0 - - CCDS1;CDSX MRS brain near absent cr; urinary creatine/creatinine ratio 3.2 SLC6A8 SLC6A8 1 1 Gajja Salomons
00185827 - PubMed: degrauw 2002 - F - United States - - 0 - - CCDS1;CDSX urinary creatine/creatinine ratio 0.43 SLC6A8 SLC6A8 1 1 Gajja Salomons
00185828 - PubMed: degrauw 2002 - F - United States - - 0 - - CCDS1;CDSX urinary creatine/creatinine ratio 0.24 SLC6A8 SLC6A8 1 1 Gajja Salomons
00185829 - PubMed: Rosenberg 2004 - M - France - - 0 - - CCDS1;CDSX - SLC6A8 SLC6A8 1 1 Gajja Salomons
00185830 - PubMed: Rosenberg 2004 - M - France - - 0 - - CCDS1;CDSX - SLC6A8 SLC6A8 1 1 Gajja Salomons
00185831 - PubMed: degrauw 2002, PubMed: Rosenberg 2007 - M - Austria - - 0 - - CCDS1;CDSX urinary creatine/creatinine ratio 2.9 / 3.6 SLC6A8 SLC6A8 1 1 Gajja Salomons
00185832 - PubMed: Rosenberg 2004 - M - France - - 0 - - CCDS1;CDSX - SLC6A8 SLC6A8 1 1 Gajja Salomons
00185834 - PubMed: van de Kamp 2013 - F - France - - 0 - - CCDS1;CDSX MRS brain low creatine SLC6A8 SLC6A8 1 1 Gajja Salomons
00185835 - PubMed: van de Kamp 2013 - M - France - - 0 - - CCDS1;CDSX MRS brain reduced creatine; urinary creatine/creatinine ratio increased; creatine uptake cultured fibroblasts deficient SLC6A8 SLC6A8 1 1 Gajja Salomons
00185843 - Journal: De Kort 2006 - M - - - - 0 - - CCDS1;CDSX - SLC6A8 SLC6A8 1 1 Gajja Salomons
00185844 - PubMed: van de Kamp 2013 - F - France - - 0 - - CCDS1;CDSX - SLC6A8 SLC6A8 1 1 Gajja Salomons
00185845 - PubMed: van de Kamp 2013 - F - France - - 0 - - CCDS1;CDSX - SLC6A8 SLC6A8 1 1 Gajja Salomons
00185846 - PubMed: van de Kamp 2013 - M - France - - 0 - - CCDS1;CDSX MRS brain reduced; urinary creatine/creatinine ratio 4.0; creatine uptake cultured fibroblasts deficient SLC6A8 SLC6A8 1 1 Gajja Salomons
00185847 - PubMed: Lion-Francois 2006 - M - France - - 0 - - CCDS1;CDSX MRS brain absent cr; urinary creatine/creatinine ratio 3.2 SLC6A8 SLC6A8 1 1 Gajja Salomons
00185848 - PubMed: Lion-Francois 2006 - F - France - - 0 - - CCDS1;CDSX - SLC6A8 SLC6A8 1 1 Gajja Salomons
00185851 - PubMed: van de Kamp 2013 - M - Netherlands - - 0 - - CCDS1;CDSX MRS brain reduced; urinary creatine/creatinine ratio increased SLC6A8 SLC6A8 1 1 Gajja Salomons
00185852 - PubMed: van de Kamp 2013 - M - Netherlands - - 0 - - CCDS1;CDSX MRS brain reduced; urinary creatine/creatinine ratio increased SLC6A8 SLC6A8 1 1 Gajja Salomons
00185853 - PubMed: van de Kamp 2013 - F - Netherlands - - 0 - - CCDS1;CDSX MRS brain jiddeke; creatine uptake cultured fibroblasts silvy SLC6A8 SLC6A8 1 1 Gajja Salomons
00185854 - PubMed: van de Kamp 2013 - M - Belgium - - 0 - - CCDS1;CDSX MRS brain reduced; urinary creatine/creatinine ratio 2.7; creatine uptake cultured fibroblasts deficient SLC6A8 SLC6A8 1 1 Gajja Salomons
00185855 - PubMed: van de Kamp 2013 - F - United States - - 0 - - CCDS1;CDSX MRS brain reduced; urinary creatine/creatinine ratio increased SLC6A8 SLC6A8 1 1 Gajja Salomons
00185857 - PubMed: Betsalel 2010 - F - Germany - - 0 - - CCDS1;CDSX - SLC6A8 SLC6A8 1 1 Gajja Salomons
00185858 - PubMed: Betsalel 2010 - M - Germany - - 0 - - CCDS1;CDSX MRS brain cr absent; urinary creatine/creatinine ratio increased SLC6A8 SLC6A8 1 1 Gajja Salomons
00185859 - PubMed: Betsalel 2010 - M - Germany - - 0 - - CCDS1;CDSX MRS brain cr absent; urinary creatine/creatinine ratio increased SLC6A8 SLC6A8 1 1 Gajja Salomons
00185863 - PubMed: Lion-Francois 2006 - M - France - - 0 - - CCDS1;CDSX MRS brain cr absent; urinary creatine/creatinine ratio 2.7; creatine uptake cultured fibroblasts deficient SLC6A8 SLC6A8 1 1 Gajja Salomons
00185864 - PubMed: Lion-Francois 2006 - F - France - - 0 - - CCDS1;CDSX - SLC6A8 SLC6A8 1 1 Gajja Salomons
00185865 - PubMed: Poo-Arguelles 2006 - M - Spain - - 0 - - CCDS1;CDSX MRS brain cr absent; urinary creatine/creatinine ratio 3.0 / 3.4; creatine uptake cultured fibroblasts deficient SLC6A8 SLC6A8 1 1 Gajja Salomons
00185866 - PubMed: Poo-Arguelles 2006 - F - Spain - - 0 - - CCDS1;CDSX - SLC6A8 SLC6A8 1 1 Gajja Salomons
00185867 - PubMed: van de Kamp 2013 - M - Portugal - - 0 - - CCDS1;CDSX urinary creatine/creatinine ratio increased SLC6A8 SLC6A8 1 1 Gajja Salomons
00185868 - PubMed: van de Kamp 2013 - F - Portugal - - 0 - - CCDS1;CDSX - SLC6A8 SLC6A8 1 1 Gajja Salomons
00185869 - PubMed: degrauw 2002 - M - United States - - 0 - - CCDS1;CDSX MRS brain severely decreased cr; urinary creatine/creatinine ratio 5.2; creatine uptake cultured fibroblasts deficient SLC6A8 SLC6A8 1 1 Gajja Salomons
00185870 - PubMed: degrauw 2002 mutation appears to be mosaic, and was not detected in the mother F - United States - - 0 - - CCDS1;CDSX creatine uptake cultured fibroblasts normal SLC6A8 SLC6A8 1 1 Gajja Salomons
00185872 - PubMed: Clark 2006 - M - United States - - 0 - - CCDS1;CDSX - SLC6A8 SLC6A8 1 1 Gajja Salomons
00185873 - PubMed: Clark 2006, PubMed: Rosenberg 2007 - M - - - - 0 - - CCDS1;CDSX - SLC6A8 SLC6A8 1 1 Gajja Salomons
00185874 - PubMed: Clark 2006, PubMed: Rosenberg 2007 - F - - - - 0 - - CCDS1;CDSX - SLC6A8 SLC6A8 1 1 Gajja Salomons
00185875 - PubMed: Clark 2006, PubMed: Rosenberg 2007 - M - Norway - - 0 - - CCDS1;CDSX - SLC6A8 SLC6A8 1 1 Gajja Salomons
00185876 - PubMed: Clark 2006, PubMed: Rosenberg 2007 - M - France - - 0 - - CCDS1;CDSX MRS brain absent; urinary creatine/creatinine ratio increased SLC6A8 SLC6A8 1 1 Gajja Salomons
00185877 - PubMed: Clark 2006, PubMed: Rosenberg 2007 - F - - - - 0 - - CCDS1;CDSX - SLC6A8 SLC6A8 1 1 Gajja Salomons
00185878 - PubMed: Battini 2007 - M - Italy - - 0 - - CCDS1;CDSX MRS brain cr absent; urinary creatine/creatinine ratio 2.0; creatine uptake cultured fibroblasts deficient SLC6A8 SLC6A8 1 1 Gajja Salomons
00185879 - PubMed: Rosenberg 2004 - M - - - - 0 - - CCDS1;CDSX - SLC6A8 SLC6A8 1 1 Gajja Salomons
00185880 - PubMed: Rosenberg 2004 - M - - - - 0 - - CCDS1;CDSX - SLC6A8 SLC6A8 1 1 Gajja Salomons
00185881 - PubMed: Kleefstra 2005, PubMed: Rosenberg 2004 - M - - - - 0 - - CCDS1;CDSX urinary creatine/creatinine ratio 1.105 SLC6A8 SLC6A8 1 1 Gajja Salomons
00185882 - PubMed: Kleefstra 2005, PubMed: Rosenberg 2004 - F - - - - 0 - - CCDS1;CDSX urinary creatine/creatinine ratio 0.268 SLC6A8 SLC6A8 1 1 Gajja Salomons
00185883 - PubMed: Kleefstra 2005, PubMed: Rosenberg 2004 - M - - - - 0 - - CCDS1;CDSX - SLC6A8 SLC6A8 1 1 Gajja Salomons
00185884 - PubMed: Fons 2008 - M - - - - 0 - - CCDS1;CDSX MRS brain low-near absent cr; urinary creatine/creatinine ratio 3.7; creatine uptake cultured fibroblasts deficient SLC6A8 SLC6A8 1 1 Gajja Salomons
00185885 - PubMed: Fons 2008 - F - - - - 0 - - CCDS1;CDSX - SLC6A8 SLC6A8 1 1 Gajja Salomons
00185886 - PubMed: van de Kamp 2013 - M - United States - - 0 - - CCDS1;CDSX urinary creatine/creatinine ratio 4.8; creatine uptake cultured fibroblasts deficient SLC6A8 SLC6A8 1 1 Gajja Salomons
00185887 - PubMed: Clark 2006 - M - United States - - 0 - - CCDS1;CDSX urinary creatine/creatinine ratio 1.4 SLC6A8 SLC6A8 1 1 Gajja Salomons
00185892 - PubMed: Clark 2006 - M - United States - - 0 - - CCDS1;CDSX - SLC6A8 SLC6A8 1 1 Gajja Salomons
00185893 - PubMed: Betsalel 2008 - M - - - - 0 - - CCDS1;CDSX MRS brain nearly absent; urinary creatine/creatinine ratio 2.6; creatine uptake cultured fibroblasts deficient SLC6A8 SLC6A8 1 1 Gajja Salomons
00185894 - PubMed: Betsalel 2008 - F - - - - 0 - - CCDS1;CDSX - SLC6A8 SLC6A8 1 1 Gajja Salomons
00185895 - PubMed: Betsalel 2008 - M - - - - 0 - - CCDS1;CDSX urinary creatine/creatinine ratio increased SLC6A8 SLC6A8 1 1 Gajja Salomons
00185896 - PubMed: van de Kamp 2013 - M - Netherlands - - 0 - - CCDS1;CDSX urinary creatine/creatinine ratio increased SLC6A8 SLC6A8 1 1 Gajja Salomons
00185897 - PubMed: van de Kamp 2013 - M - Netherlands - - 0 - - CCDS1;CDSX urinary creatine/creatinine ratio increased SLC6A8 SLC6A8 1 1 Gajja Salomons
00185898 - PubMed: van de Kamp 2013 - F - Netherlands - - 0 - - CCDS1;CDSX - SLC6A8 SLC6A8 1 1 Gajja Salomons
00185899 - PubMed: van de Kamp 2013 - M - Belgium - - 0 - - CCDS1;CDSX MRS brain creatine peak absent; creatine uptake cultured fibroblasts deficient SLC6A8 SLC6A8 1 1 Gajja Salomons
00185900 - PubMed: van de Kamp 2013 - F - Belgium - - 0 - - CCDS1;CDSX - SLC6A8 SLC6A8 1 1 Gajja Salomons
00185901 - PubMed: van de Kamp 2013 - F - Belgium - - 0 - - CCDS1;CDSX - SLC6A8 SLC6A8 1 1 Gajja Salomons
00185912 - PubMed: Clark 2006 - M - United States - - 0 - - CCDS1;CDSX - SLC6A8 SLC6A8 1 1 Gajja Salomons
00185914 - PubMed: Rosenberg 2004 - M - France - - 0 - - CCDS1;CDSX - SLC6A8 SLC6A8 1 1 Gajja Salomons
00185915 - PubMed: Rosenberg 2004 - M - France - - 0 - - CCDS1;CDSX - SLC6A8 SLC6A8 1 1 Gajja Salomons
00185916 - PubMed: Rosenberg 2004, PubMed: Rosenberg 2007 - M - Germany - - 0 - - CCDS1;CDSX - SLC6A8 SLC6A8 1 1 Gajja Salomons
00185917 - PubMed: Rosenberg 2004, PubMed: Rosenberg 2007 - F - Germany - - 0 - - CCDS1;CDSX - SLC6A8 SLC6A8 1 1 Gajja Salomons
00185918 - PubMed: Rosenberg 2004, PubMed: Rosenberg 2007 - F - Germany - - 0 - - CCDS1;CDSX - SLC6A8 SLC6A8 1 1 Gajja Salomons
00185919 - PubMed: Rosenberg 2004, PubMed: Rosenberg 2007 - M - Germany - - 0 - - CCDS1;CDSX - SLC6A8 SLC6A8 1 1 Gajja Salomons
00185920 - PubMed: Rosenberg 2004, PubMed: Rosenberg 2007 - M - Portugal - - 0 - - CCDS1;CDSX urinary creatine/creatinine ratio 2.9 / 3.02 SLC6A8 SLC6A8 1 1 Gajja Salomons
00185921 - PubMed: Rosenberg 2004, PubMed: Rosenberg 2007 - F - Portugal - - 0 - - CCDS1;CDSX - SLC6A8 SLC6A8 1 1 Gajja Salomons
00185922 - PubMed: Rosenberg 2004, PubMed: Rosenberg 2007 - F - Portugal - - 0 - - CCDS1;CDSX urinary creatine/creatinine ratio 0.43 SLC6A8 SLC6A8 1 1 Gajja Salomons
00185923 - PubMed: Poo-Arguelles 2006 - M - Spain - - 0 - - CCDS1;CDSX MRS brain cr low-near absent; urinary creatine/creatinine ratio 2.9; creatine uptake cultured fibroblasts deficient SLC6A8 SLC6A8 1 1 Gajja Salomons
00185924 - PubMed: Poo-Arguelles 2006 - F - Spain - - 0 - - CCDS1;CDSX - SLC6A8 SLC6A8 1 1 Gajja Salomons
00185925 - PubMed: degrauw 2002 - M - United States - - 0 - - CCDS1;CDSX creatine uptake cultured fibroblasts deficient SLC6A8 SLC6A8 1 1 Gajja Salomons
00185926 - PubMed: degrauw 2002, PubMed: Bizzi 2002 - M - United States - - 0 - - CCDS1;CDSX urinary creatine/creatinine ratio 3.0 SLC6A8 SLC6A8 1 1 Gajja Salomons
00185927 - PubMed: degrauw 2002, PubMed: Bizzi 2002 - M - Portugal - - 0 - - CCDS1;CDSX - SLC6A8 SLC6A8 1 1 Gajja Salomons
00185928 - PubMed: degrauw 2002, PubMed: Bizzi 2002 - M - Netherlands - - 0 - - CCDS1;CDSX urinary creatine/creatinine ratio 4.5 SLC6A8 SLC6A8 1 1 Gajja Salomons
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