Disease #05113

Official abbreviation CMT
Name Charcot-Marie-Tooth disease (CMT)
OMIM ID -
Inheritance -
Individuals reported having this disease 674
Phenotype entries for this disease 641
Associated with 2 genes ATP1A1, VWA1
Associated tissues -
Disease features -
Remarks -


Individuals

674 entries on 7 pages. Showing entries 1 - 100.
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00036119 - - - - - Germany - - 0 - - CMT Charcot-Marie-Tooth disease (CMT) MFN2 MFN2 1 1 Andreas Laner
00036125 - - - - - Germany - - 0 - - CMT early onset axonal MFN2 MFN2 1 1 Andreas Laner
00037079 - - - - - Germany - - 0 - - CMT Charcot-Marie-Tooth disease (CMT) SH3TC2 SH3TC2 1 1 Andreas Laner
00056469 - PubMed: Zhang 2005 - ? ? China - - 0 - - CMT - HSPB8 HSPB8 1 2 Johan den Dunnen
00056471 - PubMed: Soong 2013 4-generation family, 8 affecteds - no China - - 0 - - CMT Charcot-Marie-Tooth disease (CMT) GNB4 GNB4 1 8 Johan den Dunnen
00056472 - PubMed: Soong 2013 2-generation family, unaffected parents F - China - >9y 0 - - CMT slowly progressive weakness distal lower limbs GNB4 GNB4 1 1 Johan den Dunnen
00063633 - PubMed: Miltenberger-Miltenyi 2009 - - - - - - 0 - - CMT - MPZ MPZ 1 1 Johan den Dunnen
00063635 - PubMed: Miltenberger-Miltenyi 2009 - - - - - - 0 - - CMT - MPZ MPZ 1 1 Johan den Dunnen
00063636 - PubMed: Gabreels-Festen 1996 - - - - - - 0 - - CMT - MPZ MPZ 1 1 Johan den Dunnen
00063644 - PubMed: Brozková 2010 - - - - - - 0 - - CMT - MPZ MPZ 1 1 Johan den Dunnen
00063646 - PubMed: Miltenberger-Miltenyi 2009 - - - - - - 0 - - CMT - MPZ MPZ 1 1 Johan den Dunnen
00063647 - PubMed: Shy 2004 - - - - - - 0 - - CMT - MPZ MPZ 1 1 Johan den Dunnen
00063650 - PubMed: Haites 1998 - - - - - - 0 - - CMT - MPZ MPZ 1 1 Johan den Dunnen
00063656 - PubMed: Bellone 2001 - - - - - - 0 - - CMT - MPZ MPZ 1 1 Johan den Dunnen
00063666 - PubMed: Hisama 2005 - - - - - - 0 - - CMT - MPZ MPZ 1 1 Johan den Dunnen
00063669 - PubMed: Nicolaou 2010 - - - - - - 0 - - CMT - MPZ MPZ 1 1 Johan den Dunnen
00063672 - PubMed: Misu 2000 - - - - - - 0 - - CMT - MPZ MPZ 1 1 Johan den Dunnen
00063676 - PubMed: Bienfait 2002 - - - - - - 0 - - CMT - MPZ MPZ 1 1 Johan den Dunnen
00063689 - PubMed: Brozková 2010 - - - - - - 0 - - CMT - MPZ MPZ 1 1 Johan den Dunnen
00063695 - PubMed: Miltenberger-Miltenyi 2009 - - - - - - 0 - - CMT - MPZ MPZ 1 1 Johan den Dunnen
00063698 - PubMed: Brozková 2010 - - - - - - 0 - - CMT - MPZ MPZ 1 1 Johan den Dunnen
00063706 - PubMed: Bienfait 2002 - - - - - - 0 - - CMT - MPZ MPZ 1 1 Johan den Dunnen
00063707 - PubMed: Takashima 2001 - - - - - - 0 - - CMT - MPZ MPZ 1 1 Johan den Dunnen
00063708 - PubMed: Takashima 2001 - - - - - - 0 - - CMT - MPZ MPZ 1 1 Johan den Dunnen
00063713 - PubMed: Takashima 2001 - - - - - - 0 - - CMT - MPZ MPZ 1 1 Johan den Dunnen
00063724 - PubMed: Tachi 1996 - - - - - - 0 - - CMT - MPZ MPZ 1 1 Johan den Dunnen
00063728 - PubMed: Brozková 2010 - - - - - - 0 - - CMT - MPZ MPZ 1 1 Johan den Dunnen
00063733 - PubMed: Gabreels-Festen 1996 - - - - - - 0 - - CMT - MPZ MPZ 1 1 Johan den Dunnen
00063741 - PubMed: Street 2002 - - - - - - 0 - - CMT - MPZ MPZ 1 1 Johan den Dunnen
00063743 - PubMed: Brozková 2010 - - - - - - 0 - - CMT - MPZ MPZ 1 1 Johan den Dunnen
00063750 - PubMed: Brozková 2010 - - - - - - 0 - - CMT - MPZ MPZ 1 1 Johan den Dunnen
00063755 - PubMed: Nelis 1996 - - - - - - 0 - - CMT - MPZ MPZ 1 1 Johan den Dunnen
00063756 - PubMed: Street 2002 - - - - - - 0 - - CMT - MPZ MPZ 1 1 Johan den Dunnen
00063764 - PubMed: Szigeti 2003 - - - - - - 0 - - CMT - MPZ MPZ 1 1 Johan den Dunnen
00063765 - PubMed: Miltenberger-Miltenyi 2009 - - - - - - 0 - - CMT - MPZ MPZ 1 1 Johan den Dunnen
00063766 - PubMed: Bort 1997 - - - - - - 0 - - CMT - MPZ MPZ 1 1 Johan den Dunnen
00063771 - PubMed: Bort 1997 - - - - - - 0 - - CMT - MPZ MPZ 1 1 Johan den Dunnen
00063772 - PubMed: Banchs 2010 - - - - - - 0 - - CMT - MPZ MPZ 1 1 Johan den Dunnen
00063783 - PubMed: Keckarevic-Markovic 2009 - - - - - - 0 - - CMT - MPZ MPZ 1 1 Johan den Dunnen
00063786 - PubMed: Street 2002 - - - - - - 0 - - CMT - MPZ MPZ 1 1 Johan den Dunnen
00073065 - - 1 isolated case - - - - - 0 - - cancer, CMT , cutis verticis gyrata, disseminated collagenoma FH FH 1 1 Jean-Pierre Bayley
00078888 - - - F - - - - 0 - - CMT - MFN2 MFN2 2 1 Alessandro Geroldi
00078889 - - - F - - - - 0 - - CMT - MFN2 MFN2 2 1 Alessandro Geroldi
00103671 ? PubMed: Di Maria 2004 - - - - - - 0 - - CMT Charcot-Marie-Tooth disease, autosomal recessive GDAP1 GDAP1 1 1 Johan den Dunnen
00103672 ? PubMed: Senderek 2003 - - - - - - 0 - - CMT Charcot-Marie-Tooth disease, autosomal recessive GDAP1 GDAP1 1 1 Johan den Dunnen
00103673 ? PubMed: Ammar 2003 - - - - - - 0 - - CMT Charcot-Marie-Tooth disease, autosomal recessive GDAP1 GDAP1 1 1 Johan den Dunnen
00103676 ? PubMed: Zimon 2011 - - - - - - 0 - - CMT Charcot-Marie-Tooth disease, autosomal dominant GDAP1 GDAP1 1 1 Johan den Dunnen
00103678 ? PubMed: Kabzinska 2005 - - - - - - 0 - - CMT Charcot-Marie-Tooth disease, autosomal recessive GDAP1 GDAP1 1 1 Johan den Dunnen
00103679 ? PubMed: Georgiou 2006 - - - - - - 0 - - CMT Charcot-Marie-Tooth disease, autosomal recessive GDAP1 GDAP1 1 1 Johan den Dunnen
00103682 ? PubMed: Kabzinska 2007 - - - - - - 0 - - CMT Charcot-Marie-Tooth disease, autosomal recessive GDAP1 GDAP1 1 1 Johan den Dunnen
00103683 ? PubMed: Zimon 2011 - - - - - - 0 - - CMT Charcot-Marie-Tooth disease, autosomal dominant GDAP1 GDAP1 1 1 Johan den Dunnen
00103687 ? PubMed: Zhang 2004 - - - - - - 0 - - CMT Charcot-Marie-Tooth disease, autosomal recessive GDAP1 GDAP1 1 1 Johan den Dunnen
00103688 ? PubMed: Stojkovic 2004 - - - - - - 0 - - CMT Charcot-Marie-Tooth disease, autosomal recessive GDAP1 GDAP1 1 1 Johan den Dunnen
00103689 ? PubMed: Barankova 2007 - - - - - - 0 - - CMT Charcot-Marie-Tooth disease, autosomal recessive GDAP1 GDAP1 1 1 Johan den Dunnen
00103692 ? PubMed: Auer-Grumbach 2008 - - - - - - 0 - - CMT Charcot-Marie-Tooth disease, autosomal recessive GDAP1 GDAP1 1 1 Johan den Dunnen
00103694 ? PubMed: Chung 2011 - - - - - - 0 - - CMT Charcot-Marie-Tooth disease, autosomal recessive GDAP1 GDAP1 1 1 Johan den Dunnen
00103698 ? PubMed: Xin 2008 - - - - - - 0 - - CMT Charcot-Marie-Tooth disease, autosomal recessive GDAP1 GDAP1 1 1 Johan den Dunnen
00103699 ? PubMed: Ammar 2003 - - - - - - 0 - - CMT Charcot-Marie-Tooth disease, autosomal recessive GDAP1 GDAP1 1 1 Johan den Dunnen
00103701 ? PubMed: Abe 2011 - - - - - - 0 - - CMT Charcot-Marie-Tooth disease, axonal GDAP1 GDAP1 1 1 Johan den Dunnen
00103702 ? PubMed: Zhang 2004 - - - - - - 0 - - CMT Charcot-Marie-Tooth disease, autosomal recessive GDAP1 GDAP1 1 1 Johan den Dunnen
00103706 ? PubMed: Ammar 2003 - - - - - - 0 - - CMT Charcot-Marie-Tooth disease, autosomal recessive GDAP1 GDAP1 1 1 Johan den Dunnen
00103708 ? PubMed: Zimon 2011 - - - - - - 0 - - CMT Charcot-Marie-Tooth disease, autosomal dominant GDAP1 GDAP1 1 1 Johan den Dunnen
00103711 ? PubMed: Abe 2011 - - - - - - 0 - - CMT Charcot-Marie-Tooth disease, axonal GDAP1 GDAP1 1 1 Johan den Dunnen
00103715 ? PubMed: Azzedine 2003 - - - - - - 0 - - CMT Charcot-Marie-Tooth disease, autosomal recessive GDAP1 GDAP1 1 1 Johan den Dunnen
00103717 ? PubMed: Kabzinska 2011 - - - - - - 0 - - CMT Charcot-Marie-Tooth disease 2C GDAP1 GDAP1 1 1 Johan den Dunnen
00103719 ? PubMed: Chung 2011 - - - - - - 0 - - CMT Charcot-Marie-Tooth disease, autosomal recessive GDAP1 GDAP1 1 1 Johan den Dunnen
00103720 ? PubMed: Ammar 2003 - - - - - - 0 - - CMT Charcot-Marie-Tooth disease, autosomal recessive GDAP1 GDAP1 1 1 Johan den Dunnen
00117852 - - - - - - - - 0 - - CMT Dominant, axonal, peripheral neuropathy AARS AARS 1 1 Heather McLaughlin
00117853 - - - - - - - - 0 - - CMT Dominant, axonal, peripheral neuropathy AARS AARS 1 1 Heather McLaughlin
00117854 - - - - - - - - 0 - - CMT Dominant, axonal Charcot-Marie-Tooth disease AARS AARS 1 1 Heather McLaughlin
00134128 - PubMed: Bergmann CMTX, change in GJB1 M - Germany - - 0 - - BMD, CMT - DMD DMD 1 1 Johan den Dunnen
00145074 - PubMed: Senderek 2003 - - - - - - 0 - - CMT - SH3TC2 SH3TC2 1 1 Johan den Dunnen
00145075 - PubMed: Azzedine 2006 - - - - - - 0 - - CMT - SH3TC2 SH3TC2 1 1 Johan den Dunnen
00145077 - PubMed: Lassuthova 2011 - - - - - - 0 - - CMT - SH3TC2 SH3TC2 1 1 Johan den Dunnen
00145078 - PubMed: Lassuthova 2011 - - - - - - 0 - - CMT - SH3TC2 SH3TC2 1 1 Johan den Dunnen
00145079 - PubMed: Azzedine 2006 - - - - - - 0 - - CMT - SH3TC2 SH3TC2 1 1 Johan den Dunnen
00145080 - PubMed: Lassuthova 2011 - - - - - - 0 - - CMT - SH3TC2 SH3TC2 1 1 Johan den Dunnen
00145081 - PubMed: Senderek 2003 - - - - - - 0 - - CMT - SH3TC2 SH3TC2 1 1 Johan den Dunnen
00145083 - PubMed: Lupo 2009 - - - - - - 0 - - CMT - SH3TC2 SH3TC2 1 1 Johan den Dunnen
00145084 - PubMed: Senderek 2003 - - - - - - 0 - - CMT - SH3TC2 SH3TC2 1 1 Johan den Dunnen
00145085 - PubMed: Senderek 2003 - - - - - - 0 - - CMT - SH3TC2 SH3TC2 1 1 Johan den Dunnen
00145086 - PubMed: Roberts 2010 - - - - - - 0 - - CMT - SH3TC2 SH3TC2 1 1 Johan den Dunnen
00145087 - PubMed: Azzedine 2006 - - - - - - 0 - - CMT - SH3TC2 SH3TC2 1 1 Johan den Dunnen
00145088 - PubMed: Claramunt 2007 - - - - - - 0 - - CMT - SH3TC2 SH3TC2 1 1 Johan den Dunnen
00145089 - PubMed: Senderek 2003 - - - - - - 0 - - CMT - SH3TC2 SH3TC2 1 1 Johan den Dunnen
00145091 - PubMed: Azzedine 2006 - - - - - - 0 - - CMT - SH3TC2 SH3TC2 1 1 Johan den Dunnen
00145092 - PubMed: Azzedine 2006 - - - - - - 0 - - CMT - SH3TC2 SH3TC2 1 1 Johan den Dunnen
00145093 - PubMed: Senderek 2003 - - - - - - 0 - - CMT - SH3TC2 SH3TC2 1 1 Johan den Dunnen
00145094 - PubMed: Senderek 2003 - - - - - - 0 - - CMT - SH3TC2 SH3TC2 1 1 Johan den Dunnen
00145095 - PubMed: Lupo 2009 - - - - - - 0 - - CMT - SH3TC2 SH3TC2 1 1 Johan den Dunnen
00145096 - PubMed: Gooding 2005 - - - - - - 0 - - CMT - SH3TC2 SH3TC2 1 1 Johan den Dunnen
00145097 - PubMed: Roberts 2010 - - - - - - 0 - - CMT - SH3TC2 SH3TC2 1 1 Johan den Dunnen
00145098 - PubMed: Senderek 2003 - - - - - - 0 - - CMT - SH3TC2 SH3TC2 1 1 Johan den Dunnen
00145099 - PubMed: Senderek 2003 - - - - - - 0 - - CMT - SH3TC2 SH3TC2 1 1 Johan den Dunnen
00145100 - PubMed: Lassuthova 2011 - - - - - - 0 - - CMT - SH3TC2 SH3TC2 1 1 Johan den Dunnen
00151837 - PubMed: Chow 2007 - - - - - - 0 - - CMT - FIG4 FIG4 1 1 Johan den Dunnen
00151838 - PubMed: Nicholson 2011 - - - - - - 0 - - CMT - FIG4 FIG4 1 1 Johan den Dunnen
00151839 - PubMed: Nicholson 2011 - - - - - - 0 - - CMT - FIG4 FIG4 1 1 Johan den Dunnen
00151842 - PubMed: Chow 2007 - - - - - - 0 - - CMT - FIG4 FIG4 1 1 Johan den Dunnen
00151844 - PubMed: Nicholson 2011 - - - - - - 0 - - CMT - FIG4 FIG4 1 1 Johan den Dunnen
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