Disease #00101

Official abbreviation TMD
Name dystrophy, muscular, tibial (TMD)
OMIM ID 600334
Human Phenotype Ontology Project (HPO) HPO
Individuals reported having this disease 11
Phenotype entries for this disease 12
Associated with 1 gene TTN
Associated tissues -
Disease features -
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Individuals

11 entries on 1 page. Showing entries 1 - 11.
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00057951 - - 78 patents 12 unrelated families - ? Finland - - 0 - - TMD IHC no M8/M9-TTN epitopes but A169/A170 normal, CAPN3 severly reduced TTN TTN 2 78 Johan den Dunnen
00057952 - - 4-generation family, 5 affecteds (1 sub-clinical) - - Belgium - >52y 0 - - TMD CPK 497 TTN TTN 1 5 Johan den Dunnen
00057987 - PubMed: Hackman 2008, PubMed: Evila 2014 2-generation family, affected mother (Pat5A) and child (Pat5B) - no France - - 0 - - TMD considerably more severe TMD TTN TTN 2 1 Johan den Dunnen
00057988 - PubMed: Hackman 2008 3-generation family, 7 affecteds - no Spain - - 0 - - TMD - TTN TTN 1 7 Johan den Dunnen
00057989 - PubMed: Hackman 2008 3 affected sisters - no Spain - - 0 - - TMD - TTN TTN 1 2 Johan den Dunnen
00057990 - PubMed: Hackman 2008 3-generation family, 8 affecteds - no France - - 0 - - TMD moderately more severe TMD TTN TTN 1 8 Johan den Dunnen
00058359 - - 3 affecteds 2q31 linked TMD family - ? France - - 0 - - TMD late onset, unaffected 50-55y TTN TTN 1 3 Johan den Dunnen
00058412 - PubMed: Evila 2014 - F - Spain - - 0 - - TMD severe, unusual early onset TTN TTN 2 1 Claire Chauveau
00058414 - PubMed: Evila 2014 2-generation family, affected child of mother (18948003-FamC) - no France - - 0 - - TMD severe TTN TTN 2 1 Claire Chauveau
00058427 - PubMed: Pollazzon 2010 3-generation family, 8 affecteds (6F, 2M) - no Italy - - 0 - - TMD - TTN TTN 2 8 Claire Chauveau
00058431 - PubMed: Evila 2014 - F ? Portugal - - 0 - - TMD severe distal TTN TTN 2 1 Johan den Dunnen
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