Disease #00101

Official abbreviation TMD
Name dystrophy, muscular, tibial (TMD)
OMIM ID 600334
Human Phenotype Ontology Project (HPO) HPO
Inheritance -
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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