Disease #02465

Official abbreviation HMERF
Name myopathy, hereditary with early respiratory failure (HMERF)
OMIM ID 603689
Human Phenotype Ontology Project (HPO) HPO
Individuals reported having this disease 27
Phenotype entries for this disease 27
Associated with 1 gene TTN
Associated tissues -
Disease features -
Remarks -


Individuals

27 entries on 1 page. Showing entries 1 - 27.
Legend  

AscendingIndividual ID     

Individual_ID     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age/Death     

VIP     

Data_av     

Treatment     

Disease     

Genes screened

Variants in genes

Variants     

Panel size     

Owner     
00057978 - - 4-generation family, 8 affecteds - - Sweden - - 0 - - HMERF TTN TTN 1 8 Johan den Dunnen
00057979 - - 3-generation family, 4 affecteds - - Sweden - - 0 - - HMERF TTN TTN 1 4 Johan den Dunnen
00057980 - - unrelated patient - - Sweden - - 0 - - HMERF TTN TTN 1 1 Johan den Dunnen
00058418 - PubMed: Palmio 2014 3-generation family, 3 affecteds F no France - - 0 - - HMERF TTN TTN 1 3 Claire Chauveau
00058419 - PubMed: Chinnery 2001, PubMed: Pfeffer 2012 6-generation family, 24 affecteds (15F, 9M) - no United Kingdom (Great Britain) - - 0 - - HMERF TTN CDCA7, CERKL, GORASP2, OSBPL6, RAPGEF4, TTN, WIPF1 19 24 Claire Chauveau
00058422 - PubMed: Palmio 2014 2-generation family, 1 affected - no United Kingdom (Great Britain) - - 0 - - HMERF TTN TTN 1 1 Claire Chauveau
00058423 - PubMed: Izumi 2013 7-generation family, 20 affecteds (7F, 13M) - no Japan - - 0 - - HMERF IKBKB, TTN IKBKB, TTN 2 20 Claire Chauveau
00058424 - PubMed: Palmio 2014 3-generation family, 2 affecteds - no Germany - - 0 - - HMERF TTN TTN 1 2 Claire Chauveau
00058425 - PubMed: Toro 2013 3-generation family, 7 affected males M no United States Caucasian, Europe - 0 - - HMERF TTN TTN 1 7 Claire Chauveau
00058429 - PubMed: Ohlsson 2012 4-generation family, 5 affecteds (3F, 2M) - no Sweden - - 0 - - HMERF TTN TTN 1 5 Claire Chauveau
00058438 - PubMed: Ohlsson 2012 2-generation family, 2 affected (F, M) - no Sweden - - 0 - - HMERF TTN TTN 1 2 Johan den Dunnen
00058439 - PubMed: Ohlsson 2012 2-generation family, 2 affected (F, M) - no Sweden - - 0 - - HMERF TTN TTN 1 2 Johan den Dunnen
00058440 - PubMed: Palmio 2014 3-generation family, 10 affecteds (2F, 8M) - no Finland Caucasian - 0 - - HMERF TTN TTN 1 10 Johan den Dunnen
00058441 - PubMed: Palmio 2014 4-generation family, 14 affecteds (7F, 7M) - no Sweden Caucasian - 0 - - HMERF TTN TTN 1 14 Johan den Dunnen
00058442 - PubMed: Palmio 2014 4-generation family, 11 affecteds (6F, 5M) - no Sweden Caucasian - 0 - - HMERF TTN TTN 1 11 Johan den Dunnen
00058443 - PubMed: Palmio 2014 2-generation family, 1 affected - no United Kingdom (Great Britain) Caucasian - 0 - - HMERF TTN TTN 1 1 Johan den Dunnen
00058444 - PubMed: Palmio 2014 2-generation family, 1 affected - no Italy Caucasian - 0 - - HMERF TTN TTN 1 1 Johan den Dunnen
00058445 - PubMed: Palmio 2014 3-generation family, 2 affecteds (F, M) - no Argentina Caucasian, Italian - 0 - - HMERF TTN TTN 1 2 Johan den Dunnen
00058446 - PubMed: Palmio 2014 2-generation family, 1 affected, unaffected carrier parents - no Italy - - 0 - - HMERF TTN TTN 2 3 Johan den Dunnen
00058447 - PubMed: Palmio 2014 2-generation family, 1 affected, unaffected carrier parents M yes France Portugese - 0 - - HMERF TTN TTN 2 3 Johan den Dunnen
00058448 - PubMed: Palmio 2014 2-generation family, 2 affecteds (F, M) - no France Portugese - 0 - - HMERF TTN TTN 1 2 Johan den Dunnen
00058449 - PubMed: Pfeffer 2012 4-generation family, 9 affecteds (4F, 5M) - no United Kingdom (Great Britain) - - 0 - - HMERF TTN TTN 1 9 Johan den Dunnen
00058450 - PubMed: Pfeffer 2012 3-generation family, 3 affecteds (F, 2M) - no United Kingdom (Great Britain) - - 0 - - HMERF TTN TTN 1 3 Johan den Dunnen
00058451 - PubMed: Toro 2013 3-generation family, 1 affected; father, paternal uncle and aunt had similar phenotype, died in 40s F no Canada American, Indian, East - 0 - - HMERF TTN TTN 1 1 Johan den Dunnen
00058452 - PubMed: Toro 2013, Journal: Toro 2013 2-generation family, 1 affected; probably affected mother F no Spain - - 0 - - HMERF TTN TTN 1 1 Johan den Dunnen
00064623 - PubMed: Pfeffer 2012 4-generation family, 9 affecteds (4F, 5M) M;F no United Kingdom (Great Britain) - - 0 - - HMERF TTN TTN 1 9 Johan den Dunnen
00064624 - PubMed: Pfeffer 2012 3-generation family, 3 affecteds (1F, 2M) M;F no United Kingdom (Great Britain) - - 0 - - HMERF TTN TTN 1 3 Johan den Dunnen
Legend