Disease #02311 (IBM-2 (myopathy, inclusion body, type 2 (IBM-2)))

Official abbreviation IBM-2
Name myopathy, inclusion body, type 2 (IBM-2)
OMIM ID -
Inheritance -
Individuals reported having this disease 66
Phenotype entries for this disease 66
Associated with 1 gene GNE
Associated tissues -
Disease features -
Remarks -


Individuals

66 entries on 1 page. Showing entries 1 - 66.
Legend   How to query  

AscendingIndividual ID     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Disease     

Phenotype details     

Genes screened

Variants in genes

Variants     

Panel size     

Owner     
00056066 - - - F - United States - - 0 - - IBM-2 - GNE GNE 2 1 Tom Winder
00056071 - - 3-generation family, 6 affecteds (4F, 2M) - - Iran Jewish - 0 - - IBM-2 - GNE GNE 2 6 Johan den Dunnen
00056072 - - 49 families, 118 affecteds - - - Middle East, Jewish - 0 - - IBM-2 - GNE GNE 2 118 Johan den Dunnen
00056074 - - 2-generation family, 4 affecteds (2F, 2M) - - Bahamas - - 0 - - IBM-2 - GNE GNE 2 5 Johan den Dunnen
00056075 - - 2-generation family, 4 affecteds (3F, M) - - United States - - 0 - - IBM-2 - GNE GNE 2 5 Johan den Dunnen
00056076 - - 2-generation family, 2 affecteds (F, M) - - India - - 0 - - IBM-2 rimmed vacuoles, inclusion bodies; GNE GNE 2 3 Johan den Dunnen
00056077 - - - - - Iraq jewish - 0 - - IBM-2 - GNE GNE 2 1 Johan den Dunnen
00056078 - - - - - Afghanistan jewish - 0 - - IBM-2 - GNE GNE 2 1 Johan den Dunnen
00056079 - - - - - Uzbekistan jewish - 0 - - IBM-2 - GNE GNE 2 1 Johan den Dunnen
00056080 - - - - - Egypt jewish - 0 - - IBM-2 - GNE GNE 2 1 Johan den Dunnen
00056081 - - - - - - Middle East, Kurdish - 0 - - IBM-2 - GNE GNE 2 1 Johan den Dunnen
00056082 - - family, 3 affecteds - - - Middle East, Bedouin - 0 - - IBM-2 - GNE GNE 2 3 Johan den Dunnen
00056083 - - family, 2 affecteds - - Palestine Middle East, Palestinian - 0 - - IBM-2 - GNE GNE 2 3 Johan den Dunnen
00056084 - - - - - United States - - 0 - - IBM-2 rimmed vacuoles, inclusion bodies; GNE GNE 2 2 Johan den Dunnen
00056085 - - - - - United States - - 0 - - IBM-2 rimmed vacuoles; GNE GNE 2 2 Johan den Dunnen
00056086 - - family, 2 affecteds - - Germany - - 0 - - IBM-2 rimmed vacuoles; GNE GNE 2 3 Johan den Dunnen
00056087 - - - - - Italy - - 0 - - IBM-2 rimmed vacuoles, lobulated fibers; GNE GNE 2 2 Johan den Dunnen
00056088 - - - - - Italy - - 0 - - IBM-2 rimmed vacuoles, inclusion bodies; GNE GNE 2 2 Johan den Dunnen
00056089 - - family, 2 affecteds - - Ireland - - 0 - - IBM-2 lobulated fibers (quadriceps only); GNE GNE 2 3 Johan den Dunnen
00056102 - - 2-generation family, 2 affected females F - United States - - 0 - - IBM-2 - GNE GNE 2 2 Johan den Dunnen
00056103 - PubMed: Gotlieb 2005 2-generation family, affected female, unaffected carrier parents; 16112887-Pat29 F - United States - - 0 - - IBM-2 28y-walk crutches, lost ability walk >28y GNE GNE 2 2 Johan den Dunnen
00056104 - - 2-generation family, 1 affected ? - (United States) Iran, non-Jewish - 0 - - IBM-2 - GNE GNE 2 2 Johan den Dunnen
00056105 - - 2-generation family, 1 affected ? - (United States) Iran, non-Jewish - 0 - - IBM-2 - GNE GNE 2 2 Johan den Dunnen
00056106 - PubMed: Gotlieb 2005 2-generation family, 2 affecteds (F, M) ? - United States Jewish >38y 0 - - IBM-2 myopathy, inclusion body, type 1, quadriceps sparing; lost ability walk 35y GNE GNE 2 3 Johan den Dunnen
00056107 - - 4-generation family, 2 affected females F - Italy - - 0 - - IBM-2 myopathy, inclusion body, type 1, quadriceps sparing; GNE GNE 2 2 Johan den Dunnen
00056109 - - 4-generation family, 2 affected females F - Italy - - 0 - - IBM-2 - GNE GNE 2 2 Johan den Dunnen
00056110 - - 2-generation family, 2 affected females F - Italy - >33y 0 - - IBM-2 - GNE GNE 2 2 Johan den Dunnen
00056111 - - 2-generation family, 2 affected females F - Italy - >28y 0 - - IBM-2 - GNE GNE 2 1 Johan den Dunnen
00056114 - - family, 2 siblings ? - Netherlands - - 0 - - IBM-2 - GNE GNE 2 1 Johan den Dunnen
00056115 - - family, 2 siblings ? - Netherlands - - 0 - - IBM-2 - GNE GNE 2 1 Johan den Dunnen
00056116 - - - M yes Iran - >34y 0 - - IBM-2 myopathy, inclusion body, type 1, quadriceps sparing; GNE GNE 2 1 Johan den Dunnen
00056118 - - - F - United States - - 0 - - IBM-2 myopathy, inclusion body, type 1, quadriceps sparing; GNE GNE 2 1 Johan den Dunnen
00056119 - - - F - India Asian - 0 - - IBM-2 - GNE GNE 2 1 Johan den Dunnen
00056120 - - - F - India - - 0 - - IBM-2 - GNE GNE 2 1 Johan den Dunnen
00056121 - - - F - Greece - - 0 - - IBM-2 - GNE GNE 2 1 Johan den Dunnen
00056143 - - - M - Italy - >55y 0 - - IBM-2 - GNE GNE 2 1 Johan den Dunnen
00056144 - - - F - Italy - >48y 0 - - IBM-2 - GNE GNE 2 1 Johan den Dunnen
00056145 - - - F - Italy - >42y 0 - - IBM-2 - GNE GNE 2 1 Johan den Dunnen
00056146 - - - M - Italy - >18y 0 - - IBM-2 - GNE GNE 2 1 Johan den Dunnen
00056147 - - - F - Italy - >25y 0 - - IBM-2 - GNE GNE 2 1 Johan den Dunnen
00056148 - - - F - Italy - >49y 0 - - IBM-2 - GNE GNE 2 1 Johan den Dunnen
00056149 - - - F - Italy - >37y 0 - - IBM-2 - GNE GNE 2 1 Johan den Dunnen
00056150 - - - F - Italy - >34y 0 - - IBM-2 - GNE GNE 2 1 Johan den Dunnen
00056151 - - 4-generation family, 4 affecteds M - Tunisia - - 0 - - IBM-2 - GNE GNE 2 1 Johan den Dunnen
00056152 - - 4-generation family, 4 affecteds F - Tunisia - - 0 - - IBM-2 - GNE GNE 2 1 Johan den Dunnen
00056153 - - 4-generation family, 4 affecteds M - Tunisia - - 0 - - IBM-2 - GNE GNE 2 1 Johan den Dunnen
00056154 - - 4-generation family, 4 affecteds M - Tunisia - - 0 - - IBM-2 - GNE GNE 2 1 Johan den Dunnen
00056155 - - 4-generation family, 4 affecteds F - Tunisia Tunisian - 0 - - IBM-2 - GNE GNE 2 1 Johan den Dunnen
00056156 - - 4-generation family, 4 affecteds F - Tunisia Tunisian - 0 - - IBM-2 - GNE GNE 2 1 Johan den Dunnen
00056157 - - 4-generation family, 4 affecteds F - Tunisia Tunisian - 0 - - IBM-2 - GNE GNE 2 1 Johan den Dunnen
00056158 - - 4-generation family, 4 affecteds M - Tunisia Tunisian - 0 - - IBM-2 - GNE GNE 2 1 Johan den Dunnen
00056173 - - - M - Japan - >31y 0 - - IBM-2 CPK 2224 GNE GNE 2 2 Johan den Dunnen
00056175 - PubMed: Gotlieb 2005 16112887-Pat32 F - United States - >33y 0 - - IBM-2 walk GNE GNE 2 1 Johan den Dunnen
00056176 - - - M - Italy - >22y 0 - - IBM-2 - GNE GNE 2 1 Johan den Dunnen
00056177 - - consanguineous parents, 1st cousins F yes Egypt - >29y 0 - - IBM-2 - GNE GNE 2 1 Johan den Dunnen
00056184 - PubMed: Saechao 2010 - F - United States Caucasian - 0 - - IBM-2 - GNE GNE 2 1 Johan den Dunnen
00056185 - PubMed: Saechao 2010 - F - United States Caucasian - 0 - - IBM-2 - GNE GNE 2 1 Johan den Dunnen
00056186 - PubMed: Saechao 2010 - F - United States Caucasian - 0 - - IBM-2 - GNE GNE 2 1 Johan den Dunnen
00056187 - PubMed: Saechao 2010 - F - United States Caucasian - 0 - - IBM-2 - GNE GNE 2 1 Johan den Dunnen
00056188 - PubMed: Saechao 2010 - F - India Asian - 0 - - IBM-2 - GNE GNE 2 1 Johan den Dunnen
00056189 - PubMed: Saechao 2010 - M - Taiwan - - 0 - - IBM-2 - GNE GNE 2 1 Johan den Dunnen
00056190 - PubMed: Saechao 2010 - F - United States Caucasian - 0 - - IBM-2 - GNE GNE 2 1 Johan den Dunnen
00056191 - PubMed: Saechao 2010 - F - United States Caucasian - 0 - - IBM-2 - GNE GNE 3 1 Johan den Dunnen
00056192 - PubMed: Saechao 2010 - F - United States European - 0 - - IBM-2 - GNE GNE 2 1 Johan den Dunnen
00056193 - PubMed: Stober 2010 2-generation family, 2 affected sisters F - Italy - >25y 0 - - IBM-2 lost ability walk 34y GNE GNE 2 2 Johan den Dunnen
00056194 - PubMed: Stober 2010 2-generation family, 2 affected sisters F - Italy - >34y 0 - - IBM-2 - GNE GNE 2 1 Johan den Dunnen
Legend   How to query