Phenotypes for disease #05105 (IBM (myopathy, inclusion body (IBM)))

54 entries on 1 page. Showing entries 1 - 54.
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AscendingPhenotype ID     
Phenotype details     
Diagnosis/Initial     
Diagnosis/Definite     
Inheritance     
Age/Examination     
Age/Diagnosis     
Age/Onset     
Phenotype/Onset     
Protein     
Owner     
Individual ID     
0000042812 - - - Unknown - - - - - Johan den Dunnen 00056174
0000042862 - - - Unknown - - - - - Tom Winder 00056224
0000042863 - - - Unknown - - - - - Tom Winder 00056225
0000042864 slowly progressive distal weakness; EMG myopathic; CPK mildly elevated - - Unknown - - - - - Tom Winder 00056226
0000042872 myopathy, inclusion body, hereditary (HIBM); walk - - Familial, autosomal recessive - - 24y - - Johan den Dunnen 00056234
0000042873 myopathy, inclusion body, hereditary (HIBM); lost ability walk 38y - - Familial, autosomal recessive - - 23y - - Johan den Dunnen 00056235
0000042874 myopathy, inclusion body, hereditary (HIBM); lost ability walk 48y - - Familial, autosomal recessive - - 26y - - Johan den Dunnen 00056236
0000042875 myopathy, inclusion body, hereditary (HIBM); 35y-walk crutches, lost ability walk >35y - - Familial, autosomal recessive - - 29y - - Johan den Dunnen 00056237
0000042876 myopathy, inclusion body, hereditary (HIBM); lost ability walk 37y - - Familial, autosomal recessive - - 24y - - Johan den Dunnen 00056238
0000042877 myopathy, inclusion body, hereditary (HIBM); lost ability walk 40y - - Familial, autosomal recessive - - 31y - - Johan den Dunnen 00056239
0000042878 myopathy, inclusion body, hereditary (HIBM); lost ability walk 33y - - Familial, autosomal recessive - - 25y - - Johan den Dunnen 00056240
0000042879 myopathy, inclusion body, hereditary (HIBM); lost ability walk 45y - - Familial, autosomal recessive - - 30y - - Johan den Dunnen 00056241
0000042880 myopathy, inclusion body, hereditary (HIBM); 34y-walk cane, lost ability walk >34y - - Familial, autosomal recessive - - 27y - - Johan den Dunnen 00056242
0000042881 myopathy, inclusion body, hereditary (HIBM); lost ability walk 40y - - Familial, autosomal recessive - - 34y - - Johan den Dunnen 00056243
0000042882 myopathy, inclusion body, hereditary (HIBM); lost ability walk 35y - - Familial, autosomal recessive - - 28y - - Johan den Dunnen 00056244
0000042883 myopathy, inclusion body, hereditary (HIBM); lost ability walk 36y - - Familial, autosomal recessive - - 24y - - Johan den Dunnen 00056245
0000042884 myopathy, inclusion body, hereditary (HIBM); lost ability walk 40y - - Familial, autosomal recessive - - 26y - - Johan den Dunnen 00056246
0000042885 myopathy, inclusion body, hereditary (HIBM); lost ability walk 39y - - Familial, autosomal recessive - - 30y - - Johan den Dunnen 00056247
0000042886 myopathy, inclusion body, hereditary (HIBM); lost ability walk 46y - - Familial, autosomal recessive - - 33y - - Johan den Dunnen 00056248
0000042887 myopathy, inclusion body, hereditary (HIBM); lost ability walk 50y - - Familial, autosomal recessive - - 30y - - Johan den Dunnen 00056249
0000042888 myopathy, inclusion body, hereditary (HIBM); lost ability walk 40y - - Familial, autosomal recessive - - 28y - - Johan den Dunnen 00056250
0000042889 myopathy, inclusion body, hereditary (HIBM); walk - - Familial, autosomal recessive - - 22y - - Johan den Dunnen 00056251
0000042890 myopathy, inclusion body, hereditary (HIBM); lost ability walk 30y - - Familial, autosomal recessive - - 22y - - Johan den Dunnen 00056252
0000042891 myopathy, inclusion body, hereditary (HIBM); lost ability walk 60y - - Familial, autosomal recessive - - 48y - - Johan den Dunnen 00056253
0000042892 myopathy, inclusion body, hereditary (HIBM); lost ability walk 35y - - Familial, autosomal recessive - - 24y - - Johan den Dunnen 00056254
0000042893 myopathy, inclusion body, hereditary (HIBM); lost ability walk 48y - - Familial, autosomal recessive - - 30y - - Johan den Dunnen 00056255
0000042894 myopathy, inclusion body, hereditary (HIBM); 53y-walk cane, lost ability walk >53y - - Familial, autosomal recessive - - 41y - - Johan den Dunnen 00056256
0000042895 myopathy, inclusion body, hereditary (HIBM); 49y-walk cane, lost ability walk >49y - - Familial, autosomal recessive - - 42y - - Johan den Dunnen 00056257
0000042896 myopathy, inclusion body, hereditary (HIBM); walk difficulty - - Familial, autosomal recessive - - 46y - - Johan den Dunnen 00056258
0000042897 myopathy, inclusion body, hereditary (HIBM); walk difficulty - - Familial, autosomal recessive - - 26y - - Johan den Dunnen 00056259
0000042898 myopathy, inclusion body, hereditary (HIBM); walk difficulty - - Familial, autosomal recessive - - 21y - - Johan den Dunnen 00056260
0000042899 myopathy, inclusion body, hereditary (HIBM); 70y-walk cane, lost ability walk >70y - - Familial, autosomal recessive - - 59y - - Johan den Dunnen 00056261
0000042900 myopathy, inclusion body, hereditary (HIBM); walk - - Familial, autosomal recessive - - 35y - - Johan den Dunnen 00056262
0000042909 history immune thrombocytopenic purpura (HP:0001973, like elder brother), hypothyroidism (HP:0000821); bilateral foot drop (HP:0009027), positive Gower's sign (HP:0003391), significant weakness lower extremities (HP:0007340), muscle testing 5/5 strength quadriceps, 3/5 other proximal/distal muscles lower extremities, 4/5 upper extremities proximal muscles, 5/5 flexor pollicise lunges, 2/5 flexor digit rum profoundus, intact sensation and cranial nerve; EMG left biceps/deltoid muscles normal motor unit interference pattern, low amplitude, short duration motor unit action potential without abnormal spontaneous activity. Left tibialis anterior revealed a few polyphasic motor unit action potentials, nerve conduction in normal limits; CPK increased 347 IU/L (32-267) (HP:0003236); biopsy muscle rimmed vacuolar myopathy (HP:0003805), no inflammatory infiltrate - - Isolated (sporadic) 48y - 28y weakness lower extremities, progressed gradually to upper limbs - Johan den Dunnen 00056271
0000085337 inclusion body myopathy, Paget disease (HP:0030441) - - Familial, autosomal dominant - - - - - Gisela Nogales 00105225
0000119180 - - - Unknown - - - - - Tom Winder 00146440
0000119181 - - - Unknown - - - - - Tom Winder 00146441
0000119182 distal>proximal weakness; non-inflammatory IBM; myopathic EMG; CPK normal - - Familial, autosomal dominant - - - - - Tom Winder 00146442
0000153589 walks hereditary inclusion body myopathy - Familial, autosomal recessive - - 24y - - Johan den Dunnen 00205405
0000153590 48y-lost ability to walk (HP:0006957) hereditary inclusion body myopathy - Familial, autosomal recessive - - 26y - - Johan den Dunnen 00205406
0000153602 walks hereditary inclusion body myopathy - Familial, autosomal recessive - - 22y - - Johan den Dunnen 00205418
0000153603 35y-lost ability to walk (HP:0006957) hereditary inclusion body myopathy - Familial, autosomal recessive - - 24y - - Johan den Dunnen 00205419
0000153604 40y-lost ability to walk (HP:0006957) hereditary inclusion body myopathy - Familial, autosomal recessive - - 31y - - Johan den Dunnen 00205420
0000158631 - 66y - Unknown - - - - - Nirmal Vadgama 00210057
0000220134 - inclusion body myositis - Unknown - - - - - Els Vanhoutte 00286277
0000220146 - inclusion body myositis - Unknown - - - - - Els Vanhoutte 00286289
0000220148 - inclusion body myositis - Unknown - - - - - Els Vanhoutte 00286291
0000220158 - inclusion body myositis - Unknown - - - - - Els Vanhoutte 00286301
0000220184 - inclusion body myositis - Unknown - - - - - Els Vanhoutte 00286327
0000220243 - inclusion body myositis - Unknown - - - - - Els Vanhoutte 00286386
0000220269 - inclusion body myositis - Unknown - - - - - Els Vanhoutte 00286412
0000231723 16 year old patient with hyperChemia 933 U/l, scoliosis (mild), indirect hyperbilirubinemia (2.2 mg/dl); HPO: Scoliosis , Elevated serum creatine kinase , Unconjugated hyperbilirubinemia - - Unknown 16y - - - - Andreas Laner 00305877
0000295181 - LGMW IBM Familial, autosomal dominant 62y 66y 55y LGMW - JA Bevilacqua 00402417
0000308245 - - - Familial, autosomal dominant - - - - - JA Bevilacqua 00416525
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