Phenotypes for disease #01024

12 entries on 1 page. Showing entries 1 - 12.
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AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

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Age/Examination     

Age/Diagnosis     

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Individual ID     
0000021114 see paper, in Spanish - - Unknown - - - - - Johan den Dunnen 00024994
0000021115 hyperferritinemia, cataract; early-onset bilateral cataract, slit-lamp examination demonstrated lens deposits of dust-like spots (pulverulent cataract); elevated circulating ferritin levels; genetic hemochromatosis excluded by liver biopsy (no iron overload but hepatocytes heavy lipofuscin pigment deposit) - - Familial, autosomal dominant - - - - - Johan den Dunnen 00024995
0000021116 hyperferritinemia (1,000 wg/L), no evidence iron overload (serum iron/transferrin saturation normal; blood cell counts and acute phase reactant normal; hereditary cataract (incl. father, grandfather); father hyperfemtinemia (780,ug/L) - - Familial, autosomal dominant 08y - - - - Johan den Dunnen 00024996
0000021117 see paper; all members abnormally elevated serum ferritin levels, bilateral cataract (except V4 14y only single fleck one lens) - - Familial, autosomal dominant - - - - - Johan den Dunnen 00024997
0000021118 see paper; bilateral cataracts, hyperferritinaemia - - Familial, autosomal dominant - - - - - Johan den Dunnen 00024998
0000021119 2y-bilateral cataracts, lens morphology suggestive of HHCS; blood serum ferritin level 1554 ug/l - - Isolated (sporadic) 08y - - - - Johan den Dunnen 00024999
0000021120 see paper; congenital bilateral nuclear cataract, serum ferritin 950-2,259 ug/L - - Familial, autosomal dominant - - - - - Johan den Dunnen 00025000
0000021121 see paper; elevated serum ferritin not related to iron overload, congenital nuclear cataract - - Familial, autosomal dominant - - - - - Johan den Dunnen 00025001
0000021122 see paper - - Familial, autosomal dominant - - - - - Johan den Dunnen 00025002
0000021123 see papers; 22 subjects early-onset cataracts and hyperferritinemia - - Familial, autosomal dominant - - - - - Johan den Dunnen 00025003
0000021124 see paper; 9 subjects early-onset cataracts and hyperferritinemia - - Familial, autosomal dominant - - - - - Johan den Dunnen 00025004
0000021125 see paper; congenital bilateral cataract, visual symptoms evident during infancy, glare and slowly progressive loss in visual acuity - - Familial, autosomal dominant - - - - - Johan den Dunnen 00025005
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