Disease #01024 (HRFTC (hyperferritinemia-cataract syndrome), OMIM:600886)

Official abbreviation HRFTC
Name hyperferritinemia-cataract syndrome
OMIM ID 600886
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal dominant
Individuals reported having this disease 12
Phenotype entries for this disease 12
Associated with 1 gene FTL
Associated tissues -
Disease features -
Remarks -
Date created 2014-09-25 23:29:40 +02:00 (CEST)
Date last edited 2023-08-04 19:34:12 +02:00 (CEST)


Individuals

12 entries on 1 page. Showing entries 1 - 12.
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00024994 - PubMed: Del Castillo-Rueda 2011 - - - Spain - - - - - HRFTC see paper, in Spanish FTL FTL 1 1 Johan den Dunnen
00024995 - PubMed: Beaumont 1995 3-generation family - - France - - - - - HRFTC 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) FTL FTL 1 1 Johan den Dunnen
00024996 - PubMed: Aguilar-Martinez 1996 2-generation family, affected boy and father M no France - - - - - HRFTC 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) FTL FTL 1 2 Johan den Dunnen
00024997 - PubMed: McLeod 2002 5-generation family, 11 affecteds (5F, 6M) - - Australia - - - - - HRFTC see paper; all members abnormally elevated serum ferritin levels, bilateral cataract (except V4 14y only single fleck one lens) FTL FTL 1 11 Johan den Dunnen
00024998 - PubMed: McLeod 2002 3-generation family, 2 affecteds (father/son) M - Australia Italian - - - - HRFTC see paper; bilateral cataracts, hyperferritinaemia FTL FTL 1 2 Johan den Dunnen
00024999 - PubMed: McLeod 2002 3-generation family, 1 affected M - Australia - - - - - HRFTC 2y-bilateral cataracts, lens morphology suggestive of HHCS; blood serum ferritin level 1554 ug/l FTL FTL 1 1 Johan den Dunnen
00025000 - PubMed: Girelli 1995 2-generation family, 3 affecteds (father and son/daugther) - - Italy - - - - - HRFTC see paper; congenital bilateral nuclear cataract, serum ferritin 950-2,259 ug/L FTL FTL 1 3 Johan den Dunnen
00025001 - PubMed: Cazzola 1997, PubMed: Girelli 1995 4-generation family, 8 affecteds (4F, 4M) - - Italy - - - - - HRFTC see paper; elevated serum ferritin not related to iron overload, congenital nuclear cataract FTL FTL 1 8 Johan den Dunnen
00025002 - PubMed: Cazzola 1997 3-generation family, 3 affecteds (grandfather and 2 grandduagthers) - - Italy - - - - - HRFTC see paper FTL FTL 2 3 Johan den Dunnen
00025003 - PubMed: Shekunov 2011 large multigeneration family, 28 affecteds - - United States German - - - - HRFTC see papers; 22 subjects early-onset cataracts and hyperferritinemia FTL FTL 1 28 Johan den Dunnen
00025004 - PubMed: Shekunov 2011 large multi-generation family, 25 affecteds - - United States British, German/Austrian - - - - HRFTC see paper; 9 subjects early-onset cataracts and hyperferritinemia FTL FTL 1 25 Johan den Dunnen
00025005 - PubMed: Girelli 1997, PubMed: Girelli 2001 4-generation family, 6 affecteds (3F, 3M) - - Italy - - - - - HRFTC see paper; congenital bilateral cataract, visual symptoms evident during infancy, glare and slowly progressive loss in visual acuity FTL FTL 1 6 Johan den Dunnen
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