Details of Disease

General Information of Disease (ID: DISGL689)

Disease Name Hereditary hyperferritinemia with congenital cataracts
Synonyms
cataract-hyperferritinemia syndrome; HRFTC; hyperferritinemia, hereditary, with congenital cataracts; hereditary hyperferritinemia cataract syndrome; hyperferritinemia with or without cataract; hyperferritinemia-cataract syndrome; hyperferritinemia cataract syndrome; HHCS; Hyperferritinemia Cataract Syndrome; hereditary hyperferritinemia-cataract syndrome; Bonneau-Beaumont syndrome
Definition
Hereditary hyperferritinemia with congenital cataracts is characterized by the association of early onset (although generally absent at birth) cataract with persistently raised plasma ferritin concentrations in the absence of iron overload.
Disease Hierarchy
DISB52BH: Eye disorder
DISYKSRF: Genetic disease
DISGL689: Hereditary hyperferritinemia with congenital cataracts
Disease Identifiers
MONDO ID
MONDO_0010952
MESH ID
C538137
UMLS CUI
C1833213
OMIM ID
600886
MedGen ID
318812
Orphanet ID
163
SNOMED CT ID
702398007

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 7 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
ACO1 OT2VUR7L Strong Genetic Variation [1]
CYCS OTBFALJD Strong Altered Expression [1]
GCNT2 OTRUIMC4 Strong Genetic Variation [2]
HLCS OTPDUX30 Strong Altered Expression [1]
IREB2 OT747D24 Strong Genetic Variation [1]
TBC1D2 OTSGHPD0 Strong Genetic Variation [3]
FTL OTYQA8A6 Definitive Autosomal dominant [4]
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⏷ Show the Full List of 7 DOT(s)

References

1 A case report of spontaneous mutation (C33>U) in the iron-responsive element of L-ferritin causing hyperferritinemia-cataract syndrome.Blood Cells Mol Dis. 2010 Jan 15;44(1):22-7. doi: 10.1016/j.bcmd.2009.09.003. Epub 2009 Oct 2.
2 Hematologic biomarkers in childhood cataracts.Mol Vis. 2011 Apr 24;17:1011-5.
3 Analysis of ferritins in lymphoblastoid cell lines and in the lens of subjects with hereditary hyperferritinemia-cataract syndrome.Blood. 1998 Jun 1;91(11):4180-7.
4 A new missense mutation in the L ferritin coding sequence associated with elevated levels of glycosylated ferritin in serum and absence of iron overload. Haematologica. 2009 Mar;94(3):335-9. doi: 10.3324/haematol.2008.000125. Epub 2009 Jan 27.