Genetic Hyperferritinemia Without Iron Overload

Description

Genetic hyperferritinemia without iron overload is a rare biological anomaly defined as high serum ferritin levels without elevations of transferrin saturation, tissue or serum iron and characterized by an apparently asymptomatic clinical phenotype.

Clinical Features

Phenotypes and symptoms related to Genetic Hyperferritinemia Without Iron Overload

  • Cataract
  • Fatigue
  • Arthralgia
  • Increased serum ferritin
  • Fragile nails
  • Elevated hepatic iron concentration
  • Abnormal transferrin saturation
  • Abnormal serum iron

Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
No data available about the known clinical features onset.

Alternative names

Genetic Hyperferritinemia Without Iron Overload Is also known as benign hyperferritinemia.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.


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Genetic Hyperferritinemia Without Iron Overload Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Neuroferritinopathy, FLT, Sequencing.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States).

FTL
Specificity
100 %
Genes
100 %
Neurodegeneration with Brain Iron Accumulation (NBIA) Panel, Sequencing.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States).

SQSTM1, PANK2, TRIM32, FA2H, CP, C19orf12, DCAF17, WDR45, COASY, ATP13A2, FTL, FUCA1, KIF1A, PLA2G6
Specificity
8 %
Genes
100 %
Movement Disorders Panel.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States).

SCP2, SGCE, SLC20A2, SLC2A1, SLC6A3, SNCA, SPR, SQSTM1, SUCLA2, SUOX, TAF1, TH, TIMM8A, TREX1, MCOLN1, VPS35, FBXO7, CACNA1A, NPC2, PINK1 , (...)

View the complete list with 72 more genes
Specificity
2 %
Genes
100 %
Neurodegeneration with Brain Iron Accumulation (NBIA) Panel, Sequencing and Deletion/Duplication.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States).

SQSTM1, PANK2, TRIM32, FA2H, CP, C19orf12, DCAF17, WDR45, COASY, ATP13A2, FTL, FUCA1, KIF1A, PLA2G6
Specificity
8 %
Genes
100 %
Neurodegeneration with Brain Iron Accumulation (NBIA) Panel, Deletion/Duplication.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States).

SQSTM1, PANK2, TRIM32, FA2H, CP, C19orf12, DCAF17, WDR45, COASY, ATP13A2, FTL, FUCA1, KIF1A, PLA2G6
Specificity
8 %
Genes
100 %
FTL Sequencing.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States).

FTL
Specificity
100 %
Genes
100 %
NBIA Deletion/Duplication Analysis.

By Genetic Services Laboratory University of Chicago (United States).

PANK2, FA2H, CP, C19orf12, DCAF17, WDR45, COASY, ATP13A2, FTL, PLA2G6
Specificity
10 %
Genes
100 %
NBIA Sequencing Panel.

By Genetic Services Laboratory University of Chicago (United States).

PANK2, FA2H, CP, C19orf12, DCAF17, WDR45, COASY, ATP13A2, FTL, PLA2G6
Specificity
10 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

ORPHANET Genetic Syndrome Finder

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