Hyperferritinemia With Or Without Cataract; Hrftc

Table of contents:

Description
Related genes
Clinical Features
Incidence and onset information
Alternative Names
Researches and researchers
Gene Panels
Sources and references

Genes related to Hyperferritinemia With Or Without Cataract; Hrftc

View recommended genes panels

Clinical Features

Top most frequent phenotypes and symptoms related to Hyperferritinemia With Or Without Cataract; Hrftc

Intellectual disability
Short stature
Hearing impairment
Microcephaly
Hypertelorism
Micrognathia
Strabismus
Cleft palate
Cataract
Cryptorchidism

And another 32 symptoms. If you need more information about this disease we can help you.

Click here to know more about Mendelian.

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

Hyperferritinemia With Or Without Cataract; Hrftc Is also known as hyperferritinemia-cataract syndrome, hyperferritinemia, hereditary, with congenital cataracts, hhcs.

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.

Hyperferritinemia With Or Without Cataract; Hrftc 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 Panel complete gene list SCP2, SGCE, SLC20A2, SLC2A1, SLC6A3, SNCA, SPR, SQSTM1, SUCLA2, SUOX, TAF1, TH, TIMM8A, TREX1, MCOLN1, VPS35, FBXO7, CACNA1A, NPC2, PINK1, PANK2, SAMHD1, APTX, SLC19A3, PARK7, TRIM32, TPK1, TREM2, ARX, RNASEH2A, LRRK2, VPS13A, L2HGDH, THAP1, FA2H, PDHX, ADAR, CP, RNASEH2C, CSF1R, CHMP2B, MMADHC, C19orf12, RNASEH2B, DCAF17, CYP27A1, FOXRED1, DCTN1, DDC, WDR45, DLAT, FASTKD2, EARS2, ATP13A2, DRD2, DRD5, PRRT2, SLC46A1, TOR1A, AFG3L2, SDHAF1, ERCC6, FOXG1, FTL, FUCA1, GAMT, GBA, GCDH, GCH1, MR1, HPRT1, AP1S2, KCNQ2, MAPT, MAT1A, ARSA, MPV17, ATM, ATP1A2, ATP1A3, PRKN, ATP7B, KIF1A, AUH, PLA2G6, PLP1, PNKD, POLG, PSEN1, PTEN, PTS, QDPR 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 %

You can get up to 82 more panels with our dedicated tool

Learn more

Sources and references

You can check the following sources for additional information.

OMIM Genetic Syndrome Finder

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like PARKINSON DISEASE 18, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO; PARK18 WOLF-HIRSCHHORN SYNDROME CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC, 1; BRIC1 FISH-EYE DISEASE; FED CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT SYNDROME WITH OR WITHOUT HEARING LOSS, ABNORMAL EARS, OR DEVELOPMENTAL DELAY; CAKUTHED MENTAL RETARDATION, AUTOSOMAL DOMINANT 18; MRD18 SOTOS SYNDROME 1; SOTOS1