Hemochromatosis, Type 4; Hfe4

Description

Hemochromatosis type 4 (also called ferroportin disease) is a form of rare hereditary hemochromatosis (HH; see this term), a group of diseases characterized by excessive tissue iron deposition of genetic origin.

Genes related to Hemochromatosis, Type 4; Hfe4

SLC40A1

Clinical Features

Top most frequent phenotypes and symptoms related to Hemochromatosis, Type 4; Hfe4

Cataract
Anemia
Pain
Cardiomyopathy
Arrhythmia
Fatigue
Abdominal pain
Arthritis
Arthralgia
Hepatic steatosis

And another 11 symptoms. If you need more information about this disease we can help you.

Click here to know more about Mendelian.

Incidence and onset information

— Not enough data available about incidence and published cases.

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Hemochromatosis, Type 4; Hfe4 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
SLC40A1 Sequencing. By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States. SLC40A1 Specificity 100 % Genes 100 %
Hyperferritinemia Panel. By Molecular Genetics Laboratory London Health Sciences Centre in Canada. HFE, ALAS2, SLC25A38, CDAN1, SEC23B, FTL, CP, SLC40A1, TFR2, HAMP, HJV, B2M, FTH1, STEAP3, TF Specificity 7 % Genes 100 %
SLC40A1. Complete sequencing. By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain. SLC40A1 Specificity 100 % Genes 100 %
Hereditary Hemochromatosis type 4 (sequence analysis of SLC40A1 gene). By CGC Genetics in Portugal. SLC40A1 Specificity 100 % Genes 100 %
Hemochromatosis (NGS panel for 8 genes). By CGC Genetics in Portugal. HFE, FTL, SLC40A1, TFR2, HAMP, HJV, FTH1, BMP2 Specificity 13 % Genes 100 %
Hemochromatosis (NGS panel for 8 genes). By CGC Genetics in Portugal. HFE, FTL, SLC40A1, TFR2, HAMP, HJV, FTH1, BMP2 Specificity 13 % Genes 100 %
Hereditary Hemochromatosis Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics in United States. HFE, FTL, SLC40A1, TFR2, HAMP, HJV, FTH1 Specificity 15 % Genes 100 %
Hereditary Hemochromatosis via the SLC40A1 Gene. By PreventionGenetics PreventionGenetics in United States. SLC40A1 Specificity 100 % Genes 100 %
Hemochromatosis. By Synlab MVZ Humane Genetik München Synlab MVZ Humane Genetik München in Germany. HFE, SLC40A1, TFR2, HAMP, HJV Specificity 20 % Genes 100 %
Hemochromatosis type 4. By Centogene AG - the Rare Disease Company in Germany. SLC40A1 Specificity 100 % Genes 100 %
SLC40A1-Related Hereditary Hemochromatosis. By Medical Genetics Laboratory Diagenom GmbH in Germany. SLC40A1 Specificity 100 % Genes 100 %
Genetic disorders with abnormal pigmentation Panel. By CeGaT GmbH in Germany. HFE, KRT5, ABCB6, BLM, PTPN11, NF2, STK11, NF1, EDN3, PAX3, EDNRB, SNAI2, SOX10, SPRED1, MITF, LYST, ADAR, KIT, KITLG, MYO5A , (...) View the complete list with 12 more genes Panel GTR000522378 complete gene list HFE, KRT5, ABCB6, BLM, PTPN11, NF2, STK11, NF1, EDN3, PAX3, EDNRB, SNAI2, SOX10, SPRED1, MITF, LYST, ADAR, KIT, KITLG, MYO5A, RAB27A, MLPH, KRT14, SLC40A1, EPG5, TFR2, HAMP, HJV, ENPP1, POGLUT1, POFUT1, ADAM10 Specificity 4 % Genes 100 %
Single gene testing SLC40A1. By CeGaT GmbH in Germany. SLC40A1 Specificity 100 % Genes 100 %
Haemochromatosis. By Laboratory of Human Genetics GENOMED Health Care Center in Poland. HFE, SLC40A1, TFR2, HAMP, HJV Specificity 20 % Genes 100 %
SLC40A1-Related Hereditary Hemochromatosis (Ferroportin disease). By MVZ Dortmund Dr. Eberhard & Partner in Germany. SLC40A1 Specificity 100 % Genes 100 %
Hemochromatosis. By Asper Biogene Asper Biogene LLC in Estonia. HFE, SLC40A1, TFR2, HAMP, HJV Specificity 20 % Genes 100 %
NGS Panel for Hemochromatosis and Hyperferritinemia /Hypoferritinemia Panel. By BLOODGENETICS BLOODGENETICS in Spain. HFE, FTL, SLC40A1, TFR2, HAMP, HJV, FTH1, ATP4A, BMP6 Specificity 12 % Genes 100 %
SLC40A1-Related Hereditary Hemochromatosis. By Clinical Genomics Maastricht University Medical Centre in Netherlands. SLC40A1 Specificity 100 % Genes 100 %
Invitae Hereditary Hemochromatosis Panel. By Invitae in United States. HFE, SLC40A1, TFR2, HAMP, HJV Specificity 20 % Genes 100 %
Hemochromatosis type 4, Hereditary: SLC40A1 gene sequence analysis. By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain. SLC40A1 Specificity 100 % Genes 100 %
SLC40A1. By Fulgent Genetics Fulgent Genetics in United States. SLC40A1 Specificity 100 % Genes 100 %
H-CHROMATON. By PentaCoreLab in Hungary. HFE, SLC40A1, HAMP, HJV Specificity 25 % Genes 100 %
Hereditary Hemochromatosis Panel. By Blueprint Genetics in Finland. HFE, SLC40A1, TFR2, HAMP, HJV Specificity 20 % Genes 100 %
Comprehensive Metabolism Panel. By Blueprint Genetics in Finland. HFE, MTHFR, MCCC1, MCCC2, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOA, ALDOB, FBP1, PC, GYS2, ARG1, HLCS, BTD, ATP7B , (...) View the complete list with 414 more genes Panel GTR000552745 complete gene list HFE, MTHFR, MCCC1, MCCC2, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOA, ALDOB, FBP1, PC, GYS2, ARG1, HLCS, BTD, ATP7B, AUH, BCKDHA, BCKDHB, BCS1L, TWNK, C12orf65, GAA, ADSL, HNF1A, MMACHC, PPARG, COL2A1, AMN, HNF1B, MTR, SLC37A4, SLC16A1, MTRR, AMACR, HSD17B4, CPS1, CPT2, OPA1, WFS1, PSAP, GNPTAB, GLB1, PRODH, ATP6V0A2, SRD5A3, GNE, HSD17B10, HPRT1, DLD, POLG, SLC25A4, GCK, FOXRED1, RRM2B, NDUFAF2, ALAS2, SLC25A13, MFN2, HADHA, OPA3, FH, SMPD1, COQ9, PDSS2, PDSS1, COQ6, DHODH, DDOST, LIAS, AGK, DNM1L, DGUOK, BOLA3, ACSF3, PDHB, TMEM70, DHDDS, SARS2, NFU1, PHKA2, FAH, HMGCL, TAT, PYGL, G6PC, IDH2, CAVIN1, PHKG2, TMEM126A, DPM3, PGM1, LDHA, ENO3, GAMT, GATM, SUCLA2, COQ8A, RFT1, GYS1, ACAD8, COG1, COG8, TUSC3, SLC25A3, PNPLA2, POLG2, CTSD, ACADSB, TK2, MPDU1, GFM1, HADHB, DPM1, COG7, ALG9, ATIC, ALG1, ALG8, ALG2, UCP2, COQ2, SPG7, ALG12, B4GALT1, GLUD1, PCCB, PCCA, HMGCS2, GCSH, GLDC, AMT, SLC35A1, ALG6, TYMP, MPI, ALG3, D2HGDH, AGPS, OTC, PDHA1, TIMM8A, TAZ, PHKA1, ABCD1, XDH, MMADHC, LMBRD1, TCN2, HEXA, GM2A, SUOX, ALDH5A1, HEXB, LPIN1, PHYH, SLC35C1, NT5C3A, ALDH7A1, CTSK, ACOX1, PHKB, PGAM2, PTS, QDPR, PAH, CUBN, GIF, AGXT, OAT, MPV17, CTSA, ISCU, CPT1A, GUSB, GALNS, GNS, HGSNAT, NAGLU, SGSH, MOCS2, MOCS1, NDUFS1, MCEE, MMAB, MMAA, MUT, HIBCH, DBT, MANBA, MAN2B1, MLYCD, SUCLG1, GALC, OXCT1, IVD, SLC25A15, NAGS, L2HGDH, CBS, PFKM, PYGM, GBE1, ETFB, ETFA, ETFDH, GCDH, GALT, GALE, GALK1, SLC3A1, ASS1, SLC22A5, SLC25A20, MGAT2, PMM2, APTX, ASL, GLRX5, TPP1, CLN3, FECH, PPOX, CPOX, SLC6A8, PDHX, ABCD4, ADA, AGA, AHCY, APRT, ARSB, SUGCT, DOLK, DPAGT1, MOGS, GNMT, HPD, PNP, ARSA, ASPA, GBA, DHCR7, GLA, HRAS, IDS, IDUA, LIPA, NPC1, NPC2, RAI1, SLC2A1, GPC3, CLN6, CLN8, FKTN, CTNS, PEX2, PPT1, PEX7, SERPINA1, SLC7A7, MCOLN1, PEX1, SLC17A5, SUMF1, ABCC8, CLN5, DPYD, LMNA, CLCN1, FKRP, CAV3, DYSF, SCN4A, GCH1, KCNJ11, CASR, PDX1, HNF4A, UMOD, SLC12A3, BSND, CLCNKB, ANO5, MYOT, LDB3, BSCL2, CACNA1S, RYR1, KCNJ2, KCNA1, ANO10, LAMA2, DPM2, NHLRC1, SLC35A2, FOLR1, EPM2A, ALG13, ASAH1, FLNA, MFSD8, ATP13A2, SAMHD1, KCNJ10, TCF4, RNASEH2A, RNASEH2C, RNASEH2B, TREX1, COL11A2, PRPS1, PEX6, FUCA1, PEX14, PEX19, PEX13, PEX3, PEX16, PEX26, PEX10, PEX12, PEX5, UROS, NEU1, SEC23B, HCFC1, LAMP2, MAGT1, EBP, NAGA, HYAL1, CTSC, ADAMTSL2, ANTXR2, DYM, GNPTG, CNNM4, CAV1, PRKAG2, FBXL4, AMPD1, MYH3, ZMPSTE24, IFIH1, ADAR, PGK1, CD320, GNPAT, TRIM37, NBAS, COG4, ALG11, COG6, COG5, TMEM165, SLC46A1, PCBD1, HADH, SLC2A2, AKT2, PTF1A, B3GLCT, TPMT, INSR, SLC39A4, SLC40A1, SI, TFR2, HAMP, HJV, LIPE, TBC1D4, PLIN1, AGPAT2, REN, SLC25A1, MAN1B1, FAM111A, SERAC1, CLPB, LIPT1, ECHS1, SLC30A10, ACY1, SLC6A19, COQ4, RBCK1, CLDN16, CLDN19, FLNB, PEPD, GYG1, PEX11B, SLC7A9, FXYD2, UMPS, HGD, LCT, FMO3, SLC5A1, UROD, TRPM6, HMBS, PCK1, GPHN, CNNM2, SSR4, EGF, NGLY1, STT3B, STT3A, ABCD3, ALAD, UPB1, DPYS, CTH, FLAD1, MOCOS, COQ7, COQ5, TANGO2, GMPPA, ADK, SLC25A26, SLC6A9, GLUL, NIPA2, PRKAG3 Specificity 1 % Genes 100 %
Hemochromatosis type 4. By Bioarray in Spain. SLC40A1 Specificity 100 % Genes 100 %
Hemochromatosis NGS and Deletion and Duplication Panel. By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children in United States. HFE, FTL, SLC40A1, TFR2, HAMP, HJV, FTH1 Specificity 15 % Genes 100 %
SLC40A1 Gene Sequencing and Deletion/Duplication Analysis. By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children in United States. SLC40A1 Specificity 100 % Genes 100 %
Next Generation Sequencing for Jaundice Associated Genes Variation Test. By National Taiwan University Hospital A1 Center National Taiwan University Hospital in Taiwan. HFE, ABCB11, ABCB4, ATP7B, ATP8B1, BCS1L, TWNK, INVS, HBB, HNF1B, AMACR, JAG1, POLG, RRM2B, SLC25A13, DGUOK, MPV17, SUCLG1, ASS1, CYP27A1 , (...) View the complete list with 53 more genes Panel GTR000558423 complete gene list HFE, ABCB11, ABCB4, ATP7B, ATP8B1, BCS1L, TWNK, INVS, HBB, HNF1B, AMACR, JAG1, POLG, RRM2B, SLC25A13, DGUOK, MPV17, SUCLG1, ASS1, CYP27A1, ASL, CFTR, LIPA, NPC1, NPC2, HBA1, G6PD, HBA2, SERPINA1, UGT1A1, PKHD1, PKD2, PKD1, CYP7B1, DCDC2, TJP2, ABCB1, TFAM, FTL, AKR1D1, SCO1, VPS33B, BAAT, SLC40A1, ABCC2, TFR2, PRKCSH, HAMP, HJV, CLDN1, EPHX1, SLC10A1, NOTCH2, HSD3B7, SLCO1B1, SLCO1B3, SEC63, CYP7A1, COPA, NR1H4, MYO5B, CD14, FOXM1, CHMP5, SLC51A, SLC51B, SLCO1A2, SLCO2B1, ABCC3, ABCC4, HES1, ONECUT1, FGF19 Specificity 2 % Genes 100 %
HEMOCHROMATOSIS TYPE 4. By Laboratorio de Genetica Clinica SL in Spain. SLC40A1 Specificity 100 % Genes 100 %
Hemochromatosis type 4. By LifeLabs Genetics in Canada. SLC40A1 Specificity 100 % Genes 100 %
Hemochromatosis Type 4, Sequencing SLC40A1 Gene. By Reference Laboratory Genetics in Spain. SLC40A1 Specificity 100 % Genes 100 %
Hereditary Hemochromatosis , Panel Massive Sequencing (NGS) 6 Genes. By Reference Laboratory Genetics in Spain. HFE, SLC40A1, TFR2, HAMP, HJV, FTH1 Specificity 17 % Genes 100 %
Hemochromatosis type 4. By Labor Dr. Wisplinghoff in Germany. SLC40A1 Specificity 100 % Genes 100 %

Alternate names

Hemochromatosis, Type 4; Hfe4 Is also known as hemochromatosis, autosomal dominant, hemochromatosis due to defect in ferroportin;autosomal dominant hereditary hemochromatosis; ferroportin disease; hemochromatosis due to defect in ferroportin.

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