Symptomatic Form Of Hemochromatosis Type 1

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Retrieved

2021-01-23

Source

Orphanet

Trials

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Genes

HFE, HJV, BMP2, HAMP, TF, TFR2, TFRC, HLA-A, SLC40A1, HLA-H, TMPRSS6, BMP6, SLC11A2, TNF, CP, CYBRD1, APOE, HLA-F, HLA-B, GSTP1, GNPAT, EPO, FTL, UBE2D1, SUCNR1, B2M, COX8A, TLR4, ZKSCAN8, PCSK7

HFE, HJV, BMP2, HAMP, TF, TFR2, TFRC, HLA-A, SLC40A1, HLA-H, TMPRSS6, BMP6, SLC11A2, TNF, CP, CYBRD1, APOE, HLA-F, HLA-B, GSTP1, GNPAT, EPO, FTL, UBE2D1, SUCNR1, B2M, COX8A, TLR4, ZKSCAN8, PCSK7, ADIPOQ, FADS2, TP53, UROD, NAT2, PIEZO1, HEPH, TRIM31, NUP42, PPP1R11, BCO1, EAF2, TNMD, SLC46A1, BTBD9, GAB3, MCIDAS, LINC01194, HPGDS, MMP1, SOD1, GABPA, ALAD, ALB, ALDH2, ARNTL, ATP7B, CALR, CFTR, CTNNB1, CYLD, F5, FOXC2, FXN, GAST, FUT2, GAPDH, UBL3, GC, GNRH1, HP, IGFALS, IGHG3, IL6, SMAD1, SMAD7, MDM2, AGTR1, NFE2L2, NMBR, PGF, SERPINA1, MFT2

Drugs

(S)-3'-(OH)-desazadesferrithiocin-polyether, magnesium salt, 4,5-dihydro-2-(2,4-dihydroxyphenyl)-4-methylthiazole-4(S)-carboxylic acid, Deferasirox ( EXJADE, DEFERASIROX MYLAN )

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Symptomatic form of hemochromatosis type 1 is a rare, hereditary hemochromatosis characterized by inappropriately regulated intestinal iron absorption which leads to excessive iron storage in various organs and manifests with a wide range of signs and symptoms, including abdominal pain, weakness, lethargy, weight loss, elevated serum aminotransferase levels, increase in skin pigmentation, and/or arthropathy in the metacarpophalangeal joints. Other commonly associated manifestations include hepatomegaly, cirrhosis, liver fibrosis, hepatocellular carcinoma, restrictive cardiomyopathy and/or diabetes mellitus.