Iron disorders

Gene    Associated Phenotype description and OMIM ID 
HFE Alzheimer disease, susceptibility to, 104300
CYBRD1 anemia (Iolascon et al. (2009)). 
HEPH anemia (Vulpe et al. (1999), Anderson et al. (2002), Chen et al. (2004)). 
 SLC25A37 anemia and disruptions in ISC biogenesis, inhibition protoporphyrin biosynthesis (Shaw et al. (2006), 
SEC23B Anemia dyserythropoietic congenital type II,224100 
SLC11A2 Anemia hypochromic microcytic 
ABCB10 anemia with protoporphyrin IX (PPIX) accumulation (Chen et al. (2009), Yamamoto et al. (2014)). 
KLF1 Anemia, dyserythropoietic congenital, type IV, 613673 
GLRX5-SLC25A38 Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive, 205950 
ABCB7 Anemia, sideroblastic, with ataxia, 301310 
ALAS2 Anemia, sideroblastic, X-linked, 300751
TF Atransferrinemia, 209300
KLF1 Blood group--Lutheran inhibitor, 111150
CP Cerebellar ataxia, 604290 
SFXN4 Combined oxidative phosphorylation deficiency 18, 615578 
TMEM14C combined porphyria and anemia (Paw et al. (2013), Yien et al. (2014)). 
KIF23 Congenital dyserythropoietic anemia type III (CDAIII, Liljeholm et al. (2013)). 
CDAN1 Dyserythropoietic anemia, congenital, type Ia,224120 
C15orf41 Dyserythropoietic anemia, congenital, type Ib, 615631 
SLC46A1 Folate malabsorption, hereditary, 229050 
FXN Friedreich ataxia with retained reflexes, 229300 
FXN Friedreich ataxia, 229300 
PANK2 HARP syndrome, 607236 
HMOX1 Heme oxygenase-1 deficiency, 614034 
BMP6 hemochromatosis (Babitt et al. (2007), Kautz et al. (2008)). 
CCL2 Hemochromatosis (Muckenthaler (submitted 2015). 
HFE2 Hemochromatosis type 2A 
FTH1 Hemochromatosis type 5 (3). Kato et al (2001), Arosio et al. (2010). 
HFE Hemochromatosis, 235200
HAMP Hemochromatosis, type 2B, 613313
TFR2 Hemochromatosis, type 3, 604250
SLC40A1 Hemochromatosis, type 4, 606069
EXOC6 Hemoglobin deficit (hypochromic anemia) (Lim et al. (2005), Fleming et al. (2005)) 
CP Hemosiderosis, systemic, due to aceruloplasminemia, 604290 
KLF1 Hereditary persistence of fetal hemoglobin, 613566
FTL Hyperferritinemia-cataract syndrome, 600886
CP Hypoceruloplasminemia, hereditary, 604290 
ATP4A iron-deficiency anemia (Krieg et al. (2011) (mice studies)). 
TMPRSS6 Iron-refractory iron deficiency anemia, 206200
GATA1 Leukemia, megakaryoblastic, with or without Down syndrome, somatic, 190685 
TFRC microcytic anemia (Wingert et al. (2004), Isolascon et al. (2009)). 
HFE Microvascular complications of diabetes 7, 612635
PUS1 Mitochondrial myopathy and sideroblastic anemia 1, 600462 
YARS2 Myopathy, lactic acidosis, and sideroblastic anemia 2, 613561
PANK2 Neurodegeneration with brain iron accumulation 1, 234200
FTL Neurodegeneration with brain iron accumulation 3, 606159 
HSCB-HSPA9 non-syndromic CSA (M.D. Fleming (manuscript in preparation)). 
HFE Porphyria cutanea tarda, susceptibility to, 176100
HFE Porphyria variegata, susceptibility to, 176200
UROS Porphyria, congenital erythropoietic, 263700 
FECH Protoporphyria, erythropoietic, autosomal recessive, 177000 
ALAS2 Protoporphyria, erythropoietic, X-linked, 300752 
HMOX1 Pulmonary disease, chronic obstructive, susceptibility to, 606963 
SLC19A2 Thiamine-responsive megaloblastic anemia syndrome, 249270
GATA1 Thrombocytopenia with beta-thalassemia, X-linked, 314050 
GATA1 Thrombocytopenia, X-linked, with or without dyserythropoietic anemia, 300367
HFE Transferrin serum level QTL2, 614193 
 SLC25A37 Wang et al. (2011); erythropoietic protophyria) 



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