MCID: SDR002
MIFTS: 42

Siderosis

Categories: Eye diseases, Rare diseases, Respiratory diseases

Aliases & Classifications for Siderosis

MalaCards integrated aliases for Siderosis:

Name: Siderosis 12 75 53 55 44 15 72 33
Pulmonary Siderosis 12
Deposition of Iron 72

Classifications:



External Ids:

Disease Ontology 12 DOID:10328
MeSH 44 D012806
SNOMED-CT 68 62371005
ICD10 33 J63.4
UMLS 72 C0037061 C0333596

Summaries for Siderosis

MalaCards based summary : Siderosis, also known as pulmonary siderosis, is related to superficial siderosis and superficial siderosis of the central nervous system. An important gene associated with Siderosis is HFE (Homeostatic Iron Regulator), and among its related pathways/superpathways are Insulin receptor recycling and HIF-1-alpha transcription factor network. The drugs Liver Extracts and Deferiprone have been mentioned in the context of this disorder. Affiliated tissues include liver, lung and bone, and related phenotype is liver/biliary system.

Wikipedia : 75 Siderosis is the deposition of excess iron in body tissue. When used without qualification, it usually... more...

Related Diseases for Siderosis

Diseases in the Siderosis family:

Siderosis of Eye

Diseases related to Siderosis via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 314)
# Related Disease Score Top Affiliating Genes
1 superficial siderosis 34.1 TF LTF FTH1
2 superficial siderosis of the central nervous system 33.9 TF LTF FTH1
3 iron overload in africa 33.0 TFRC TF SLC40A1 HFE
4 thalassemia 30.9 TFRC TF HFE
5 porphyria 30.7 UROD TF HFE
6 beta-thalassemia 30.5 TFRC TF HFE
7 porphyria cutanea tarda, type i 30.4 UROD HFE
8 familial porphyria cutanea tarda 30.4 UROD HFE
9 porphyria cutanea tarda 30.1 UROD TFRC TF HFE
10 hemosiderosis 30.0 TFRC TF SLC40A1 HFE GPT
11 deficiency anemia 30.0 TFRC TF SLC40A1 HFE
12 iron metabolism disease 29.9 TFRC TF SLC40A1 HFE
13 hemoglobinopathy 29.9 TF HFE
14 iron deficiency anemia 29.6 TFRC TF SLC40A1 HFE
15 liver cirrhosis 29.5 TF SERPINA1 HFE GPT
16 viral hepatitis 29.3 SERPINA1 HFE GPT
17 liver disease 29.2 TF SERPINA1 HFE GPT
18 hemochromatosis, type 1 28.4 UROD TFRC TF SLC40A1 SERPINA1 HFE
19 siderosis of eye 12.3
20 hemochromatosis, neonatal 11.6
21 interstitial lung disease 11.5
22 ataxia and polyneuropathy, adult-onset 10.8
23 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.7
24 sensorineural hearing loss 10.6
25 cerebral amyloid angiopathy, cst3-related 10.6
26 aceruloplasminemia 10.6
27 branchiootic syndrome 1 10.6
28 rare hereditary hemochromatosis 10.6
29 hyperferritinemia with or without cataract 10.5 TF HFE
30 folic acid deficiency anemia 10.4 TFRC TF
31 hemochromatosis, type 3 10.4 SLC40A1 HFE
32 acute porphyria 10.4 UROD HFE
33 cardiomyopathy, familial hypertrophic, 9 10.4 TF FTH1
34 benign ependymoma 10.4
35 ependymoma 10.4
36 hemochromatosis, type 5 10.4 HFE FTH1
37 angiomatous meningioma 10.4 TFRC TF
38 rhizomelic chondrodysplasia punctata, type 2 10.3 UROD HFE
39 hydrocephalus 10.3
40 congenital hydrocephalus 10.3
41 haemophilus influenzae 10.3 TF LTF
42 kwashiorkor 10.3 TF GPT
43 radiation proctitis 10.3 TF LTF
44 anthracosis 10.3
45 alzheimer disease 10.2
46 vitamin b12 deficiency 10.2 TF GPT
47 pneumoconiosis 10.2
48 arteriovenous malformation 10.2
49 headache 10.2
50 analbuminemia 10.2 TF GPT

Graphical network of the top 20 diseases related to Siderosis:



Diseases related to Siderosis

Symptoms & Phenotypes for Siderosis

MGI Mouse Phenotypes related to Siderosis:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 liver/biliary system MP:0005370 9.1 FTH1 HFE LTF SLC40A1 TFRC UROD

Drugs & Therapeutics for Siderosis

Drugs for Siderosis (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 20)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Liver Extracts Phase 4
2
Deferiprone Approved Phase 2, Phase 3 30652-11-0 2972
3
Amlodipine Approved Phase 2, Phase 3 88150-42-9 2162
4
Deferoxamine Approved, Investigational Phase 2, Phase 3 70-51-9 2973
5
Zinc Approved, Investigational Phase 3 7440-66-6 32051
6
Calcium Approved, Nutraceutical Phase 2, Phase 3 7440-70-2 271
7 Antihypertensive Agents Phase 2, Phase 3
8 Hormones Phase 2, Phase 3
9 Siderophores Phase 2, Phase 3
10 Vasodilator Agents Phase 2, Phase 3
11 calcium channel blockers Phase 2, Phase 3
12 Calcium, Dietary Phase 2, Phase 3
13 Micronutrients Phase 3
14 Nutrients Phase 3
15 Trace Elements Phase 3
16
Iron Approved, Experimental Phase 2 15438-31-0, 7439-89-6 23925 27284
17
Deferasirox Approved, Investigational Phase 2 201530-41-8 5493381
18 Chelating Agents Phase 2
19 Iron Chelating Agents Phase 2
20 Pharmaceutical Solutions Phase 2

Interventional clinical trials:

(show all 19)
# Name Status NCT ID Phase Drugs
1 An Epidemiological Study to Assess the Prevalence of Iron Overload Using MRI in Patients With Transfusional Siderosis (TIMES Study) Completed NCT01736540 Phase 4
2 Effect of L-type Calcium Channel Blocker (Amlodipine) on Myocardial Iron Deposition in Thalassemic Patients With Moderate to Severe Myocardial Iron Deposition: A Randomized Pilot Study Completed NCT02065492 Phase 2, Phase 3 Standard Chelation;Amlodipine
3 Effect of Zinc Supplementation on Glucose Homeostasis in Patients With β-Thalassemia Major Complicated With Diabetes Mellitus Completed NCT03851055 Phase 3 Zinc
4 Multimodal Biomarkers for Diagnosis and Prognosis in Cerebral Amyloid Angiopathy Recruiting NCT03969732 Phase 3 1. amyloid PET;2. T807 PET
5 A Phase II Trial of the Safety and Efficacy of Iron Reduction by Phlebotomy in Recipients of Hematopoietic Stem Cell Transplants Completed NCT00689182 Phase 2
6 Deferasirox Versus Venesection in Patients With Hemochromatosis and for Treatment of Transfusional Siderosis in Myelodysplastic Syndrome: Diagnostics and New Biomarkers. Terminated NCT01892644 Phase 2 Deferasirox;Deferasirox
7 Observational Study on the Prognostic Relevance of Supratentorial Superficial Siderosis in Patients With Suspected Cerebral Amyloid Angiopathy Unknown status NCT01856699
8 The Early Warning System for the Central Nervous System Micro-structure Alterations During Early Diabetes Based on the Multi-mode MRIs Unknown status NCT02420470
9 A Research of the Methods of Etiological Diagnosis of Cerebral Amyloid Angiopathy Unknown status NCT02361411
10 Assessment of Iron Deposition in Major Organs of Hemodialysis Patients, Using T2*MRI and Novel Biomarkers of Free Iron Species Unknown status NCT01169961
11 A Prospective Safety Follow Up Study Of Subjects Enrolled In Study A4321001 And Who Have Received Formulated Drug Product (LOT 8716-098). Completed NCT00471224
12 Phase IV Observational Study of Deferiprone (Ferriprox®) in the Treatment of Superficial Siderosis Completed NCT01284127
13 Evaluation of Myocardial Iron Deposition in Patients of Heart Failure Using T2* MR Imaging Completed NCT02527330
14 Incidence of Cardiac Complications in Patients With Cardiac Siderosis During 1 Year Follow−up and the Normal T2* Ranges in LVF, MI and Normal Population. Completed NCT00520559
15 fMRI of the Brainstem in Migraine Sufferers and Controls. Does Iron Deposition Correlate With Progression of Disease? Completed NCT00868556
16 Quantification of Diffuse Myocardial Iron Overload Related Interstitial Fibrosis With Cardiac Magnetic Resonance Imaging in Patients With Transfusion-Dependent Anemias Completed NCT02090699
17 COrtical Superficial Siderosis and REcurrent Lobar Intracerebral Hemorrhage in Cerebral Amyloid Angiopathy. Recruiting NCT03464344
18 Non-Heme Iron Load Quantification in the Brain on MRI in Patients With Hemorrhagic Stroke Enrolling by invitation NCT01829386
19 A Clinico-radiological Reappraisal of Cerebral Amyloid Angiopathy-related Inflammation in a Series of 28 Patients. Terminated NCT03187886

Search NIH Clinical Center for Siderosis

Cochrane evidence based reviews: siderosis

Genetic Tests for Siderosis

Anatomical Context for Siderosis

MalaCards organs/tissues related to Siderosis:

41
Liver, Lung, Bone, Brain, Heart, Bone Marrow, Spleen

Publications for Siderosis

Articles related to Siderosis:

(show top 50) (show all 1665)
# Title Authors PMID Year
1
HFE genotype, parenchymal iron accumulation, and liver fibrosis in patients with nonalcoholic fatty liver disease. 9 38
19931264 2010
2
Does chloroquine therapy of porphyria cutanea tarda influence liver pathology? 9 38
20064187 2009
3
Ferroportin-1 in the recurrence of hepatic iron overload after liver transplantation. 9 38
18337195 2009
4
Down-regulation of hepcidin in porphyria cutanea tarda. 9 38
18809758 2008
5
[Hereditary hemochromatosis, alpha-1-antitrypsin deficiency and Wilson's disease. Pathogenesis, clinical findings and pathways to diagnosis]. 9 38
18210110 2008
6
Pathology of hepatic iron overload. 9 38
17729397 2007
7
Review article: the genetic basis of haemochromatosis. 9 38
17635368 2007
8
[Hereditary and acquired iron overload]. 9 38
17373275 2006
9
Serum ceruloplasmin and ferroxidase activity are not decreased in hepatic failure related to alcoholic cirrhosis: clinical and pathophysiological implications. 9 38
15166653 2004
10
Increased duodenal expression of divalent metal transporter 1 and iron-regulated gene 1 in cirrhosis. 9 38
14768003 2004
11
Uroporphyria in the uroporphyrinogen decarboxylase-deficient mouse: Interplay with siderosis and polychlorinated biphenyl exposure. 9 38
12297827 2002
12
Testing for haemochromatosis in a liver clinic population: relationship between ethnic origin, HFE gene mutations, liver histology and serum iron markers. 9 38
11953685 2002
13
Hemochromatosis (HFE) and transferrin receptor-1 (TFRC1) genes in sporadic porphyria cutanea tarda (sPCT). 9 38
11929045 2002
14
A mouse model of familial porphyria cutanea tarda. 9 38
11134514 2001
15
Elevated CSF lactoferrin in superficial siderosis of the central nervous system. 9 38
10552243 1999
16
Spur cell anaemia and hepatic iron stores in patients with alcoholic liver disease undergoing orthotopic liver transplantation. 9 38
10403746 1999
17
Hepatic iron overload: direct HFE (HLA-H) mutation analysis vs quantitative iron assays for the diagnosis of hereditary hemochromatosis. 9 38
9576576 1998
18
Prevalence of genetic hemochromatosis in a cohort of Italian patients with diabetes mellitus. 9 38
9490597 1998
19
Serum transferrin receptor in hereditary hemochromatosis and African siderosis. 9 38
8178799 1994
20
Regulation of hepatic transferrin, transferrin receptor and ferritin genes in human siderosis. 9 38
1959858 1991
21
Neopterin as a marker of C hepatitis in thalassaemia major. 9 38
1649287 1991
22
[Iron metabolism and chloroquine phosphate therapy in porphyria cutanea tarda]. 9 38
2080653 1990
23
Detection of hepatic steatosis and iron content at 3 Tesla: comparison of two-point Dixon, quantitative multi-echo Dixon, and MR spectroscopy. 38
31286208 2019
24
Detection of Spinal Dural Defect in Superficial Siderosis by Intraoperative Ultrasonography. 38
31252076 2019
25
Susceptibility-weighted imaging in the differential diagnosis of autoimmune central nervous system vasculitis and multiple sclerosis. 38
31158805 2019
26
Impaired dynamic cerebral autoregulation in patients with cerebral amyloid angiopathy. 38
30998930 2019
27
Predictors for Late Post-Intracerebral Hemorrhage Dementia in Patients with Probable Cerebral Amyloid Angiopathy. 38
31403947 2019
28
Cortical microinfarcts in patients with multiple lobar microbleeds on 3 T MRI. 38
31049727 2019
29
[Superficial siderosis of the central nervous system caused by myxopapillary ependymoma of conus medullaris and cauda equine: a case report and literature review]. 38
31420638 2019
30
Efficacy and safety of deferiprone for the treatment of superficial siderosis: results from a long-term observational study. 38
30903420 2019
31
Convexal subarachnoid hemorrhage and acute ischemic stroke: a border zone matter? 38
30937557 2019
32
APOE and cortical superficial siderosis in CAA: Meta-analysis and potential mechanisms. 38
31243071 2019
33
A case of post-splenectomy transfusion-dependent homozygous beta-thalassemia major complicated with myocardial siderosis and osteoporosis and usage of iron-chelating therapy with deferiprone in pregnancy. 38
31301670 2019
34
Extrahepatic Nonreticuloendothelial Siderosis Is Not Specific to Gestational Alloimmune Liver Disease. 38
30722724 2019
35
Total Burden of Cerebral Small Vessel Disease in Recurrent ICH versus First-ever ICH. 38
31165001 2019
36
Clinical significance of amyloid β positivity in patients with probable cerebral amyloid angiopathy markers. 38
30937462 2019
37
Chronic alcohol abuse may lead to high skin iron content, but not to hepatic siderosis. 38
31255434 2019
38
Superficial siderosis of central nervous system with unknown cause: report of 2 cases and review of the literature. 38
29160113 2019
39
3D Multi-Echo Dixon technique for simultaneous assessment of liver steatosis and iron overload in patients with chronic liver diseases: a feasibility study. 38
31367555 2019
40
[Management of oral anticoagulation related intracerebral hemorrhage]. 38
30941474 2019
41
A case of Niemann-Pick disease type C with neonatal liver failure initially diagnosed as neonatal hemochromatosis. 38
30737051 2019
42
Cardiac involvement in beta-thalassaemia: current treatment strategies. 38
31002266 2019
43
[Clinical features of cerebral amyloid angiopathy characterized by cortical superficial siderosis]. 38
31137127 2019
44
Scintigraphic liver function and transient elastography in the assessment of patients with resectable hepatocellular carcinoma. 38
30366883 2019
45
Multiple Cerebral Hemorrhagic Lesions Depicted by Susceptibility-Weighted Imaging in a Patient with Down Syndrome: Case Report. 38
30797641 2019
46
Multicenter validation of the magnetic resonance T2* technique for quantification of pancreatic iron. 38
30338366 2019
47
Ocular Siderosis Secondary to Retained Intraocular Foreign Body: A Case Report. 38
31328053 2019
48
Myocardial Iron Overload in Sickle Cell Disease: A Rare But Potentially Fatal Complication of Transfusion. 38
31153715 2019
49
Asymptomatic Cerebral Small Vessel Disease: Insights from Population-Based Studies. 38
30991799 2019
50
MRI predicts intracranial hemorrhage in patients who receive long-term oral anticoagulation. 38
31004066 2019

Variations for Siderosis

Expression for Siderosis

Search GEO for disease gene expression data for Siderosis.

Pathways for Siderosis

GO Terms for Siderosis

Cellular components related to Siderosis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular exosome GO:0070062 9.8 TFRC TF SERPINA1 LTF GPT FTH1
2 extracellular space GO:0005615 9.73 TFRC TF SERPINA1 LTF HFE GPT
3 early endosome GO:0005769 9.54 TFRC TF HFE
4 clathrin-coated pit GO:0005905 9.46 TFRC TF
5 tertiary granule lumen GO:1904724 9.43 LTF FTH1
6 clathrin-coated vesicle membrane GO:0030665 9.4 TFRC TF
7 basal part of cell GO:0045178 9.16 TF HFE
8 recycling endosome GO:0055037 9.13 TFRC TF HFE
9 HFE-transferrin receptor complex GO:1990712 8.8 TFRC TF HFE

Biological processes related to Siderosis according to GeneCards Suite gene sharing:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 9.76 TF SLC40A1 LTF HFE
2 cellular protein metabolic process GO:0044267 9.61 TF SERPINA1 LTF
3 retina homeostasis GO:0001895 9.49 TF LTF
4 acute-phase response GO:0006953 9.48 SERPINA1 HFE
5 transferrin transport GO:0033572 9.43 TFRC TF HFE
6 positive regulation of receptor-mediated endocytosis GO:0048260 9.4 TF HFE
7 multicellular organismal iron ion homeostasis GO:0060586 9.37 SLC40A1 HFE
8 iron ion transport GO:0006826 9.33 TF SLC40A1 FTH1
9 cellular response to iron ion GO:0071281 9.32 TF HFE
10 iron ion homeostasis GO:0055072 9.26 TF SLC40A1 LTF HFE
11 cellular iron ion homeostasis GO:0006879 9.1 TFRC TF SLC40A1 ISCU HFE FTH1

Molecular functions related to Siderosis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 iron ion binding GO:0005506 9.43 LTF ISCU FTH1
2 ferric iron binding GO:0008199 9.16 TF FTH1
3 transferrin receptor binding GO:1990459 8.96 TF HFE
4 ferrous iron binding GO:0008198 8.8 TF ISCU FTH1

Sources for Siderosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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