MCID: SDR002
MIFTS: 44

Siderosis

Categories: Eye diseases, Rare diseases, Respiratory diseases

Aliases & Classifications for Siderosis

MalaCards integrated aliases for Siderosis:

Name: Siderosis 12 74 52 54 43 15 71 32
Pulmonary Siderosis 12
Deposition of Iron 71

Classifications:



External Ids:

Disease Ontology 12 DOID:10328
MeSH 43 D012806
SNOMED-CT 67 62371005
ICD10 32 J63.4
UMLS 71 C0037061 C0333596

Summaries for Siderosis

MalaCards based summary : Siderosis, also known as pulmonary siderosis, is related to superficial siderosis of the central nervous system and superficial siderosis. An important gene associated with Siderosis is HFE (Homeostatic Iron Regulator), and among its related pathways/superpathways are Glucose / Energy Metabolism and Insulin receptor recycling. The drugs Liver Extracts and Deferiprone have been mentioned in the context of this disorder. Affiliated tissues include liver, lung and brain, and related phenotypes are hematopoietic system and homeostasis/metabolism

Wikipedia : 74 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 332)
# Related Disease Score Top Affiliating Genes
1 superficial siderosis of the central nervous system 34.2 TF LTF FTH1
2 superficial siderosis 33.8 TF LTF HMOX1 FTH1 APOE
3 iron overload in africa 31.5 TFR2 TF SLC40A1 HJV HFE HAMP
4 porphyria cutanea tarda, type i 30.3 UROD HFE
5 familial porphyria cutanea tarda 30.3 UROD HFE
6 alcohol use disorder 30.1 TF HFE GPT
7 liver cirrhosis 29.8 TF SERPINA1 HFE GPT CP
8 hemolytic anemia 29.6 TFRC TF HMOX1 HBB
9 viral hepatitis 29.5 SERPINA1 HFE GPT CP
10 liver disease 29.5 TF SERPINA1 HFE GPT CP
11 esophageal varix 29.4 SERPINA1 GPT CP
12 arthropathy 29.4 HJV HFE HAMP
13 friedreich ataxia 29.0 TFRC SLC40A1 ISCU HFE HAMP
14 beta-thalassemia 28.2 TFRC TFR2 TF HJV HFE HBB
15 porphyria cutanea tarda 28.1 UROD TFRC TFR2 TF SLC40A1 HJV
16 thalassemia 27.9 TFRC TFR2 TF SLC40A1 HJV HFE
17 sideroblastic anemia 27.6 UROD TFRC TFR2 SLC40A1 HJV HFE
18 hemosiderosis 27.6 UROD TFRC TFR2 TF SLC40A1 HJV
19 hemoglobinopathy 27.6 TFRC TFR2 TF HJV HFE HBB
20 aceruloplasminemia 27.5 TFRC TFR2 SLC40A1 LTF ISCU HJV
21 iron metabolism disease 27.3 TFRC TFR2 TF SLC40A1 HJV HFE
22 porphyria 27.2 UROD TFRC TFR2 TF SLC40A1 HMOX1
23 iron deficiency anemia 26.9 TFRC TFR2 TF SLC40A1 LTF HJV
24 deficiency anemia 26.4 TFRC TFR2 TF SLC40A1 LTF HMOX1
25 hemochromatosis, type 1 26.2 UROD TFRC TFR2 TF SLC40A1 SERPINA1
26 siderosis of eye 12.3
27 hemochromatosis, neonatal 11.6
28 interstitial lung disease 11.5
29 ataxia and polyneuropathy, adult-onset 10.8
30 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.7
31 cerebral amyloid angiopathy, cst3-related 10.6
32 sensorineural hearing loss 10.6
33 branchiootic syndrome 1 10.6
34 rare hereditary hemochromatosis 10.6
35 hyperferritinemia with or without cataract 10.5 TF HFE
36 cutaneous porphyria 10.4 UROD HFE
37 benign ependymoma 10.4
38 cellular ependymoma 10.4
39 haemophilus influenzae 10.3 TF LTF
40 radiation proctitis 10.3 TF LTF
41 hydrocephalus 10.3
42 ophthalmia nodosa 10.3 TF LTF
43 mycobacterium abscessus 10.3 SERPINA1 HMOX1
44 anthracosis 10.3
45 alzheimer disease 10.2
46 pneumoconiosis 10.2
47 arteriovenous malformation 10.2
48 headache 10.2
49 protoporphyria, erythropoietic, 1 10.2 UROD TFRC HMOX1
50 spastic paraplegia 38, autosomal dominant 10.2 TFRC FTH1

Graphical network of the top 20 diseases related to Siderosis:



Diseases related to Siderosis

Symptoms & Phenotypes for Siderosis

MGI Mouse Phenotypes related to Siderosis:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 10 APOE CP FTH1 HFE HJV HMOX1
2 homeostasis/metabolism MP:0005376 9.93 APOE CP FTH1 HFE HJV HMOX1
3 immune system MP:0005387 9.7 APOE CP FTH1 HFE HJV HMOX1
4 liver/biliary system MP:0005370 9.36 APOE CP FTH1 HFE HJV HMOX1

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 Siderophores Phase 2, Phase 3
9 Vasodilator Agents Phase 2, Phase 3
10 Calcium, Dietary Phase 2, Phase 3
11 calcium channel blockers Phase 2, Phase 3
12 Hormones Phase 2, Phase 3
13 Nutrients Phase 3
14 Trace Elements Phase 3
15 Micronutrients Phase 3
16
Iron Approved, Experimental Phase 2 7439-89-6, 15438-31-0 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 20)
# 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 Clinical and Imaging Biomarkers of Audiovestibular Function in Infratentorial Superficial Siderosis Not yet recruiting NCT04200664
20 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:

40
Liver, Lung, Brain, Bone, Pituitary, Heart, Bone Marrow

Publications for Siderosis

Articles related to Siderosis:

(show top 50) (show all 1691)
# Title Authors PMID Year
1
HFE genotype, parenchymal iron accumulation, and liver fibrosis in patients with nonalcoholic fatty liver disease. 54 61
19931264 2010
2
Does chloroquine therapy of porphyria cutanea tarda influence liver pathology? 54 61
20064187 2009
3
Ferroportin-1 in the recurrence of hepatic iron overload after liver transplantation. 54 61
18337195 2009
4
Down-regulation of hepcidin in porphyria cutanea tarda. 54 61
18809758 2008
5
[Hereditary hemochromatosis, alpha-1-antitrypsin deficiency and Wilson's disease. Pathogenesis, clinical findings and pathways to diagnosis]. 54 61
18210110 2008
6
Pathology of hepatic iron overload. 54 61
17729397 2007
7
Review article: the genetic basis of haemochromatosis. 54 61
17635368 2007
8
[Hereditary and acquired iron overload]. 54 61
17373275 2006
9
Serum ceruloplasmin and ferroxidase activity are not decreased in hepatic failure related to alcoholic cirrhosis: clinical and pathophysiological implications. 54 61
15166653 2004
10
Increased duodenal expression of divalent metal transporter 1 and iron-regulated gene 1 in cirrhosis. 54 61
14768003 2004
11
Uroporphyria in the uroporphyrinogen decarboxylase-deficient mouse: Interplay with siderosis and polychlorinated biphenyl exposure. 54 61
12297827 2002
12
Testing for haemochromatosis in a liver clinic population: relationship between ethnic origin, HFE gene mutations, liver histology and serum iron markers. 54 61
11953685 2002
13
Hemochromatosis (HFE) and transferrin receptor-1 (TFRC1) genes in sporadic porphyria cutanea tarda (sPCT). 54 61
11929045 2002
14
A mouse model of familial porphyria cutanea tarda. 54 61
11134514 2001
15
Elevated CSF lactoferrin in superficial siderosis of the central nervous system. 54 61
10552243 1999
16
Spur cell anaemia and hepatic iron stores in patients with alcoholic liver disease undergoing orthotopic liver transplantation. 54 61
10403746 1999
17
Hepatic iron overload: direct HFE (HLA-H) mutation analysis vs quantitative iron assays for the diagnosis of hereditary hemochromatosis. 54 61
9576576 1998
18
Prevalence of genetic hemochromatosis in a cohort of Italian patients with diabetes mellitus. 54 61
9490597 1998
19
Serum transferrin receptor in hereditary hemochromatosis and African siderosis. 54 61
8178799 1994
20
Regulation of hepatic transferrin, transferrin receptor and ferritin genes in human siderosis. 54 61
1959858 1991
21
Neopterin as a marker of C hepatitis in thalassaemia major. 54 61
1649287 1991
22
[Iron metabolism and chloroquine phosphate therapy in porphyria cutanea tarda]. 54 61
2080653 1990
23
Broadening the spectrum of neonatal hemochromatosis. 61
30058407 2020
24
Convexity subarachnoid hemorrhage in lobar intracerebral hemorrhage: A prognostic marker. 61
32019785 2020
25
Diffuse superficial siderosis: a rare cause of recurrent falls in elderly. 61
32037705 2020
26
Cortical Superficial Siderosis: A Descriptive Analysis in a Memory Clinic Population. 61
31929155 2020
27
Conservative iron chelation for neurodegenerative diseases such as Parkinson's disease and amyotrophic lateral sclerosis. 61
31912279 2020
28
Structured Reporting in Cross-Sectional Imaging of the Heart: Reporting Templates for CMR Imaging of Cardiomyopathies (Myocarditis, Dilated Cardiomyopathy, Hypertrophic Cardiomyopathy, Arrhythmogenic Right Ventricular Cardiomyopathy and Siderosis). 61
31597176 2020
29
[Structured Reporting in Cross-Sectional Imaging of the Heart: Reporting Templates for CMR Imaging of Cardiomyopathies (Myocarditis, Dilated Cardiomyopathy, Hypertrophic Cardiomyopathy, Arrhythmogenic Right Ventricular Cardiomyopathy and Siderosis)]. 61
31694058 2020
30
Superficial Cerebellar Microbleeds and Cerebral Amyloid Angiopathy: A Magnetic Resonance Imaging/Positron Emission Tomography Study. 61
31726962 2020
31
A woman and her breathtaking jewelry. 61
31960767 2020
32
Risks associated with oral deferiprone in the treatment of infratentorial superficial siderosis. 61
31620867 2020
33
Frequency, Extent, and Correlates of Superficial Siderosis and Ependymal Siderosis in Premature Infants with Germinal Matrix Hemorrhage: An SWI Study. 61
31919140 2020
34
Neuroimaging in vascular cognitive impairment and dementia: A systematic review. 61
31929166 2020
35
Magnetic Resonance Imaging Criteria for Post-Concussion Syndrome: A Study of 127 Post-Concussion Syndrome Patients. 61
31822164 2020
36
A case of aneurysmal subarchnoid haemorrhage and superficial siderosis complicated by prospagnosia, simultagnosia and alexia without agraphia. 61
31790281 2019
37
Cortical superficial siderosis and bleeding risk in cerebral amyloid angiopathy: A meta-analysis. 61
31732564 2019
38
[Superficial siderosis of the central nervous system : A consequence of spinal dural leaks persisting for decades]. 61
30969349 2019
39
Cerebral amyloid angiopathy-related transient focal neurological episodes: A transient ischemic attack mimic with an increased risk of intracranial hemorrhage. 61
31525529 2019
40
Chronic alcohol abuse may lead to high skin iron content, but not to hepatic siderosis. 61
31255434 2019
41
Cochlear implantation in the presence of superficial siderosis. 61
31514259 2019
42
Multiple cavernous malformations as a cause for superficial siderosis of the central nervous system. 61
31784939 2019
43
Abnormalities of brain imaging in patients after left ventricular assist device support following explantation. 61
31843457 2019
44
Detection and monitoring of subclinical ocular siderosis using multifocal electroretinogram. 61
31019264 2019
45
Cortical superficial siderosis and recurrent intracerebral hemorrhage risk in cerebral amyloid angiopathy: Large prospective cohort and preliminary meta-analysis. 61
30785378 2019
46
Detection of hepatic steatosis and iron content at 3 Tesla: comparison of two-point Dixon, quantitative multi-echo Dixon, and MR spectroscopy. 61
31286208 2019
47
Ten years of iron chelation in a patient with superficial siderosis. 61
30834458 2019
48
Detection of Spinal Dural Defect in Superficial Siderosis by Intraoperative Ultrasonography. 61
31252076 2019
49
Cortical microinfarcts in patients with multiple lobar microbleeds on 3 T MRI. 61
31049727 2019
50
Impaired dynamic cerebral autoregulation in patients with cerebral amyloid angiopathy. 61
30998930 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:

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 10.06 TFRC TF SERPINA1 LTF HBB HAMP
2 extracellular exosome GO:0070062 9.97 TFRC TF SERPINA1 LTF HBB GPT
3 extracellular space GO:0005615 9.97 TFRC TF SERPINA1 MIR210 LTF HMOX1
4 cell GO:0005623 9.77 TFRC TFR2 TF SLC40A1 LTF ISCU
5 endoplasmic reticulum lumen GO:0005788 9.76 TF SERPINA1 CP APOE
6 early endosome GO:0005769 9.73 TFRC TF HFE APOE
7 recycling endosome GO:0055037 9.7 TFRC TF HFE
8 ficolin-1-rich granule lumen GO:1904813 9.69 SERPINA1 HBB FTH1
9 blood microparticle GO:0072562 9.65 TFRC TF HBB CP APOE
10 tertiary granule lumen GO:1904724 9.54 LTF HBB FTH1
11 endocytic vesicle lumen GO:0071682 9.49 HBB APOE
12 basal part of cell GO:0045178 9.48 TF HFE
13 HFE-transferrin receptor complex GO:1990712 9.02 TFRC TFR2 TF HJV HFE

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

(show all 22)
# Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 9.97 TF SLC40A1 LTF HFE CP
2 post-translational protein modification GO:0043687 9.88 TF SERPINA1 CP APOE
3 receptor-mediated endocytosis GO:0006898 9.85 TFRC TFR2 HBB APOE
4 cellular protein metabolic process GO:0044267 9.85 TF SERPINA1 LTF CP APOE
5 liver regeneration GO:0097421 9.67 HMOX1 HFE HAMP
6 iron ion transport GO:0006826 9.63 TFRC TFR2 TF SLC40A1 FTH1 CP
7 acute-phase response GO:0006953 9.62 TFR2 SERPINA1 HFE HAMP
8 positive regulation of endocytosis GO:0045807 9.61 TFR2 APOE
9 response to iron ion GO:0010039 9.61 TFR2 HFE HAMP
10 positive regulation of receptor-mediated endocytosis GO:0048260 9.6 TF HFE
11 positive regulation of bone resorption GO:0045780 9.59 TFRC TF
12 multicellular organismal iron ion homeostasis GO:0060586 9.58 SLC40A1 HFE HAMP
13 positive regulation of peptide hormone secretion GO:0090277 9.57 TFR2 HFE
14 iron ion transmembrane transport GO:0034755 9.56 TF SLC40A1
15 transferrin transport GO:0033572 9.56 TFRC TFR2 TF HFE
16 iron ion homeostasis GO:0055072 9.56 TFR2 TF SLC40A1 LTF HMOX1 HJV
17 heme metabolic process GO:0042168 9.54 UROD HMOX1
18 cellular response to iron ion GO:0071281 9.54 TFR2 TF HFE
19 response to iron ion starvation GO:1990641 9.52 HFE HAMP
20 regulation of iron ion transport GO:0034756 9.51 TF HFE
21 regulation of transcription from RNA polymerase II promoter in response to iron GO:0034395 9.48 SLC40A1 HMOX1
22 cellular iron ion homeostasis GO:0006879 9.36 TFRC TFR2 TF SLC40A1 ISCU HMOX1

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

# Name GO ID Score Top Affiliating Genes
1 iron ion binding GO:0005506 9.61 LTF ISCU FTH1
2 co-receptor binding GO:0039706 9.4 TFR2 HFE
3 ferric iron binding GO:0008199 9.37 TF FTH1
4 ferroxidase activity GO:0004322 9.32 FTH1 CP
5 transferrin transmembrane transporter activity GO:0033570 9.26 TFRC TFR2
6 transferrin receptor activity GO:0004998 9.16 TFRC TFR2
7 ferrous iron binding GO:0008198 9.13 TF ISCU FTH1
8 transferrin receptor binding GO:1990459 8.8 TF HJV HFE

Sources for Siderosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....