MCID: SPR066
MIFTS: 33

Superficial Siderosis

Categories: Neuronal diseases, Rare diseases

Aliases & Classifications for Superficial Siderosis

MalaCards integrated aliases for Superficial Siderosis:

Name: Superficial Siderosis 56

Characteristics:

Orphanet epidemiological data:

56
superficial siderosis
Inheritance: Not applicable; Age of onset: All ages;

Classifications:

Orphanet: 56  
Rare neurological diseases


External Ids:

Orphanet 56 ORPHA247245
ICD10 via Orphanet 34 I69.0

Summaries for Superficial Siderosis

MalaCards based summary : Superficial Siderosis is related to superficial siderosis of the central nervous system and siderosis. An important gene associated with Superficial Siderosis is FTH1 (Ferritin Heavy Chain 1), and among its related pathways/superpathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Insulin receptor recycling. The drugs Deferiprone and Iron have been mentioned in the context of this disorder. Affiliated tissues include brain, spinal cord and bone, and related phenotypes are hematopoietic system and liver/biliary system

Wikipedia : 72 Superficial hemosiderosis of the central nervous system is a disease of the brain resulting from chronic... more...

Related Diseases for Superficial Siderosis

Graphical network of the top 20 diseases related to Superficial Siderosis:



Diseases related to Superficial Siderosis

Symptoms & Phenotypes for Superficial Siderosis

MGI Mouse Phenotypes related to Superficial Siderosis:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 9.26 FTH1 HMOX1 LTF TF
2 liver/biliary system MP:0005370 8.8 FTH1 HMOX1 LTF

Drugs & Therapeutics for Superficial Siderosis

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


id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Deferiprone Approved 30652-11-0 2972
2
Iron Approved 7439-89-6 23925
3 Chelating Agents
4 Iron Chelating Agents

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Observational Study of Deferiprone (Ferriprox®) in the Treatment of Superficial Siderosis Active, not recruiting NCT01284127
2 Superficial Siderosis in Patients With Suspected Cerebral Amyloid Angiopathy Active, not recruiting NCT01856699
3 Florbetaben as an Amyloid Plaque Marker in Elderly Patients With Focal or Disseminated Superficial Hemosiderosis Not yet recruiting NCT02664571

Search NIH Clinical Center for Superficial Siderosis

Genetic Tests for Superficial Siderosis

Anatomical Context for Superficial Siderosis

MalaCards organs/tissues related to Superficial Siderosis:

39
Brain, Spinal Cord, Bone, Testes, Bone Marrow

Publications for Superficial Siderosis

Articles related to Superficial Siderosis:

(show top 50) (show all 302)
id Title Authors Year
1
Rare association of secondary superficial siderosis caused by a fourth ventricle hemorrhagic ependymoma mimicking a cavernoma: Case report and literature review. ( 28217393 )
2017
2
Intradural extramedullary cavernous malformation with extensive superficial siderosis of the neuraxis: Case report and review of literature. ( 28680728 )
2017
3
Teaching NeuroImages: Superficial siderosis due to a dural cervical arteriovenous fistula. ( 28220016 )
2017
4
Cortical Superficial Siderosis in Different Types of Cerebral Small Vessel Disease. ( 28364025 )
2017
5
Stroke: Cortical superficial siderosis absent in CADASIL. ( 28452354 )
2017
6
Case Report: A Comprehensive Neuropsychological Assessment of a Case of Superficial Siderosis. ( 28158476 )
2017
7
Aneurysmal wall imaging in a case of cortical superficial siderosis and multiple unruptured aneurysms. ( 28559509 )
2017
8
Superficial siderosis presenting as chronic migraine: Rare presentation of a rare disease. ( 28298848 )
2017
9
Cortical superficial siderosis and first-ever cerebral hemorrhage in cerebral amyloid angiopathy. ( 28356458 )
2017
10
Spinal meningeal diverticula, spontaneous intracranial hypotension, and superficial siderosis. ( 28130464 )
2017
11
Superficial siderosis of the central nervous system is a rare and possibly underdiagnosed disorder. ( 28226077 )
2017
12
Superficial siderosis of the central nervous system associated with intraspinal hemorrhage from ventral thoracic epidural veins and a ventral spinal CSF leak: case report. ( 28338451 )
2017
13
Characterizing Deep White Matter Hyperintensities in Patients with Symptomatic Isolated Cortical Superficial Siderosis. ( 28089561 )
2017
14
A case of superficial siderosis ameliorated after closure of dural deficit detected by MRI-CISS (constructive interference in steady state) imaging. ( 28367945 )
2017
15
Erratum: Rare association of secondary superficial siderosis caused by a fourth ventricle hemorrhagic ependymoma mimicking a cavernoma: Case report and literature review. ( 28540135 )
2017
16
Isolated spinal cord compression syndrome revealing delayed extensive superficial siderosis of the central nervous system secondary to cervical root avulsion. ( 28580859 )
2017
17
Deferiprone Reduces Hemosiderin Deposition in Superficial Siderosis. ( 27788692 )
2016
18
Superficial siderosis complicated by hydrocephalus: bleeding from the dura mater in the cerebrospinal fluid cavity after brain tumor surgery. ( 27117905 )
2016
19
Cerebral Microbleeds and Cortical Superficial Siderosis in Patients Presenting With Minor Cerebrovascular Events. ( 27507863 )
2016
20
Familial amyloid polyneuropathy involving a homozygous Val30Met mutation in the amyloidogenic transthyretin gene presenting with superficial siderosis: a case report. ( 27212678 )
2016
21
Case report: Superficial siderosis after brachial plexus avulsion. ( 26914142 )
2016
22
The value of eZIS analysis of Tc-99m ECD SPECT on identifying cerebellar hypoperfusion in a patient with superficial siderosis: A case report. ( 27893680 )
2016
23
Intraspinal hemorrhage in spontaneous intracranial hypotension: link to superficial siderosis? Report of 2 cases. ( 26588500 )
2016
24
Cortical Superficial Siderosis Presumed due to Cerebral Amyloid Angiopathy: Minimum Standards for Rating and Reporting. ( 26915571 )
2016
25
Intracranial dural arteriovenous fistula as a cause for symptomatic superficial siderosis: A report of two cases and review of the literature. ( 27127712 )
2016
26
Cortical Superficial Siderosis in Memory Clinic Patients: Further Evidence for Underlying Cerebral Amyloid Angiopathy. ( 26751369 )
2016
27
Infratentorial superficial siderosis: Classification, diagnostic criteria and rational investigation pathway. ( 28019651 )
2016
28
Corticobasal Syndrome Due to Superficial Siderosis Caused by Thalamic Cavernoma. ( 26844964 )
2016
29
Cortical superficial siderosis predicts early recurrent lobar hemorrhage. ( 27694268 )
2016
30
Superficial Siderosis of the Central Nervous System Originating from the Thoracic Spine: A Case Report. ( 27437021 )
2016
31
Chronic dorsal subdural haematoma: single aetiology for CNS superficial siderosis and myelopathy. ( 27055529 )
2016
32
Cerebral Amyloid Angiopathy as an Etiology for Cortical Superficial Siderosis: An Unproven Hypothesis. ( 26721767 )
2016
33
An autopsy case of superficial siderosis of the central nervous system accompanied by anterior sacral polycystic meningocele in neurofibromatosis type 1. ( 27356733 )
2016
34
Superficial siderosis and dural ectasia: A case report. ( 27754910 )
2016
35
Spinal subarachnoid hemorrhage in cortical superficial siderosis after apixaban and clopidogrel therapy. ( 26837378 )
2016
36
An autopsy case of cortical superficial siderosis with persistent abnormal behavior. ( 27090856 )
2016
37
Cortical superficial siderosis: Prevalence and biomarker profile in a memory clinic population. ( 27534713 )
2016
38
Superficial Siderosis. ( 27685823 )
2016
39
Superficial siderosis associated with peripheral autonomic failure and tetraventricular hydrocephalus: a case report. ( 27498096 )
2016
40
Superficial Siderosis after Germinal Matrix Hemorrhage. ( 27633808 )
2016
41
Sporadic cerebral amyloid angiopathy as a cause of relapsing lobar hemorrhage, convexal subarachnoid hemorrhage and cortical superficial siderosis. ( 27259571 )
2016
42
IV and V cranial nerves dysfunction as initial manifestations of superficial siderosis of the central nervous system. ( 26988173 )
2016
43
Aneurysmal wall imaging in a case of cortical superficial siderosis and multiple unruptured aneurysms. ( 27873743 )
2016
44
Superficial siderosis syndrome with progressive hearing loss and bilateral vestibular failure, 51 years after a neurosurgical procedure: diagnostic value of combined MRI and video head impulse test. ( 27981351 )
2016
45
Cerebrospinal Fluid Alzheimer's Disease Biomarkers in Isolated Supratentorial Cortical Superficial Siderosis. ( 27567848 )
2016
46
Cochlear implantation is a therapeutic option for superficial siderosis patients with sensorineural hearing loss. ( 26857965 )
2016
47
Superficial siderosis of the central nervous system induced by a single-episode of traumatic subarachnoid hemorrhage: a study using MRI-enhanced gradient echo T2 star-weighted angiography. ( 25647424 )
2015
48
Cortical Superficial Siderosis and Risk of Bleeding after Thrombolysis for Ischemic Stroke. ( 26351845 )
2015
49
Superficial siderosis of central nervous system of unknown cause. ( 25713424 )
2015
50
Clinical spectrum, underlying etiologies and radiological characteristics of cortical superficial siderosis. ( 25860345 )
2015

Variations for Superficial Siderosis

Expression for Superficial Siderosis

Search GEO for disease gene expression data for Superficial Siderosis.

Pathways for Superficial Siderosis

Pathways related to Superficial Siderosis according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1
Show member pathways
12.74 FTH1 HMOX1 TF
2
Show member pathways
11.88 FTH1 HMOX1 TF
3 11.57 FTH1 HMOX1
4 11.36 HMOX1 TF
5 11.13 HMOX1 TF
6 10.84 FTH1 HMOX1 TF
7 10.4 FTH1 HMOX1 TF
8 10.23 FTH1 TF

GO Terms for Superficial Siderosis

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

id Name GO ID Score Top Affiliating Genes
1 tertiary granule lumen GO:1904724 8.62 FTH1 LTF

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

id Name GO ID Score Top Affiliating Genes
1 cellular protein metabolic process GO:0044267 9.37 LTF TF
2 positive regulation of I-kappaB kinase/NF-kappaB signaling GO:0043123 9.32 HMOX1 LTF
3 retina homeostasis GO:0001895 9.26 LTF TF
4 iron ion transport GO:0006826 9.16 FTH1 TF
5 cellular iron ion homeostasis GO:0006879 9.13 FTH1 HMOX1 TF
6 iron ion homeostasis GO:0055072 8.8 HMOX1 LTF TF

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

id Name GO ID Score Top Affiliating Genes
1 metal ion binding GO:0046872 9.46 FTH1 HMOX1 LTF TF
2 iron ion binding GO:0005506 8.96 FTH1 LTF
3 ferric iron binding GO:0008199 8.62 FTH1 TF

Sources for Superficial Siderosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....