MCID: SPR066
MIFTS: 34

Superficial Siderosis malady

Categories: Neuronal diseases, Rare diseases

Aliases & Classifications for Superficial Siderosis

Aliases & Descriptions 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 Iron and Deferiprone 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 : 71 Superficial hemosiderosis of the central nervous system is a disease of the brain resulting from chronic... more...

Related Diseases for Superficial Siderosis

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

(show top 50) (show all 62)
id Related Disease Score Top Affiliating Genes
1 superficial siderosis of the central nervous system 12.5
2 siderosis 10.9
3 cerebritis 10.4
4 cerebral amyloid angiopathy 10.3
5 sensorineural hearing loss 10.1
6 ataxia 10.1
7 ependymoma 10.1
8 meningitis 10.0
9 meningeal melanocytoma 10.0
10 hydrocephalus 10.0
11 cervicitis 10.0
12 aneurysm 9.9
13 intracranial hypotension 9.9
14 cavernous malformation 9.9
15 headache 9.9
16 arteriovenous malformation 9.9
17 cardiomyopathy, dilated, 1g 9.9 FTH1 TF
18 handl syndrome 9.8 LTF TF
19 paraganglioma 9.8
20 polyradiculopathy 9.8
21 back pain 9.8
22 myxopapillary ependymoma 9.8
23 encephalopathy 9.8
24 alzheimer disease 9.8
25 neurofibromatosis 9.8
26 spontaneous intracranial hypotension 9.8
27 arteriovenous fistula 9.8
28 amyloidosis 9.8
29 lateral sclerosis 9.8
30 benign idiopathic neonatal seizures 9.8 LTF TF
31 membranoproliferative glomerulonephritis 9.8 LTF TF
32 spastic entropion 9.8 LTF TF
33 nasu-hakola disease 9.7 FTH1 HMOX1 TF
34 blind hypotensive eye 9.7 LTF TF
35 sutton disease 2 9.7 FTH1 LTF TF
36 traumatic brain injury 9.7
37 teratoma 9.7
38 vascular malformation 9.7
39 aceruloplasminemia 9.7
40 leptomeningeal amyloidosis 9.7
41 craniopharyngioma 9.7
42 focal dystonia 9.7
43 thrombosis 9.7
44 cerebellar ataxia 9.7
45 dystonia 9.7
46 meningocele 9.7
47 neurofibromatosis, type 1 9.7
48 intracranial aneurysm 9.7
49 neuronitis 9.7
50 papillary glioneuronal tumor 9.7

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
Iron Approved Phase 4 7439-89-6 23925
2
Deferiprone Approved Phase 4 30652-11-0 2972
3 Chelating Agents Phase 4
4 Iron Chelating Agents Phase 4

Interventional clinical trials:


id Name Status NCT ID Phase
1 Observational Study of Deferiprone (Ferriprox®) in the Treatment of Superficial Siderosis Active, not recruiting NCT01284127 Phase 4
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 288)
id Title Authors Year
1
Cortical superficial siderosis and first-ever cerebral hemorrhage in cerebral amyloid angiopathy. ( 28356458 )
2017
2
Characterizing Deep White Matter Hyperintensities in Patients with Symptomatic Isolated Cortical Superficial Siderosis. ( 28089561 )
2017
3
Superficial siderosis and dural ectasia: A case report. ( 27754910 )
2016
4
An autopsy case of superficial siderosis of the central nervous system accompanied by anterior sacral polycystic meningocele in neurofibromatosis type 1. ( 27356733 )
2016
5
Superficial Siderosis after Germinal Matrix Hemorrhage. ( 27633808 )
2016
6
IV and V cranial nerves dysfunction as initial manifestations of superficial siderosis of the central nervous system. ( 26988173 )
2016
7
Chronic dorsal subdural haematoma: single aetiology for CNS superficial siderosis and myelopathy. ( 27055529 )
2016
8
Deferiprone Reduces Hemosiderin Deposition in Superficial Siderosis. ( 27788692 )
2016
9
Sporadic cerebral amyloid angiopathy as a cause of relapsing lobar hemorrhage, convexal subarachnoid hemorrhage and cortical superficial siderosis. ( 27259571 )
2016
10
Case report: Superficial siderosis after brachial plexus avulsion. ( 26914142 )
2016
11
Spinal subarachnoid hemorrhage in cortical superficial siderosis after apixaban and clopidogrel therapy. ( 26837378 )
2016
12
Superficial Siderosis. ( 27685823 )
2016
13
Cochlear implantation is a therapeutic option for superficial siderosis patients with sensorineural hearing loss. ( 26857965 )
2016
14
Cortical superficial siderosis: Prevalence and biomarker profile in a memory clinic population. ( 27534713 )
2016
15
Superficial siderosis associated with peripheral autonomic failure and tetraventricular hydrocephalus: a case report. ( 27498096 )
2016
16
Cortical superficial siderosis predicts early recurrent lobar hemorrhage. ( 27694268 )
2016
17
Intraspinal hemorrhage in spontaneous intracranial hypotension: link to superficial siderosis? Report of 2 cases. ( 26588500 )
2016
18
An autopsy case of cortical superficial siderosis with persistent abnormal behavior. ( 27090856 )
2016
19
Cortical Superficial Siderosis Presumed due to Cerebral Amyloid Angiopathy: Minimum Standards for Rating and Reporting. ( 26915571 )
2016
20
Corticobasal Syndrome Due to Superficial Siderosis Caused by Thalamic Cavernoma. ( 26844964 )
2016
21
Cerebral Amyloid Angiopathy as an Etiology for Cortical Superficial Siderosis: An Unproven Hypothesis. ( 26721767 )
2016
22
Cerebrospinal Fluid Alzheimer's Disease Biomarkers in Isolated Supratentorial Cortical Superficial Siderosis. ( 27567848 )
2016
23
Aneurysmal wall imaging in a case of cortical superficial siderosis and multiple unruptured aneurysms. ( 27873743 )
2016
24
Familial amyloid polyneuropathy involving a homozygous Val30Met mutation in the amyloidogenic transthyretin gene presenting with superficial siderosis: a case report. ( 27212678 )
2016
25
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
26
Infratentorial superficial siderosis: Classification, diagnostic criteria and rational investigation pathway. ( 28019651 )
2016
27
Cerebral Microbleeds and Cortical Superficial Siderosis in Patients Presenting With Minor Cerebrovascular Events. ( 27507863 )
2016
28
Cortical Superficial Siderosis in Memory Clinic Patients: Further Evidence for Underlying Cerebral Amyloid Angiopathy. ( 26751369 )
2016
29
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
30
Intracranial dural arteriovenous fistula as a cause for symptomatic superficial siderosis: A report of two cases and review of the literature. ( 27127712 )
2016
31
Superficial siderosis complicated by hydrocephalus: bleeding from the dura mater in the cerebrospinal fluid cavity after brain tumor surgery. ( 27117905 )
2016
32
Superficial Siderosis of the Central Nervous System Originating from the Thoracic Spine: A Case Report. ( 27437021 )
2016
33
The Characteristics of Superficial Siderosis and Convexity Subarachnoid Hemorrhage and Clinical Relevance in Suspected Cerebral Amyloid Angiopathy. ( 25871492 )
2015
34
Cochlear Implantation in Patients With Superficial Siderosis: Seven Cases and Systematic Review of the Literature. ( 26065403 )
2015
35
Bilateral Vestibulopathy Documented by Video Head Impulse Tests in Superficial Siderosis. ( 26440725 )
2015
36
Superficial siderosis of the central nervous system with seizures onset. ( 26512155 )
2015
37
Superficial siderosis of central nervous system of unknown cause. ( 25713424 )
2015
38
Prevalence of superficial siderosis following singular, acute aneurysmal subarachnoid hemorrhage. ( 25534525 )
2015
39
Cortical superficial siderosis, APOE genotype, and hemorrhage risk in cerebral amyloid angiopathy. ( 25716363 )
2015
40
Cortical superficial siderosis: detection and clinical significance in cerebral amyloid angiopathy and related conditions. ( 26115675 )
2015
41
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
42
Cortical superficial siderosis: a marker of vascular amyloid in patients with cognitive impairment. ( 25632096 )
2015
43
Superficial siderosis of the central nervous system: A case report. ( 25780438 )
2015
44
Diagnostic Significance of Cortical Superficial Siderosis for Alzheimer Disease in Patients with Cognitive Impairment. ( 26450535 )
2015
45
Cortical Superficial Siderosis and Risk of Bleeding after Thrombolysis for Ischemic Stroke. ( 26351845 )
2015
46
Superficial siderosis following spontaneous intracranial hypotension. ( 26139598 )
2015
47
Clinical spectrum, underlying etiologies and radiological characteristics of cortical superficial siderosis. ( 25860345 )
2015
48
Superficial siderosis of the central nervous system associated with incomplete dural closure following posterior fossa surgery: report of 3 cases. ( 26067619 )
2015
49
Cervical Spinal Meningeal Melanocytoma Presenting as Intracranial Superficial Siderosis. ( 26770862 )
2015
50
Superficial siderosis of the central nervous system. ( 26240112 )
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 Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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