MCID: SPR066
MIFTS: 40

Superficial Siderosis

Categories: Neuronal diseases, Rare diseases

Aliases & Classifications for Superficial Siderosis

MalaCards integrated aliases for Superficial Siderosis:

Name: Superficial Siderosis 59 37
Superficial Hemosiderosis of the Central Nervous System 59
Superficial Siderosis of the Central Nervous System 59
Hemosiderosis of the Central Nervous System 59
Superficial Hemosiderosis of the Cns 59
Superficial Siderosis of the Cns 59

Characteristics:

Orphanet epidemiological data:

59
superficial siderosis
Inheritance: Not applicable; Age of onset: All ages;

Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

Orphanet 59 ORPHA247245
ICD10 via Orphanet 34 I69.0
KEGG 37 H01846

Summaries for Superficial Siderosis

MalaCards based summary : Superficial Siderosis, also known as superficial hemosiderosis of the central nervous system, 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 testes, and related phenotypes are hematopoietic system and liver/biliary system

Wikipedia : 76 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 67)
# Related Disease Score Top Affiliating Genes
1 superficial siderosis of the central nervous system 32.3 FTH1 LTF TF
2 siderosis 30.2 FTH1 HMOX1 TF
3 cerebritis 10.5
4 cerebral amyloid angiopathy, cst3-related 10.5
5 hemosiderosis 10.4
6 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.3
7 sensorineural hearing loss 10.2
8 ependymoma 10.2
9 meningitis 10.2
10 cervicitis 10.2
11 cavernous malformation 10.1
12 hydrocephalus 10.1
13 aneurysm 10.1
14 intracranial hypotension 10.1
15 meningeal melanocytoma 10.1
16 alzheimer disease 10.0
17 arteriovenous malformation 10.0
18 headache 10.0
19 spontaneous intracranial hypotension 10.0
20 arteriovenous fistula 10.0
21 amyotrophic lateral sclerosis 1 9.9
22 lateral sclerosis 9.9
23 multiple sclerosis 9.9
24 paraganglioma 9.9
25 neurofibromatosis, type i 9.9
26 polyradiculopathy 9.9
27 back pain 9.9
28 meningocele 9.9
29 myxopapillary ependymoma 9.9
30 aceruloplasminemia 9.9
31 encephalopathy 9.9
32 amyloidosis 9.9
33 cardiomyopathy, familial hypertrophic, 9 9.8 FTH1 TF
34 cerebral hemorrhage 9.8
35 autosomal dominant cerebellar ataxia 9.8
36 hemangioma 9.8
37 epilepsy 9.8
38 type i 9.8
39 amyloidosis, hereditary, transthyretin-related 9.8
40 melanoma 9.8
41 motor neuron disease 9.8
42 germ cells tumors 9.8
43 arteriovenous malformations of the brain 9.8
44 traumatic brain injury 9.8
45 papillary glioneuronal tumors 9.8
46 teratoma 9.8
47 sudden sensorineural hearing loss 9.8
48 marfan syndrome 9.8
49 focal dystonia 9.8
50 thrombosis 9.8

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:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 9.26 LTF TF FTH1 HMOX1
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):


# 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:


# Name Status NCT ID Phase Drugs
1 Observational Study of Deferiprone (Ferriprox®) in the Treatment of Superficial Siderosis Completed NCT01284127
2 European Prevention of Alzheimer's Dementia (EPAD) Longitudinal Cohort Study (LCS) Recruiting NCT02804789
3 Superficial Siderosis in Patients With Suspected Cerebral Amyloid Angiopathy Active, not recruiting NCT01856699
4 Cortical Superficial Siderosis and Risk of Recurrent Intracerebral Hemorrhage in Cerebral Amyloid Angiopathy. Not yet recruiting NCT03464344 Not Applicable
5 Florbetaben as an Amyloid Plaque Marker in Elderly Patients With Focal or Disseminated Superficial Hemosiderosis Not yet recruiting NCT02664571 Not Applicable

Search NIH Clinical Center for Superficial Siderosis

Genetic Tests for Superficial Siderosis

Anatomical Context for Superficial Siderosis

MalaCards organs/tissues related to Superficial Siderosis:

41
Brain, Spinal Cord, Testes, Bone, Pineal, Bone Marrow

Publications for Superficial Siderosis

Articles related to Superficial Siderosis:

(show top 50) (show all 325)
# Title Authors Year
1
CT and MR myelography in superficial siderosis. ( 29429117 )
2018
2
Two-year observational study of deferiprone in superficial siderosis. ( 29285884 )
2018
3
Clival meningocele causing bilateral hearing loss in a child due to superficial siderosis of the central nervous system: case report. ( 29451456 )
2018
4
Superficial Siderosis Associated with Pineal Cavernous Malformation. ( 29017984 )
2018
5
Focal cortical superficial siderosis due to hemorrhagic transformation of cortical microinfarction. ( 29732518 )
2018
6
Letter by Guo et al Regarding Article, "Prevalence and Natural History of Superficial Siderosis: A Population-Based Study". ( 29472280 )
2018
7
Cortical superficial siderosis and acute convexity subarachnoid hemorrhage in cerebral amyloid angiopathy. ( 29053885 )
2018
8
The mysterious case of bilateral sensory neural hearing loss (superficial siderosis). ( 29766953 )
2018
9
Superficial Siderosis and Dural Ectasia in aA Patient with Marfan Syndrome. ( 29468260 )
2018
10
Cortical superficial siderosis: A prospective observational cohort study. ( 29884737 )
2018
11
Vestibular Dysfunction in Patients With Superficial Siderosis of the Central Nervous System. ( 29889788 )
2018
12
Bilateral Vestibulopathy in Superficial Siderosis. ( 29928256 )
2018
13
Spinal endoscopy combined with selective CT myelography for dural closure of the spinal dural defect with superficial siderosis: technical note. ( 29087811 )
2018
14
Atrophy patterns in cerebral amyloid angiopathy with and without cortical superficial siderosis. ( 29678935 )
2018
15
Focused Neuro-Otological Review of Superficial Siderosis of the Central Nervous System. ( 29892257 )
2018
16
Idiopathic infratentorial superficial siderosis of the central nervous system: case report and review of literature. ( 29122310 )
2018
17
Acute convexity subarachnoid haemorrhage and cortical superficial siderosis in probable cerebral amyloid angiopathy without lobar haemorrhage. ( 29054916 )
2017
18
Superficial siderosis of central nervous system with unknown cause: report of 2 cases and review of the literature. ( 29160113 )
2017
19
Cortical Superficial Siderosis in Different Types of Cerebral Small Vessel Disease. ( 28364025 )
2017
20
Intradural extramedullary cavernous malformation with extensive superficial siderosis of the neuraxis: Case report and review of literature. ( 28680728 )
2017
21
Case Report: A Comprehensive Neuropsychological Assessment of a Case of Superficial Siderosis. ( 28158476 )
2017
22
Superficial siderosis presenting as chronic migraine: Rare presentation of a rare disease. ( 28298848 )
2017
23
Aneurysmal wall imaging in a case of cortical superficial siderosis and multiple unruptured aneurysms. ( 28559509 )
2017
24
Spinal meningeal diverticula, spontaneous intracranial hypotension, and superficial siderosis. ( 28130464 )
2017
25
Isolated spinal cord compression syndrome revealing delayed extensive superficial siderosis of the central nervous system secondary to cervical root avulsion. ( 28580859 )
2017
26
Erratum: Rare association of secondary superficial siderosis caused by a fourth ventricle hemorrhagic ependymoma mimicking a cavernoma: Case report and literature review. ( 28540135 )
2017
27
Cortical superficial siderosis and first-ever cerebral hemorrhage in cerebral amyloid angiopathy. ( 28356458 )
2017
28
Superficial Siderosis Associated with a Spinal Dural Defect. ( 28978812 )
2017
29
Rare association of secondary superficial siderosis caused by a fourth ventricle hemorrhagic ependymoma mimicking a cavernoma: Case report and literature review. ( 28217393 )
2017
30
Characterizing Deep White Matter Hyperintensities in Patients with Symptomatic Isolated Cortical Superficial Siderosis. ( 28089561 )
2017
31
Cortical superficial siderosis multifocality in cerebral amyloid angiopathy: A prospective study. ( 29070669 )
2017
32
Prevalence and clinical characteristics of cortical superficial siderosis in patients with acute stroke. ( 29063241 )
2017
33
Ischemic lesions and superficial siderosis in CAA: Partners in crime or innocent bystanders? ( 29070660 )
2017
34
A case of superficial siderosis ameliorated after closure of dural deficit detected by MRI-CISS (constructive interference in steady state) imaging. ( 28367945 )
2017
35
Superficial siderosis of the central nervous system is a rare and possibly underdiagnosed disorder. ( 28226077 )
2017
36
Teaching NeuroImages: Superficial siderosis due to a dural cervical arteriovenous fistula. ( 28220016 )
2017
37
Stroke: Cortical superficial siderosis absent in CADASIL. ( 28452354 )
2017
38
Prevalence and Natural History of Superficial Siderosis: A Population-Based Study. ( 29070715 )
2017
39
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
40
Spinal subarachnoid hemorrhage in cortical superficial siderosis after apixaban and clopidogrel therapy. ( 26837378 )
2016
41
Infratentorial superficial siderosis: Classification, diagnostic criteria and rational investigation pathway. ( 28019651 )
2016
42
Superficial Siderosis. ( 27685823 )
2016
43
Aneurysmal wall imaging in a case of cortical superficial siderosis and multiple unruptured aneurysms. ( 27873743 )
2016
44
Familial amyloid polyneuropathy involving a homozygous Val30Met mutation in the amyloidogenic transthyretin gene presenting with superficial siderosis: a case report. ( 27212678 )
2016
45
Superficial siderosis and dural ectasia: A case report. ( 27754910 )
2016
46
Chronic dorsal subdural haematoma: single aetiology for CNS superficial siderosis and myelopathy. ( 27055529 )
2016
47
An autopsy case of cortical superficial siderosis with persistent abnormal behavior. ( 27090856 )
2016
48
Cochlear implantation is a therapeutic option for superficial siderosis patients with sensorineural hearing loss. ( 26857965 )
2016
49
Cortical Superficial Siderosis in Memory Clinic Patients: Further Evidence for Underlying Cerebral Amyloid Angiopathy. ( 26751369 )
2016
50
Cortical superficial siderosis: Prevalence and biomarker profile in a memory clinic population. ( 27534713 )
2016

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:

# 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 11.37 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:

# Name GO ID Score Top Affiliating Genes
1 tertiary granule lumen GO:1904724 8.96 FTH1 LTF
2 signal recognition particle receptor complex GO:0005785 8.62 LTF TF

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

# 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:

# Name GO ID Score Top Affiliating Genes
1 metal ion binding GO:0046872 9.56 FTH1 HMOX1 LTF TF
2 iron ion binding GO:0005506 9.16 FTH1 LTF
3 ferric iron binding GO:0008199 8.96 FTH1 TF
4 signal recognition particle binding GO:0005047 8.62 LTF TF

Sources for Superficial Siderosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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