MCID: SPR066
MIFTS: 42

Superficial Siderosis

Categories: Neuronal diseases, Rare diseases

Aliases & Classifications for Superficial Siderosis

MalaCards integrated aliases for Superficial Siderosis:

Name: Superficial Siderosis 58 36
Superficial Hemosiderosis of the Central Nervous System 58
Superficial Siderosis of the Central Nervous System 58
Hemosiderosis of the Central Nervous System 58
Superficial Hemosiderosis of the Cns 58
Superficial Siderosis of the Cns 58

Characteristics:

Orphanet epidemiological data:

58
superficial siderosis
Inheritance: Not applicable; Age of onset: All ages;

Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

KEGG 36 H01846
ICD10 via Orphanet 33 I69.0
Orphanet 58 ORPHA247245

Summaries for Superficial Siderosis

KEGG : 36 Superficial siderosis is a rare condition caused by hemosiderin deposits in the central nervous system (CNS). Classical type of superficial siderosis primarily affects the infratentorial regions and spinal cord, and typically presents with slowly progressive sensorineural hearing impairment, cerebellar ataxia, and myelopathy. Hemosiderin deposition results from chronic intermittent or continuous minor bleeding into the subarachnoid space. The bleeding is caused by various pathologies, including tumors, meningocele and pseudomeningocele, vascular malformations, and trauma. But only less than 50% of cases have a definite bleeding source identified. A second type of brain siderosis restricted to the part of the cerebral hemispheres, has been identified and referred to as cortical superficial siderosis (CSS). CSS has a different range of potential causes and clinical presentation to classical type, but in older individuals is emerging as a key feature of cerebral amyloid angiopathy.

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 APOE (Apolipoprotein E), and among its related pathways/superpathways are Insulin receptor recycling and NRF2 pathway. The drug Deferiprone has been mentioned in the context of this disorder. Affiliated tissues include spinal cord, bone marrow and cortex, and related phenotypes are seizures and abnormal pyramidal sign

Wikipedia : 73 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 175)
# Related Disease Score Top Affiliating Genes
1 superficial siderosis of the central nervous system 31.8 TF LTF FTH1
2 siderosis 30.3 TF LTF HMOX1 FTH1 APOE
3 normal pressure hydrocephalus 29.7 TF APOE
4 hemochromatosis, type 1 29.6 TF HMOX1 FTH1
5 ataxia and polyneuropathy, adult-onset 10.9
6 cerebral amyloid angiopathy, cst3-related 10.8
7 sensorineural hearing loss 10.8
8 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.8
9 branchiootic syndrome 1 10.7
10 benign ependymoma 10.5
11 cellular ependymoma 10.5
12 hydrocephalus 10.4
13 alzheimer disease 10.4
14 arteriovenous malformation 10.4
15 intracranial hypotension 10.3
16 pathologic nystagmus 10.3
17 spastic paraparesis 10.3
18 headache 10.3
19 hemosiderosis 10.3
20 mild cognitive impairment 10.3
21 myxopapillary ependymoma 10.3
22 cavernous malformation 10.3
23 glioma susceptibility 1 10.2
24 paraganglioma 10.2
25 malignant astrocytoma 10.2
26 meningeal melanocytoma 10.2
27 granulocytopenia 10.2
28 back pain 10.2
29 head injury 10.2
30 spontaneous intracranial hypotension 10.2
31 amyotrophic lateral sclerosis 1 10.1
32 medulloblastoma 10.1
33 meningioma, familial 10.1
34 intracranial meningioma 10.1
35 neurogenic bladder 10.1
36 dementia 10.1
37 transient cerebral ischemia 10.1
38 lateral sclerosis 10.1
39 secretory meningioma 10.1
40 lymphoplasmacyte-rich meningioma 10.1
41 pilocytic astrocytoma 10.1
42 neurofibromatosis 10.1
43 tremor 10.1
44 hemifacial spasm, familial 10.1
45 chorea, childhood-onset, with psychomotor retardation 10.1
46 choreatic disease 10.1
47 hemifacial spasm 10.1
48 amyloidosis, hereditary, transthyretin-related 10.1
49 cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 10.1
50 pituitary adenoma, prolactin-secreting 10.1

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



Diseases related to Superficial Siderosis

Symptoms & Phenotypes for Superficial Siderosis

Human phenotypes related to Superficial Siderosis:

58 (show all 49)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 seizures 58 Very rare (<4-1%)
2 abnormal pyramidal sign 58 Occasional (29-5%)
3 ataxia 58 Very frequent (99-80%)
4 dysarthria 58 Occasional (29-5%)
5 cognitive impairment 58 Frequent (79-30%)
6 vomiting 58 Occasional (29-5%)
7 slurred speech 58 Occasional (29-5%)
8 arteriovenous malformation 58 Occasional (29-5%)
9 back pain 58 Occasional (29-5%)
10 vertigo 58 Occasional (29-5%)
11 neoplasm of the central nervous system 58 Occasional (29-5%)
12 impaired pain sensation 58 Occasional (29-5%)
13 anosmia 58 Occasional (29-5%)
14 paresthesia 58 Occasional (29-5%)
15 dysmetria 58 Occasional (29-5%)
16 dysdiadochokinesis 58 Occasional (29-5%)
17 internal hemorrhage 58 Frequent (79-30%)
18 headache 58 Occasional (29-5%)
19 memory impairment 58 Occasional (29-5%)
20 abnormal bleeding 58 Frequent (79-30%)
21 subarachnoid hemorrhage 58 Occasional (29-5%)
22 babinski sign 58 Occasional (29-5%)
23 cerebellar atrophy 58 Frequent (79-30%)
24 dementia 58 Occasional (29-5%)
25 unsteady gait 58 Occasional (29-5%)
26 frequent falls 58 Occasional (29-5%)
27 progressive gait ataxia 58 Frequent (79-30%)
28 impaired temperature sensation 58 Occasional (29-5%)
29 bilateral sensorineural hearing impairment 58 Very frequent (99-80%)
30 abnormality of the cerebellar vermis 58 Occasional (29-5%)
31 abnormality of the spinal cord 58 Occasional (29-5%)
32 atrophy/degeneration affecting the brainstem 58 Occasional (29-5%)
33 abnormality of the brachial nerve plexus 58 Very rare (<4-1%)
34 limb ataxia 58 Occasional (29-5%)
35 abnormal corpus callosum morphology 58 Frequent (79-30%)
36 atrophy of the spinal cord 58 Occasional (29-5%)
37 functional abnormality of the bladder 58 Occasional (29-5%)
38 lower limb muscle weakness 58 Frequent (79-30%)
39 difficulty standing 58 Occasional (29-5%)
40 nausea 58 Occasional (29-5%)
41 persistent bleeding after trauma 58 Occasional (29-5%)
42 increased csf protein 58 Occasional (29-5%)
43 abnormality of the cerebrospinal fluid 58 Occasional (29-5%)
44 abnormality of the vestibulocochlear nerve 58 Very frequent (99-80%)
45 partial anosmia 58 Occasional (29-5%)
46 anisocoria 58 Occasional (29-5%)
47 dysgyria 58 Occasional (29-5%)
48 enlarged sylvian cistern 58 Occasional (29-5%)
49 abnormal vertebral artery morphology 58 Very rare (<4-1%)

MGI Mouse Phenotypes related to Superficial Siderosis:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 9.55 APOE FTH1 HMOX1 LTF TF
2 immune system MP:0005387 9.35 APOE FTH1 HMOX1 LTF TF
3 liver/biliary system MP:0005370 8.92 APOE 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

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Observational Study on the Prognostic Relevance of Supratentorial Superficial Siderosis in Patients With Suspected Cerebral Amyloid Angiopathy Unknown status NCT01856699
2 Phase IV Observational Study of Deferiprone (Ferriprox®) in the Treatment of Superficial Siderosis Completed NCT01284127
3 Clinical and Imaging Biomarkers of Audiovestibular Function in Infratentorial Superficial Siderosis Recruiting NCT04200664
4 COrtical Superficial Siderosis and REcurrent Lobar Intracerebral Hemorrhage in Cerebral Amyloid Angiopathy. Recruiting NCT03464344

Search NIH Clinical Center for Superficial Siderosis

Genetic Tests for Superficial Siderosis

Anatomical Context for Superficial Siderosis

MalaCards organs/tissues related to Superficial Siderosis:

40
Spinal Cord, Bone Marrow, Cortex, Cerebellum, Pineal, Pituitary

Publications for Superficial Siderosis

Articles related to Superficial Siderosis:

(show top 50) (show all 597)
# Title Authors PMID Year
1
Susceptibility-weighted Imaging: Technical Essentials and Clinical Neurologic Applications. 61
33620291 2021
2
Stopping "transient ischemic attacks" by antiplatelet withdrawal. 61
33789747 2021
3
One-year prognosis of non-traumatic cortical subarachnoid haemorrhage: A prospective series of 34 patients. 61
29903393 2021
4
Superficial siderosis of the central nervous system associated with ventral dural defects: bleeding from the epidural venous plexus. 61
33389031 2021
5
Cochlear Implantation in Sporadic Vestibular Schwannoma and Other Retrocochlear Pathology: A Case Series. 61
33351558 2021
6
Superficial siderosis due to multiple cavernomas: an uncommon cause of early-onset dementia. 61
33655606 2021
7
Persistence and regredience of intraspinal fluid collection determine symptom control in intracranial hypotension syndrome. 61
32748098 2021
8
Isolated cognitive dysfunction in the presence of superficial siderosis after meningioma resection at the cervicothoracic junction. 61
33731405 2021
9
Perfusion-weighted MRI in cerebral amyloid angiopathy-related transient focal neurological episodes. 61
33754233 2021
10
Association between cortical microinfarcts and total small vessel disease burden in cerebral amyloid angiopathy on 3-Tesla magnetic resonance imaging. 61
33098163 2021
11
New horizons: managing antithrombotic dilemmas in patients with cerebral amyloid angiopathy. 61
33480964 2021
12
Cerebral amyloid angiopathy-related inflammation: current status and future implications. 61
33625036 2021
13
Evaluation of cortical superficial siderosis in patients with cognitive dysfunction using 3D FLAIR and 3D DIR. 61
33630158 2021
14
The Predictive Values of Different Small Vessel Disease Scores on Clinical Outcomes in Mild ICH Patients. 61
33551444 2021
15
Long-Term Vascular Outcomes in Patients With Mixed Location Intracerebral Hemorrhage and Microbleeds. 61
33361256 2021
16
CT-Visible Convexity Subarachnoid Hemorrhage is Associated With Cortical Superficial Siderosis and Predicts Recurrent ICH. 61
33087495 2021
17
Association of amyloid angiopathy with microbleeds in logopenic progressive aphasia: an imaging-pathology study. 61
33068458 2021
18
Idiopathic superficial siderosis of the central nervous system. 61
33632336 2021
19
Hyperkinetic manifestations in superficial siderosis: evidence for pathogenic network disruption. 61
33001408 2021
20
Imaging of vascular cognitive impairment. 61
33434866 2021
21
Unusual Presentation in Infratentorial Superficial Siderosis: Acute Intracranial Hypertension. 61
33613238 2021
22
Treatment Response of Deferiprone in Infratentorial Superficial Siderosis: a Systematic Review. 61
33409768 2021
23
Cortical superficial siderosis in the general population: The Framingham Heart and Rotterdam studies. 61
33478376 2021
24
Intracerebral Hemorrhage Recurrence in Patients with and without Cerebral Amyloid Angiopathy. 61
33503633 2021
25
Early MRI imaging and follow-up study in cerebral amyloid angiopathy. 61
33623821 2021
26
Novel in vivo depiction of optic nerves hemorrhages in child abuse: a 3D-SWI pilot study. 61
33471158 2021
27
Radiologically atypical paraganglioma of the filum terminale as a rare cause of superficial siderosis of the central nervous system. 61
32152998 2020
28
Outcomes of Cochlear Implantation in Patients with Superficial Siderosis: A Systematic Review and Narrative Synthesis. 61
33136027 2020
29
Clinical and radiological differences between patients with probable cerebral amyloid angiopathy and mixed cerebral microbleeds. 61
32638111 2020
30
Neuropathological correlates of cortical superficial siderosis in cerebral amyloid angiopathy. 61
32935842 2020
31
MRI phenotyping of underlying cerebral small vessel disease in mixed hemorrhage patients. 61
33068905 2020
32
Spinal muscular atrophy type III complicated by spinal superficial siderosis: a case report with molecular and neuropathological findings. 61
33168084 2020
33
Superficial siderosis of the central nervous system in a patient with asymptomatic sacral paraganglioma as source of chronic bleeding. 61
32959357 2020
34
Acute convexity subarachnoid hemorrhage (cSAH) in infectious endocarditis (IE): imaging features and follow-up. 61
32494850 2020
35
Spinal dural leaks in patients with infratentorial superficial siderosis of the central nervous system-Refinement of a diagnostic algorithm. 61
33098710 2020
36
Cerebral amyloid angiopathy with focal presentation-about 3 cases. 61
32415390 2020
37
Efficacy and Safety of Direct Oral Anticoagulant for Treatment of Atrial Fibrillation in Cerebral Amyloid Angiopathy. 61
32884877 2020
38
Subarachnoid extension of lobar hemorrhage on acute/subacute MRI is associated with cerebral amyloid angiopathy criteria. 61
30539379 2020
39
Interhemispheric distribution of amyloid and small vessel disease burden in cerebral amyloid angiopathy-related intracerebral hemorrhage. 61
32394598 2020
40
Superficial siderosis with rapid progressive cognitive decline. 61
32157586 2020
41
Superficial siderosis treated with dural tear repair and deferiprone. 61
32862138 2020
42
Transdural Thoracic Disk Herniation with Longitudinal Slitlike Dural Defect Causing Intracranial Hypotension: Report of 2 Cases. 61
32439561 2020
43
Combining Imaging and Genetics to Predict Recurrence of Anticoagulation-Associated Intracerebral Hemorrhage. 61
32517581 2020
44
Spontaneous Intracranial Hypotension Followed by Intracranial Hypertension. 61
32618842 2020
45
Cerebrospinal fluid folate, ascorbate, and tetrahydrobiopterin deficiency in superficial siderosis: A new potential mechanism of neurological dysfunction? 61
32380298 2020
46
Superficial Siderosis of the Central Nervous System Caused by Glioneuronal Tumor: A Case Report and Literature Review. 61
32859836 2020
47
A Combination of Magnetic Resonance Imaging Techniques to Localize the Dural Defect in a Case of Superficial Siderosis-A Case Report. 61
32630364 2020
48
Superficial Siderosis Associated with Long-Term Recurrence of Pilocytic Astrocytoma in an Elderly Person. 61
32229301 2020
49
Multiple cavernous malformations as a cause for superficial siderosis of the central nervous system. 61
31784939 2020
50
Superficial siderosis and intracranial hypotension syndrome following brachial plexus avulsion injury. A case of surgical treatment. 61
32058204 2020

Variations for Superficial Siderosis

Expression for Superficial Siderosis

Search GEO for disease gene expression data for Superficial Siderosis.

Pathways for Superficial Siderosis

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 extracellular region GO:0005576 9.71 TF LTF FTH1 APOE
2 extracellular exosome GO:0070062 9.56 TF LTF FTH1 APOE
3 extracellular space GO:0005615 9.46 TF LTF HMOX1 APOE
4 blood microparticle GO:0072562 9.37 TF APOE
5 recycling endosome GO:0055037 9.32 TF LTF
6 tertiary granule lumen GO:1904724 8.96 LTF FTH1
7 early endosome GO:0005769 8.8 TF LTF APOE

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

# Name GO ID Score Top Affiliating Genes
1 negative regulation of neuron apoptotic process GO:0043524 9.43 HMOX1 APOE
2 cellular protein metabolic process GO:0044267 9.43 TF LTF APOE
3 response to oxidative stress GO:0006979 9.4 HMOX1 APOE
4 antibacterial humoral response GO:0019731 9.37 TF LTF
5 cellular iron ion homeostasis GO:0006879 9.33 TF HMOX1 FTH1
6 retina homeostasis GO:0001895 9.32 TF LTF
7 iron ion homeostasis GO:0055072 9.13 TF LTF HMOX1
8 iron ion transport GO:0006826 8.8 TF LTF FTH1

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

# Name GO ID Score Top Affiliating Genes
1 heparin binding GO:0008201 9.26 LTF APOE
2 iron ion binding GO:0005506 9.16 LTF FTH1
3 ferrous iron binding GO:0008198 8.96 TF FTH1
4 ferric iron binding GO:0008199 8.62 TF FTH1

Sources for Superficial Siderosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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