HDLS
MCID: LKN025
MIFTS: 66

Leukoencephalopathy, Hereditary Diffuse, with Spheroids (HDLS)

Categories: Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Leukoencephalopathy, Hereditary Diffuse, with Spheroids

MalaCards integrated aliases for Leukoencephalopathy, Hereditary Diffuse, with Spheroids:

Name: Leukoencephalopathy, Hereditary Diffuse, with Spheroids 57
Hereditary Diffuse Leukoencephalopathy with Spheroids 12 20 58 36 29 6 70
Adult-Onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia 12 20 43 58 15
Hdls 57 20 58 72
Alsp 57 43 58 72
Autosomal Dominant Leukoencephalopathy with Neuroaxonal Spheroids 20 58 72
Leukoencephalopathy, Diffuse Hereditary, with Spheroids 57 20 72
Subcortical Gliosis of Neumann 57 58 72
Gpsc 57 58 72
Hereditary Diffuse Leukoencephalopathy with Axonal Spheroids and Pigmented Glia 43 58
Leukoencephalopathy, Adult-Onset, with Axonal Spheroids and Pigmented Glia 57 72
Gliosis, Familial Progressive Subcortical 57 13
Pigmentary Orthochromatic Leukodystrophy 20 58
Familial Progressive Subcortical Gliosis 58 72
Gliosis 44 70
Pold 20 58
Leukoencephalopathy, Adult-Onset, with Axonal Spheroids and Pigmented Glia; Alsp 57
Leukoencephalopathy with Neuroaxonal Spheroids, Autosomal Dominant 57
Hereditary Diffuse Leukoencephalopathy with Axonal Spheroids 20
Leukoencephalopathy, Diffuse Hereditary, with Spheroid 39
Adult-Onset Leukodystrophy with Neuroaxonal Spheroids 20
Gliosis, Familial Progressive Subcortical; Gpsc 57
Dementia, Familial, Neumann Type 57
Familial Dementia, Neumann Type 58
Familial Dementia Neumann Type 72
Neuroaxonal Leukodystrophy 20
Fpsg 58

Characteristics:

Orphanet epidemiological data:

58
hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult; Age of death: adult;

OMIM®:

57 (Updated 20-May-2021)
Miscellaneous:
adult onset
rapidly progressive
variable presentation and evolution of symptoms
death within 6 years after onset

Inheritance:
autosomal dominant


HPO:

31
leukoencephalopathy, hereditary diffuse, with spheroids:
Inheritance autosomal dominant inheritance
Onset and clinical course adult onset rapidly progressive


Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0080523
OMIM® 57 221820
KEGG 36 H01807
ICD10 via Orphanet 33 E75.2
UMLS via Orphanet 71 C3711381
Orphanet 58 ORPHA313808
UMLS 70 C0017639 C3711381

Summaries for Leukoencephalopathy, Hereditary Diffuse, with Spheroids

MedlinePlus Genetics : 43 Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP) is a neurological condition characterized by changes to certain areas of the brain. A hallmark of ALSP is leukoencephalopathy, which is the alteration of a type of brain tissue called white matter. White matter consists of nerve fibers (axons) covered by a substance called myelin that insulates and protects them. The axons extend from nerve cells (neurons) and transmit nerve impulses throughout the body. Areas of damage to this brain tissue (white matter lesions) can be seen with magnetic resonance imaging (MRI). Another feature of ALSP is swellings called spheroids in the axons of the brain, which are a sign of axon damage. Also common in ALSP are abnormally pigmented glial cells. Glial cells are specialized brain cells that protect and maintain neurons. Damage to myelin and neurons is thought to contribute to many of the neurological signs and symptoms in people with ALSP.Symptoms of ALSP usually begin in a person's forties and worsen over time. Personality changes, including depression and a loss of social inhibitions, are among the earliest symptoms of ALSP. Affected individuals may develop memory loss and loss of executive function, which is the ability to plan and implement actions and develop problem-solving strategies. Loss of this function impairs skills such as impulse control, self-monitoring, and focusing attention appropriately. Some people with ALSP have mild seizures, usually only when the condition begins. As ALSP progresses, it causes a severe decline in thinking and reasoning abilities (dementia).Over time, motor skills are affected, and people with ALSP may have difficulty walking. Many develop a pattern of movement abnormalities known as parkinsonism, which includes unusually slow movement (bradykinesia), involuntary trembling (tremor), and muscle stiffness (rigidity). The pattern of cognitive and motor problems are variable, even among individuals in the same family, although almost all affected individuals ultimately become unable to walk, speak, and care for themselves.ALSP was previously thought to be two separate conditions, hereditary diffuse leukoencephalopathy with spheroids (HDLS) and familial pigmentary orthochromatic leukodystrophy (POLD), both of which cause very similar white matter damage and cognitive and movement problems. POLD was thought to be distinguished by the presence of pigmented glial cells and an absence of spheroids; however, people with HDLS can have pigmented cells, too, and people with POLD can have spheroids. HDLS and POLD are now considered to be part of the same disease spectrum, which researchers have recommended calling ALSP.

MalaCards based summary : Leukoencephalopathy, Hereditary Diffuse, with Spheroids, also known as hereditary diffuse leukoencephalopathy with spheroids, is related to creutzfeldt-jakob disease and supranuclear palsy, progressive, 1, and has symptoms including muscle weakness, polydipsia and hemiplegia. An important gene associated with Leukoencephalopathy, Hereditary Diffuse, with Spheroids is CSF1R (Colony Stimulating Factor 1 Receptor), and among its related pathways/superpathways are Pathways of neurodegeneration - multiple diseases and Neuroscience. The drugs Pitavastatin and Methyltestosterone have been mentioned in the context of this disorder. Affiliated tissues include brain, endothelial and spinal cord, and related phenotypes are spasticity and hyperreflexia

Disease Ontology : 12 A leukodystrophy that is characterized by progressive dementia, apraxia, apathy, impaired balance, parkinsonism, spasticity and epilepsy and has material basis in heterozygous mutation in the CSF1R gene on chromosome 5q32.

GARD : 20 Hereditary diffuse leukoencephalopathy with spheroids (HDLS) is a neurological condition characterized by changes to certain areas of the brain. A hallmark of HDLS is leukoencephalopathy, which is damage to a type of brain tissue called white matter. Another common finding is axon damage due to swellings called spheroids. Damage to myelin and axons is thought to contribute to many of the neurological signs and symptoms seen in people with this condition, including the personality changes, loss of memory, changes in motor skills and dementia. HDLS is caused by mutations in the CSF1R gene. It is inherited in an autosomal dominant pattern.

OMIM® : 57 Hereditary diffuse leukoencephalopathy with spheroids is an autosomal dominant adult-onset rapidly progressive neurodegenerative disorder characterized by variable behavioral, cognitive, and motor changes. Patients often die of dementia within 6 years of onset. Brain imaging shows patchy abnormalities in the cerebral white matter, predominantly affecting the frontal and parietal lobes (summary by Rademakers et al., 2012). (221820) (Updated 20-May-2021)

KEGG : 36 Hereditary diffuse leukoencephalopathy with spheroids (HDLS) is an autosomal dominant central nervous system disease with variable clinical presentations, including personality and behavioral changes, dementia, depression, parkinsonism, seizures and other phenotypes. HDLS is a rare progressive neurodegenerative disease with symptomatic onset in midlife and death within a few years after symptom onset. White matter lesions with accumulation of axonal spheroids are the pathological hallmark of HDLS. It has been reported that mutations in the colony-stimulating factor 1 receptor (CSF1R) gene cause this disease. CSF1R is a crucial mediator of microglial proliferation and differentiation in the brain.

UniProtKB/Swiss-Prot : 72 Leukoencephalopathy, diffuse hereditary, with spheroids: An autosomal dominant adult-onset rapidly progressive neurodegenerative disorder characterized by variable behavioral, cognitive, and motor changes. Patients often die of dementia within 6 years of onset. Brain imaging shows patchy abnormalities in the cerebral white matter, predominantly affecting the frontal and parietal lobes.

Wikipedia : 73 Hereditary diffuse leukoencephalopathy with spheroids (HDLS) is a rare adult onset autosomal dominant... more...

Related Diseases for Leukoencephalopathy, Hereditary Diffuse, with Spheroids

Diseases related to Leukoencephalopathy, Hereditary Diffuse, with Spheroids via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 428)
# Related Disease Score Top Affiliating Genes
1 creutzfeldt-jakob disease 31.5 SNCA S100B RPS27A PRNP MAPT GFAP
2 supranuclear palsy, progressive, 1 31.5 TREM2 SNCA RPS27A PRNP MAPT GFAP
3 amnestic disorder 31.2 S100B MAPT APP
4 pick disease of brain 31.1 TREM2 SNCA RPS27A PRNP MAPT MAP2
5 traumatic brain injury 31.0 S100B MBP GFAP
6 autosomal dominant cerebellar ataxia 31.0 SNCA RPS27A PRNP MAPT APP
7 brain injury 30.9 S100B MBP MAPT GFAP
8 ischemia 30.8 SLC1A2 MAP2 GFAP APP
9 temporal lobe epilepsy 30.7 SLC1A3 SLC1A2 PRNP GFAP
10 aphasia 30.7 SNCA PRNP MAPT APP
11 leukodystrophy 30.7 GFAP GALC CSF1R CRYAB AARS2
12 peripheral nervous system disease 30.6 SNCA S100B MBP MAPT GFAP APP
13 akinetic mutism 30.6 SNCA S100B PRNP MBP MAPT
14 status epilepticus 30.6 SLC1A2 SCN1A GFAP GALC
15 corticobasal degeneration 30.6 RPS27A MAPT
16 amyloidosis 30.5 SNCA PRNP MAPT APP
17 prion disease 30.5 SNCA PRNP MAPT MAP2 APP
18 primary progressive multiple sclerosis 30.5 S100B MBP CSF1R
19 motor neuron disease 30.4 SNCA SLC1A3 SLC1A2 RPS27A MAPT APP
20 focal epilepsy 30.4 SCN1A MAPT LOC102724058
21 hydrocephalus 30.4 S100B MBP MAPT GFAP APP
22 communicating hydrocephalus 30.3 SNCA MAPT APP
23 normal pressure hydrocephalus 30.3 MAPT GFAP APP
24 polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1 30.3 TYROBP TREM2 IL34 CSF1R APP
25 hemiplegia 30.3 SLC1A3 SCN1A S100B
26 neurilemmoma 30.3 S100B MBP GFAP
27 carotid artery occlusion 30.3 MBP MAP2 GFAP
28 demyelinating disease 30.2 MBP MAPT MAP2 GALC
29 periventricular leukomalacia 30.2 SLC1A2 MBP APP
30 scrapie 30.2 SNCA PRNP MAPT MAP2 GFAP APP
31 neuritis 30.2 SNCA MBP MAPT GFAP
32 vascular dementia 30.2 PRNP MBP MAPT APP
33 huntington disease 30.2 SNCA SLC1A3 SLC1A2 PRNP MAPT MAP2
34 binswanger's disease 30.1 MAPT GFAP APP
35 epilepsy 30.1 SLC1A2 SCN1A S100B MAPT MAP2 LOC102724058
36 neonatal hypoxic and ischemic brain injury 30.1 SLC1A3 MBP
37 agraphia 30.1 PRNP MAPT
38 wernicke encephalopathy 30.0 SLC1A3 SLC1A2 GFAP
39 cerebral amyloid angiopathy, cst3-related 30.0 SNCA PRNP MAPT APP
40 migraine with or without aura 1 30.0 SLC1A3 SLC1A2 SCN1A S100B
41 alexander disease 30.0 SLC1A3 SLC1A2 S100B GFAP CRYAB
42 fatal familial insomnia 29.9 SNCA PRNP MAPT GFAP APP
43 ganglioglioma 29.9 SLC1A2 S100B MAP2 GFAP
44 secondary progressive multiple sclerosis 29.9 SLC1A3 SLC1A2 S100B MBP
45 stroke, ischemic 29.9 SLC1A2 MBP MAPT MAP2
46 niemann-pick disease 29.8 SNCA MBP GALC
47 multiple system atrophy 1 29.8 SNCA RPS27A PRNP MBP MAPT MAP2
48 parkinson disease, late-onset 29.7 SNCA RPS27A PRNP MBP MAPT MAP2
49 cerebral degeneration 29.7 SNCA MBP GFAP GALC CSF1R APP
50 autism 29.7 SLC1A3 SLC1A2 SCN1A MBP MAPT LOC102724058

Graphical network of the top 20 diseases related to Leukoencephalopathy, Hereditary Diffuse, with Spheroids:



Diseases related to Leukoencephalopathy, Hereditary Diffuse, with Spheroids

Symptoms & Phenotypes for Leukoencephalopathy, Hereditary Diffuse, with Spheroids

Human phenotypes related to Leukoencephalopathy, Hereditary Diffuse, with Spheroids:

31 (show all 16)
# Description HPO Frequency HPO Source Accession
1 spasticity 31 HP:0001257
2 hyperreflexia 31 HP:0001347
3 depressivity 31 HP:0000716
4 memory impairment 31 HP:0002354
5 leukoencephalopathy 31 HP:0002352
6 rigidity 31 HP:0002063
7 abnormality of the cerebral white matter 31 HP:0002500
8 frontal lobe dementia 31 HP:0000727
9 mutism 31 HP:0002300
10 postural instability 31 HP:0002172
11 apraxia 31 HP:0002186
12 neuronal loss in central nervous system 31 HP:0002529
13 bradykinesia 31 HP:0002067
14 gliosis 31 HP:0002171
15 shuffling gait 31 HP:0002362
16 cns demyelination 31 HP:0007305

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neurologic Central Nervous System:
spasticity
hyperreflexia
rigidity
dementia
frontal lobe dementia
more
Neurologic Behavioral Psychiatric Manifestations:
depression
executive dysfunction
behavioral changes
flat affect

Clinical features from OMIM®:

221820 (Updated 20-May-2021)

UMLS symptoms related to Leukoencephalopathy, Hereditary Diffuse, with Spheroids:


muscle weakness; polydipsia; hemiplegia; bradykinesia; memory loss; muscle rigidity; muscle spasticity

MGI Mouse Phenotypes related to Leukoencephalopathy, Hereditary Diffuse, with Spheroids:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.38 AARS2 APP CRYAB CSF1R GALC GFAP
2 cellular MP:0005384 10.3 APP CRYAB CSF1R GALC GFAP IL34
3 growth/size/body region MP:0005378 10.25 AARS2 APP CSF1R GALC GFAP MAP2
4 homeostasis/metabolism MP:0005376 10.21 APP CRYAB CSF1R GALC GFAP MAPT
5 hematopoietic system MP:0005397 10.14 AARS2 APP CSF1R GALC IL34 MAPT
6 mortality/aging MP:0010768 10.1 AARS2 APP CSF1R GALC GFAP IL34
7 immune system MP:0005387 10.06 APP CSF1R GALC GFAP IL34 MAPT
8 nervous system MP:0003631 10.03 APP CSF1R GALC GFAP IL34 MAP2
9 no phenotypic analysis MP:0003012 9.56 APP CSF1R IL34 MAPT PRNP SLC1A3
10 normal MP:0002873 9.36 AARS2 APP CSF1R GFAP MAPT MBP

Drugs & Therapeutics for Leukoencephalopathy, Hereditary Diffuse, with Spheroids

Drugs for Leukoencephalopathy, Hereditary Diffuse, with Spheroids (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 231)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Pitavastatin Approved Phase 4 147511-69-1, 147526-32-7 6366718 5282452
2
Methyltestosterone Approved Phase 4 58-18-4 6010
3
Testosterone undecanoate Approved, Investigational Phase 4 5949-44-0
4
Testosterone enanthate Approved Phase 4 315-37-7 9416
5
Aspirin Approved, Vet_approved Phase 4 50-78-2 2244
6
Simvastatin Approved Phase 4 79902-63-9 54454
7
Tibolone Approved, Investigational Phase 4 5630-53-5
8
Furosemide Approved, Vet_approved Phase 4 54-31-9 3440
9
Insulin glargine Approved Phase 4 160337-95-1
10
Insulin glulisine Approved Phase 4 207748-29-6
11
Irbesartan Approved, Investigational Phase 4 138402-11-6 3749
12
Doxazosin Approved Phase 4 74191-85-8 3157
13
Angiotensin II Approved, Investigational Phase 4 68521-88-0, 4474-91-3, 11128-99-7 172198
14
Ramipril Approved Phase 4 87333-19-5 5362129
15
Hydrochlorothiazide Approved, Vet_approved Phase 4 58-93-5 3639
16
Amlodipine Approved Phase 4 88150-42-9 2162
17
Clonidine Approved Phase 4 4205-90-7 2803
18
Atenolol Approved Phase 4 29122-68-7 2249
19
Pioglitazone Approved, Investigational Phase 4 111025-46-8 4829
20
Rosiglitazone Approved, Investigational Phase 4 122320-73-4 77999
21
Atorvastatin Approved Phase 4 134523-00-5 60823
22
Nicotinamide Approved, Investigational Phase 4 98-92-0 936
23
Ezetimibe Approved Phase 4 163222-33-1 150311
24
Fenofibrate Approved Phase 4 49562-28-9 3339
25 Fenofibric acid Approved Phase 4 42017-89-0
26
Folic acid Approved, Nutraceutical, Vet_approved Phase 4 59-30-3 6037
27
Niacin Approved, Investigational, Nutraceutical Phase 4 59-67-6 938
28 HIV Protease Inhibitors Phase 4
29
protease inhibitors Phase 4
30 Pharmaceutical Solutions Phase 4
31 Hormone Antagonists Phase 4
32 Anabolic Agents Phase 4
33 Antineoplastic Agents, Hormonal Phase 4
34 Testosterone 17 beta-cypionate Phase 4
35 Estrogens Phase 4
36 Antirheumatic Agents Phase 4
37 Anti-Inflammatory Agents, Non-Steroidal Phase 4
38 Anti-Inflammatory Agents Phase 4
39 Cyclooxygenase Inhibitors Phase 4
40 Antipyretics Phase 4
41 Platelet Aggregation Inhibitors Phase 4
42 Analgesics Phase 4
43 Analgesics, Non-Narcotic Phase 4
44 Adrenergic alpha-Agonists Phase 4
45 Adrenergic Agonists Phase 4
46 Adrenergic Agents Phase 4
47 Estrogen Receptor Modulators Phase 4
48 Antihypertensive Agents Phase 4
49 Antioxidants Phase 4
50 Clofibric Acid Phase 4 882-09-7

Interventional clinical trials:

(show top 50) (show all 205)
# Name Status NCT ID Phase Drugs
1 Effects of High Dose Simvastatin vs. Atorvastatin on Baseline Lipoprotein Profiles, Apo-A-1 and C Reactive Protein Unknown status NCT00736463 Phase 4 Simvastatin;Atorvastatin 80 mg
2 The Low HDL On Six Weeks Statin Therapy (LOW) Study Unknown status NCT00238004 Phase 4 Nicotinic acid
3 Comparison of Pitavastatin With Atorvastatin in Increasing HDL-C and Adiponectin in Patients With Dyslipidemia and Coronary Artery Disease. Completed NCT00861861 Phase 4 Pitavastatin;Atorvastatin
4 Phase 4 Study That Compares the High Density Lipoprotein Cholesterol (HDL) Cholesterol Subgroups of the Patients With Congenital Hypogonadotrophic Hypogonadism With That of the Healthy Control Subjects, and Investigates the Effect of Testosterone Treatment on HDL Subgroups. Completed NCT01454011 Phase 4 Testosteron 250mg injection;Testosterone 50mg transdermal application
5 Effects of Tibolone and PPARα-agonist on HDL Metabolism in Postmenopausal Women Completed NCT00809068 Phase 4 fenofibrate and tibolone;tibolone
6 Comparison of Fenofibrate and Niacin in Patients With Hypertriglyceridemia and Low High-Density Lipoprotein (HDL)-Cholesterol Completed NCT01122355 Phase 4 lipid modification
7 Combined Diabetes-Renal Multifactorial Intervention In Patients With Advanced Diabetic Nephropathy (ADN) Completed NCT00708981 Phase 4
8 Nephropathy in Type 2 Diabetes: Effects of an Intensive Multifactorial Intervention Trial on Cardio-renal Events. Completed NCT00535925 Phase 4 SoC therapy;irbesartan;ramipril;hydrochlorothiazide;furosemide;amlodipine;atenolol;doxazosin;clonidine;insulin;simvastatin;fibrate;erythropoietin;aspirin
9 Benefit of Elevation of HDL-C on Cardiovascular Outcomes in Women Completed NCT00590629 Phase 4 Niaspan
10 The Effect of Fenofibrate on Endothelial Function and HDL in Patients With Coronary Heart Disease and LDL-C at Goal Completed NCT00552747 Phase 4 fenofibrate;placebo
11 Benefit of Elevation of HDL-cholesterol/Triglyceride Lowering on Cardiovascular Outcomes in Women Completed NCT01921010 Phase 4 Niaspan;Placebo
12 A Randomized, Open-Label, Parallel Group Study to Evaluate the Efficacy and Safety of Alirocumab Versus Usual Care in Patients With Type 2 Diabetes and Mixed Dyslipidemia at High Cardiovascular Risk With Non-HDL-C Not Adequately Controlled With Maximally Tolerated Statin Therapy Completed NCT02642159 Phase 4 Alirocumab;Statins;Ezetimibe;Fenofibrate;Nicotinic acid;Omega-3 fatty acids;Antihyperglycemic Drug
13 Effect of Tredaptive on Serum Lipoproteins, Lipoproteins Metabolism, Oxidative Stress and HDL Antioxidant Function Completed NCT01054508 Phase 4 nicotinic acid/laropiprant
14 Effects of Rosuvastatin on the, in Vivo, Kinetic of VLDL apoB, IDL apoB, LDL apoB and HDL apoA1, Using Stable Isotopes, in Type 2 Diabetic Patients Completed NCT00658463 Phase 4 Rosuvastatin;Placebo
15 Does Raising HDL-C With Niacin Improve Endothelial Function in Early CKD? Completed NCT00852969 Phase 4 Niacin;Active Placebo
16 Influence of Glitazones on the Vasodilatory Effect of HDL Lipoproteins and on Phospholipase A2 Completed NCT00953498 Phase 4 pioglitazone;rosiglitazone
17 The Effects of Dapagliflozin on HDL Particles Subtypes and Reverse Cholesterol Transport in Type 2 Diabetic Patients. A 12 Weeks Randomized Placebo-controlled Phase IV Study Completed NCT02327039 Phase 4 Dapagliflozin;Placebo
18 Qualitative and Quantitative Characterization of HDL in T2D After Fenofibrate or Niacin Treatment in Spanish Population Completed NCT02153879 Phase 4 Fenofibrate;Niacin plus laropiprant
19 Atorvastatin Action on Oxidative Stress and Inflammation in Type II Diabetes: The HDL Particle Protection Study Completed NCT02125682 Phase 4 atovastatin 10 mg/day;Atorvastatin 80 mg/day
20 Effects of Atorvastatin on Disease Activity and HDL Cholesterol Anti-inflammatory Properties in Patients With Rheumatoid Arthritis Completed NCT00356473 Phase 4 Atorvastatin
21 Exercise Versus Extended-Release Niacin in Patients With Coronary Heart Disease and Low High-Density Lipoproteins (HDL) Cholesterol: Effect on Lipid Profile and Endothelial Function Completed NCT00298909 Phase 4 niaspan (extended-release niacin);niacin
22 A 16-week Multicenter, 2-period Study to Investigate the Effect of the Combination of Fluvastatin ER 80mg and Fenofibrate 200mg on HDL-C in Comparison to the Combination of Simvastatin 20mg and Ezetimibe 10mg in Patients With Metabolic Syndrome Completed NCT00385658 Phase 4 Fluvastatin extended release, fenofibrate;Fixed combination simvastatin/ezetimibe
23 Omega-3 Supplementation to Increase HDL-c Levels in Those With Tetraplegia Completed NCT01896037 Phase 4
24 Efecto Del ácido nicotínico Sobre la composición de Las lipoproteínas de Alta Densidad (HDL) y la función Del Endotelio Arterial en Los Pacientes Con cardiopatía isquémica Prematura y Concentraciones Elevadas de Colesterol-HDL Terminated NCT01450410 Phase 4 Nicotinic acid;Placebo
25 Lipid Efficacy and Effects on HDL-C Metabolism of the Extended Release Niacin/Laropiprant Combination Added to Usual Therapy in Patients With Cardiovascular Disease and Low HDL-C That Did Not Achieve the Optional Very Low LDL-C Goal Terminated NCT01308203 Phase 4 Extended release niacin/laropiprant;placebo
26 Impact of Atorvastatin on the Distribution, Composition, and Metabolism of LDL and HDL Subfractions: A Double-blind Placebo-controlled Phase IV Study With Patients Suffering From Combined Hyperlipidemia and Diabetes. Atorvastatin and LDL Profile in NIDDM (ALPIN Study) Terminated NCT00640549 Phase 4 Atorvastatin;Placebo
27 Mechanisms of Atheroprotection by Fenofibric Acid (ABT 335) Added to a Statin in Subjects With Insulin Resistance (Hypertriglyceridemia and Low HDL-C) Terminated NCT01025492 Phase 4 Trilipix;placebo
28 ARBITER 6: ARterial Biology for the Investigation of the Treatment Effects of Reducing Cholesterol 6 - HDL and LDL Treatment Strategies in Atherosclerosis (HALTS) Terminated NCT00397657 Phase 4 extended release niacin;ezetimibe
29 Effects of Lovaza Monotherapy vs. Placebo on Composition and Function of HDL and Other Lipoproteins, and on Other Lipid-Related Parameters Withdrawn NCT01180764 Phase 4 Lovaza (Omega-3 acid ethyl esters);Placebo
30 The Effect of Niacin Administration on Oxidative Stress in Patients With Hypercholesterolmia, as Measured by the Use of a Novel Biomarker Unknown status NCT01071525 Phase 3 Niacin\Laropiprant
31 Trial of Laflavon in Patients With Metabolic Syndrome to Evaluate Its Effectiveness in Lowering Triglycerides and Raising High-Density Lipoprotein (HDL) Unknown status NCT01286909 Phase 3
32 A Multicenter, Randomized, Double-Blind, Placebo-Controlled, Balanced, Three-Way Crossover Study to Evaluate the Efficacy of Simvastatin Therapy in Elevating HDL-C Levels in Patients With Type 2 Diabetic Dyslipidemia and Low HDL-C Completed NCT00389896 Phase 3 MK0733 / Duration of Treatment: 18 Weeks;Comparator: placebo (unspecified) / Duration of Treatment: 18 Weeks
33 CSP #363 - The VA HDL Intervention Trial (HIT): Secondary Prevention of Coronary Heart Disease in Men With Low HDL-Cholesterol and Desirable LDL-Cholesterol Completed NCT00283335 Phase 3 gemfibrozil
34 The Effect of the Alga Dunaliella Bardawil as a Source of 9-cis Retinoic Acid Completed NCT00156169 Phase 3 Dunaliella
35 Effects of a High-dose Concentrate of n-3 Fatty Acids or Corn Oil Introduced Early After an Acute Myocardial Infarction on Serum Triacylglycerol and High-density Lipoprotein (HDL)- Cholesterol Completed NCT01422317 Phase 3 EPA / DHA / Alpha-Tocopherol;Corn Oil / Alpha-Tocopherol (4 mg)
36 Effects of Pioglitazone on Reverse Cholesterol Transport and HDL Function in Persons With Diabetes Completed NCT01156597 Phase 3 pioglitazone
37 A 24-Week, Worldwide, Multicenter, Double-Blind, Randomized, Parallel, Placebo-Controlled Study to Assess the Efficacy and Tolerability of Anacetrapib When Added to Ongoing Statin Therapy With or Without Other Lipid Modifying Medication(s) in Patients With Hypercholesterolemia or Low HDL-C Completed NCT01717300 Phase 3 Anacetrapib 100 mg;Placebo for anacetrapib 100 mg;Anacetrapib 25 mg;Placebo for anacetrapib 25 mg
38 Evaluating the Effect of Vitamin E Treatment on HDL Function of Type 2 Diabetic Patients and the Correlation to Hp Phenotype. A Prospective, Double Blind, Randomized, Placebo Controlled Trial (IDEAL2 Study) Completed NCT01113671 Phase 2, Phase 3 Vitamin E (d-alpha-tocopheryl acetate);Placebo
39 A Randomized Trial of the Long-term Clinical Effects of Raising HDL Cholesterol With Extended Release Niacin/Laropiprant Completed NCT00461630 Phase 3 ER niacin/laropiprant;simvastatin;ezetimibe/simvastatin
40 HDL-Atherosclerosis Treatment Study (HATS) Completed NCT00000553 Phase 3 simvastatin;niacin;antioxidants
41 A Randomised, Double-blind, Placebo-controlled, Crossover Pilot Study to Define the High Density Lipoprotein Cholesterol (HDL-C)-Raising Mechanism of Rosuvastatin (CRESTOR™) by Quantifying the Key Steps of Reverse Cholesterol Transport (RCT) Completed NCT00240266 Phase 3 Rosuvastatin
42 Estrogen, HDL, and Coronary Heart Disease in Women Completed NCT00083824 Phase 2, Phase 3 Estrogens, Conjugated (USP);Medroxyprogesterone 17-Acetate;Placebo
43 A 24-Week, Worldwide, Multicenter, Double-Blind, Randomized, Parallel, Placebo- Controlled Study to Assess the Efficacy and Tolerability of Anacetrapib When Added to Ongoing Statin Therapy With or Without Other Lipid Modifying Medication(s) in Patients With Hypercholesterolemia or Low HDL-C Completed NCT01860729 Phase 3 Anacetrapib;Placebo
44 HDL Modulation and Endothelial Function Completed NCT00150722 Phase 3 atorvastatin (or other tolerated statin + Niaspan/placebo)
45 HDL Increased Plaque Stabilization in the Elderly Completed NCT00127218 Phase 3 any statin;niacin;Placebo
46 A 16-Week, Randomized, Controlled Trial of the Effect of Aripiprazole Versus Standard of Care on Non-HDL Cholesterol Among Patients With Schizophrenia and Bipolar I Disorder Who Have Pre-existing Metabolic Syndrome Terminated NCT00857818 Phase 3 Aripiprazole;Oanzapine, risperidone, or quetiapine
47 Pilot Study of the Effect of Low-Dose Rosuvastatin on Endothelial Function, Oxidative Stress and Inflammatory Parameters in HIV-Infected Individuals With Low HDL Cholesterol Levels and Low to Normal LDL Cholesterol Levels Terminated NCT00986999 Phase 2, Phase 3 rosuvastatin
48 A 24-Week Randomised, Double-Blind, Parallel-Group, Multi-Centre, Active-Controlled (Metformin or Metformin Combined With Fenofibrate) Study to Evaluate the Lipid Metabolic Effects, Safety and Tolerability of Tesaglitazar Therapy in Patients With Type 2 Diabetes and Low HDL-Cholesterol on a Fixed Background Therapy With a Statin Terminated NCT00261352 Phase 3 Tesaglitazar;Metformin;Fenofibrate
49 The Effect of DLBS1449 in Diabetic Patients With Low HDL-Cholesterol - Double Blind Comparative Study With Placebo Withdrawn NCT01972477 Phase 2, Phase 3 DLBS1449
50 A Randomized Controlled Clinical Trial on the Efficacy and Safety of Fenofibrate Combined With Ursodeoxycholic Acid in PBC Patients With an Incomplete Biochemical Response to UDCA Unknown status NCT02965911 Phase 1, Phase 2 Fenofibrate;UDCA

Search NIH Clinical Center for Leukoencephalopathy, Hereditary Diffuse, with Spheroids

Cochrane evidence based reviews: gliosis

Genetic Tests for Leukoencephalopathy, Hereditary Diffuse, with Spheroids

Genetic tests related to Leukoencephalopathy, Hereditary Diffuse, with Spheroids:

# Genetic test Affiliating Genes
1 Hereditary Diffuse Leukoencephalopathy with Spheroids 29 CSF1R

Anatomical Context for Leukoencephalopathy, Hereditary Diffuse, with Spheroids

MalaCards organs/tissues related to Leukoencephalopathy, Hereditary Diffuse, with Spheroids:

40
Brain, Endothelial, Spinal Cord, Retina, Heart, Temporal Lobe, Eye

Publications for Leukoencephalopathy, Hereditary Diffuse, with Spheroids

Articles related to Leukoencephalopathy, Hereditary Diffuse, with Spheroids:

(show top 50) (show all 289)
# Title Authors PMID Year
1
Haploinsufficiency of CSF-1R and clinicopathologic characterization in patients with HDLS. 61 6 57
24336230 2014
2
Mutations in the colony stimulating factor 1 receptor (CSF1R) gene cause hereditary diffuse leukoencephalopathy with spheroids. 61 6 57
22197934 2011
3
Hereditary diffuse leukoencephalopathy with spheroids: clinical, pathologic and genetic studies of a new kindred. 61 57 6
16523341 2006
4
CSF1R mutations link POLD and HDLS as a single disease entity. 57 6
23408870 2013
5
Autosomal dominant subcortical gliosis presenting as frontotemporal dementia. 6 57
19153373 2009
6
Progressive familial leukodystrophy of late onset. 6 57
8614507 1996
7
Clinical features and genetic characteristics of hereditary diffuse leukoencephalopathy with spheroids due to CSF1R mutation: a case report and literature review. 61 6
32055602 2020
8
Hereditary diffuse leukoencephalopathy with spheroids with phenotype of primary progressive multiple sclerosis. 61 6
25311247 2015
9
Increasing and persistent DWI changes in a patient with hereditary diffuse leukoencephalopathy with spheroids. 6 61
24094860 2013
10
Genetic analysis of inherited leukodystrophies: genotype-phenotype correlations in the CSF1R gene. 61 6
23649896 2013
11
Early involvement of the corpus callosum in a patient with hereditary diffuse leukoencephalopathy with spheroids carrying the de novo K793T mutation of CSF1R. 6 61
23411710 2013
12
MRI characteristics and scoring in HDLS due to CSF1R gene mutations. 61 57
22843259 2012
13
Autosomal dominant diffuse leukoencephalopathy with neuroaxonal spheroids. 61 57
10668715 2000
14
Molecular diagnostic experience of whole-exome sequencing in adult patients. 6
26633545 2016
15
Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia linked CSF1R mutation: Report of four Korean cases. 6
25563800 2015
16
A novel mutation in the CSF1R gene causes a variable leukoencephalopathy with spheroids. 6
25012610 2014
17
Hereditary diffuse leukoencephalopathy with axonal spheroids: three patients with stroke-like presentation carrying new mutations in the CSF1R gene. 6
24532199 2014
18
De novo mutations in hereditary diffuse leukoencephalopathy with axonal spheroids (HDLS). 6
24198292 2013
19
A new CSF1R mutation presenting with an extensive white matter lesion mimicking primary progressive multiple sclerosis. 6
24034409 2013
20
A novel A781V mutation in the CSF1R gene causes hereditary diffuse leucoencephalopathy with axonal spheroids. 6
23816250 2013
21
Hereditary diffuse leukoencephalopathy with axonal spheroids caused by R782H mutation in CSF1R: case report. 6
22503135 2012
22
Tau gene mutation in familial progressive subcortical gliosis. 57
10202939 1999
23
Familial progressive subcortical gliosis. 57
7936288 1994
24
Involvement of tryptase-related cellular protease(s) in human immunodeficiency virus type 1 infection. 6
2470618 1989
25
[Familial dementia of the Neumann type (subcortical gliosis)]. 57
2868516 1985
26
Progressive subcortical gliosis, a rare form of presenile dementia. 57
5339109 1967
27
Pick's disease. 57
18153924 1949
28
Further expanding the mutational spectrum of brain abnormalities, neurodegeneration, and dysosteosclerosis: A rare disorder with neurologic regression and skeletal features. 61
33749994 2021
29
Bone Disease Associated With Hereditary Diffuse Leukoencephalopathy With Spheroids. 61
32911262 2020
30
Machine Learning and Multiparametric Brain MRI to Differentiate Hereditary Diffuse Leukodystrophy with Spheroids from Multiple Sclerosis. 61
32453488 2020
31
[A case of hereditary diffuse leukoencephalopathy with spheroids and pigmented glia presenting with long-term mild psychiatric symptoms]. 61
32435043 2020
32
Deep White Matter Lesions with Persistent Diffusion Restriction on MRI as a Diagnostic Clue: Neuroimaging of a Turkish Family with Hereditary Diffuse Leukoencephalopathy with Spheroids and Literature Review. 61
32606513 2020
33
Loss of homeostatic microglial phenotype in CSF1R-related Leukoencephalopathy. 61
32430064 2020
34
A proposed synergistic effect of CSF1R and NMUR2 variants contributes to binge eating in hereditary diffuse leukoencephalopathy with spheroids. 61
32055598 2020
35
An AARS variant as the likely cause of Swedish type hereditary diffuse leukoencephalopathy with spheroids. 61
31775912 2019
36
Genetic Factors of Cerebral Small Vessel Disease and Their Potential Clinical Outcome. 61
31484286 2019
37
Bi-allelic CSF1R Mutations Cause Skeletal Dysplasia of Dysosteosclerosis-Pyle Disease Spectrum and Degenerative Encephalopathy with Brain Malformation. 61
30982609 2019
38
Functional characterization of a novel CSF1R mutation causing hereditary diffuse leukoencephalopathy with spheroids. 61
30729751 2019
39
CSF1R mutation presenting as dementia with Lewy bodies. 61
30968732 2019
40
Mirror movements and blepharoclonus as novel phenomena in hereditary diffuse leukoencephalopathy with spheroids. 61
29983329 2019
41
Clinicopathologic characterization and abnormal autophagy of CSF1R-related leukoencephalopathy. 61
31827782 2019
42
CSF1R-related leukoencephalopathy: A major player in primary microgliopathies. 61
30429277 2018
43
AARS2 Compound Heterozygous Variants in a Case of Adult-Onset Leukoencephalopathy With Axonal Spheroids and Pigmented Glia. 61
30272204 2018
44
Mendelian adult-onset leukodystrophy genes in Alzheimer's disease: critical influence of CSF1R and NOTCH3. 61
29544907 2018
45
Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP): Integrating the literature on hereditary diffuse leukoencephalopathy with spheroids (HDLS) and pigmentary orthochromatic leukodystrophy (POLD). 61
29122458 2018
46
MR Spectroscopy in Patients with Hereditary Diffuse Leukoencephalopathy with Spheroids and Asymptomatic Carriers of Colony-stimulating Factor 1 Receptor Mutation. 61
28025469 2017
47
Sporadic Cases with Novel Mutations and Pedigree in Hereditary Leukoencephalopathy with Axonal Spheroids. 61
28059798 2017
48
Suspected Perinatal Depression Revealed to be Hereditary Diffuse Leukoencephalopathy with Spheroids. 61
28122429 2017
49
[Hereditary Diffuse Leukoencephalopathy with Spheroids (HDLS): Clinical Characteristics and Pathomechanistic Insights]. 61
28126974 2017
50
Characteristic microglial features in patients with hereditary diffuse leukoencephalopathy with spheroids. 61
27490250 2016

Variations for Leukoencephalopathy, Hereditary Diffuse, with Spheroids

ClinVar genetic disease variations for Leukoencephalopathy, Hereditary Diffuse, with Spheroids:

6 (show top 50) (show all 188)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CSF1R NM_005211.3(CSF1R):c.2624T>C (p.Met875Thr) SNV Pathogenic 29810 rs281860279 GRCh37: 5:149434830-149434830
GRCh38: 5:150055267-150055267
2 CSF1R NM_005211.3(CSF1R):c.1897G>A (p.Glu633Lys) SNV Pathogenic 29811 rs281860269 GRCh37: 5:149440497-149440497
GRCh38: 5:150060934-150060934
3 CSF1R NM_005211.3(CSF1R):c.1754-2A>G SNV Pathogenic 29812 rs281860267 GRCh37: 5:149441160-149441160
GRCh38: 5:150061597-150061597
4 CSF1R NM_005211.3(CSF1R):c.2509G>T (p.Asp837Tyr) SNV Pathogenic 29814 rs387906662 GRCh37: 5:149435634-149435634
GRCh38: 5:150056071-150056071
5 CSF1R NM_005211.3(CSF1R):c.1766G>A (p.Gly589Glu) SNV Pathogenic 38373 rs281860268 GRCh37: 5:149441146-149441146
GRCh38: 5:150061583-150061583
6 CSF1R NM_005211.3(CSF1R):c.2297T>C (p.Met766Thr) SNV Pathogenic 38374 rs281860270 GRCh37: 5:149436872-149436872
GRCh38: 5:150057309-150057309
7 CSF1R NM_005211.3(CSF1R):c.2308G>C (p.Ala770Pro) SNV Pathogenic 38375 rs281860271 GRCh37: 5:149436861-149436861
GRCh38: 5:150057298-150057298
8 CSF1R NM_005211.3(CSF1R):c.2320-2A>G SNV Pathogenic 38376 rs281860272 GRCh37: 5:149435906-149435906
GRCh38: 5:150056343-150056343
9 CSF1R NM_005211.3(CSF1R):c.2324T>A (p.Ile775Asn) SNV Pathogenic 38377 rs281860273 GRCh37: 5:149435900-149435900
GRCh38: 5:150056337-150056337
10 CSF1R NM_005211.3(CSF1R):c.2442+5G>C SNV Pathogenic 38379 rs281860275 GRCh37: 5:149435777-149435777
GRCh38: 5:150056214-150056214
11 CSF1R NM_005211.3(CSF1R):c.2546T>C (p.Phe849Ser) SNV Pathogenic 38380 rs281860277 GRCh37: 5:149435597-149435597
GRCh38: 5:150056034-150056034
12 CSF1R NM_001288705.2(CSF1R):c.2543_2545TCT[1] (p.Phe849del) Microsatellite Pathogenic 38381 rs281860276 GRCh37: 5:149435595-149435597
GRCh38: 5:150056032-150056034
13 CSF1R NM_005211.3(CSF1R):c.2603T>C (p.Leu868Pro) SNV Pathogenic 38382 rs281860278 GRCh37: 5:149434851-149434851
GRCh38: 5:150055288-150055288
14 CSF1R NM_005211.3(CSF1R):c.2632C>A (p.Pro878Thr) SNV Pathogenic 38383 rs281860280 GRCh37: 5:149434822-149434822
GRCh38: 5:150055259-150055259
15 CSF1R NM_005211.3(CSF1R):c.1958G>A (p.Cys653Tyr) SNV Pathogenic 65684 rs397515555 GRCh37: 5:149440436-149440436
GRCh38: 5:150060873-150060873
16 CSF1R NM_005211.3(CSF1R):c.2483T>C (p.Phe828Ser) SNV Pathogenic 65686 rs397515557 GRCh37: 5:149435660-149435660
GRCh38: 5:150056097-150056097
17 CSF1R NM_005211.3(CSF1R):c.2060dup (p.Ser688fs) Duplication Pathogenic 120322 rs587777245 GRCh37: 5:149439334-149439335
GRCh38: 5:150059771-150059772
18 CSF1R NM_005211.3(CSF1R):c.2442+1G>T SNV Pathogenic 120323 rs587777246 GRCh37: 5:149435781-149435781
GRCh38: 5:150056218-150056218
19 CSF1R NM_005211.3(CSF1R):c.1699del (p.Thr567fs) Deletion Pathogenic 162109 rs690016546 GRCh37: 5:149441340-149441340
GRCh38: 5:150061777-150061777
20 CSF1R NM_005211.3(CSF1R):c.2655-2A>G SNV Pathogenic 162117 rs690016554 GRCh37: 5:149433995-149433995
GRCh38: 5:150054432-150054432
21 CSF1R NM_001288705.2(CSF1R):c.2527_2530delinsGGCA (p.Ile843_Leu844delinsGlyIle) Indel Pathogenic 549854 rs1561904557 GRCh37: 5:149435613-149435616
GRCh38: 5:150056050-150056053
22 CSF1R NM_005211.3(CSF1R):c.2381T>C (p.Ile794Thr) SNV Pathogenic 29813 rs281860274 GRCh37: 5:149435843-149435843
GRCh38: 5:150056280-150056280
23 CSF1R NM_001288705.3(CSF1R):c.1969+1G>A SNV Pathogenic 978469 GRCh37: 5:149440424-149440424
GRCh38: 5:150060861-150060861
24 CSF1R NM_005211.3(CSF1R):c.2329C>T (p.Arg777Trp) SNV Pathogenic 65685 rs397515556 GRCh37: 5:149435895-149435895
GRCh38: 5:150056332-150056332
25 CSF1R NM_005211.3(CSF1R):c.2342C>A (p.Ala781Glu) SNV Pathogenic 120324 rs587777247 GRCh37: 5:149435882-149435882
GRCh38: 5:150056319-150056319
26 CSF1R NM_005211.3(CSF1R):c.1889T>G (p.Leu630Arg) SNV Pathogenic 162110 rs690016547 GRCh37: 5:149440505-149440505
GRCh38: 5:150060942-150060942
27 CSF1R NM_005211.3(CSF1R):c.2330G>A (p.Arg777Gln) SNV Pathogenic 162111 rs690016548 GRCh37: 5:149435894-149435894
GRCh38: 5:150056331-150056331
28 CSF1R NM_005211.3(CSF1R):c.2450T>C (p.Leu817Pro) SNV Pathogenic 162112 rs690016549 GRCh37: 5:149435693-149435693
GRCh38: 5:150056130-150056130
29 CSF1R NM_005211.3(CSF1R):c.2480T>C (p.Ile827Thr) SNV Pathogenic 162113 rs690016550 GRCh37: 5:149435663-149435663
GRCh38: 5:150056100-150056100
30 CSF1R NM_005211.3(CSF1R):c.2512G>C (p.Val838Leu) SNV Pathogenic 162121 rs690016557 GRCh37: 5:149435631-149435631
GRCh38: 5:150056068-150056068
31 CSF1R NM_005211.3(CSF1R):c.2527A>T (p.Ile843Phe) SNV Pathogenic 162122 rs690016558 GRCh37: 5:149435616-149435616
GRCh38: 5:150056053-150056053
32 CSF1R NM_005211.3(CSF1R):c.1957T>C (p.Cys653Arg) SNV Pathogenic 162123 rs690016559 GRCh37: 5:149440437-149440437
GRCh38: 5:150060874-150060874
33 CSF1R NM_005211.3(CSF1R):c.2717T>C (p.Ile906Thr) SNV Pathogenic 162124 rs690016560 GRCh37: 5:149433931-149433931
GRCh38: 5:150054368-150054368
34 CSF1R NM_005211.3(CSF1R):c.2378A>C (p.Lys793Thr) SNV Pathogenic 162125 rs690016561 GRCh37: 5:149435846-149435846
GRCh38: 5:150056283-150056283
35 CSF1R NM_005211.3(CSF1R):c.2467C>T SNV Pathogenic 162126 rs690016562 GRCh37: 5:149435675-149435675
GRCh38: 5:150056112-150056112
36 CSF1R NM_005211.3(CSF1R):c.1745T>C (p.Leu582Pro) SNV Pathogenic 162127 rs690016563 GRCh37: 5:149441294-149441294
GRCh38: 5:150061731-150061731
37 CSF1R NM_005211.3(CSF1R):c.2350G>A (p.Val784Met) SNV Pathogenic 162128 rs690016564 GRCh37: 5:149435874-149435874
GRCh38: 5:150056311-150056311
38 CSF1R NM_005211.3(CSF1R):c.2562T>A (p.Asn854Lys) SNV Pathogenic 162129 rs690016565 GRCh37: 5:149434892-149434892
GRCh38: 5:150055329-150055329
39 CSF1R NM_005211.3(CSF1R):c.2294G>A (p.Gly765Asp) SNV Pathogenic 162130 rs690016566 GRCh37: 5:149436875-149436875
GRCh38: 5:150057312-150057312
40 CSF1R NM_005211.3(CSF1R):c.2566T>C (p.Tyr856His) SNV Pathogenic 162115 rs690016552 GRCh37: 5:149434888-149434888
GRCh38: 5:150055325-150055325
41 CSF1R NM_005211.3(CSF1R):c.2701C>T (p.Pro901Ser) SNV Pathogenic 162116 rs690016553 GRCh37: 5:149433947-149433947
GRCh38: 5:150054384-150054384
42 CSF1R NM_005211.3(CSF1R):c.2342C>T (p.Ala781Val) SNV Pathogenic 162118 rs587777247 GRCh37: 5:149435882-149435882
GRCh38: 5:150056319-150056319
43 CSF1R NM_005211.3(CSF1R):c.2528T>A (p.Ile843Asn) SNV Pathogenic 162119 rs690016555 GRCh37: 5:149435615-149435615
GRCh38: 5:150056052-150056052
44 SCN1A , LOC102724058 NM_001165963.4(SCN1A):c.3327dup (p.Ser1110fs) Duplication Pathogenic 599005 rs1559193213 GRCh37: 2:166892659-166892660
GRCh38: 2:166036149-166036150
45 CSF1R NM_005211.3(CSF1R):c.2629C>T (p.Gln877Ter) SNV Likely pathogenic 162120 rs690016556 GRCh37: 5:149434825-149434825
GRCh38: 5:150055262-150055262
46 CSF1R NM_005211.3(CSF1R):c.2541G>C (p.Glu847Asp) SNV Likely pathogenic 162114 rs690016551 GRCh37: 5:149435602-149435602
GRCh38: 5:150056039-150056039
47 CSF1R NM_001288705.3(CSF1R):c.2503C>T (p.Gln835Ter) SNV Likely pathogenic 1029947 GRCh37: 5:149435640-149435640
GRCh38: 5:150056077-150056077
48 CSF1R NM_001288705.3(CSF1R):c.1772G>A (p.Gly591Glu) SNV Likely pathogenic 982040 GRCh37: 5:149441140-149441140
GRCh38: 5:150061577-150061577
49 CSF1R NM_005211.3(CSF1R):c.2345G>A (p.Arg782His) SNV Likely pathogenic 38378 rs281860281 GRCh37: 5:149435879-149435879
GRCh38: 5:150056316-150056316
50 CSF1R NM_005211.3(CSF1R):c.449G>A (p.Arg150His) SNV Uncertain significance 493419 rs1029057991 GRCh37: 5:149459758-149459758
GRCh38: 5:150080195-150080195

UniProtKB/Swiss-Prot genetic disease variations for Leukoencephalopathy, Hereditary Diffuse, with Spheroids:

72 (show all 18)
# Symbol AA change Variation ID SNP ID
1 CSF1R p.Gly589Glu VAR_067397 rs281860268
2 CSF1R p.Glu633Lys VAR_067398 rs281860269
3 CSF1R p.Met766Thr VAR_067401 rs281860270
4 CSF1R p.Ala770Pro VAR_067402 rs281860271
5 CSF1R p.Ile775Asn VAR_067404 rs281860273
6 CSF1R p.Ile794Thr VAR_067405 rs281860274
7 CSF1R p.Asp837Tyr VAR_067406 rs387906662
8 CSF1R p.Phe849Ser VAR_067407 rs281860277
9 CSF1R p.Leu868Pro VAR_067409 rs281860278
10 CSF1R p.Met875Thr VAR_067410 rs281860279
11 CSF1R p.Pro878Thr VAR_067411 rs281860280
12 CSF1R p.Cys653Arg VAR_072081 rs690016559
13 CSF1R p.Ile843Phe VAR_072082 rs690016558
14 CSF1R p.Ile906Thr VAR_072083 rs690016560
15 CSF1R p.Gly765Asp VAR_083144 rs690016566
16 CSF1R p.Ala781Glu VAR_083145 rs587777247
17 CSF1R p.Arg782His VAR_083146 rs281860281
18 CSF1R p.Pro824Ser VAR_083147

Expression for Leukoencephalopathy, Hereditary Diffuse, with Spheroids

Search GEO for disease gene expression data for Leukoencephalopathy, Hereditary Diffuse, with Spheroids.

Pathways for Leukoencephalopathy, Hereditary Diffuse, with Spheroids

GO Terms for Leukoencephalopathy, Hereditary Diffuse, with Spheroids

Cellular components related to Leukoencephalopathy, Hereditary Diffuse, with Spheroids according to GeneCards Suite gene sharing:

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 plasma membrane GO:0005886 10.22 TYROBP TREM2 SNCA SLC1A3 SLC1A2 SCN1A
2 axon GO:0030424 9.8 SNCA SLC1A2 SCN1A MAPT CRYAB APP
3 membrane raft GO:0045121 9.73 SLC1A2 PRNP MAPT APP
4 neuronal cell body GO:0043025 9.73 SNCA SLC1A3 SCN1A MBP MAPT MAP2
5 cell body GO:0044297 9.63 SLC1A2 MAPT GFAP
6 axon initial segment GO:0043194 9.51 SCN1A MAP2
7 glial cell projection GO:0097386 9.49 MAPT GFAP
8 axolemma GO:0030673 9.48 SLC1A2 MAPT
9 membrane protein complex GO:0098796 9.37 SLC1A3 SLC1A2
10 astrocyte projection GO:0097449 9.33 SLC1A2 GFAP APP
11 cell surface GO:0009986 9.23 TYROBP SLC1A3 SLC1A2 PRNP MBP CSF1R
12 main axon GO:0044304 9.13 MAPT MAP2 APP

Biological processes related to Leukoencephalopathy, Hereditary Diffuse, with Spheroids according to GeneCards Suite gene sharing:

(show all 35)
# Name GO ID Score Top Affiliating Genes
1 innate immune response GO:0045087 10.01 TYROBP TREM2 S100B IL34 CSF1R APP
2 negative regulation of apoptotic process GO:0043066 9.97 TREM2 SNCA RPS27A PRNP CSF1R CRYAB
3 chemical synaptic transmission GO:0007268 9.92 SNCA SLC1A3 SLC1A2 MBP
4 positive regulation of protein phosphorylation GO:0001934 9.88 TREM2 IL34 CSF1R APP
5 positive regulation of interleukin-6 production GO:0032755 9.81 TYROBP MBP APP
6 response to wounding GO:0009611 9.78 SLC1A3 SLC1A2 GFAP
7 synapse organization GO:0050808 9.74 SNCA MAPT APP
8 cellular response to amyloid-beta GO:1904646 9.72 TREM2 PRNP APP
9 positive regulation of protein tyrosine kinase activity GO:0061098 9.69 PRNP IL34 CSF1R
10 regulation of long-term neuronal synaptic plasticity GO:0048169 9.67 SNCA APP
11 learning or memory GO:0007611 9.67 S100B PRNP MAPT APP
12 positive regulation of macrophage chemotaxis GO:0010759 9.66 IL34 CSF1R
13 multicellular organism aging GO:0010259 9.66 SLC1A2 CRYAB
14 L-glutamate transmembrane transport GO:0015813 9.65 SLC1A3 SLC1A2
15 cellular copper ion homeostasis GO:0006878 9.65 PRNP APP
16 supramolecular fiber organization GO:0097435 9.65 SNCA MAPT
17 osteoclast differentiation GO:0030316 9.65 TYROBP TREM2 CSF1R
18 negative regulation of microtubule polymerization GO:0031115 9.64 SNCA MAP2
19 regulation of microtubule polymerization GO:0031113 9.64 MAPT MAP2
20 amyloid fibril formation GO:1990000 9.63 MAPT APP
21 cellular response to copper ion GO:0071280 9.63 SNCA PRNP APP
22 neuron projection maintenance GO:1990535 9.62 PRNP APP
23 transepithelial transport GO:0070633 9.61 SLC1A3 SLC1A2
24 regulation of peptidyl-tyrosine phosphorylation GO:0050730 9.61 TREM2 PRNP APP
25 L-glutamate import across plasma membrane GO:0098712 9.6 SLC1A3 SLC1A2
26 modulation of age-related behavioral decline GO:0090647 9.59 PRNP APP
27 positive regulation of macrophage proliferation GO:0120041 9.58 IL34 CSF1R
28 astrocyte activation GO:0048143 9.58 TREM2 MAPT APP
29 positive regulation of macrophage fusion GO:0034241 9.56 TYROBP TREM2
30 microglial cell activation involved in immune response GO:0002282 9.52 TYROBP TREM2
31 negative regulation of long-term synaptic potentiation GO:1900272 9.5 TYROBP PRNP APP
32 positive regulation of neuron death GO:1901216 9.46 TYROBP SNCA PRNP MAPT
33 microglial cell proliferation GO:0061518 9.43 TREM2 IL34 CSF1R
34 microglial cell activation GO:0001774 9.26 TREM2 SNCA MAPT APP
35 D-aspartate import across plasma membrane GO:0070779 8.8 SLC1A3 SLC1A2 GFAP

Molecular functions related to Leukoencephalopathy, Hereditary Diffuse, with Spheroids according to GeneCards Suite gene sharing:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 amyloid-beta binding GO:0001540 9.63 TREM2 PRNP CRYAB
2 tubulin binding GO:0015631 9.61 PRNP MAPT MAP2
3 tau protein binding GO:0048156 9.5 SNCA S100B MAP2
4 apolipoprotein binding GO:0034185 9.49 TREM2 MAPT
5 L-glutamate transmembrane transporter activity GO:0005313 9.48 SLC1A3 SLC1A2
6 lipoprotein particle binding GO:0071813 9.4 TREM2 MAPT
7 cuprous ion binding GO:1903136 9.37 SNCA PRNP
8 microtubule binding GO:0008017 9.35 SNCA PRNP MAPT MAP2 CRYAB
9 identical protein binding GO:0042802 9.28 TYROBP SNCA S100B PRNP MAPT IL34
10 high-affinity glutamate transmembrane transporter activity GO:0005314 9.26 SLC1A3 SLC1A2
11 glutamate:sodium symporter activity GO:0015501 9.16 SLC1A3 SLC1A2

Sources for Leukoencephalopathy, Hereditary Diffuse, with Spheroids

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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....