HDLS1
MCID: LKN033
MIFTS: 63

Leukoencephalopathy, Hereditary Diffuse, with Spheroids 1 (HDLS1)

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Aliases & Classifications for Leukoencephalopathy, Hereditary Diffuse, with Spheroids 1

MalaCards integrated aliases for Leukoencephalopathy, Hereditary Diffuse, with Spheroids 1:

Name: Leukoencephalopathy, Hereditary Diffuse, with Spheroids 1 57 73
Hereditary Diffuse Leukoencephalopathy with Spheroids 11 19 58 28 5 75
Adult-Onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia 11 19 42 58 14
Alsp 57 42 58 73
Autosomal Dominant Leukoencephalopathy with Neuroaxonal Spheroids 19 58 73
Leukoencephalopathy, Diffuse Hereditary, with Spheroids 1 57 28 5
Subcortical Gliosis of Neumann 57 58 73
Gpsc 57 58 73
Hdls 19 58 73
Hereditary Diffuse Leukoencephalopathy with Axonal Spheroids and Pigmented Glia 42 58
Leukoencephalopathy, Adult-Onset, with Axonal Spheroids and Pigmented Glia 57 73
Leukoencephalopathy, Diffuse Hereditary, with Spheroids 19 73
Gliosis, Familial Progressive Subcortical 57 12
Pigmentary Orthochromatic Leukodystrophy 19 58
Familial Progressive Subcortical Gliosis 58 73
Hdls1 57 73
Pold 19 58
Leukoencephalopathy with Neuroaxonal Spheroids, Autosomal Dominant 57
Hereditary Diffuse Leukoencephalopathy with Axonal Spheroids 19
Leukoencephalopathy, Diffuse Hereditary, with Spheroid 38
Adult-Onset Leukodystrophy with Neuroaxonal Spheroids 19
Dementia, Familial, Neumann Type 57
Familial Dementia, Neumann Type 58
Familial Dementia Neumann Type 73
Neuroaxonal Leukodystrophy 19
Fpsg 58

Characteristics:


Inheritance:

Leukoencephalopathy, Hereditary Diffuse, with Spheroids 1: Autosomal dominant 57
Hereditary Diffuse Leukoencephalopathy with Axonal Spheroids and Pigmented Glia: Autosomal dominant 58

Prevelance:

Hereditary Diffuse Leukoencephalopathy with Axonal Spheroids and Pigmented Glia: <1/1000000 (Worldwide) 58

Age Of Onset:

Hereditary Diffuse Leukoencephalopathy with Axonal Spheroids and Pigmented Glia: Adult 58

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
rapidly progressive
adult onset
variable presentation and evolution of symptoms
death within 6 years after onset


HPO:

30
leukoencephalopathy, hereditary diffuse, with spheroids 1:
Onset and clinical course rapidly progressive


Classifications:

Orphanet: 58  
Rare neurological diseases


Summaries for Leukoencephalopathy, Hereditary Diffuse, with Spheroids 1

MedlinePlus Genetics: 42 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 1, also known as hereditary diffuse leukoencephalopathy with spheroids, is related to leukoencephalopathy with vanishing white matter and pick disease of brain, and has symptoms including bradykinesia, memory loss and muscle rigidity. An important gene associated with Leukoencephalopathy, Hereditary Diffuse, with Spheroids 1 is CSF1R (Colony Stimulating Factor 1 Receptor), and among its related pathways/superpathways are Hematopoietic Stem Cells and Lineage-specific Markers and Dendritic Cells Developmental Lineage Pathway. The drugs Busulfan and Rituximab have been mentioned in the context of this disorder. Affiliated tissues include brain, endothelial and heart, and related phenotypes are seizure and dysarthria

GARD: 19 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 genetic changes in the CSF1R gene. It is inherited in an autosomal dominant pattern.

OMIM®: 57 Hereditary diffuse leukoencephalopathy with spheroids-1 (HDLS1) 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 08-Dec-2022)

UniProtKB/Swiss-Prot: 73 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.

Orphanet: 58 Hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia is a rare autosomal dominant disease characterized by a complex phenotype including progressive dementia, apraxia, apathy, impaired balance, parkinsonism, spasticity and epilepsy.

Disease Ontology: 11 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.

Wikipedia: 75 Hereditary diffuse leukoencephalopathy with spheroids (HDLS) is a rare adult onset autosomal dominant... more...

Related Diseases for Leukoencephalopathy, Hereditary Diffuse, with Spheroids 1

Diseases in the Leukoencephalopathy, Hereditary Diffuse, with Spheroids 1 family:

Leukoencephalopathy, Hereditary Diffuse, with Spheroids 2

Diseases related to Leukoencephalopathy, Hereditary Diffuse, with Spheroids 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 157)
# Related Disease Score Top Affiliating Genes
1 leukoencephalopathy with vanishing white matter 30.5 EIF2B4 EIF2B3 AARS2
2 pick disease of brain 30.4 TREM2 TMEM106B GRN C9orf72 AIF1
3 echolalia 30.2 GRN C9orf72
4 neuronal ceroid lipofuscinosis 29.9 TMEM106B GRN CTSA C9orf72 AIF1
5 leukodystrophy 29.9 TMEM106B NOTCH3 EIF2B4 EIF2B3 CSF1R AARS2
6 speech and communication disorders 29.7 TMEM106B GRN C9orf72
7 stroke, ischemic 29.6 P2RY12 NOTCH3 CX3CR1 AIF1
8 dementia, lewy body 29.5 TREM2 TMEM106B GRN C9orf72 AIF1
9 alzheimer disease, familial, 1 29.4 TREM2 NOTCH3 GRN CSF1R C9orf72 AIF1
10 amyotrophic lateral sclerosis 1 29.3 TYROBP TREM2 TMEM119 TMEM106B GRN CX3CR1
11 frontotemporal dementia 29.3 TYROBP TREM2 TMEM106B GRN CSF1R C9orf72
12 polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1 29.3 ZNF23 TYROBP TREM2 TMEM119 IL34 GRN
13 dementia 29.2 TYROBP TREM2 TMEM106B NOTCH3 GRN CSF1R
14 csf1r-related brain malformation and osteopetrosis 11.6
15 dermatoleukodystrophy 11.3
16 hepatic lipase deficiency 11.1
17 csf1r-related adult-onset leukoencephalopathy with axonal spheroids and pigmented glia 11.0
18 leukoencephalopathy, hereditary diffuse, with spheroids 2 11.0
19 lecithin:cholesterol acyltransferase deficiency 10.9
20 high density lipoprotein cholesterol level quantitative trait locus 1 10.9
21 cone-rod dystrophy 2 10.4
22 gracile syndrome 10.4
23 leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation 10.4
24 hereditary ataxia 10.4
25 anosognosia 10.4
26 stuttering 10.4
27 amnestic disorder 10.4
28 autosomal dominant cerebellar ataxia 10.4
29 mutism 10.4
30 tremor 10.4
31 rare neurodegenerative disease 10.4
32 solitary bone cyst 10.3 TYROBP TREM2
33 malignant giant cell tumor of the tendon sheath 10.3 CSF1R CSF1
34 synovium neoplasm 10.3 CSF1R CSF1
35 multiple sclerosis 10.3
36 mirror movements 1 10.3
37 cerebral atrophy 10.3
38 charcot-marie-tooth disease, recessive intermediate b 10.3 AARS2 AARS1
39 nodular tenosynovitis 10.3 CSF1R CSF1
40 gait apraxia 10.3 GRN AARS2
41 charcot-marie-tooth disease, axonal, type 2n 10.3 AARS2 AARS1
42 pigmented villonodular synovitis 10.3 IL34 CSF1R CSF1
43 tenosynovial giant cell tumor 10.3 IL34 CSF1R CSF1
44 neuroaxonal dystrophy 10.3
45 mood disorder 10.3
46 peripheral nervous system disease 10.3
47 cerebrovascular disease 10.3
48 neuropathy 10.3
49 bone benign neoplasm 10.3 IL34 CSF1R CSF1
50 fibrosarcoma of bone 10.2 CSF1R CSF1

Graphical network of the top 20 diseases related to Leukoencephalopathy, Hereditary Diffuse, with Spheroids 1:



Diseases related to Leukoencephalopathy, Hereditary Diffuse, with Spheroids 1

Symptoms & Phenotypes for Leukoencephalopathy, Hereditary Diffuse, with Spheroids 1

Human phenotypes related to Leukoencephalopathy, Hereditary Diffuse, with Spheroids 1:

30 (show all 28)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 seizure 30 Very rare (1%) HP:0001250
2 dysarthria 30 Very rare (1%) HP:0001260
3 gait disturbance 30 Very rare (1%) HP:0001288
4 dysphagia 30 Very rare (1%) HP:0002015
5 memory impairment 30 Very rare (1%) HP:0002354
6 auditory hallucinations 30 Very rare (1%) HP:0008765
7 parkinsonism 30 Very rare (1%) HP:0001300
8 global brain atrophy 30 Very rare (1%) HP:0002283
9 delusions 30 Very rare (1%) HP:0000746
10 corpus callosum atrophy 30 Very rare (1%) HP:0007371
11 somatic sensory dysfunction 30 Very rare (1%) HP:0003474
12 impaired executive functioning 30 Very rare (1%) HP:0033051
13 spasticity 30 HP:0001257
14 hyperreflexia 30 HP:0001347
15 depression 30 HP:0000716
16 leukoencephalopathy 30 HP:0002352
17 rigidity 30 HP:0002063
18 abnormal cerebral white matter morphology 30 HP:0002500
19 frontal lobe dementia 30 HP:0000727
20 mutism 30 HP:0002300
21 postural instability 30 HP:0002172
22 apraxia 30 HP:0002186
23 neuronal loss in central nervous system 30 HP:0002529
24 bradykinesia 30 HP:0002067
25 gliosis 30 HP:0002171
26 shuffling gait 30 HP:0002362
27 cns demyelination 30 HP:0007305
28 central nervous system axonal spheroid 30 HP:0034381

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
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 08-Dec-2022)

UMLS symptoms related to Leukoencephalopathy, Hereditary Diffuse, with Spheroids 1:


bradykinesia; memory loss; muscle rigidity; muscle spasticity

MGI Mouse Phenotypes related to Leukoencephalopathy, Hereditary Diffuse, with Spheroids 1:

45 (show all 12)
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 10.34 AARS1 AIF1 C9orf72 CSF1 CSF1R CTSA
2 homeostasis/metabolism MP:0005376 10.32 AARS1 AIF1 C9orf72 CSF1 CSF1R CTSA
3 growth/size/body region MP:0005378 10.3 AARS1 AARS2 AIF1 C9orf72 CSF1 CSF1R
4 cellular MP:0005384 10.28 AARS1 C9orf72 CSF1 CSF1R CTSA CX3CR1
5 behavior/neurological MP:0005386 10.18 AARS1 AARS2 C9orf72 CSF1 CSF1R CTSA
6 immune system MP:0005387 10.13 AARS2 AIF1 C9orf72 CSF1 CSF1R CTSA
7 cardiovascular system MP:0005385 10.1 AARS1 AARS2 AIF1 C9orf72 CSF1 CTSA
8 hematopoietic system MP:0005397 10.06 AARS2 AIF1 C9orf72 CSF1 CSF1R CTSA
9 no phenotypic analysis MP:0003012 10.05 C9orf72 CSF1 CSF1R CX3CR1 GRN IL34
10 skeleton MP:0005390 9.91 AIF1 CSF1 CSF1R CX3CR1 NOTCH3 TMEM106B
11 mortality/aging MP:0010768 9.77 AARS1 AARS2 C9orf72 CSF1 CSF1R CTSA
12 integument MP:0010771 9.32 AARS1 C9orf72 CSF1 CSF1R CTSA CX3CR1

Drugs & Therapeutics for Leukoencephalopathy, Hereditary Diffuse, with Spheroids 1

Drugs for Leukoencephalopathy, Hereditary Diffuse, with Spheroids 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 20)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Busulfan Approved, Investigational Phase 2 55-98-1 2478
2
Rituximab Approved Phase 2 174722-31-7
3
Fludarabine Approved Phase 2 75607-67-9, 21679-14-1 30751 657237
4
Alemtuzumab Approved, Investigational Phase 2 216503-57-0
5
Celecoxib Approved, Investigational Phase 2 169590-42-5 2662
6
Acetylcysteine Approved, Investigational Phase 2 616-91-1 581 12035
7
Thiotepa Approved, Investigational Phase 2 52-24-4 5453
8
Tocopherol Approved, Investigational Phase 2 1406-66-2
9
DL-alpha-Tocopherol Approved, Experimental, Investigational, Nutraceutical, Vet_approved Phase 2 59-02-9, 10191-41-0 2116 14985
10
Lipoic acid Approved, Investigational, Nutraceutical Phase 2 1200-22-2 864 6112
11
Tocotrienol Investigational Phase 2 6829-55-6 9929901
12 Vitamins Phase 2
13 Alpha-lipoic Acid Phase 2
14 Antilymphocyte Serum Phase 2
15 N-monoacetylcystine Phase 2
16 Tocotrienols Phase 2
17 Tocopherols Phase 2
18 Immunoglobulins Phase 2
19 Immune Checkpoint Inhibitors Phase 2
20 Antibodies Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 MT2013-31: Allogeneic Hematopoietic Cell Transplantation for Inherited Metabolic Disorders and Severe Osteopetrosis Following Conditioning With Busulfan (Therapeutic Drug Monitoring), Fludarabine +/- ATG Recruiting NCT02171104 Phase 2 IMD Preparative Regimen;Osteopetrosis Only Preparative Regimen;Osteopetrosis Haploidentical Only Preparative Regimen;cALD SR-A (Standard-Risk, Regimen A);cALD SR-B (Standard-Risk, Regimen B);cALD HR-D (High-Risk, Regimen C);cALD HR-D (High-Risk, Regimen D)
2 A Phase II Open Label Study of Toripalimab, a PD-1 Antibody, in Participants With POLE or POLD-1 Mutated and Non-MSI-H Advanced Solid Tumors Recruiting NCT03810339 Phase 2 Toripalimab
3 Clinical Effects in Cervical Spinal Mobilization Versus Resonant Oscillation Mobilization (POLD) in Neck Pain. A Randomized Clinical Trial. Completed NCT03149614
4 Effectiveness of Resonant Oscillation, According to the Pold Concept in Chronic Nonspecific Low Back Pain Completed NCT01591824
5 The Myelin Disorders Biorepository Project and Global Leukodystrophy Initiative Clinical Trials Network Recruiting NCT03047369
6 MATRIX - "Modeling Macrophages Activation Pattern in X-linked Adrenoleukodystrophy, Metachromatic Leukodystrophy and Adult Onset Leukoencephalopathy With Axonal Spheroids and Pigmented Glia" Recruiting NCT04925349
7 A Natural History Study of Patients With Adult-Onset Leukoencephalopathy With Axonal Spheroids and Pigmented Glia (ALSP) Recruiting NCT05020743
8 Longitudinal Assessment of CSF1R-Related Leukoencephalopathy Following Stem Cell Transplantation Enrolling by invitation NCT04503213
9 Study of the Influence of Manual Therapy According to the POLD Method Within a Pain Treatment Program in Fibromyalgia Suspended NCT03939416

Search NIH Clinical Center for Leukoencephalopathy, Hereditary Diffuse, with Spheroids 1

Genetic Tests for Leukoencephalopathy, Hereditary Diffuse, with Spheroids 1

Genetic tests related to Leukoencephalopathy, Hereditary Diffuse, with Spheroids 1:

# Genetic test Affiliating Genes
1 Hereditary Diffuse Leukoencephalopathy with Spheroids 28 CSF1R
2 Leukoencephalopathy, Diffuse Hereditary, with Spheroids 1 28 CSF1R

Anatomical Context for Leukoencephalopathy, Hereditary Diffuse, with Spheroids 1

Organs/tissues related to Leukoencephalopathy, Hereditary Diffuse, with Spheroids 1:

MalaCards : Brain, Endothelial, Heart, Liver, Smooth Muscle, Kidney, Spinal Cord

Publications for Leukoencephalopathy, Hereditary Diffuse, with Spheroids 1

Articles related to Leukoencephalopathy, Hereditary Diffuse, with Spheroids 1:

(show top 50) (show all 1252)
# Title Authors PMID Year
1
Haploinsufficiency of CSF-1R and clinicopathologic characterization in patients with HDLS. 62 57 5
24336230 2014
2
CSF1R mutations link POLD and HDLS as a single disease entity. 62 57 5
23408870 2013
3
Mutations in the colony stimulating factor 1 receptor (CSF1R) gene cause hereditary diffuse leukoencephalopathy with spheroids. 62 57 5
22197934 2011
4
Hereditary diffuse leukoencephalopathy with spheroids: clinical, pathologic and genetic studies of a new kindred. 62 57 5
16523341 2006
5
Autosomal dominant subcortical gliosis presenting as frontotemporal dementia. 57 5
19153373 2009
6
Progressive familial leukodystrophy of late onset. 57 5
8614507 1996
7
Clinical features and genetic characteristics of hereditary diffuse leukoencephalopathy with spheroids due to CSF1R mutation: a case report and literature review. 62 5
32055602 2020
8
An AARS variant as the likely cause of Swedish type hereditary diffuse leukoencephalopathy with spheroids. 62 5
31775912 2019
9
Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia linked CSF1R mutation: Report of four Korean cases. 62 5
25563800 2015
10
Increasing and persistent DWI changes in a patient with hereditary diffuse leukoencephalopathy with spheroids. 62 5
24094860 2013
11
A novel A781V mutation in the CSF1R gene causes hereditary diffuse leucoencephalopathy with axonal spheroids. 62 5
23816250 2013
12
Genetic analysis of inherited leukodystrophies: genotype-phenotype correlations in the CSF1R gene. 62 5
23649896 2013
13
MRI characteristics and scoring in HDLS due to CSF1R gene mutations. 62 57
22843259 2012
14
Hereditary diffuse leukoencephalopathy with axonal spheroids caused by R782H mutation in CSF1R: case report. 62 5
22503135 2012
15
Autosomal dominant diffuse leukoencephalopathy with neuroaxonal spheroids. 62 57
10668715 2000
16
Tau gene mutation in familial progressive subcortical gliosis. 62 57
10202939 1999
17
Familial progressive subcortical gliosis. 62 57
7936288 1994
18
Molecular diagnostic experience of whole-exome sequencing in adult patients. 5
26633545 2016
19
[Familial dementia of the Neumann type (subcortical gliosis)]. 57
2868516 1985
20
Progressive subcortical gliosis, a rare form of presenile dementia. 57
5339109 1967
21
Pick's disease. 57
18153924 1949
22
Cholangiocarcinoma progression depends on the uptake and metabolization of extracellular lipids. 62
35030285 2022
23
Assessment of genetic markers for multilocus sequence typing (MLST) of Fasciola isolates from Iran. 62
36343016 2022
24
Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia by a novel mutation of the CSF1R gene. 62
35971044 2022
25
High-density lipoprotein revisited: biological functions and clinical relevance. 62
36337032 2022
26
Chitotriosidase is a biomarker for adult-onset leukoencephalopathy with axonal spheroids and pigmented glia. 62
36271674 2022
27
Leveraging knowledge of HDLs major protein ApoA1: Structure, function, mutations, and potential therapeutics. 62
36063649 2022
28
Development of novel DNA marker for species discrimination of Fasciola flukes based on the fatty acid binding protein type I gene. 62
36266710 2022
29
Dispersal direction of Malaysian Fasciola gigantica from neighboring southeast Asian countries inferred using mitochondrial DNA analysis. 62
36202207 2022
30
Population structure, molecular characterization, and phylogenetic analysis of Fasciola gigantica from two locations in Uganda. 62
36070805 2022
31
Emergence of a multidrug-resistant and virulent Streptococcus pneumoniae lineage mediates serotype replacement after PCV13: an international whole-genome sequencing study. 62
35985351 2022
32
Impaired exercise outcomes with significant bronchodilator responsiveness in children with prematurity-associated obstructive lung disease. 62
35638186 2022
33
The Spatial Distribution Patterns, Physicochemical Properties, and Structural Characterization of Proteins in Oysters (Crassostrea hongkongensis). 62
36140959 2022
34
Polystyrene Nanoplastic Exposure Induces Developmental Toxicity by Activating the Oxidative Stress Response and Base Excision Repair Pathway in Zebrafish (Danio rerio). 62
36119974 2022
35
Green pharmaceutical supply chain coordination considering green investment, green logistics, and government intervention. 62
35451714 2022
36
Characterization of Emerging Serotype 19A Pneumococcal Strains in Invasive Disease and Carriage, Belgium. 62
35876488 2022
37
Image Phenotyping of Preterm-born Children using Hyperpolarised 129Xe Lung MRI and Multiple-breath Washout. 62
35972833 2022
38
Strategies Used by Local Law Enforcement Agencies to Prevent Overservice of Alcohol in the United States. 62
36006532 2022
39
The Current and Evolving Role of Immunotherapy in Metastatic Colorectal Cancer. 62
35209820 2022
40
Neurological aspects of SARS-CoV-2 infection: lipoproteins and exosomes as Trojan horses. 62
35613979 2022
41
High-Density Lipoproteins in Non-Cardiovascular Diseases. 62
36012681 2022
42
Dominant-acting CSF1R variants cause microglial depletion and altered astrocytic phenotype in zebrafish and adult-onset leukodystrophy. 62
35713703 2022
43
HDL functionality in type 1 diabetes: enhancement of cholesterol efflux capacity in relationship with decreased HDL carbamylation after improvement of glycemic control. 62
35962339 2022
44
The pleiotropic effects of high-density lipoproteins and apolipoprotein A-I. 62
36008277 2022
45
Alien-hand syndrome with mirror movements in hereditary diffuse leukoencephalopathy with spheroids. 62
35332077 2022
46
Primary Microglia Dysfunction or Microgliopathy: A Cause of Dementias and Other Neurological or Psychiatric Disorders. 62
35760218 2022
47
Adult-onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia (ALSP) Masquerading Primary Progressive Aphasia. 62
36211183 2022
48
Adult-Onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia (ALSP) in an Indian Man. 62
36211172 2022
49
High-Density Lipoproteins: A Role in Inflammation in COPD. 62
35897703 2022
50
Pneumococcal genetic variability in age-dependent bacterial carriage. 62
35881438 2022

Variations for Leukoencephalopathy, Hereditary Diffuse, with Spheroids 1

ClinVar genetic disease variations for Leukoencephalopathy, Hereditary Diffuse, with Spheroids 1:

5 (show top 50) (show all 194)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CSF1R NM_001288705.3(CSF1R):c.2483T>C (p.Phe828Ser) SNV Pathogenic
65686 rs397515557 GRCh37: 5:149435660-149435660
GRCh38: 5:150056097-150056097
2 CSF1R NM_001288705.3(CSF1R):c.2655-2A>G SNV Pathogenic
162117 rs690016554 GRCh37: 5:149433995-149433995
GRCh38: 5:150054432-150054432
3 CSF1R NM_001288705.3(CSF1R):c.2527_2530delinsGGCA (p.Ile843_Leu844delinsGlyIle) INDEL Pathogenic
549854 rs1561904557 GRCh37: 5:149435613-149435616
GRCh38: 5:150056050-150056053
4 CSF1R NM_001288705.3(CSF1R):c.2509G>T (p.Asp837Tyr) SNV Pathogenic
29814 rs387906662 GRCh37: 5:149435634-149435634
GRCh38: 5:150056071-150056071
5 CSF1R NM_001288705.3(CSF1R):c.1754-2A>G SNV Pathogenic
29812 rs281860267 GRCh37: 5:149441160-149441160
GRCh38: 5:150061597-150061597
6 CSF1R NM_001288705.3(CSF1R):c.1897G>A (p.Glu633Lys) SNV Pathogenic
29811 rs281860269 GRCh37: 5:149440497-149440497
GRCh38: 5:150060934-150060934
7 CSF1R NM_001288705.3(CSF1R):c.2624T>C (p.Met875Thr) SNV Pathogenic
29810 rs281860279 GRCh37: 5:149434830-149434830
GRCh38: 5:150055267-150055267
8 CSF1R NM_001288705.3(CSF1R):c.1969+1G>A SNV Pathogenic
978469 rs1757478199 GRCh37: 5:149440424-149440424
GRCh38: 5:150060861-150060861
9 CSF1R NM_001288705.3(CSF1R):c.1441C>T (p.Gln481Ter) SNV Pathogenic
520697 rs917027829 GRCh37: 5:149449505-149449505
GRCh38: 5:150069942-150069942
10 CSF1R NM_001288705.3(CSF1R):c.2498C>A (p.Thr833Lys) SNV Pathogenic
1685676 GRCh37: 5:149435645-149435645
GRCh38: 5:150056082-150056082
11 CSF1R NM_001288705.3(CSF1R):c.2060dup (p.Ser688fs) DUP Pathogenic
120322 rs587777245 GRCh37: 5:149439334-149439335
GRCh38: 5:150059771-150059772
12 CSF1R NM_001288705.3(CSF1R):c.2442+1G>T SNV Pathogenic
120323 rs587777246 GRCh37: 5:149435781-149435781
GRCh38: 5:150056218-150056218
13 CSF1R NM_001288705.3(CSF1R):c.2221G>A (p.Asp741Asn) SNV Pathogenic
1709172 GRCh37: 5:149437067-149437067
GRCh38: 5:150057504-150057504
14 CSF1R NM_001288705.3(CSF1R):c.2342C>A (p.Ala781Glu) SNV Pathogenic
120324 rs587777247 GRCh37: 5:149435882-149435882
GRCh38: 5:150056319-150056319
15 CSF1R NM_001288705.3(CSF1R):c.2342C>T (p.Ala781Val) SNV Pathogenic
162118 rs587777247 GRCh37: 5:149435882-149435882
GRCh38: 5:150056319-150056319
16 CSF1R NM_005211.3(CSF1R):c.2467C>T SNV Pathogenic
162126 rs690016562 GRCh37: 5:149435675-149435675
GRCh38: 5:150056112-150056112
17 CSF1R NM_001288705.3(CSF1R):c.2629C>T (p.Gln877Ter) SNV Likely Pathogenic
162120 rs690016556 GRCh37: 5:149434825-149434825
GRCh38: 5:150055262-150055262
18 CSF1R NM_001288705.3(CSF1R):c.2541G>C (p.Glu847Asp) SNV Likely Pathogenic
162114 rs690016551 GRCh37: 5:149435602-149435602
GRCh38: 5:150056039-150056039
19 CSF1R NM_001288705.3(CSF1R):c.2344C>T (p.Arg782Cys) SNV Likely Pathogenic
Likely Pathogenic
1297008 GRCh37: 5:149435880-149435880
GRCh38: 5:150056317-150056317
20 CSF1R NM_001288705.3(CSF1R):c.2381T>C (p.Ile794Thr) SNV Likely Pathogenic
29813 rs281860274 GRCh37: 5:149435843-149435843
GRCh38: 5:150056280-150056280
21 CSF1R NM_001288705.3(CSF1R):c.2563C>T (p.Pro855Ser) SNV Likely Pathogenic
1299346 GRCh37: 5:149434891-149434891
GRCh38: 5:150055328-150055328
22 AARS1 NM_001605.3(AARS1):c.455G>T (p.Cys152Phe) SNV Likely Pathogenic
1299470 GRCh37: 16:70310413-70310413
GRCh38: 16:70276510-70276510
23 CSF1R NM_001288705.3(CSF1R):c.1069A>T (p.Lys357Ter) SNV Likely Pathogenic
1333351 GRCh37: 5:149452877-149452877
GRCh38: 5:150073314-150073314
24 CSF1R NM_001288705.3(CSF1R):c.2467G>A (p.Ala823Thr) SNV Likely Pathogenic
1338803 GRCh37: 5:149435676-149435676
GRCh38: 5:150056113-150056113
25 CSF1R NM_001288705.3(CSF1R):c.1772G>A (p.Gly591Glu) SNV Likely Pathogenic
982040 rs1757528753 GRCh37: 5:149441140-149441140
GRCh38: 5:150061577-150061577
26 CSF1R NM_001288705.3(CSF1R):c.2503C>T (p.Gln835Ter) SNV Likely Pathogenic
1029947 rs1403823146 GRCh37: 5:149435640-149435640
GRCh38: 5:150056077-150056077
27 CSF1R NM_001288705.3(CSF1R):c.2345G>A (p.Arg782His) SNV Likely Pathogenic
38378 GRCh37: 5:149435879-149435879
GRCh38: 5:150056316-150056316
28 CSF1R NM_001288705.3(CSF1R):c.2136C>T (p.Asp712=) SNV Uncertain Significance
904047 rs772656669 GRCh37: 5:149437152-149437152
GRCh38: 5:150057589-150057589
29 CSF1R NM_001288705.3(CSF1R):c.2531T>C (p.Leu844Pro) SNV Uncertain Significance
802166 rs1581279568 GRCh37: 5:149435612-149435612
GRCh38: 5:150056049-150056049
30 CSF1R NM_001288705.3(CSF1R):c.*233C>A SNV Uncertain Significance
903980 rs1034592507 GRCh37: 5:149433399-149433399
GRCh38: 5:150053836-150053836
31 CSF1R NM_001288705.3(CSF1R):c.*232C>G SNV Uncertain Significance
903981 rs952163871 GRCh37: 5:149433400-149433400
GRCh38: 5:150053837-150053837
32 CSF1R NM_001288705.3(CSF1R):c.*230C>A SNV Uncertain Significance
903982 rs373205661 GRCh37: 5:149433402-149433402
GRCh38: 5:150053839-150053839
33 CSF1R NM_001288705.3(CSF1R):c.354C>T (p.Phe118=) SNV Uncertain Significance
904891 rs750046493 GRCh37: 5:149459853-149459853
GRCh38: 5:150080290-150080290
34 CSF1R NM_001288705.3(CSF1R):c.337C>G (p.Gln113Glu) SNV Uncertain Significance
904892 rs1758477235 GRCh37: 5:149459870-149459870
GRCh38: 5:150080307-150080307
35 CSF1R NM_001288705.3(CSF1R):c.*768T>G SNV Uncertain Significance
905797 rs1757001567 GRCh37: 5:149432864-149432864
GRCh38: 5:150053301-150053301
36 CSF1R NM_001288705.3(CSF1R):c.*101T>C SNV Uncertain Significance
905863 rs1757050261 GRCh37: 5:149433531-149433531
GRCh38: 5:150053968-150053968
37 CSF1R NM_001288705.3(CSF1R):c.*56G>A SNV Uncertain Significance
905864 rs745652939 GRCh37: 5:149433576-149433576
GRCh38: 5:150054013-150054013
38 CSF1R NM_001288705.3(CSF1R):c.*5T>C SNV Uncertain Significance
905865 rs894716510 GRCh37: 5:149433627-149433627
GRCh38: 5:150054064-150054064
39 CSF1R NM_001288705.3(CSF1R):c.*749C>T SNV Uncertain Significance
906306 rs564262683 GRCh37: 5:149432883-149432883
GRCh38: 5:150053320-150053320
40 CSF1R NM_001288705.3(CSF1R):c.1716C>T (p.Asn572=) SNV Uncertain Significance
352144 rs772750557 GRCh37: 5:149441323-149441323
GRCh38: 5:150061760-150061760
41 CSF1R NM_001288705.3(CSF1R):c.*539C>A SNV Uncertain Significance
352105 rs373206666 GRCh37: 5:149433093-149433093
GRCh38: 5:150053530-150053530
42 CSF1R NM_001288705.3(CSF1R):c.*715C>T SNV Uncertain Significance
352102 rs572860735 GRCh37: 5:149432917-149432917
GRCh38: 5:150053354-150053354
43 CSF1R NM_001288705.3(CSF1R):c.*249A>G SNV Uncertain Significance
352111 rs543512013 GRCh37: 5:149433383-149433383
GRCh38: 5:150053820-150053820
44 CSF1R NM_001288705.3(CSF1R):c.2622A>C (p.Gln874His) SNV Uncertain Significance
352131 rs886060255 GRCh37: 5:149434832-149434832
GRCh38: 5:150055269-150055269
45 CSF1R NM_001288705.3(CSF1R):c.1306G>A (p.Gly436Ser) SNV Uncertain Significance
352153 rs886060257 GRCh37: 5:149449758-149449758
GRCh38: 5:150070195-150070195
46 CSF1R NM_001288705.3(CSF1R):c.*232_*233dup DUP Uncertain Significance
352113 rs200927456 GRCh37: 5:149433398-149433399
GRCh38: 5:150053835-150053836
47 LOC111188156, CSF1R NM_001288705.3(CSF1R):c.-101G>T SNV Uncertain Significance
352182 rs560184933 GRCh37: 5:149466091-149466091
GRCh38: 5:150086528-150086528
48 CSF1R NM_001288705.3(CSF1R):c.*733G>A SNV Uncertain Significance
906307 rs1263927433 GRCh37: 5:149432899-149432899
GRCh38: 5:150053336-150053336
49 CSF1R NM_001288705.3(CSF1R):c.*619G>T SNV Uncertain Significance
906308 rs1757015333 GRCh37: 5:149433013-149433013
GRCh38: 5:150053450-150053450
50 CSF1R NM_001288705.3(CSF1R):c.*156G>A SNV Uncertain Significance
352117 rs886060254 GRCh37: 5:149433476-149433476
GRCh38: 5:150053913-150053913

UniProtKB/Swiss-Prot genetic disease variations for Leukoencephalopathy, Hereditary Diffuse, with Spheroids 1:

73 (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 1

Search GEO for disease gene expression data for Leukoencephalopathy, Hereditary Diffuse, with Spheroids 1.

Pathways for Leukoencephalopathy, Hereditary Diffuse, with Spheroids 1

Pathways related to Leukoencephalopathy, Hereditary Diffuse, with Spheroids 1 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.4 NOTCH3 CX3CR1 CSF1
2 11 CX3CR1 CSF1R CSF1
3 10.18 IL34 CSF1R CSF1

GO Terms for Leukoencephalopathy, Hereditary Diffuse, with Spheroids 1

Cellular components related to Leukoencephalopathy, Hereditary Diffuse, with Spheroids 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 guanyl-nucleotide exchange factor complex GO:0032045 9.46 EIF2B3 C9orf72
2 eukaryotic translation initiation factor 2B complex GO:0005851 9.26 EIF2B4 EIF2B3
3 CSF1-CSF1R complex GO:1990682 8.92 CSF1R CSF1

Biological processes related to Leukoencephalopathy, Hereditary Diffuse, with Spheroids 1 according to GeneCards Suite gene sharing:

(show all 19)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of protein phosphorylation GO:0001934 10.19 AIF1 CSF1R IL34 TMEM119 TREM2
2 response to ischemia GO:0002931 10.01 CSF1 CSF1R CX3CR1 TREM2
3 osteoclast differentiation GO:0030316 9.97 TYROBP TREM2 CSF1R CSF1
4 positive regulation of macrophage chemotaxis GO:0010759 9.93 IL34 CSF1R CSF1
5 response to axon injury GO:0048678 9.92 TYROBP TREM2 P2RY12 AIF1
6 positive regulation of chemotaxis GO:0050921 9.91 TREM2 P2RY12 AIF1
7 negative regulation of long-term synaptic potentiation GO:1900272 9.88 TYROBP CX3CR1
8 positive regulation of monocyte differentiation GO:0045657 9.87 IL34 CSF1
9 positive regulation of mononuclear cell migration GO:0071677 9.85 CSF1 AIF1
10 positive regulation of macrophage fusion GO:0034241 9.84 TYROBP TREM2
11 macrophage colony-stimulating factor signaling pathway GO:0038145 9.83 CSF1R CSF1
12 alanyl-tRNA aminoacylation GO:0006419 9.81 AARS2 AARS1
13 regulation of microglial cell migration GO:1904139 9.78 P2RY12 CX3CR1
14 microglial cell proliferation GO:0061518 9.76 TREM2 IL34 CSF1R CSF1
15 positive regulation of macrophage proliferation GO:0120041 9.73 CSF1 CSF1R IL34
16 tRNA metabolic process GO:0006399 9.58 AARS2 AARS1
17 tRNA aminoacylation GO:0043039 9.56 AARS2 AARS1
18 positive regulation of microglial cell migration GO:1904141 9.56 TREM2 P2RY12 CX3CR1 CSF1
19 microglial cell activation involved in immune response GO:0002282 9.23 TYROBP TREM2 GRN CX3CR1

Molecular functions related to Leukoencephalopathy, Hereditary Diffuse, with Spheroids 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 aminoacyl-tRNA editing activity GO:0002161 9.56 AARS2 AARS1
2 alanine-tRNA ligase activity GO:0004813 9.46 AARS2 AARS1
3 macrophage colony-stimulating factor receptor binding GO:0005157 9.26 IL34 CSF1
4 catalytic activity, acting on a tRNA GO:0140101 8.62 AARS2 AARS1

Sources for Leukoencephalopathy, Hereditary Diffuse, with Spheroids 1

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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