HDLS
MCID: LKN025
MIFTS: 56

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 58
Hereditary Diffuse Leukoencephalopathy with Spheroids 12 54 60 38 30 6 74
Adult-Onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia 12 54 26 60
Hdls 58 54 60 76
Alsp 58 26 60 76
Autosomal Dominant Leukoencephalopathy with Neuroaxonal Spheroids 54 60 76
Leukoencephalopathy, Diffuse Hereditary, with Spheroids 58 54 76
Subcortical Gliosis of Neumann 58 60 76
Gpsc 58 60 76
Hereditary Diffuse Leukoencephalopathy with Axonal Spheroids and Pigmented Glia 26 60
Leukoencephalopathy, Adult-Onset, with Axonal Spheroids and Pigmented Glia 58 76
Gliosis, Familial Progressive Subcortical 58 13
Pigmentary Orthochromatic Leukodystrophy 54 60
Familial Progressive Subcortical Gliosis 60 76
Gliosis 45 74
Pold 54 60
Leukoencephalopathy, Adult-Onset, with Axonal Spheroids and Pigmented Glia; Alsp 58
Leukoencephalopathy with Neuroaxonal Spheroids, Autosomal Dominant 58
Hereditary Diffuse Leukoencephalopathy with Axonal Spheroids 54
Leukoencephalopathy, Diffuse Hereditary, with Spheroid 41
Adult-Onset Leukodystrophy with Neuroaxonal Spheroids 54
Gliosis, Familial Progressive Subcortical; Gpsc 58
Dementia, Familial, Neumann Type 58
Familial Dementia, Neumann Type 60
Familial Dementia Neumann Type 76
Neuroaxonal Leukodystrophy 54
Fpsg 60

Characteristics:

Orphanet epidemiological data:

60
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:

58
Inheritance:
autosomal dominant

Miscellaneous:
adult onset
rapidly progressive
variable presentation and evolution of symptoms
death within 6 years after onset


HPO:

33
leukoencephalopathy, hereditary diffuse, with spheroids:
Onset and clinical course adult onset rapidly progressive
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 60  
Rare neurological diseases


Summaries for Leukoencephalopathy, Hereditary Diffuse, with Spheroids

Genetics Home Reference : 26 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.

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 bradykinesia. An important gene associated with Leukoencephalopathy, Hereditary Diffuse, with Spheroids is CSF1R (Colony Stimulating Factor 1 Receptor), and among its related pathways/superpathways are Neuroscience and Neural Stem Cell Differentiation Pathways and Lineage-specific Markers. Affiliated tissues include brain, parietal lobe and t cells, and related phenotypes are depressivity and spasticity

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.

NIH Rare Diseases : 54 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 : 58 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)

UniProtKB/Swiss-Prot : 76 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 : 77 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 394)
# Related Disease Score Top Affiliating Genes
1 creutzfeldt-jakob disease 31.5 CRYAB MAPT PRNP
2 supranuclear palsy, progressive, 1 31.5 APP MAPT RPS27A SNCA
3 pick disease of brain 31.1 APP CRYAB MAPT RPS27A SNCA
4 hydrocephalus 30.1 APP GFAP MAPT
5 temporal lobe epilepsy 30.0 GFAP SLC1A2 SLC1A3
6 ischemia 29.7 APP GFAP MAP2
7 cerebral amyloid angiopathy, cst3-related 29.5 APP MAPT PRNP
8 dementia 29.5 APP MAPT PRNP SNCA
9 frontotemporal dementia 29.5 APP CRYAB MAPT PRNP RPS27A SNCA
10 scrapie 29.2 APP GFAP MAP2 PRNP
11 prion disease 28.8 APP MAP2 MAPT PRNP
12 alzheimer disease 28.7 APP GFAP MAP2 MAPT PRNP SNCA
13 amyotrophic lateral sclerosis 1 27.0 APP CRYAB GFAP MAP2 MAPT PRNP
14 hypoalphalipoproteinemia, primary 12.4
15 tangier disease 12.2
16 hepatic lipase deficiency 11.6
17 hyperalphalipoproteinemia 1 11.5
18 glucose intolerance 11.3
19 fish-eye disease 11.3
20 hyperlipidemia, familial combined 11.3
21 lecithin:cholesterol acyltransferase deficiency 11.3
22 huntington disease-like syndrome 11.3
23 symmetrical thalamic calcifications 11.2
24 csf1r-related adult-onset leukoencephalopathy with axonal spheroids and pigmented glia 11.1
25 glutaric acidemia i 11.1
26 chylomicron retention disease 11.1
27 hypobetalipoproteinemia, familial, 2 11.1
28 apolipoprotein c-iii deficiency 11.1
29 analbuminemia 11.1
30 frontotemporal dementia and/or amyotrophic lateral sclerosis 1 11.0
31 vitreoretinochoroidopathy 11.0
32 pontocerebellar hypoplasia, type 4 11.0
33 dystonia 3, torsion, x-linked 11.0
34 cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 11.0
35 pontocerebellar hypoplasia, type 1a 11.0
36 frontotemporal dementia and/or amyotrophic lateral sclerosis 2 11.0
37 frontotemporal dementia and/or amyotrophic lateral sclerosis 3 11.0
38 frontotemporal dementia and/or amyotrophic lateral sclerosis 4 11.0
39 aids dementia complex 11.0
40 superficial siderosis 11.0
41 hyperlipoproteinemia, type v 11.0
42 abdominal obesity-metabolic syndrome 1 11.0
43 high density lipoprotein cholesterol level quantitative trait locus 1 11.0
44 lipodystrophy, familial partial, type 6 11.0
45 hyperlipoproteinemia, type iii 11.0
46 prediabetes syndrome 11.0
47 heart disease 10.6
48 arteries, anomalies of 10.6
49 coronary heart disease 1 10.6
50 coronary artery anomaly 10.6

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:

33 (show all 16)
# Description HPO Frequency HPO Source Accession
1 depressivity 33 HP:0000716
2 spasticity 33 HP:0001257
3 hyperreflexia 33 HP:0001347
4 memory impairment 33 HP:0002354
5 rigidity 33 HP:0002063
6 apraxia 33 HP:0002186
7 bradykinesia 33 HP:0002067
8 shuffling gait 33 HP:0002362
9 neuronal loss in central nervous system 33 HP:0002529
10 gliosis 33 HP:0002171
11 postural instability 33 HP:0002172
12 mutism 33 HP:0002300
13 abnormality of the cerebral white matter 33 HP:0002500
14 frontal lobe dementia 33 HP:0000727
15 leukoencephalopathy 33 HP:0002352
16 cns demyelination 33 HP:0007305

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
spasticity
hyperreflexia
rigidity
apraxia
dementia
more
Neurologic Behavioral Psychiatric Manifestations:
depression
executive dysfunction
behavioral changes
flat affect

Clinical features from OMIM:

221820

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


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

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

47
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.17 APP CRYAB CSF1R GFAP MAP2 MAPT
2 cellular MP:0005384 10.06 APP CRYAB CSF1R GFAP MAPT PRNP
3 mortality/aging MP:0010768 10.06 AARS2 APP CSF1R GFAP MAP2 MAPT
4 growth/size/body region MP:0005378 10.02 APP CSF1R GFAP MAP2 MAPT PRNP
5 nervous system MP:0003631 9.96 APP CSF1R GFAP MAP2 MAPT PRNP
6 no phenotypic analysis MP:0003012 9.63 APP CSF1R MAPT PRNP SLC1A3 SNCA
7 normal MP:0002873 9.56 APP CSF1R GFAP MAPT PRNP SCN1A
8 taste/olfaction MP:0005394 8.8 CSF1R MAPT SNCA

Drugs & Therapeutics for Leukoencephalopathy, Hereditary Diffuse, with Spheroids

Search Clinical Trials , 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 30 CSF1R

Anatomical Context for Leukoencephalopathy, Hereditary Diffuse, with Spheroids

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

42
Brain, Parietal Lobe, T Cells, Liver, Heart, Prostate, Eye

Publications for Leukoencephalopathy, Hereditary Diffuse, with Spheroids

Articles related to Leukoencephalopathy, Hereditary Diffuse, with Spheroids:

(show all 28)
# Title Authors Year
1
Mirror movements and blepharoclonus as novel phenomena in hereditary diffuse leukoencephalopathy with spheroids. ( 29983329 )
2019
2
Functional characterization of a novel CSF1R mutation causing hereditary diffuse leukoencephalopathy with spheroids. ( 30729751 )
2019
3
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). ( 29122458 )
2018
4
MR Spectroscopy in Patients with Hereditary Diffuse Leukoencephalopathy with Spheroids and Asymptomatic Carriers of Colony-stimulating Factor 1 Receptor Mutation. ( 28025469 )
2017
5
Suspected Perinatal Depression Revealed to be Hereditary Diffuse Leukoencephalopathy with Spheroids. ( 28122429 )
2017
6
Hereditary diffuse leukoencephalopathy with spheroids - a volumetric and radiological comparison with multiple sclerosis patients and healthy controls. ( 26756564 )
2016
7
CSF1R mosaicism in a family with hereditary diffuse leukoencephalopathy with spheroids. ( 27190017 )
2016
8
A family with hereditary diffuse leukoencephalopathy with spheroids caused by a novel c.2442+2T>C mutation in the CSF1R gene. ( 27423618 )
2016
9
Characteristic microglial features in patients with hereditary diffuse leukoencephalopathy with spheroids. ( 27490250 )
2016
10
Hereditary diffuse leukoencephalopathy with spheroids with phenotype of primary progressive multiple sclerosis. ( 25311247 )
2015
11
Common neuropathological features underlie distinct clinical presentations in three siblings with hereditary diffuse leukoencephalopathy with spheroids caused by CSF1R p.Arg782His. ( 26141825 )
2015
12
Hereditary diffuse leukoencephalopathy with spheroids (HDLS) with a novel CSF1R mutation and spinal cord involvement. ( 26476772 )
2015
13
Hereditary diffuse leukoencephalopathy with spheroids characterized by spastic hemiplegia preceding mental impairment. ( 24930661 )
2014
14
Early pathologic changes in hereditary diffuse leukoencephalopathy with spheroids. ( 25383640 )
2014
15
[Hereditary diffuse leukoencephalopathy with spheroids (HDLS): a review of the literature on its clinical characteristics and mutations in the colony-stimulating factor-1 receptor gene]. ( 24807373 )
2014
16
Haploinsufficiency of CSF-1R and clinicopathologic characterization in patients with HDLS. ( 24336230 )
2014
17
Early involvement of the corpus callosum in a patient with hereditary diffuse leukoencephalopathy with spheroids carrying the de novo K793T mutation of CSF1R. ( 23411710 )
2013
18
Parkinsonian features in hereditary diffuse leukoencephalopathy with spheroids (HDLS) and CSF1R mutations. ( 23787135 )
2013
19
Increasing and persistent DWI changes in a patient with hereditary diffuse leukoencephalopathy with spheroids. ( 24094860 )
2013
20
M-CSF receptor mutations in hereditary diffuse leukoencephalopathy with spheroids impair not only kinase activity but also surface expression. ( 24120500 )
2013
21
CSF1R mutations in hereditary diffuse leukoencephalopathy with spheroids are loss of function. ( 24145216 )
2013
22
CSF1R mutations link POLD and HDLS as a single disease entity. ( 23408870 )
2013
23
Mutations in the colony stimulating factor 1 receptor (CSF1R) gene cause hereditary diffuse leukoencephalopathy with spheroids. ( 22197934 )
2011
24
Hereditary diffuse leukoencephalopathy with spheroids: ultrastructural and immunoelectron microscopic studies. ( 20830237 )
2010
25
Autosomal dominant subcortical gliosis presenting as frontotemporal dementia. ( 19153373 )
2009
26
Hereditary diffuse leukoencephalopathy with spheroids: clinical, pathologic and genetic studies of a new kindred. ( 16523341 )
2006
27
An autopsy case of hereditary diffuse leukoencephalopathy with spheroids, clinically suspected of Alzheimer's disease. ( 15365727 )
2004
28
Progressive familial leukodystrophy of late onset. ( 8614507 )
1996

Variations for Leukoencephalopathy, Hereditary Diffuse, with Spheroids

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

76 (show all 14)
# 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

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

6 (show top 50) (show all 272)
# Gene Variation Type Significance SNP ID Assembly Location
1 CSF1R NM_005211.3(CSF1R): c.2624T> C (p.Met875Thr) single nucleotide variant Pathogenic rs281860279 GRCh37 Chromosome 5, 149434830: 149434830
2 CSF1R NM_005211.3(CSF1R): c.2624T> C (p.Met875Thr) single nucleotide variant Pathogenic rs281860279 GRCh38 Chromosome 5, 150055267: 150055267
3 CSF1R NM_005211.3(CSF1R): c.1897G> A (p.Glu633Lys) single nucleotide variant Pathogenic rs281860269 GRCh37 Chromosome 5, 149440497: 149440497
4 CSF1R NM_005211.3(CSF1R): c.1897G> A (p.Glu633Lys) single nucleotide variant Pathogenic rs281860269 GRCh38 Chromosome 5, 150060934: 150060934
5 CSF1R NM_005211.3(CSF1R): c.1754-2A> G single nucleotide variant Pathogenic rs281860267 GRCh37 Chromosome 5, 149441160: 149441160
6 CSF1R NM_005211.3(CSF1R): c.1754-2A> G single nucleotide variant Pathogenic rs281860267 GRCh38 Chromosome 5, 150061597: 150061597
7 CSF1R NM_005211.3(CSF1R): c.2381T> C (p.Ile794Thr) single nucleotide variant Pathogenic rs281860274 GRCh37 Chromosome 5, 149435843: 149435843
8 CSF1R NM_005211.3(CSF1R): c.2381T> C (p.Ile794Thr) single nucleotide variant Pathogenic rs281860274 GRCh38 Chromosome 5, 150056280: 150056280
9 CSF1R NM_005211.3(CSF1R): c.2509G> T (p.Asp837Tyr) single nucleotide variant Pathogenic rs387906662 GRCh37 Chromosome 5, 149435634: 149435634
10 CSF1R NM_005211.3(CSF1R): c.2509G> T (p.Asp837Tyr) single nucleotide variant Pathogenic rs387906662 GRCh38 Chromosome 5, 150056071: 150056071
11 CSF1R NM_005211.3(CSF1R): c.1766G> A (p.Gly589Glu) single nucleotide variant Pathogenic rs281860268 GRCh37 Chromosome 5, 149441146: 149441146
12 CSF1R NM_005211.3(CSF1R): c.1766G> A (p.Gly589Glu) single nucleotide variant Pathogenic rs281860268 GRCh38 Chromosome 5, 150061583: 150061583
13 CSF1R NM_005211.3(CSF1R): c.2297T> C (p.Met766Thr) single nucleotide variant Pathogenic rs281860270 GRCh37 Chromosome 5, 149436872: 149436872
14 CSF1R NM_005211.3(CSF1R): c.2297T> C (p.Met766Thr) single nucleotide variant Pathogenic rs281860270 GRCh38 Chromosome 5, 150057309: 150057309
15 CSF1R NM_005211.3(CSF1R): c.2308G> C (p.Ala770Pro) single nucleotide variant Pathogenic rs281860271 GRCh37 Chromosome 5, 149436861: 149436861
16 CSF1R NM_005211.3(CSF1R): c.2308G> C (p.Ala770Pro) single nucleotide variant Pathogenic rs281860271 GRCh38 Chromosome 5, 150057298: 150057298
17 CSF1R NM_005211.3(CSF1R): c.2320-2A> G single nucleotide variant Pathogenic rs281860272 GRCh37 Chromosome 5, 149435906: 149435906
18 CSF1R NM_005211.3(CSF1R): c.2320-2A> G single nucleotide variant Pathogenic rs281860272 GRCh38 Chromosome 5, 150056343: 150056343
19 CSF1R NM_005211.3(CSF1R): c.2324T> A (p.Ile775Asn) single nucleotide variant Pathogenic rs281860273 GRCh37 Chromosome 5, 149435900: 149435900
20 CSF1R NM_005211.3(CSF1R): c.2324T> A (p.Ile775Asn) single nucleotide variant Pathogenic rs281860273 GRCh38 Chromosome 5, 150056337: 150056337
21 CSF1R NM_005211.3(CSF1R): c.2345G> A (p.Arg782His) single nucleotide variant Pathogenic rs281860281 GRCh37 Chromosome 5, 149435879: 149435879
22 CSF1R NM_005211.3(CSF1R): c.2345G> A (p.Arg782His) single nucleotide variant Pathogenic rs281860281 GRCh38 Chromosome 5, 150056316: 150056316
23 CSF1R NM_005211.3(CSF1R): c.2442+5G> C single nucleotide variant Pathogenic rs281860275 GRCh37 Chromosome 5, 149435777: 149435777
24 CSF1R NM_005211.3(CSF1R): c.2442+5G> C single nucleotide variant Pathogenic rs281860275 GRCh38 Chromosome 5, 150056214: 150056214
25 CSF1R NM_005211.3(CSF1R): c.2546T> C (p.Phe849Ser) single nucleotide variant Pathogenic rs281860277 GRCh37 Chromosome 5, 149435597: 149435597
26 CSF1R NM_005211.3(CSF1R): c.2546T> C (p.Phe849Ser) single nucleotide variant Pathogenic rs281860277 GRCh38 Chromosome 5, 150056034: 150056034
27 CSF1R NM_005211.3(CSF1R): c.2546_2548delTCT (p.Phe849del) deletion Pathogenic rs281860276 GRCh37 Chromosome 5, 149435595: 149435597
28 CSF1R NM_005211.3(CSF1R): c.2546_2548delTCT (p.Phe849del) deletion Pathogenic rs281860276 GRCh38 Chromosome 5, 150056032: 150056034
29 CSF1R NM_005211.3(CSF1R): c.2603T> C (p.Leu868Pro) single nucleotide variant Pathogenic rs281860278 GRCh37 Chromosome 5, 149434851: 149434851
30 CSF1R NM_005211.3(CSF1R): c.2603T> C (p.Leu868Pro) single nucleotide variant Pathogenic rs281860278 GRCh38 Chromosome 5, 150055288: 150055288
31 CSF1R NM_005211.3(CSF1R): c.2632C> A (p.Pro878Thr) single nucleotide variant Pathogenic rs281860280 GRCh37 Chromosome 5, 149434822: 149434822
32 CSF1R NM_005211.3(CSF1R): c.2632C> A (p.Pro878Thr) single nucleotide variant Pathogenic rs281860280 GRCh38 Chromosome 5, 150055259: 150055259
33 CSF1R NM_005211.3(CSF1R): c.1958G> A (p.Cys653Tyr) single nucleotide variant Pathogenic rs397515555 GRCh37 Chromosome 5, 149440436: 149440436
34 CSF1R NM_005211.3(CSF1R): c.1958G> A (p.Cys653Tyr) single nucleotide variant Pathogenic rs397515555 GRCh38 Chromosome 5, 150060873: 150060873
35 CSF1R NM_005211.3(CSF1R): c.2329C> T (p.Arg777Trp) single nucleotide variant Pathogenic rs397515556 GRCh37 Chromosome 5, 149435895: 149435895
36 CSF1R NM_005211.3(CSF1R): c.2329C> T (p.Arg777Trp) single nucleotide variant Pathogenic rs397515556 GRCh38 Chromosome 5, 150056332: 150056332
37 CSF1R NM_005211.3(CSF1R): c.2483T> C (p.Phe828Ser) single nucleotide variant Pathogenic rs397515557 GRCh37 Chromosome 5, 149435660: 149435660
38 CSF1R NM_005211.3(CSF1R): c.2483T> C (p.Phe828Ser) single nucleotide variant Pathogenic rs397515557 GRCh38 Chromosome 5, 150056097: 150056097
39 CSF1R NM_005211.3(CSF1R): c.2060_2061insT (p.Ser688Glufs) insertion Pathogenic rs587777245 GRCh38 Chromosome 5, 150059772: 150059772
40 CSF1R NM_005211.3(CSF1R): c.2060_2061insT (p.Ser688Glufs) insertion Pathogenic rs587777245 GRCh37 Chromosome 5, 149439335: 149439335
41 CSF1R NM_005211.3(CSF1R): c.2442+1G> T single nucleotide variant Pathogenic rs587777246 GRCh38 Chromosome 5, 150056218: 150056218
42 CSF1R NM_005211.3(CSF1R): c.2442+1G> T single nucleotide variant Pathogenic rs587777246 GRCh37 Chromosome 5, 149435781: 149435781
43 CSF1R NM_005211.3(CSF1R): c.2342C> A (p.Ala781Glu) single nucleotide variant Pathogenic rs587777247 GRCh38 Chromosome 5, 150056319: 150056319
44 CSF1R NM_005211.3(CSF1R): c.2342C> A (p.Ala781Glu) single nucleotide variant Pathogenic rs587777247 GRCh37 Chromosome 5, 149435882: 149435882
45 CSF1R NM_005211.3(CSF1R): c.2717T> C (p.Ile906Thr) single nucleotide variant Pathogenic rs690016560 GRCh38 Chromosome 5, 150054368: 150054368
46 CSF1R NM_005211.3(CSF1R): c.2717T> C (p.Ile906Thr) single nucleotide variant Pathogenic rs690016560 GRCh37 Chromosome 5, 149433931: 149433931
47 CSF1R NM_005211.3(CSF1R): c.2701C> T (p.Pro901Ser) single nucleotide variant Pathogenic rs690016553 GRCh38 Chromosome 5, 150054384: 150054384
48 CSF1R NM_005211.3(CSF1R): c.2701C> T (p.Pro901Ser) single nucleotide variant Pathogenic rs690016553 GRCh37 Chromosome 5, 149433947: 149433947
49 CSF1R NM_005211.3(CSF1R): c.2655-2A> G single nucleotide variant Pathogenic rs690016554 GRCh38 Chromosome 5, 150054432: 150054432
50 CSF1R NM_005211.3(CSF1R): c.2655-2A> G single nucleotide variant Pathogenic rs690016554 GRCh37 Chromosome 5, 149433995: 149433995

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

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

# Super pathways Score Top Affiliating Genes
1 11.86 APP GFAP MAP2 MAPT PRNP RPS27A
2 11.23 GFAP MAP2 SLC1A3
3 10.86 APP MAPT PRNP
4 10.74 APP PRNP
5 10.37 MAP2 MAPT

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 17)
# Name GO ID Score Top Affiliating Genes
1 neuron projection GO:0043005 9.8 APP MAP2 MAPT SLC1A3
2 dendritic spine GO:0043197 9.72 APP CRYAB MAPT
3 growth cone GO:0030426 9.65 APP MAPT SNCA
4 neuronal cell body GO:0043025 9.65 MAP2 MAPT SCN1A SLC1A3 SNCA
5 cell surface GO:0009986 9.63 APP CRYAB CSF1R PRNP SLC1A2 SLC1A3
6 dendritic shaft GO:0043198 9.56 APP MAP2
7 inclusion body GO:0016234 9.54 PRNP SNCA
8 nuclear periphery GO:0034399 9.52 MAP2 MAPT
9 axon initial segment GO:0043194 9.51 MAP2 SCN1A
10 cell body GO:0044297 9.5 GFAP MAP2 MAPT
11 axolemma GO:0030673 9.46 MAPT SLC1A2
12 axon GO:0030424 9.43 APP CRYAB MAPT SCN1A SLC1A2 SNCA
13 astrocyte projection GO:0097449 9.4 APP GFAP
14 glial cell projection GO:0097386 9.37 GFAP MAPT
15 main axon GO:0044304 8.8 APP MAP2 MAPT
16 cytoplasm GO:0005737 10.22 AARS2 APP CRYAB GFAP MAP2 MAPT
17 plasma membrane GO:0005886 10.13 APP CRYAB CSF1R MAPT PRNP RPS27A

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

(show all 34)
# Name GO ID Score Top Affiliating Genes
1 transmembrane transport GO:0055085 9.96 RPS27A SCN1A SLC1A2 SLC1A3
2 negative regulation of apoptotic process GO:0043066 9.8 CRYAB CSF1R PRNP RPS27A SNCA
3 neuron projection development GO:0031175 9.79 APP MAP2 MAPT
4 cellular response to nerve growth factor stimulus GO:1990090 9.66 APP MAPT
5 dendrite development GO:0016358 9.65 APP MAP2
6 cellular response to amyloid-beta GO:1904646 9.65 APP PRNP
7 regulation of presynapse assembly GO:1905606 9.65 APP SNCA
8 response to light stimulus GO:0009416 9.64 SLC1A2 SLC1A3
9 stress-activated MAPK cascade GO:0051403 9.64 CRYAB RPS27A
10 positive regulation of synaptic transmission GO:0050806 9.63 SLC1A3 SNCA
11 regulation of long-term neuronal synaptic plasticity GO:0048169 9.63 APP SNCA
12 response to lead ion GO:0010288 9.62 APP MAPT
13 microglial cell activation GO:0001774 9.62 MAPT SNCA
14 multicellular organism aging GO:0010259 9.61 CRYAB SLC1A2
15 response to wounding GO:0009611 9.61 GFAP SLC1A2 SLC1A3
16 regulation of peptidyl-tyrosine phosphorylation GO:0050730 9.6 APP PRNP
17 glutamate secretion GO:0014047 9.59 SLC1A2 SLC1A3
18 axon development GO:0061564 9.58 GFAP MAPT
19 L-glutamate transmembrane transport GO:0015813 9.58 SLC1A2 SLC1A3
20 cellular copper ion homeostasis GO:0006878 9.57 APP PRNP
21 central nervous system neuron development GO:0021954 9.56 MAP2 MAPT
22 supramolecular fiber organization GO:0097435 9.55 MAPT SNCA
23 negative regulation of microtubule polymerization GO:0031115 9.54 MAP2 SNCA
24 astrocyte activation GO:0048143 9.52 APP MAPT
25 negative regulation of long-term synaptic potentiation GO:1900272 9.51 APP PRNP
26 neuron projection maintenance GO:1990535 9.49 APP PRNP
27 regulation of microtubule polymerization GO:0031113 9.48 MAP2 MAPT
28 amyloid fibril formation GO:1990000 9.46 APP MAPT
29 modulation of age-related behavioral decline GO:0090647 9.37 APP PRNP
30 synapse organization GO:0050808 9.33 APP MAPT SNCA
31 L-glutamate import across plasma membrane GO:0098712 9.32 SLC1A2 SLC1A3
32 D-aspartate import across plasma membrane GO:0070779 9.26 SLC1A2 SLC1A3
33 positive regulation of neuron death GO:1901216 9.13 MAPT PRNP SNCA
34 cellular response to copper ion GO:0071280 8.8 APP PRNP SNCA

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

# Name GO ID Score Top Affiliating Genes
1 identical protein binding GO:0042802 9.85 APP CRYAB GFAP MAPT PRNP SNCA
2 amino acid binding GO:0016597 9.43 AARS2 SLC1A3
3 tubulin binding GO:0015631 9.43 MAP2 MAPT PRNP
4 L-glutamate transmembrane transporter activity GO:0005313 9.4 SLC1A2 SLC1A3
5 cuprous ion binding GO:1903136 9.32 PRNP SNCA
6 high-affinity glutamate transmembrane transporter activity GO:0005314 9.16 SLC1A2 SLC1A3
7 microtubule binding GO:0008017 9.02 CRYAB MAP2 MAPT PRNP SNCA
8 glutamate:sodium symporter activity GO:0015501 8.96 SLC1A2 SLC1A3
9 metal ion binding GO:0046872 10.06 AARS2 APP CRYAB PRNP RPS27A SLC1A2

Sources for Leukoencephalopathy, Hereditary Diffuse, with Spheroids

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
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63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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