HDLS
MCID: LKN025
MIFTS: 55

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 53 59 37 29 6 73
Hdls 57 53 59 75
Alsp 57 25 59 75
Adult-Onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia 53 25 59
Autosomal Dominant Leukoencephalopathy with Neuroaxonal Spheroids 53 59 75
Leukoencephalopathy, Diffuse Hereditary, with Spheroids 57 53 75
Subcortical Gliosis of Neumann 57 59 75
Gpsc 57 59 75
Hereditary Diffuse Leukoencephalopathy with Axonal Spheroids and Pigmented Glia 25 59
Leukoencephalopathy, Adult-Onset, with Axonal Spheroids and Pigmented Glia 57 75
Gliosis, Familial Progressive Subcortical 57 13
Pigmentary Orthochromatic Leukodystrophy 53 59
Familial Progressive Subcortical Gliosis 59 75
Gliosis 44 73
Pold 53 59
Leukoencephalopathy, Adult-Onset, with Axonal Spheroids and Pigmented Glia; Alsp 57
Leukoencephalopathy with Neuroaxonal Spheroids, Autosomal Dominant 57
Hereditary Diffuse Leukoencephalopathy with Axonal Spheroids 53
Leukoencephalopathy, Diffuse Hereditary, with Spheroid 40
Adult-Onset Leukodystrophy with Neuroaxonal Spheroids 53
Gliosis, Familial Progressive Subcortical; Gpsc 57
Dementia, Familial, Neumann Type 57
Familial Dementia, Neumann Type 59
Familial Dementia Neumann Type 75
Neuroaxonal Leukodystrophy 53
Fpsg 59

Characteristics:

Orphanet epidemiological data:

59
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
Inheritance:
autosomal dominant

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


HPO:

32
leukoencephalopathy, hereditary diffuse, with spheroids:
Onset and clinical course adult onset rapidly progressive
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 59  
Rare neurological diseases


Summaries for Leukoencephalopathy, Hereditary Diffuse, with Spheroids

Genetics Home Reference : 25 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 supranuclear palsy, progressive, 1 and creutzfeldt-jakob disease, 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 Alzheimers Disease Pathway. Affiliated tissues include brain, parietal lobe and kidney, and related phenotypes are depressivity and spasticity

NIH Rare Diseases : 53 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)

UniProtKB/Swiss-Prot : 75 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.

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 331)
# Related Disease Score Top Affiliating Genes
1 supranuclear palsy, progressive, 1 31.5 APP MAPT RPS27A SNCA
2 creutzfeldt-jakob disease 31.3 CRYAB MAPT PRNP
3 pick disease of brain 31.2 APP CRYAB MAPT RPS27A SNCA
4 scrapie 29.8 APP GFAP PRNP
5 hydrocephalus 29.7 APP GFAP MAPT
6 frontotemporal dementia 29.6 APP CRYAB MAPT PRNP RPS27A SNCA
7 prion disease 29.5 APP MAPT PRNP
8 cerebral amyloid angiopathy, cst3-related 29.5 APP MAPT PRNP
9 dementia 29.5 APP MAPT PRNP SNCA
10 alexander disease 29.5 CRYAB GFAP
11 synucleinopathy 29.5 APP MAPT SNCA
12 brain injury 29.4 GFAP MAPT
13 alzheimer disease 29.0 APP GFAP MAPT PRNP SLC1A2 SNCA
14 amyotrophic lateral sclerosis 1 28.4 APP CRYAB GFAP MAPT PRNP RPS27A
15 hypoalphalipoproteinemia, primary 12.3
16 tangier disease 12.2
17 hepatic lipase deficiency 11.6
18 hyperalphalipoproteinemia 1 11.4
19 hyperlipidemia, familial combined 11.3
20 fish-eye disease 11.2
21 lecithin:cholesterol acyltransferase deficiency 11.2
22 huntington disease-like syndrome 11.2
23 symmetrical thalamic calcifications 11.1
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 10.9
31 vitreoretinochoroidopathy 10.9
32 pontocerebellar hypoplasia, type 4 10.9
33 leigh syndrome 10.9
34 dystonia 3, torsion, x-linked 10.9
35 cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 10.9
36 pontocerebellar hypoplasia, type 1a 10.9
37 frontotemporal dementia and/or amyotrophic lateral sclerosis 2 10.9
38 frontotemporal dementia and/or amyotrophic lateral sclerosis 3 10.9
39 frontotemporal dementia and/or amyotrophic lateral sclerosis 4 10.9
40 aids dementia complex 10.9
41 superficial siderosis 10.9
42 hyperlipoproteinemia, type v 10.9
43 abdominal obesity-metabolic syndrome 1 10.9
44 high density lipoprotein cholesterol level quantitative trait locus 1 10.9
45 lipodystrophy, familial partial, type 6 10.9
46 hyperlipoproteinemia, type iii 10.9
47 prediabetes syndrome 10.9
48 heart disease 10.6
49 arteries, anomalies of 10.5
50 coronary heart disease 1 10.5

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

Symptoms via clinical synopsis from OMIM:

57
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

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

32 (show all 16)
# Description HPO Frequency HPO Source Accession
1 depressivity 32 HP:0000716
2 spasticity 32 HP:0001257
3 hyperreflexia 32 HP:0001347
4 memory impairment 32 HP:0002354
5 rigidity 32 HP:0002063
6 apraxia 32 HP:0002186
7 bradykinesia 32 HP:0002067
8 shuffling gait 32 HP:0002362
9 postural instability 32 HP:0002172
10 neuronal loss in central nervous system 32 HP:0002529
11 gliosis 32 HP:0002171
12 mutism 32 HP:0002300
13 abnormality of the cerebral white matter 32 HP:0002500
14 frontal lobe dementia 32 HP:0000727
15 cns demyelination 32 HP:0007305
16 leukoencephalopathy 32 HP:0002352

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:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.03 APP CRYAB CSF1R GFAP MAPT PRNP
2 cellular MP:0005384 10.01 APP CRYAB CSF1R GFAP MAPT PRNP
3 mortality/aging MP:0010768 9.97 AARS2 APP CSF1R GFAP MAPT PRNP
4 nervous system MP:0003631 9.8 APP CSF1R GFAP MAPT PRNP SLC1A2
5 muscle MP:0005369 9.72 APP CRYAB GFAP MAPT PRNP
6 no phenotypic analysis MP:0003012 9.55 APP CSF1R MAPT PRNP SNCA
7 normal MP:0002873 9.5 APP CSF1R GFAP MAPT PRNP SLC1A2
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 29 CSF1R

Anatomical Context for Leukoencephalopathy, Hereditary Diffuse, with Spheroids

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

41
Brain, Parietal Lobe, Kidney, Liver, Heart, Eye, T Cells

Publications for Leukoencephalopathy, Hereditary Diffuse, with Spheroids

Articles related to Leukoencephalopathy, Hereditary Diffuse, with Spheroids:

(show all 24)
# Title Authors Year
1
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
2
Mirror movements and blepharoclonus as novel phenomena in hereditary diffuse leukoencephalopathy with spheroids. ( 29983329 )
2018
3
MR Spectroscopy in Patients with Hereditary Diffuse Leukoencephalopathy with Spheroids and Asymptomatic Carriers of Colony-stimulating Factor 1 Receptor Mutation. ( 28025469 )
2017
4
Suspected Perinatal Depression Revealed to be Hereditary Diffuse Leukoencephalopathy with Spheroids. ( 28122429 )
2017
5
CSF1R mosaicism in a family with hereditary diffuse leukoencephalopathy with spheroids. ( 27190017 )
2016
6
Hereditary diffuse leukoencephalopathy with spheroids - a volumetric and radiological comparison with multiple sclerosis patients and healthy controls. ( 26756564 )
2016
7
A family with hereditary diffuse leukoencephalopathy with spheroids caused by a novel c.2442+2T>C mutation in the CSF1R gene. ( 27423618 )
2016
8
Characteristic microglial features in patients with hereditary diffuse leukoencephalopathy with spheroids. ( 27490250 )
2016
9
Common neuropathological features underlie distinct clinical presentations in three siblings with hereditary diffuse leukoencephalopathy with spheroids caused by CSF1R p.Arg782His. ( 26141825 )
2015
10
Hereditary diffuse leukoencephalopathy with spheroids (HDLS) with a novel CSF1R mutation and spinal cord involvement. ( 26476772 )
2015
11
Hereditary diffuse leukoencephalopathy with spheroids characterized by spastic hemiplegia preceding mental impairment. ( 24930661 )
2014
12
Hereditary diffuse leukoencephalopathy with spheroids with phenotype of primary progressive multiple sclerosis. ( 25311247 )
2014
13
[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
14
Early pathologic changes in hereditary diffuse leukoencephalopathy with spheroids. ( 25383640 )
2014
15
Parkinsonian features in hereditary diffuse leukoencephalopathy with spheroids (HDLS) and CSF1R mutations. ( 23787135 )
2013
16
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
17
Increasing and persistent DWI changes in a patient with hereditary diffuse leukoencephalopathy with spheroids. ( 24094860 )
2013
18
CSF1R mutations in hereditary diffuse leukoencephalopathy with spheroids are loss of function. ( 24145216 )
2013
19
M-CSF receptor mutations in hereditary diffuse leukoencephalopathy with spheroids impair not only kinase activity but also surface expression. ( 24120500 )
2013
20
Mutations in the colony stimulating factor 1 receptor (CSF1R) gene cause hereditary diffuse leukoencephalopathy with spheroids. ( 22197934 )
2012
21
Hereditary diffuse leukoencephalopathy with spheroids: ultrastructural and immunoelectron microscopic studies. ( 20830237 )
2010
22
Hereditary diffuse leukoencephalopathy with spheroids: clinical, pathologic and genetic studies of a new kindred. ( 16523341 )
2006
23
An autopsy case of hereditary diffuse leukoencephalopathy with spheroids, clinically suspected of Alzheimer's disease. ( 15365727 )
2004
24
CSF1R-Related Hereditary Diffuse Leukoencephalopathy with Spheroids ( 22934315 )
1993

Variations for Leukoencephalopathy, Hereditary Diffuse, with Spheroids

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

75 (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 268)
# 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 11.7 APP GFAP MAPT PRNP RPS27A SLC1A2
2 10.91 APP MAPT
3 10.86 APP MAPT PRNP
4 10.57 APP PRNP

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 membrane raft GO:0045121 9.69 APP MAPT PRNP
2 dendritic spine GO:0043197 9.61 APP CRYAB MAPT
3 growth cone GO:0030426 9.58 APP MAPT SNCA
4 inclusion body GO:0016234 9.46 PRNP SNCA
5 axolemma GO:0030673 9.37 MAPT SLC1A2
6 cell surface GO:0009986 9.35 APP CRYAB CSF1R PRNP SLC1A2
7 astrocyte projection GO:0097449 9.32 APP GFAP
8 glial cell projection GO:0097386 9.26 GFAP MAPT
9 main axon GO:0044304 9.16 APP MAPT
10 axon GO:0030424 9.02 APP CRYAB MAPT SLC1A2 SNCA
11 cytoplasm GO:0005737 10.13 AARS2 APP CRYAB CSF1R GFAP MAPT
12 plasma membrane GO:0005886 10.1 APP CRYAB CSF1R MAPT PRNP RPS27A

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

(show all 28)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of gene expression GO:0010629 9.79 APP CRYAB MAPT
2 cellular protein metabolic process GO:0044267 9.77 APP RPS27A SNCA
3 negative regulation of apoptotic process GO:0043066 9.65 CRYAB CSF1R PRNP RPS27A SNCA
4 positive regulation of protein serine/threonine kinase activity GO:0071902 9.64 CSF1R SNCA
5 long-term synaptic potentiation GO:0060291 9.63 GFAP SNCA
6 protein destabilization GO:0031648 9.63 PRNP SNCA
7 regulation of cellular response to heat GO:1900034 9.62 CRYAB MAPT
8 positive regulation of protein tyrosine kinase activity GO:0061098 9.61 CSF1R PRNP
9 cellular response to nerve growth factor stimulus GO:1990090 9.61 APP MAPT
10 cellular response to amyloid-beta GO:1904646 9.59 APP PRNP
11 regulation of presynapse assembly GO:1905606 9.58 APP SNCA
12 stress-activated MAPK cascade GO:0051403 9.58 CRYAB RPS27A
13 regulation of long-term neuronal synaptic plasticity GO:0048169 9.57 APP SNCA
14 response to lead ion GO:0010288 9.56 APP MAPT
15 microglial cell activation GO:0001774 9.55 MAPT SNCA
16 multicellular organism aging GO:0010259 9.54 CRYAB SLC1A2
17 regulation of peptidyl-tyrosine phosphorylation GO:0050730 9.52 APP PRNP
18 axon development GO:0061564 9.51 GFAP MAPT
19 cellular copper ion homeostasis GO:0006878 9.49 APP PRNP
20 supramolecular fiber organization GO:0097435 9.48 MAPT SNCA
21 astrocyte activation GO:0048143 9.46 APP MAPT
22 negative regulation of long-term synaptic potentiation GO:1900272 9.43 APP PRNP
23 neuron projection maintenance GO:1990535 9.4 APP PRNP
24 amyloid fibril formation GO:1990000 9.37 APP MAPT
25 synapse organization GO:0050808 9.33 APP MAPT SNCA
26 modulation of age-related behavioral decline GO:0090647 9.32 APP PRNP
27 positive regulation of neuron death GO:1901216 9.13 MAPT PRNP SNCA
28 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 metal ion binding GO:0046872 9.8 AARS2 APP CRYAB PRNP RPS27A SLC1A2
2 microtubule binding GO:0008017 9.26 CRYAB MAPT PRNP SNCA
3 cuprous ion binding GO:1903136 9.16 PRNP SNCA
4 identical protein binding GO:0042802 9.1 APP CRYAB GFAP MAPT PRNP SNCA

Sources for Leukoencephalopathy, Hereditary Diffuse, with Spheroids

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....