HDLS
MCID: LKN019
MIFTS: 49

Leukoencephalopathy, Diffuse Hereditary, with Spheroids (HDLS) malady

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

Aliases & Classifications for Leukoencephalopathy, Diffuse Hereditary, with Spheroids

Aliases & Descriptions for Leukoencephalopathy, Diffuse Hereditary, with Spheroids:

Name: Leukoencephalopathy, Diffuse Hereditary, with Spheroids 54 50 66
Hereditary Diffuse Leukoencephalopathy with Spheroids 50 56 29 69
Autosomal Dominant Leukoencephalopathy with Neuroaxonal Spheroids 50 56 66
Hdls 50 56 66
Adult-Onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia 50 56
Pigmentary Orthochromatic Leukodystrophy 50 56
Familial Progressive Subcortical Gliosis 56 66
Subcortical Gliosis of Neumann 56 66
Gliosis 42 69
Alsp 56 66
Pold 50 56
Gpsc 56 66
Hereditary Diffuse Leukoencephalopathy with Axonal Spheroids and Pigmented Glia 56
Leukoencephalopathy, Adult-Onset, with Axonal Spheroids and Pigmented Glia 66
Hereditary Diffuse Leukoencephalopathy with Axonal Spheroids 50
Adult-Onset Leukodystrophy with Neuroaxonal Spheroids 50
Gliosis, Familial Progressive Subcortical 13
Familial Dementia, Neumann Type 56
Familial Dementia Neumann Type 66
Neuroaxonal Leukodystrophy 50
Fpsg 56

Characteristics:

Orphanet epidemiological data:

56
hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult; Age of death: adult;

HPO:

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


Classifications:

Orphanet: 56  
Rare neurological diseases


External Ids:

OMIM 54 221820
Orphanet 56 ORPHA313808
ICD10 via Orphanet 34 E75.2

Summaries for Leukoencephalopathy, Diffuse Hereditary, with Spheroids

NIH Rare Diseases : 50 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. last updated: 3/27/2013

MalaCards based summary : Leukoencephalopathy, Diffuse Hereditary, with Spheroids, also known as hereditary diffuse leukoencephalopathy with spheroids, is related to adult-onset leukoencephalopathy with axonal spheroids and pigmented glia and csf1r-related hereditary diffuse leukoencephalopathy with spheroids, and has symptoms including bradykinesia, depression and spasticity. An important gene associated with Leukoencephalopathy, Diffuse Hereditary, with Spheroids is CSF1R (Colony Stimulating Factor 1 Receptor), and among its related pathways/superpathways are Neuroscience and Copper homeostasis. The drugs Ranibizumab and Bevacizumab have been mentioned in the context of this disorder. Affiliated tissues include brain and parietal lobe, and related phenotypes are behavior/neurological and cellular

OMIM : 54 Hereditary diffuse leukoencephalopathy with spheroids is an autosomal dominant adult-onset rapidly progressive... (221820) more...

UniProtKB/Swiss-Prot : 66 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 : 71 Hereditary diffuse leukoencephalopathy with spheroids (HDLS) is a rare adult onset autosomal dominant... more...

Related Diseases for Leukoencephalopathy, Diffuse Hereditary, with Spheroids

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

Csf1r-Related Hereditary Diffuse Leukoencephalopathy with Spheroids

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

(show top 50) (show all 101)
id Related Disease Score Top Affiliating Genes
1 adult-onset leukoencephalopathy with axonal spheroids and pigmented glia 12.9
2 csf1r-related hereditary diffuse leukoencephalopathy with spheroids 12.4
3 hypoalphalipoproteinemia 12.0
4 tangier disease 12.0
5 hyperalphalipoproteinemia 11.2
6 hepatic lipase deficiency 11.2
7 huntington disease-like syndrome 10.9
8 apolipoprotein c-iii deficiency 10.8
9 hypobetalipoproteinemia, familial, 2 10.8
10 analbuminemia 10.8
11 glutaricaciduria, type i 10.8
12 hyperchylomicronemia, late-onset 10.7
13 norum disease 10.7
14 hypobetalipoproteinemia 10.7
15 fish-eye disease 10.7
16 prediabetes syndrome 10.7
17 dystonia-parkinsonism, x-linked 10.7
18 frontotemporal dementia and/or amyotrophic lateral sclerosis 4 10.7
19 pick disease 10.7
20 pontocerebellar hypoplasia type 1a 10.7
21 leigh syndrome 10.7
22 supranuclear palsy, progressive 10.7
23 pontocerebellar hypoplasia type 4 10.7
24 creutzfeldt-jakob disease 10.7
25 superficial siderosis 10.7
26 frontotemporal dementia and/or amyotrophic lateral sclerosis 3 10.7
27 frontotemporal dementia and/or amyotrophic lateral sclerosis 2 10.7
28 frontotemporal dementia and/or amyotrophic lateral sclerosis 1 10.7
29 cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 10.7
30 leukodystrophy 10.4
31 hepatitis 10.4
32 atherosclerosis 10.4
33 heart disease 10.3
34 endotheliitis 10.3
35 artery disease 10.3
36 coronary artery disease 10.3
37 dementia 10.2
38 nasu-hakola disease 10.2
39 obesity 10.2
40 charcot-marie-tooth disease 10.2 GFAP PRNP
41 ovarian cancer 10.1 GFAP MAPT
42 scrotum basal cell carcinoma 10.1 MAPT PRNP
43 neuronitis 10.1
44 hypertriglyceridemia 10.1
45 narcolepsy 1 10.1 CRYAB GFAP
46 bone dysplasia azouz type 10.1 GFAP MAPT
47 gerstmann syndrome 10.1 CSF1R GFAP
48 hemangioblastoma 10.1 GFAP SNCA
49 cerebritis 10.1
50 brain oligodendroglioma 10.1 GFAP SNCA

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



Diseases related to Leukoencephalopathy, Diffuse Hereditary, with Spheroids

Symptoms & Phenotypes for Leukoencephalopathy, Diffuse Hereditary, with Spheroids

Symptoms by clinical synopsis from OMIM:

221820

Clinical features from OMIM:

221820

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

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

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


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

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

44
id Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.8 CRYAB CSF1R GFAP MAPT PRNP SNCA
2 cellular MP:0005384 9.73 CRYAB CSF1R GFAP MAPT PRNP SNCA
3 no phenotypic analysis MP:0003012 9.46 CSF1R MAPT PRNP SNCA
4 normal MP:0002873 9.35 CSF1R GFAP MAPT PRNP SNCA
5 taste/olfaction MP:0005394 8.8 MAPT SNCA CSF1R

Drugs & Therapeutics for Leukoencephalopathy, Diffuse Hereditary, with Spheroids

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

(show all 32)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ranibizumab Approved Phase 3 347396-82-1 459903
2
Bevacizumab Approved, Investigational Phase 3 216974-75-3
3 Angiogenesis Inhibitors Phase 3
4 Angiogenesis Modulating Agents Phase 3
5
Curcumin Phase 2 458-37-7 969516
6 Analgesics Phase 2
7 Analgesics, Non-Narcotic Phase 2
8 Turmeric extract Phase 2
9 Peripheral Nervous System Agents Phase 2,Early Phase 1
10 Anti-Inflammatory Agents Phase 2,Phase 1
11 Anti-Inflammatory Agents, Non-Steroidal Phase 2
12 Antirheumatic Agents Phase 2
13 Antioxidants Phase 2
14 Turmeric Nutraceutical Phase 2
15
Cyclophosphamide Approved, Investigational Phase 1 50-18-0, 6055-19-2 2907
16 Complement System Proteins Phase 1
17
Isocarboxazid Approved Early Phase 1 59-63-2 3759
18
Ethanol Approved Early Phase 1 64-17-5 702
19
Cocaine Approved, Illicit Early Phase 1 50-36-2 5760 446220
20
Capsaicin Approved Early Phase 1 404-86-4 1548943
21
Imidazole Early Phase 1 288-32-4 795
22
Idazoxan Early Phase 1 79944-56-2 54459
23 Adrenergic Agents Early Phase 1
24 Adrenergic Antagonists Early Phase 1
25 Adrenergic alpha-Antagonists Early Phase 1
26 Neurotransmitter Agents Early Phase 1
27 Antidepressive Agents Early Phase 1
28 Psychotropic Drugs Early Phase 1
29 Dermatologic Agents Early Phase 1
30 Pharmaceutical Solutions Early Phase 1
31 Antipruritics Early Phase 1
32
Indole Experimental, Nutraceutical Early Phase 1 120-72-9 798

Interventional clinical trials:


id Name Status NCT ID Phase
1 Bevacizumab Versus Ranibizumab for Diabetic Retinopathy Completed NCT00545870 Phase 3
2 Curcumin in Patients With Mild to Moderate Alzheimer's Disease Completed NCT00099710 Phase 2
3 Effects of an Anti-Inflammatory Drug in Alzheimer's Disease Completed NCT00013650 Phase 1
4 Observational Study - ILM Peeling Completed NCT01083056
5 I2PETHV - Imidazoline2 Binding Site in Healthy Volunteers Completed NCT02323217 Early Phase 1
6 7T MRS in Parkinson's Disease Recruiting NCT01237210
7 I2PETPG - Imidazoline2 Binding Sites in a Group of Participants Diagnosed With AD Recruiting NCT02874820 Early Phase 1
8 Respiratory Strength Training in Persons With Amyotrophic Lateral Sclerosis (ALS) Recruiting NCT02710110 Early Phase 1
9 Photographic Imaging of the Retina and Optic Nerve Head of Glaucoma Patients and Normal Controls Active, not recruiting NCT00430274

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

Cochrane evidence based reviews: gliosis

Genetic Tests for Leukoencephalopathy, Diffuse Hereditary, with Spheroids

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

id Genetic test Affiliating Genes
1 Hereditary Diffuse Leukoencephalopathy with Spheroids 29

Anatomical Context for Leukoencephalopathy, Diffuse Hereditary, with Spheroids

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

39
Brain, Parietal Lobe

Publications for Leukoencephalopathy, Diffuse Hereditary, with Spheroids

Variations for Leukoencephalopathy, Diffuse Hereditary, with Spheroids

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

66 (show all 14)
id 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, Diffuse Hereditary, with Spheroids:

6 (show all 44)
id 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.1897G> A (p.Glu633Lys) single nucleotide variant Pathogenic rs281860269 GRCh37 Chromosome 5, 149440497: 149440497
3 CSF1R NM_005211.3(CSF1R): c.1754-2A> G single nucleotide variant Pathogenic rs281860267 GRCh37 Chromosome 5, 149441160: 149441160
4 CSF1R NM_005211.3(CSF1R): c.2381T> C (p.Ile794Thr) single nucleotide variant Pathogenic rs281860274 GRCh37 Chromosome 5, 149435843: 149435843
5 CSF1R NM_005211.3(CSF1R): c.2509G> T (p.Asp837Tyr) single nucleotide variant Pathogenic rs387906662 GRCh37 Chromosome 5, 149435634: 149435634
6 CSF1R NM_005211.3(CSF1R): c.1766G> A (p.Gly589Glu) single nucleotide variant Pathogenic rs281860268 GRCh37 Chromosome 5, 149441146: 149441146
7 CSF1R NM_005211.3(CSF1R): c.2297T> C (p.Met766Thr) single nucleotide variant Pathogenic rs281860270 GRCh37 Chromosome 5, 149436872: 149436872
8 CSF1R NM_005211.3(CSF1R): c.2308G> C (p.Ala770Pro) single nucleotide variant Pathogenic rs281860271 GRCh37 Chromosome 5, 149436861: 149436861
9 CSF1R NM_005211.3(CSF1R): c.2320-2A> G single nucleotide variant Pathogenic rs281860272 GRCh37 Chromosome 5, 149435906: 149435906
10 CSF1R NM_005211.3(CSF1R): c.2324T> A (p.Ile775Asn) single nucleotide variant Pathogenic rs281860273 GRCh37 Chromosome 5, 149435900: 149435900
11 CSF1R NM_005211.3(CSF1R): c.2345G> A (p.Arg782His) single nucleotide variant Pathogenic rs281860281 GRCh37 Chromosome 5, 149435879: 149435879
12 CSF1R NM_005211.3(CSF1R): c.2442+5G> C single nucleotide variant Pathogenic rs281860275 GRCh37 Chromosome 5, 149435777: 149435777
13 CSF1R NM_005211.3(CSF1R): c.2546T> C (p.Phe849Ser) single nucleotide variant Pathogenic rs281860277 GRCh37 Chromosome 5, 149435597: 149435597
14 CSF1R NM_005211.3(CSF1R): c.2546_2548delTCT (p.Phe849del) deletion Pathogenic rs281860276 GRCh37 Chromosome 5, 149435595: 149435597
15 CSF1R NM_005211.3(CSF1R): c.2603T> C (p.Leu868Pro) single nucleotide variant Pathogenic rs281860278 GRCh37 Chromosome 5, 149434851: 149434851
16 CSF1R NM_005211.3(CSF1R): c.2632C> A (p.Pro878Thr) single nucleotide variant Pathogenic rs281860280 GRCh37 Chromosome 5, 149434822: 149434822
17 CSF1R NM_005211.3(CSF1R): c.1958G> A (p.Cys653Tyr) single nucleotide variant Pathogenic rs397515555 GRCh37 Chromosome 5, 149440436: 149440436
18 CSF1R NM_005211.3(CSF1R): c.2329C> T (p.Arg777Trp) single nucleotide variant Pathogenic rs397515556 GRCh37 Chromosome 5, 149435895: 149435895
19 CSF1R NM_005211.3(CSF1R): c.2483T> C (p.Phe828Ser) single nucleotide variant Pathogenic rs397515557 GRCh37 Chromosome 5, 149435660: 149435660
20 CSF1R NM_005211.3(CSF1R): c.2060dupT (p.Ser688Glufs) duplication Pathogenic rs587777245 GRCh38 Chromosome 5, 150059772: 150059772
21 CSF1R NM_005211.3(CSF1R): c.2442+1G> T single nucleotide variant Pathogenic rs587777246 GRCh38 Chromosome 5, 150056218: 150056218
22 CSF1R NM_005211.3(CSF1R): c.2342C> A (p.Ala781Glu) single nucleotide variant Pathogenic rs587777247 GRCh38 Chromosome 5, 150056319: 150056319
23 CSF1R NM_005211.3(CSF1R): c.2717T> C (p.Ile906Thr) single nucleotide variant Pathogenic rs690016560 GRCh38 Chromosome 5, 150054368: 150054368
24 CSF1R NM_005211.3(CSF1R): c.2701C> T (p.Pro901Ser) single nucleotide variant Pathogenic rs690016553 GRCh38 Chromosome 5, 150054384: 150054384
25 CSF1R NM_005211.3(CSF1R): c.2655-2A> G single nucleotide variant Pathogenic rs690016554 GRCh38 Chromosome 5, 150054432: 150054432
26 CSF1R NM_005211.3(CSF1R): c.2629C> T (p.Gln877Ter) single nucleotide variant Pathogenic rs690016556 GRCh38 Chromosome 5, 150055262: 150055262
27 CSF1R NM_005211.3(CSF1R): c.2566T> C (p.Tyr856His) single nucleotide variant Pathogenic rs690016552 GRCh38 Chromosome 5, 150055325: 150055325
28 CSF1R NM_005211.3(CSF1R): c.2562T> A (p.Asn854Lys) single nucleotide variant Pathogenic rs690016565 GRCh38 Chromosome 5, 150055329: 150055329
29 CSF1R NM_005211.3(CSF1R): c.2541G> C (p.Glu847Asp) single nucleotide variant Pathogenic rs690016551 GRCh38 Chromosome 5, 150056039: 150056039
30 CSF1R NM_005211.3(CSF1R): c.2528T> A (p.Ile843Asn) single nucleotide variant Pathogenic rs690016555 GRCh38 Chromosome 5, 150056052: 150056052
31 CSF1R NM_005211.3(CSF1R): c.2527A> T (p.Ile843Phe) single nucleotide variant Pathogenic rs690016558 GRCh38 Chromosome 5, 150056053: 150056053
32 CSF1R NM_005211.3(CSF1R): c.2512G> C (p.Val838Leu) single nucleotide variant Pathogenic rs690016557 GRCh38 Chromosome 5, 150056068: 150056068
33 CSF1R NM_005211.3(CSF1R): c.2480T> C (p.Ile827Thr) single nucleotide variant Pathogenic rs690016550 GRCh38 Chromosome 5, 150056100: 150056100
34 CSF1R NM_005211.3: c.2467C> T single nucleotide variant Pathogenic rs690016562 GRCh38 Chromosome 5, 150056112: 150056112
35 CSF1R NM_005211.3(CSF1R): c.2450T> C (p.Leu817Pro) single nucleotide variant Pathogenic rs690016549 GRCh38 Chromosome 5, 150056130: 150056130
36 CSF1R NM_005211.3(CSF1R): c.2378A> C (p.Lys793Thr) single nucleotide variant Pathogenic rs690016561 GRCh38 Chromosome 5, 150056283: 150056283
37 CSF1R NM_005211.3(CSF1R): c.2350G> A (p.Val784Met) single nucleotide variant Pathogenic rs690016564 GRCh38 Chromosome 5, 150056311: 150056311
38 CSF1R NM_005211.3(CSF1R): c.2342C> T (p.Ala781Val) single nucleotide variant Pathogenic rs587777247 GRCh38 Chromosome 5, 150056319: 150056319
39 CSF1R NM_005211.3(CSF1R): c.2330G> A (p.Arg777Gln) single nucleotide variant Pathogenic rs690016548 GRCh38 Chromosome 5, 150056331: 150056331
40 CSF1R NM_005211.3(CSF1R): c.2294G> A (p.Gly765Asp) single nucleotide variant Pathogenic rs690016566 GRCh38 Chromosome 5, 150057312: 150057312
41 CSF1R NM_005211.3(CSF1R): c.1957T> C (p.Cys653Arg) single nucleotide variant Pathogenic rs690016559 GRCh38 Chromosome 5, 150060874: 150060874
42 CSF1R NM_005211.3(CSF1R): c.1889T> G (p.Leu630Arg) single nucleotide variant Pathogenic rs690016547 GRCh38 Chromosome 5, 150060942: 150060942
43 CSF1R NM_005211.3(CSF1R): c.1745T> C (p.Leu582Pro) single nucleotide variant Pathogenic rs690016563 GRCh38 Chromosome 5, 150061731: 150061731
44 CSF1R NM_005211.3(CSF1R): c.1699delA (p.Thr567Argfs) deletion Pathogenic rs690016546 GRCh38 Chromosome 5, 150061777: 150061777

Expression for Leukoencephalopathy, Diffuse Hereditary, with Spheroids

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

Pathways for Leukoencephalopathy, Diffuse Hereditary, with Spheroids

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

id Super pathways Score Top Affiliating Genes
1 11.43 GFAP MAPT PRNP SNCA
2 10.69 MAPT PRNP

GO Terms for Leukoencephalopathy, Diffuse Hereditary, with Spheroids

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

id Name GO ID Score Top Affiliating Genes
1 postsynapse GO:0098794 9.16 PRNP SNCA
2 axon GO:0030424 9.13 CRYAB MAPT SNCA
3 inclusion body GO:0016234 8.62 PRNP SNCA

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

(show all 13)
id Name GO ID Score Top Affiliating Genes
1 activation of cysteine-type endopeptidase activity involved in apoptotic process GO:0006919 9.52 MAPT SNCA
2 regulation of cellular response to heat GO:1900034 9.51 CRYAB MAPT
3 negative regulation of protein phosphorylation GO:0001933 9.49 PRNP SNCA
4 negative regulation of cysteine-type endopeptidase activity involved in apoptotic process GO:0043154 9.48 CRYAB SNCA
5 synapse organization GO:0050808 9.46 MAPT SNCA
6 protein destabilization GO:0031648 9.43 PRNP SNCA
7 positive regulation of protein serine/threonine kinase activity GO:0071902 9.4 CSF1R SNCA
8 positive regulation of neuron death GO:1901216 9.37 MAPT PRNP
9 stress-activated MAPK cascade GO:0051403 9.32 CRYAB RPS27A
10 microglial cell activation GO:0001774 9.26 MAPT SNCA
11 supramolecular fiber organization GO:0097435 9.16 MAPT SNCA
12 negative regulation of apoptotic process GO:0043066 9.02 CRYAB CSF1R PRNP RPS27A SNCA
13 cellular response to copper ion GO:0071280 8.96 PRNP SNCA

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

id Name GO ID Score Top Affiliating Genes
1 identical protein binding GO:0042802 9.35 CRYAB GFAP MAPT PRNP SNCA
2 copper ion binding GO:0005507 9.32 PRNP SNCA
3 tubulin binding GO:0015631 9.26 MAPT PRNP
4 cuprous ion binding GO:1903136 9.16 PRNP SNCA
5 microtubule binding GO:0008017 8.92 CRYAB MAPT PRNP SNCA

Sources for Leukoencephalopathy, Diffuse Hereditary, with Spheroids

3 CDC
7 CNVD
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10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
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33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
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42 MeSH
43 MESH via Orphanet
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48 NDF-RT
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65 SNOMED-CT via Orphanet
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68 Tocris
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