MCID: LKN019
MIFTS: 37

Leukoencephalopathy, Diffuse Hereditary, with Spheroids malady

Genetic diseases, Rare diseases, Neuronal diseases, Mental diseases categories

Aliases & Classifications for Leukoencephalopathy, Diffuse Hereditary, with Spheroids

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

Name: Leukoencephalopathy, Diffuse Hereditary, with Spheroids 49 45 67
Autosomal Dominant Leukoencephalopathy with Neuroaxonal Spheroids 45 67
Hereditary Diffuse Leukoencephalopathy with Spheroids 45 65
Familial Progressive Subcortical Gliosis 24 67
Hdls 45 67
Adult-Onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia 45
Hereditary Diffuse Leukoencephalopathy with Axonal Spheroids 45
Adult-Onset Leukodystrophy with Neuroaxonal Spheroids 45
 
Diffuse Leukoencephalopathy with Spheroids 65
Gliosis, Familial Progressive Subcortical 11
Pigmentary Orthochromatic Leukodystrophy 45
Familial Dementia Neumann Type 67
Subcortical Gliosis of Neumann 67
Neuroaxonal Leukodystrophy 45
Pold 45
Gpsc 67


Classifications:



External Ids:

OMIM49 221820

Summaries for Leukoencephalopathy, Diffuse Hereditary, with Spheroids

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NIH Rare Diseases:45 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 autosomal dominant leukoencephalopathy with neuroaxonal spheroids, is related to leukodystrophy and atherosclerosis, and has symptoms including autosomal dominant inheritance, depression and frontal lobe dementia. An important gene associated with Leukoencephalopathy, Diffuse Hereditary, with Spheroids is CSF1R (Colony Stimulating Factor 1 Receptor). Affiliated tissues include brain and parietal lobe.

OMIM:49 Hereditary diffuse leukoencephalopathy with spheroids is an autosomal dominant adult-onset rapidly progressive... (221820) more...

UniProtKB/Swiss-Prot:67 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, Diffuse Hereditary, with Spheroids

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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 288)
idRelated DiseaseScoreTop Affiliating Genes
1leukodystrophy10.8
2atherosclerosis10.8
3hepatitis10.8
4coronary artery disease10.8
5artery disease10.7
6csf1r-related hereditary diffuse leukoencephalopathy with spheroids10.7
7endotheliitis10.7
8lipid metabolism disorder10.7
9dementia10.7
10obesity10.6
11ischemic heart disease10.6
12hypoalphalipoproteinemia10.6
13metabolic syndrome x10.6
14congenital heart disease10.6
15hypertriglyceridemia10.6
16peripheral vascular disease10.6
17arteriosclerosis10.6
18tangier disease10.6
19myocardial infarction10.5
20diabetes mellitus, noninsulin-dependent10.5
21vascular disease10.5
22familial hyperlipidemia10.5
23glucose metabolism disease10.4
24spastic hemiplegia10.4
25primary progressive multiple sclerosis10.4
26hemiplegia10.4
27adult-onset leukoencephalopathy with axonal spheroids and pigmented glia10.4
28spasticity10.4
29coronary heart disease 210.4
30coronary heart disease 310.4
31hyperinsulinism10.4
32c syndrome10.4
33coronary heart disease 410.4
34hyperalphalipoproteinemia10.4
35vitamin metabolic disorder10.4
36stroke, ischemic10.3
37mody, type ii10.3
38diabetes mellitus, noninsulin-dependent, 210.3
39plasma protein metabolism disease10.3
40adult syndrome10.3
41ischemia10.3
42blood protein disease10.2
43cerebrovascular disease10.2
44nutritional deficiency disease10.2
45cutis laxa10.2
46abdominal obesity-metabolic syndrome 110.2
47diabetes mellitus, insulin-dependent10.2
48hypercholesterolemia, familial10.2
49angina pectoris10.2
50aortic atherosclerosis10.2

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



Diseases related to leukoencephalopathy, diffuse hereditary, with spheroids

Symptoms for Leukoencephalopathy, Diffuse Hereditary, with Spheroids

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Symptoms by clinical synopsis from OMIM:

221820

Clinical features from OMIM:

221820

HPO human phenotypes related to Leukoencephalopathy, Diffuse Hereditary, with Spheroids:

(show all 19)
id Description Frequency HPO Source Accession
1 autosomal dominant inheritance HP:0000006
2 depression HP:0000716
3 frontal lobe dementia HP:0000727
4 spasticity HP:0001257
5 hyperreflexia HP:0001347
6 rigidity HP:0002063
7 bradykinesia HP:0002067
8 gliosis HP:0002171
9 postural instability HP:0002172
10 apraxia HP:0002186
11 mutism HP:0002300
12 leukoencephalopathy HP:0002352
13 memory impairment HP:0002354
14 shuffling gait HP:0002362
15 abnormality of the cerebral white matter HP:0002500
16 neuronal loss in central nervous system HP:0002529
17 adult onset HP:0003581
18 rapidly progressive HP:0003678
19 cns demyelination HP:0007305

Drugs & Therapeutics for Leukoencephalopathy, Diffuse Hereditary, with Spheroids

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Interventional clinical trials:

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

Genetic Tests for Leukoencephalopathy, Diffuse Hereditary, with Spheroids

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

id Genetic test Affiliating Genes
1 Gliosis, Familial Progressive Subcortical24

Anatomical Context for Leukoencephalopathy, Diffuse Hereditary, with Spheroids

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

33
Brain, Parietal lobe

Animal Models for Leukoencephalopathy, Diffuse Hereditary, with Spheroids or affiliated genes

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Publications for Leukoencephalopathy, Diffuse Hereditary, with Spheroids

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Variations for Leukoencephalopathy, Diffuse Hereditary, with Spheroids

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

67 (show all 14)
id Symbol AA change Variation ID SNP ID
1CSF1Rp.Gly589GluVAR_067397
2CSF1Rp.Glu633LysVAR_067398
3CSF1Rp.Met766ThrVAR_067401
4CSF1Rp.Ala770ProVAR_067402
5CSF1Rp.Ile775AsnVAR_067404
6CSF1Rp.Ile794ThrVAR_067405
7CSF1Rp.Asp837TyrVAR_067406
8CSF1Rp.Phe849SerVAR_067407
9CSF1Rp.Leu868ProVAR_067409
10CSF1Rp.Met875ThrVAR_067410
11CSF1Rp.Pro878ThrVAR_067411
12CSF1Rp.Cys653ArgVAR_072081
13CSF1Rp.Ile843PheVAR_072082
14CSF1Rp.Ile906ThrVAR_072083

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

5 (show all 44)
id Gene Variation Type Significance SNP ID Assembly Location
1CSF1RNM_005211.3(CSF1R): c.2060dupT (p.Ser688Glufs)duplicationPathogenicrs587777245GRCh38Chr 5, 150059772: 150059772
2CSF1RNM_005211.3(CSF1R): c.2442+1G> Tsingle nucleotide variantPathogenicrs587777246GRCh38Chr 5, 150056218: 150056218
3CSF1RNM_005211.3(CSF1R): c.2342C> A (p.Ala781Glu)single nucleotide variantPathogenicrs587777247GRCh38Chr 5, 150056319: 150056319
4CSF1RNM_005211.3(CSF1R): c.1699delA (p.Thr567Argfs)deletionPathogenicrs690016546GRCh38Chr 5, 150061777: 150061777
5CSF1RNM_005211.3(CSF1R): c.1889T> G (p.Leu630Arg)single nucleotide variantPathogenicrs690016547GRCh38Chr 5, 150060942: 150060942
6CSF1RNM_005211.3(CSF1R): c.2330G> A (p.Arg777Gln)single nucleotide variantPathogenicrs690016548GRCh38Chr 5, 150056331: 150056331
7CSF1RNM_005211.3(CSF1R): c.2450T> C (p.Leu817Pro)single nucleotide variantPathogenicrs690016549GRCh38Chr 5, 150056130: 150056130
8CSF1RNM_005211.3(CSF1R): c.2480T> C (p.Ile827Thr)single nucleotide variantPathogenicrs690016550GRCh38Chr 5, 150056100: 150056100
9CSF1RNM_005211.3(CSF1R): c.2541G> C (p.Glu847Asp)single nucleotide variantPathogenicrs690016551GRCh38Chr 5, 150056039: 150056039
10CSF1RNM_005211.3(CSF1R): c.2566T> C (p.Tyr856His)single nucleotide variantPathogenicrs690016552GRCh38Chr 5, 150055325: 150055325
11CSF1RNM_005211.3(CSF1R): c.2701C> T (p.Pro901Ser)single nucleotide variantPathogenicrs690016553GRCh38Chr 5, 150054384: 150054384
12CSF1RNM_005211.3(CSF1R): c.2655-2A> Gsingle nucleotide variantPathogenicrs690016554GRCh38Chr 5, 150054432: 150054432
13CSF1RNM_005211.3(CSF1R): c.2342C> T (p.Ala781Val)single nucleotide variantPathogenicrs587777247GRCh38Chr 5, 150056319: 150056319
14CSF1RNM_005211.3(CSF1R): c.2528T> A (p.Ile843Asn)single nucleotide variantPathogenicrs690016555GRCh38Chr 5, 150056052: 150056052
15CSF1RNM_005211.3(CSF1R): c.2629C> T (p.Gln877Ter)single nucleotide variantPathogenicrs690016556GRCh38Chr 5, 150055262: 150055262
16CSF1RNM_005211.3(CSF1R): c.2512G> C (p.Val838Leu)single nucleotide variantPathogenicrs690016557GRCh38Chr 5, 150056068: 150056068
17CSF1RNM_005211.3(CSF1R): c.2527A> T (p.Ile843Phe)single nucleotide variantPathogenicrs690016558GRCh38Chr 5, 150056053: 150056053
18CSF1RNM_005211.3(CSF1R): c.1957T> C (p.Cys653Arg)single nucleotide variantPathogenicrs690016559GRCh38Chr 5, 150060874: 150060874
19CSF1RNM_005211.3(CSF1R): c.2717T> C (p.Ile906Thr)single nucleotide variantPathogenicrs690016560GRCh38Chr 5, 150054368: 150054368
20CSF1RNM_005211.3(CSF1R): c.2378A> C (p.Lys793Thr)single nucleotide variantPathogenicrs690016561GRCh38Chr 5, 150056283: 150056283
21CSF1RNM_005211.3: c.2467C> Tsingle nucleotide variantPathogenicrs690016562GRCh38Chr 5, 150056112: 150056112
22CSF1RNM_005211.3(CSF1R): c.1745T> C (p.Leu582Pro)single nucleotide variantPathogenicrs690016563GRCh38Chr 5, 150061731: 150061731
23CSF1RNM_005211.3(CSF1R): c.2350G> A (p.Val784Met)single nucleotide variantPathogenicrs690016564GRCh38Chr 5, 150056311: 150056311
24CSF1RNM_005211.3(CSF1R): c.2562T> A (p.Asn854Lys)single nucleotide variantPathogenicrs690016565GRCh38Chr 5, 150055329: 150055329
25CSF1RNM_005211.3(CSF1R): c.2294G> A (p.Gly765Asp)single nucleotide variantPathogenicrs690016566GRCh38Chr 5, 150057312: 150057312
26CSF1RNM_005211.3(CSF1R): c.2624T> C (p.Met875Thr)single nucleotide variantPathogenicrs281860279GRCh37Chr 5, 149434830: 149434830
27CSF1RNM_005211.3(CSF1R): c.1897G> A (p.Glu633Lys)single nucleotide variantPathogenicrs281860269GRCh37Chr 5, 149440497: 149440497
28CSF1RNM_005211.3(CSF1R): c.1754-2A> Gsingle nucleotide variantPathogenicrs281860267GRCh37Chr 5, 149441160: 149441160
29CSF1RNM_005211.3(CSF1R): c.2381T> C (p.Ile794Thr)single nucleotide variantPathogenicrs281860274GRCh37Chr 5, 149435843: 149435843
30CSF1RNM_005211.3(CSF1R): c.2509G> T (p.Asp837Tyr)single nucleotide variantPathogenicrs387906662GRCh37Chr 5, 149435634: 149435634
31CSF1RNM_005211.3(CSF1R): c.1766G> A (p.Gly589Glu)single nucleotide variantPathogenicrs281860268GRCh37Chr 5, 149441146: 149441146
32CSF1RNM_005211.3(CSF1R): c.2297T> C (p.Met766Thr)single nucleotide variantPathogenicrs281860270GRCh37Chr 5, 149436872: 149436872
33CSF1RNM_005211.3(CSF1R): c.2308G> C (p.Ala770Pro)single nucleotide variantPathogenicrs281860271GRCh37Chr 5, 149436861: 149436861
34CSF1RNM_005211.3(CSF1R): c.2320-2A> Gsingle nucleotide variantPathogenicrs281860272GRCh37Chr 5, 149435906: 149435906
35CSF1RNM_005211.3(CSF1R): c.2324T> A (p.Ile775Asn)single nucleotide variantPathogenicrs281860273GRCh37Chr 5, 149435900: 149435900
36CSF1RNM_005211.3(CSF1R): c.2345G> A (p.Arg782His)single nucleotide variantPathogenicrs281860281GRCh37Chr 5, 149435879: 149435879
37CSF1RNM_005211.3(CSF1R): c.2442+5G> Csingle nucleotide variantPathogenicrs281860275GRCh37Chr 5, 149435777: 149435777
38CSF1RNM_005211.3(CSF1R): c.2546T> C (p.Phe849Ser)single nucleotide variantPathogenicrs281860277GRCh37Chr 5, 149435597: 149435597
39CSF1RNM_005211.3(CSF1R): c.2546_2548delTCT (p.Phe849del)deletionPathogenicrs281860276GRCh37Chr 5, 149435595: 149435597
40CSF1RNM_005211.3(CSF1R): c.2603T> C (p.Leu868Pro)single nucleotide variantPathogenicrs281860278GRCh37Chr 5, 149434851: 149434851
41CSF1RNM_005211.3(CSF1R): c.2632C> A (p.Pro878Thr)single nucleotide variantPathogenicrs281860280GRCh37Chr 5, 149434822: 149434822
42CSF1RNM_005211.3(CSF1R): c.1958G> A (p.Cys653Tyr)single nucleotide variantPathogenicrs397515555GRCh37Chr 5, 149440436: 149440436
43CSF1RNM_005211.3(CSF1R): c.2329C> T (p.Arg777Trp)single nucleotide variantPathogenicrs397515556GRCh37Chr 5, 149435895: 149435895
44CSF1RNM_005211.3(CSF1R): c.2483T> C (p.Phe828Ser)single nucleotide variantPathogenicrs397515557GRCh37Chr 5, 149435660: 149435660

Expression for genes affiliated with Leukoencephalopathy, Diffuse Hereditary, with Spheroids

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

Pathways for genes affiliated with Leukoencephalopathy, Diffuse Hereditary, with Spheroids

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GO Terms for genes affiliated with Leukoencephalopathy, Diffuse Hereditary, with Spheroids

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Sources for Leukoencephalopathy, Diffuse Hereditary, with Spheroids

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet