MCID: LKN019
MIFTS: 26

Leukoencephalopathy, Diffuse Hereditary, with Spheroids malady

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

Aliases & Classifications for Leukoencephalopathy, Diffuse Hereditary, with Spheroids

About this section

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

Name: Leukoencephalopathy, Diffuse Hereditary, with Spheroids 49 45 67
Hereditary Diffuse Leukoencephalopathy with Spheroids 45 24 65
Autosomal Dominant Leukoencephalopathy with Neuroaxonal Spheroids 45 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
Gliosis, Familial Progressive Subcortical 11
 
Pigmentary Orthochromatic Leukodystrophy 45
Familial Progressive Subcortical Gliosis 67
Familial Dementia Neumann Type 67
Subcortical Gliosis of Neumann 67
Neuroaxonal Leukodystrophy 45
Gpsc 67
Pold 45

Characteristics:

HPO:

61
leukoencephalopathy, diffuse hereditary, with spheroids:
Onset and clinical course: rapidly progressive, adult onset
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM49 221820
UMLS65 C3711381

Summaries for Leukoencephalopathy, Diffuse Hereditary, with Spheroids

About this section
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 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 cns demyelination, neuronal loss in central nervous system and abnormality of the cerebral white matter. 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

About this section

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:

idRelated DiseaseScoreTop Affiliating Genes
1adult-onset leukoencephalopathy with axonal spheroids and pigmented glia13.0
2csf1r-related hereditary diffuse leukoencephalopathy with spheroids12.5
3hypoalphalipoproteinemia11.9
4tangier disease11.8
5leukodystrophy10.5
6dementia10.3

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



Diseases related to leukoencephalopathy, diffuse hereditary, with spheroids

Symptoms for Leukoencephalopathy, Diffuse Hereditary, with Spheroids

About this section

Symptoms by clinical synopsis from OMIM:

221820

Clinical features from OMIM:

221820

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

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

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


memory loss, bradykinesia, muscle spasticity, muscle rigidity

Drugs & Therapeutics for Leukoencephalopathy, Diffuse Hereditary, with Spheroids

About this section

Interventional clinical trials:

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

Genetic Tests for Leukoencephalopathy, Diffuse Hereditary, with Spheroids

About this section

Anatomical Context for Leukoencephalopathy, Diffuse Hereditary, with Spheroids

About this section

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

About this section

Publications for Leukoencephalopathy, Diffuse Hereditary, with Spheroids

About this section

Variations for Leukoencephalopathy, Diffuse Hereditary, with Spheroids

About this section

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

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

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

About this section

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

About this section

Sources for Leukoencephalopathy, Diffuse Hereditary, with Spheroids

About this section
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