MCID: LKN019
MIFTS: 33

Leukoencephalopathy, Diffuse Hereditary, with Spheroids malady

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

Summaries for Leukoencephalopathy, Diffuse Hereditary, with Spheroids

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Genetics Home Reference:21 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. White matter consists of nerve fibers (axons) covered by a substance called myelin that insulates and protects the nerves. Areas of damage to this brain tissue (white matter lesions) can be seen with magnetic resonance imaging (MRI). Also common in HDLS are swellings called spheroids in the axons of the brain, which are a sign of axon damage. Damage to myelin and axons is thought to contribute to many of the neurological signs and symptoms in people with HDLS.

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 leukodystrophy, 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.

NIH Rare Diseases:41 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

OMIM:45 Hereditary diffuse leukoencephalopathy with spheroids is an autosomal dominant adult-onset rapidly progressive... (221820) more...

Aliases & Classifications for Leukoencephalopathy, Diffuse Hereditary, with Spheroids

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

Name: Leukoencephalopathy, Diffuse Hereditary, with Spheroids 45 41
Hereditary Diffuse Leukoencephalopathy with Spheroids 41 21 47 60
Autosomal Dominant Leukoencephalopathy with Neuroaxonal Spheroids 41 21 47
Familial Progressive Subcortical Gliosis 41 47 22
Hdls 41 21 47
Hereditary Diffuse Leukoencephalopathy with Axonal Spheroids and Pigmented Glia 41 47
Adult-Onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia 41 47
Hereditary Diffuse Leukoencephalopathy with Axonal Spheroids 41 21
Adult-Onset Leukodystrophy with Neuroaxonal Spheroids 41 21
Pigmentary Orthochromatic Leukodystrophy 41 47
 
Familial Dementia, Neumann Type 41 47
Subcortical Gliosis of Neumann 41 47
Neuroaxonal Leukodystrophy 41 21
Gpsc 41 47
Alsp 41 47
Fpsg 41 47
Pold 41 47
Diffuse Leukoencephalopathy with Spheroids 60
Gliosis, Familial Progressive Subcortical 10


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Neuronal diseases, Mental diseases


Characteristics (Orphanet epidemiological data):

47
hereditary diffuse leukoencephalopathy with spheroids:
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult; Age of death: adult


External Ids:

OMIM45 221820
Orphanet47 313808
ICD10 via Orphanet26 E75.2

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 92)
idRelated DiseaseScoreTop Affiliating Genes
1adult-onset leukoencephalopathy with axonal spheroids and pigmented glia11.0
2leukodystrophy10.8
3hepatitis10.8
4atherosclerosis10.8
5endotheliitis10.7
6csf1r-related hereditary diffuse leukoencephalopathy with spheroids10.7
7coronary artery disease10.7
8artery disease10.7
9hypoalphalipoproteinemia10.7
10dementia10.7
11obesity10.6
12tangier disease10.6
13hypertriglyceridemia10.5
14myocardial infarction10.5
15spastic hemiplegia10.4
16primary progressive multiple sclerosis10.4
17hemiplegia10.4
18spasticity10.4
19ischemic heart disease10.4
20hyperalphalipoproteinemia10.4
21acute myocardial infarction10.2
22cutis laxa10.2
23aortic atherosclerosis10.1
24hyperglycemia10.1
25prostatitis10.1
26uremia10.1
27huntington disease-like syndrome10.1
28prostate cancer10.1
29alcohol dependence10.1
30abetalipoproteinemia10.1
31hepatic lipase deficiency10.1
32niemann-pick disease, type b10.1
33pick disease10.1
34alagille syndrome10.1
35angina pectoris10.1
36niemann-pick disease10.1
37glucose intolerance10.1
38metabolic syndrome x10.1
39atrial fibrillation10.1
40coronary stenosis10.1
41kidney disease10.1
42neuropathy10.1
43peritonitis10.1
44vascular disease10.1
45hyperlipidemia type 310.1
46homozygous familial hypercholesterolemia10.1
47hypobetalipoproteinemia, familial, 29.9
48breast cancer9.9
49analbuminemia9.9
50smith-lemli-opitz syndrome9.9

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 18)
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 memory impairment HP:0002354
13 shuffling gait HP:0002362
14 abnormality of the cerebral white matter HP:0002500
15 neuronal loss in central nervous system HP:0002529
16 adult onset HP:0003581
17 rapidly progressive HP:0003678
18 cns demyelination HP:0007305

Drugs & Therapeutics for Leukoencephalopathy, Diffuse Hereditary, with Spheroids

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Drug clinical trials:

Search ClinicalTrials for Leukoencephalopathy, Diffuse Hereditary, with Spheroids

Search 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 Subcortical22

Anatomical Context for Leukoencephalopathy, Diffuse Hereditary, with Spheroids

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

31
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:

62 (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:

6 (show all 22)
id Gene Variation Type Significance SNP ID Assembly Location
1CSF1RNM_005211.3(CSF1R): c.2060dupT (p.Ser688Glufs)duplicationPathogenicGRCh38Chr 5, 150059772: 150059772
2CSF1RNM_005211.3(CSF1R): c.2442+1G> Tsingle nucleotide variantPathogenicGRCh38Chr 5, 150056218: 150056218
3CSF1RNM_005211.3(CSF1R): c.2342C> A (p.Ala781Glu)single nucleotide variantPathogenicGRCh38Chr 5, 150056319: 150056319
4CSF1RNM_005211.3(CSF1R): c.2624T> C (p.Met875Thr)single nucleotide variantPathogenicrs281860279GRCh37Chr 5, 149434830: 149434830
5CSF1RNM_005211.3(CSF1R): c.1897G> A (p.Glu633Lys)single nucleotide variantPathogenicrs281860269GRCh37Chr 5, 149440497: 149440497
6CSF1RNM_005211.3(CSF1R): c.1754-2A> Gsingle nucleotide variantPathogenicrs281860267GRCh37Chr 5, 149441160: 149441160
7CSF1RNM_005211.3(CSF1R): c.2381T> C (p.Ile794Thr)single nucleotide variantPathogenicrs281860274GRCh37Chr 5, 149435843: 149435843
8CSF1RNM_005211.3(CSF1R): c.2509G> T (p.Asp837Tyr)single nucleotide variantPathogenicrs387906662GRCh37Chr 5, 149435634: 149435634
9CSF1RNM_005211.3(CSF1R): c.1766G> A (p.Gly589Glu)single nucleotide variantPathogenicrs281860268GRCh37Chr 5, 149441146: 149441146
10CSF1RNM_005211.3(CSF1R): c.2297T> C (p.Met766Thr)single nucleotide variantPathogenicrs281860270GRCh37Chr 5, 149436872: 149436872
11CSF1RNM_005211.3(CSF1R): c.2308G> C (p.Ala770Pro)single nucleotide variantPathogenicrs281860271GRCh37Chr 5, 149436861: 149436861
12CSF1RNM_005211.3(CSF1R): c.2320-2A> Gsingle nucleotide variantPathogenicrs281860272GRCh37Chr 5, 149435906: 149435906
13CSF1RNM_005211.3(CSF1R): c.2324T> A (p.Ile775Asn)single nucleotide variantPathogenicrs281860273GRCh37Chr 5, 149435900: 149435900
14CSF1RNM_005211.3(CSF1R): c.2345G> A (p.Arg782His)single nucleotide variantPathogenicrs281860281GRCh37Chr 5, 149435879: 149435879
15CSF1RNM_005211.3(CSF1R): c.2442+5G> Csingle nucleotide variantPathogenicrs281860275GRCh37Chr 5, 149435777: 149435777
16CSF1RNM_005211.3(CSF1R): c.2546T> C (p.Phe849Ser)single nucleotide variantPathogenicrs281860277GRCh37Chr 5, 149435597: 149435597
17CSF1RNM_005211.3(CSF1R): c.2546_2548delTCT (p.Phe849del)deletionPathogenicrs281860276GRCh37Chr 5, 149435595: 149435597
18CSF1RNM_005211.3(CSF1R): c.2603T> C (p.Leu868Pro)single nucleotide variantPathogenicrs281860278GRCh37Chr 5, 149434851: 149434851
19CSF1RNM_005211.3(CSF1R): c.2632C> A (p.Pro878Thr)single nucleotide variantPathogenicrs281860280GRCh37Chr 5, 149434822: 149434822
20CSF1RNM_005211.3(CSF1R): c.1958G> A (p.Cys653Tyr)single nucleotide variantPathogenicrs397515555GRCh37Chr 5, 149440436: 149440436
21CSF1RNM_005211.3(CSF1R): c.2329C> T (p.Arg777Trp)single nucleotide variantPathogenicrs397515556GRCh37Chr 5, 149435895: 149435895
22CSF1RNM_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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Compounds 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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Products for genes affiliated with Leukoencephalopathy, Diffuse Hereditary, with Spheroids

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Sources for Leukoencephalopathy, Diffuse Hereditary, with Spheroids

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3CDC
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23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
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46OMIM via Orphanet
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56SNOMED-CT via Orphanet
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61UMLS via Orphanet