ALSP
MCID: HRD092
MIFTS: 47

Hereditary Diffuse Leukoencephalopathy with Spheroids (ALSP) malady

Genetic diseases, Rare diseases, Neuronal diseases, Mental diseases categories
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Summaries for Hereditary Diffuse Leukoencephalopathy 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: Hereditary Diffuse Leukoencephalopathy with Spheroids, also known as autosomal dominant leukoencephalopathy with neuroaxonal spheroids, is related to hepatitis and atherosclerosis, and has symptoms including An important gene associated with Hereditary Diffuse Leukoencephalopathy with Spheroids is CSF1R (colony stimulating factor 1 receptor), and among its related pathways are CREB Pathway and Peptide ligand-binding receptors. The compounds atropine and 5-hydroxytryptamine have been mentioned in the context of this disorder. Affiliated tissues include brain and parietal lobe, and related mouse phenotypes are behavior/neurological and mortality/aging.

NIH Rare Diseases:42 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

Wikipedia:65 Hereditary diffuse leukoencephalopathy with spheroids (HDLS) is a rare adult onset autosomal dominant... more...

Description from OMIM:46 221820

Aliases & Classifications for Hereditary Diffuse Leukoencephalopathy with Spheroids

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Sources:
42NIH Rare Diseases, 21Genetics Home Reference, 62UMLS, 48Orphanet, 46OMIM, 26ICD10 via Orphanet
See all sources

Hereditary Diffuse Leukoencephalopathy with Spheroids, Aliases & Descriptions:

Name: Hereditary Diffuse Leukoencephalopathy with Spheroids 42 21 48 62
Autosomal Dominant Leukoencephalopathy with Neuroaxonal Spheroids 42 21 48 62
Hdls 42 21 48 62
Hereditary Diffuse Leukoencephalopathy with Axonal Spheroids 42 21 62
Adult-Onset Leukodystrophy with Neuroaxonal Spheroids 42 21 62
Neuroaxonal Leukodystrophy 42 21 62
Adult-Onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia 42 48
Leukoencephalopathy, Diffuse Hereditary, with Spheroids 42 46
Pigmentary Orthochromatic Leukodystrophy 42 48
 
Subcortical Gliosis of Neumann 48 62
Pold 42 48
Gpsc 48 62
Hereditary Diffuse Leukoencephalopathy with Axonal Spheroids and Pigmented Glia 48
Gliosis, Familial Progressive Subcortical 62
Familial Progressive Subcortical Gliosis 48
Familial Dementia, Neumann Type 48
Fpsg 48
Alsp 48


Classifications:

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


Characteristics (Orphanet epidemiological data):

48
autosomal dominant leukoencephalopathy with neuroaxonal spheroids:
Inheritance: Autosomal dominant; Prevalence: <1/1000000; Age of onset: Adulthood; Age of death: Adult


External Ids:

OMIM46 221820
ICD10 via Orphanet26 E75.2

Related Diseases for Hereditary Diffuse Leukoencephalopathy with Spheroids

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Diseases in the Hereditary Diffuse Leukoencephalopathy with Spheroids family:

Csf1r-Related Hereditary Diffuse Leukoencephalopathy with Spheroids

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

(show top 50)    (show all 100)
idRelated DiseaseScoreTop Affiliating Genes
1hepatitis10.8
2atherosclerosis10.8
3endotheliitis10.7
4csf1r-related hereditary diffuse leukoencephalopathy with spheroids10.7
5artery disease10.7
6familial hdl deficiency10.7
7frontotemporal dementia10.7
8hypercholesterolemia10.6
9obesity10.6
10tangier disease10.6
11insulin resistance10.6
12hypertriglyceridemia10.5
13familial hypercholesterolemia10.5
14diabetes mellitus10.5
15myocardial infarction10.5
16alzheimer's disease10.4
17multiple sclerosis10.4
18primary progressive multiple sclerosis10.4
19spastic hemiplegia10.4
20hemiplegia10.4
21spasticity10.4
22ischemic heart disease10.4
23type 2 diabetes mellitus10.4
24hyperalphalipoproteinemia10.4
25leukodystrophy10.4
26acute myocardial infarction10.2
27cutis laxa10.2
28dementia10.2
29lung cancer10.2APP
30aortic atherosclerosis10.1
31hyperglycemia10.1
32prostatitis10.1
33uremia10.1
34huntington disease-like syndrome10.1
35hypoalphalipoproteinemia10.1
36angina pectoris10.1
37alagille syndrome10.1
38niemann-pick disease10.1
39prostate cancer10.1
40metabolic syndrome x10.1
41abetalipoproteinemia10.1
42familial combined hyperlipidemia10.1
43familial hypertriglyceridemia10.1
44alcohol dependence10.1
45glucose intolerance10.1
46coronary stenosis10.1
47kidney disease10.1
48neuropathy10.1
49vascular disease10.1
50hyperlipidemia type 310.1

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



Diseases related to hereditary diffuse leukoencephalopathy with spheroids

Symptoms for Hereditary Diffuse Leukoencephalopathy with Spheroids

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Symptoms by clinical synopsis from OMIM:

221820

Clinical features from OMIM:

221820

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

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Drug clinical trials:

Search ClinicalTrials for Hereditary Diffuse Leukoencephalopathy with Spheroids

Search NIH Clinical Center for Hereditary Diffuse Leukoencephalopathy with Spheroids

Genetic Tests for Hereditary Diffuse Leukoencephalopathy with Spheroids

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Anatomical Context for Hereditary Diffuse Leukoencephalopathy with Spheroids

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

32
Brain, Parietal lobe

Animal Models for Hereditary Diffuse Leukoencephalopathy with Spheroids or affiliated genes

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MGI Mouse Phenotypes related to Hereditary Diffuse Leukoencephalopathy with Spheroids:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053868.5CSF1R, HTR4, APP
2MP:00107688.5CSF1R, HTR4, APP
3MP:00053788.4CSF1R, HTR4, APP
4MP:00053768.2APP, HTR4, CSF1R

Publications for Hereditary Diffuse Leukoencephalopathy with Spheroids

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Articles related to Hereditary Diffuse Leukoencephalopathy with Spheroids:

(show all 13)
idTitleAuthorsYear
1
Early pathologic changes in hereditary diffuse leukoencephalopathy with spheroids. (25383640)
2014
2
Hereditary diffuse leukoencephalopathy with spheroids with phenotype of primary progressive multiple sclerosis. (25311247)
2014
3
Hereditary diffuse leukoencephalopathy with spheroids characterized by spastic hemiplegia preceding mental impairment. (24930661)
2014
4
CSF1R mutations in hereditary diffuse leukoencephalopathy with spheroids are loss of function. (24145216)
2013
5
Increasing and persistent DWI changes in a patient with hereditary diffuse leukoencephalopathy with spheroids. (24094860)
2013
6
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
7
Parkinsonian features in hereditary diffuse leukoencephalopathy with spheroids (HDLS) and CSF1R mutations. (23787135)
2013
8
M-CSF receptor mutations in hereditary diffuse leukoencephalopathy with spheroids impair not only kinase activity but also surface expression. (24120500)
2013
9
Mutations in the colony stimulating factor 1 receptor (CSF1R) gene cause hereditary diffuse leukoencephalopathy with spheroids. (22197934)
2012
10
Hereditary diffuse leukoencephalopathy with spheroids: ultrastructural and immunoelectron microscopic studies. (20830237)
2010
11
Hereditary diffuse leukoencephalopathy with spheroids: clinical, pathologic and genetic studies of a new kindred. (16523341)
2006
12
An autopsy case of hereditary diffuse leukoencephalopathy with spheroids, clinically suspected of Alzheimer's disease. (15365727)
2004
13
CSF1R-Related Hereditary Diffuse Leukoencephalopathy with Spheroids (22934315)
1993

Variations for Hereditary Diffuse Leukoencephalopathy with Spheroids

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

64 (show all 11)
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

Clinvar genetic disease variations for Hereditary Diffuse Leukoencephalopathy with Spheroids:

6 (show all 22)
id Gene Name 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 Hereditary Diffuse Leukoencephalopathy with Spheroids

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Expression patterns in normal tissues for genes affiliated with Hereditary Diffuse Leukoencephalopathy with Spheroids

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Pathways for genes affiliated with Hereditary Diffuse Leukoencephalopathy with Spheroids

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Compounds for genes affiliated with Hereditary Diffuse Leukoencephalopathy with Spheroids

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Sources:
44Novoseek, 28IUPHAR, 11DrugBank, 50PharmGKB, 24HMDB
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Compounds related to Hereditary Diffuse Leukoencephalopathy with Spheroids according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1atropine44 28 1111.3HTR4, APP
25-hydroxytryptamine449.2HTR4, APP
3gnrh449.2APP, HTR4
4acetylcholine44 50 28 24 1113.1HTR4, APP
5arginine449.1HTR4, APP
6dexamethasone44 50 28 1111.9CSF1R, APP
7vegf448.7CSF1R, APP
8glutamate448.7CSF1R, HTR4, APP

GO Terms for genes affiliated with Hereditary Diffuse Leukoencephalopathy with Spheroids

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Cellular components related to Hereditary Diffuse Leukoencephalopathy with Spheroids according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1receptor complexGO:0432358.9CSF1R, APP
2cell surfaceGO:0099868.7APP, CSF1R
3integral component of plasma membraneGO:0058878.5CSF1R, HTR4, APP
4plasma membraneGO:0058868.5CSF1R, HTR4, APP

Biological processes related to Hereditary Diffuse Leukoencephalopathy with Spheroids according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1innate immune responseGO:0450879.0CSF1R, APP
2positive regulation of cell proliferationGO:0082849.0CSF1R, HTR4

Products for genes affiliated with Hereditary Diffuse Leukoencephalopathy with Spheroids

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  • Antibodies
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Sources for Hereditary Diffuse Leukoencephalopathy with Spheroids

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet