ALSP
MCID: HRD092
MIFTS: 46

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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43NIH Rare Diseases, 21Genetics Home Reference, 65Wikipedia, 47OMIM, 33MalaCards
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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: Hereditary Diffuse Leukoencephalopathy with Spheroids, also known as autosomal dominant leukoencephalopathy with neuroaxonal spheroids, is related to leukodystrophy and hepatitis. 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:43 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:47 221820

Aliases & Classifications for Hereditary Diffuse Leukoencephalopathy with Spheroids

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43NIH Rare Diseases, 21Genetics Home Reference, 47OMIM, 49Orphanet, 26ICD10 via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

49
autosomal dominant leukoencephalopathy with neuroaxonal spheroids:
Inheritance: Autosomal dominant; Prevalence: <1/1000000; Age of onset: Adulthood; Age of death: Adult


Aliases & Descriptions:

hereditary diffuse leukoencephalopathy with spheroids 43 21 49
autosomal dominant leukoencephalopathy with neuroaxonal spheroids 43 21 49
hdls 43 21 49
adult-onset leukoencephalopathy with axonal spheroids and pigmented glia 43 49
hereditary diffuse leukoencephalopathy with axonal spheroids 43 21
leukoencephalopathy, diffuse hereditary, with spheroids 43 47
adult-onset leukodystrophy with neuroaxonal spheroids 43 21
pigmentary orthochromatic leukodystrophy 43 49
neuroaxonal leukodystrophy 43 21
pold 43 49
hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia 49
familial progressive subcortical gliosis 49
familial dementia, neumann type 49
subcortical gliosis of neumann 49
alsp 49
gpsc 49
fpsg 49


External Ids:

OMIM47 221820
ICD10 via Orphanet26 E75.2

Related Diseases for Hereditary Diffuse Leukoencephalopathy with Spheroids

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17GeneCards, 18GeneDecks
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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 92)
idRelated DiseaseScoreTop Affiliating Genes
1leukodystrophy10.8
2hepatitis10.8
3atherosclerosis10.8
4csf1r-related hereditary diffuse leukoencephalopathy with spheroids10.7
5endotheliitis10.7
6coronary artery disease10.7
7artery disease10.7
8familial hdl deficiency10.6
9frontotemporal dementia10.6
10dementia10.6
11hypercholesterolemia10.6
12obesity10.6
13insulin resistance10.6
14tangier disease10.5
15hypertriglyceridemia10.5
16familial hypercholesterolemia10.5
17myocardial infarction10.5
18diabetes mellitus10.5
19alzheimer's disease10.4
20type 2 diabetes mellitus10.3
21hyperalphalipoproteinemia10.3
22acute myocardial infarction10.2
23cutis laxa10.2
24aortic atherosclerosis10.1
25hyperglycemia10.1
26uremia10.1
27lung cancer10.0APP
28angina pectoris10.0
29abetalipoproteinemia10.0
30alagille syndrome10.0
31glucose intolerance10.0
32familial hypertriglyceridemia10.0
33familial combined hyperlipidemia10.0
34alcohol dependence10.0
35metabolic syndrome x10.0
36coronary stenosis10.0
37kidney disease10.0
38neuropathy10.0
39peritonitis10.0
40prostatitis10.0
41vascular disease10.0
42hyperlipidemia type 310.0
43hepatic lipase deficiency10.0
44hdl response to hormone replacement, augmented10.0
45hypoalphalipoproteinemia10.0
46malignant glioma10.0CSF1R, APP
47glioblastoma multiforme10.0CSF1R, APP
48age related macular degeneration9.9
49vascular dementia9.9
50gaucher's disease9.9

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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47OMIM
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Symptoms by clinical synopsis from OMIM:

221820

Clinical features from OMIM:

221820

Drugs & Therapeutics for Hereditary Diffuse Leukoencephalopathy with Spheroids

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42NIH Clinical Center, 6ClinicalTrials
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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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33MalaCards
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MalaCards organs/tissues related to Hereditary Diffuse Leukoencephalopathy with Spheroids:

33
Brain, Parietal lobe

Animal Models for Hereditary Diffuse Leukoencephalopathy with Spheroids or affiliated genes

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37MGI
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MGI Mouse Phenotypes related to Hereditary Diffuse Leukoencephalopathy with Spheroids:

37
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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52PubMed
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Articles related to Hereditary Diffuse Leukoencephalopathy with Spheroids:

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

Variations for Hereditary Diffuse Leukoencephalopathy with Spheroids

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64UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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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:

1 (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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2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Hereditary Diffuse Leukoencephalopathy with Spheroids

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

Pathways for genes affiliated with Hereditary Diffuse Leukoencephalopathy with Spheroids

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50PathCards, 53QIAGEN, 55Reactome, 38NCBI BioSystems Database, 30KEGG
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Compounds for genes affiliated with Hereditary Diffuse Leukoencephalopathy with Spheroids

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45Novoseek, 29IUPHAR, 11DrugBank, 51PharmGKB, 24HMDB
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Compounds related to Hereditary Diffuse Leukoencephalopathy with Spheroids according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1atropine45 29 1111.3HTR4, APP
25-hydroxytryptamine459.2HTR4, APP
3gnrh459.2APP, HTR4
4acetylcholine45 51 29 24 1113.1HTR4, APP
5arginine459.1HTR4, APP
6dexamethasone45 51 29 1111.9CSF1R, APP
7vegf458.7CSF1R, APP
8glutamate458.7CSF1R, HTR4, APP

GO Terms for genes affiliated with Hereditary Diffuse Leukoencephalopathy with Spheroids

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16Gene Ontology
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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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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet