ALSP
MCID: HRD092
MIFTS: 38

Hereditary Diffuse Leukoencephalopathy with Spheroids (ALSP) malady

Neuronal diseases category

Summaries for Hereditary Diffuse Leukoencephalopathy with Spheroids

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21Genetics Home Reference, 42NIH Rare Diseases, 63Wikipedia, 46OMIM, 32MalaCards
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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 hepatitis and atherosclerosis. An important gene associated with Hereditary Diffuse Leukoencephalopathy with Spheroids is CSF1R (colony stimulating factor 1 receptor), and among its related pathways is Circadian entrainment. The compounds atropine and acetylcholine have been mentioned in the context of this disorder. Affiliated tissues include brain and parietal lobe, and related mouse phenotype behavior/neurological.

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:63 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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42NIH Rare Diseases, 21Genetics Home Reference, 48Orphanet, 46OMIM
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Neuronal 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


Aliases & Descriptions:

hereditary diffuse leukoencephalopathy with spheroids 42 21 48
autosomal dominant leukoencephalopathy with neuroaxonal spheroids 42 21 48
hdls 42 21 48
adult-onset leukoencephalopathy with axonal spheroids and pigmented glia 42 48
hereditary diffuse leukoencephalopathy with axonal spheroids 42 21
adult-onset leukodystrophy with neuroaxonal spheroids 42 21
leukoencephalopathy, diffuse hereditary, with spheroids 46
pigmentary orthochromatic leukodystrophy 48
neuroaxonal leukodystrophy 21
pold 48
alsp 48


External Ids:

OMIM46 221820

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 96)
idRelated DiseaseScoreTop Affiliating Genes
1hepatitis10.7
2atherosclerosis10.7
3csf1r-related hereditary diffuse leukoencephalopathy with spheroids10.7
4coronary artery disease10.6
5frontotemporal dementia10.6
6obesity10.6
7familial hdl deficiency10.5
8tangier disease10.5
9familial hypercholesterolemia10.5
10myocardial infarction10.4
11hepatitis a10.4
12diabetes mellitus10.4
13alzheimer's disease10.4
14ischemic heart disease10.3
15leukodystrophy10.3
16type 2 diabetes mellitus10.3
17hepatitis c10.2
18cutis laxa10.1
19dementia10.1
20familial hypertriglyceridemia10.1
21hepatitis b10.1
22acute myocardial infarction10.1
23familial combined hyperlipidemia10.1
24aortic atherosclerosis10.1
25familial hyperlipidemia10.1
26hyperglycemia10.1
27uremia10.1
28vascular disease10.1
29huntington disease-like syndrome10.1
30angina pectoris10.0
31niemann-pick disease10.0
32abetalipoproteinemia10.0
33alagille syndrome10.0
34glucose intolerance10.0
35metabolic syndrome x10.0
36alcohol dependence10.0
37coronary stenosis10.0
38diabetic neuropathy10.0
39diabetic retinopathy10.0
40kidney disease10.0
41neuropathy10.0
42peritonitis10.0
43prostatitis10.0
44hyperlipidemia type 310.0
45hdl response to hormone replacement, augmented10.0
46stroke, ischemic9.8
47corneal disease9.8
48smith-lemli-opitz syndrome9.8
49vascular dementia9.8
50antiphospholipid syndrome9.8

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



Diseases related to hereditary diffuse leukoencephalopathy with spheroids

Clinical Features for Hereditary Diffuse Leukoencephalopathy with Spheroids

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46OMIM
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Clinical features from OMIM:

221820

Clinical synopsis from OMIM:

221820

Drugs & Therapeutics for Hereditary Diffuse Leukoencephalopathy with Spheroids

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Hereditary Diffuse Leukoencephalopathy with Spheroids

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Anatomical Context for Hereditary Diffuse Leukoencephalopathy with Spheroids

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32MalaCards
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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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36MGI
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MGI Mouse Phenotypes related to Hereditary Diffuse Leukoencephalopathy with Spheroids:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053868.5APP, HTR4, CSF1R

Publications for Hereditary Diffuse Leukoencephalopathy with Spheroids

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Genetic Variations for Hereditary Diffuse Leukoencephalopathy with Spheroids

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Hereditary Diffuse Leukoencephalopathy with Spheroids:

62 (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

Expression for genes affiliated with Hereditary Diffuse Leukoencephalopathy with Spheroids

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1BioGPS, 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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29KEGG
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Pathways related to Hereditary Diffuse Leukoencephalopathy with Spheroids according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
9.1APP, HTR4

Compounds for genes affiliated with Hereditary Diffuse Leukoencephalopathy with Spheroids

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44Novoseek, 28IUPHAR, 11DrugBank, 49PharmGKB, 24HMDB
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Compounds related to Hereditary Diffuse Leukoencephalopathy with Spheroids according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1atropine44 28 1111.2APP, HTR4
2acetylcholine44 49 28 11 2413.1APP, HTR4
35-hydroxytryptamine449.0HTR4, APP
4gnrh448.8APP, HTR4
5glutamate448.5APP, HTR4, CSF1R

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
1cell surfaceGO:0099869.0APP, CSF1R
2integral to plasma membraneGO:0058878.2APP, HTR4, CSF1R

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

idNameGO IDScoreTop Affiliating Genes
1positive regulation of cell proliferationGO:0082849.3HTR4, CSF1R

Products for genes affiliated with Hereditary Diffuse Leukoencephalopathy with Spheroids

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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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet