PLOSL1
MCID: PLY180
MIFTS: 58

Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy 1 (PLOSL1)

Categories: Bone diseases, Fetal diseases, Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases
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Aliases & Classifications for Polycystic Lipomembranous Osteodysplasia with Sclerosing...

MalaCards integrated aliases for Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy 1:

Name: Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy 1 57 73 28 5
Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy 11 24 19 42 58 28 43 38 71 75
Nasu-Hakola Disease 57 11 24 19 42 58 73 12 53 14
Plosl 57 11 24 19 42 58
Nhd 57 11 19 42 58 73
Presenile Dementia with Bone Cysts 57 11 19 42 73
Plo-Sl 11 42 58
Dementia, Progressive, with Lipomembranous Polycystic Osteodysplasia 57 19
Dementia, Prefrontal, with Bone Cysts 57 19
Brain-Bone-Fat Disease 57 19
Plosl1 57 73
Progressive Dementia with Lipomembranous Polycystic Osteodysplasia; Brain-Bone-Fat Disease 11

Characteristics:


Inheritance:

Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy 1: Autosomal recessive 57
Nasu-Hakola Disease: Autosomal recessive 58

Prevelance:

Nasu-Hakola Disease: 1-9/1000000 (Finland) 58

Age Of Onset:

Nasu-Hakola Disease: Adolescent,Adult 58

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
profound dementia and death usually occurs by age 50 years


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare bone diseases
Developmental anomalies during embryogenesis


Summaries for Polycystic Lipomembranous Osteodysplasia with Sclerosing...

MedlinePlus Genetics: 42 Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy, commonly known as PLOSL, is a progressive disorder that affects the bones and brain. "Polycystic lipomembranous osteodysplasia" refers to cyst-like bone changes that can be seen on x-rays. "Sclerosing leukoencephalopathy" describes specific changes in the brain that are found in people with this disorder.The bone abnormalities associated with PLOSL usually become apparent in a person's twenties. In most affected individuals, pain and tenderness in the ankles and feet are the first symptoms of the disease. Several years later, broken bones (fractures) begin to occur frequently, particularly in bones of the ankles, feet, wrists, and hands. Bone pain and fractures are caused by thinning of the bones (osteoporosis) and cyst-like changes. These abnormalities weaken bones and make them more likely to break.The brain abnormalities characteristic of PLOSL typically appear in a person's thirties. Personality changes are among the first noticeable problems, followed by a loss of judgment, feelings of intense happiness (euphoria), a loss of inhibition, and poor concentration. These neurologic changes cause significant problems in an affected person's social and family life. As the disease progresses, it causes a severe decline in thinking and reasoning abilities (dementia). Affected people ultimately become unable to walk, speak, or care for themselves. People with this disease usually live only into their thirties or forties.

MalaCards based summary: Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy 1, also known as polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy, is related to solitary bone cyst and prion disease, and has symptoms including myoclonus, personality changes and seizures. An important gene associated with Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy 1 is TYROBP (Transmembrane Immune Signaling Adaptor TYROBP), and among its related pathways/superpathways are Innate Immune System and Class I MHC mediated antigen processing and presentation. Affiliated tissues include bone, brain and myeloid, and related phenotypes are developmental regression and skeletal dysplasia

OMIM®: 57 Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy is characterized by presenile dementia along with large-scale destruction of cancellous bones. Initial symptoms, starting in the twenties, are pain and swelling resulting from cysts in the wrists and ankles. Extremity bone fractures could occur with minor trauma. At around 30 years of age, patients gradually develop neuropsychiatric symptoms, including epileptic seizures, agnosia, apraxia, speech disorder, memory disturbance, euphoria, and loss of social inhibitions. The disorder usually leads to death in the fifth decade of life (summary by Kondo et al., 2002). (221770) (Updated 08-Dec-2022)

UniProtKB/Swiss-Prot: 73 A recessively inherited disease characterized by presenile dementia along with large-scale destruction of cancellous bones. Initial symptoms, starting in the twenties, are pain and swelling resulting from cysts in the wrists and ankles. Extremity bone fractures could occur with minor trauma. At around 30 years of age, patients gradually develop neuropsychiatric symptoms, including epileptic seizures, agnosia, apraxia, speech disorder, memory disturbance, euphoria, and loss of social inhibitions. The disorder usually leads to death in the fifth decade of life.

Disease Ontology: 11 A syndrome that is characterized by progressive presenile dementia and recurrent bone fractures due to polycystic osseous lesions of the lower and upper extremities that has material basis in homozygous mutation in the TYRO protein tyrosine kinase binding protein (TYROBP) gene on chromosome 19q13 or homozygous mutation in the triggering receptor expressed on myeloid cells 2 (TREM2) gene on chromosome 6p21.

GARD: 19 Nasu-Hakola disease (NHD), also referred to as polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL), is a rare inherited leukodystrophy characterized by progressive presenile dementia associated with recurrent bone fractures due to polycystic osseous lesions of the lower and upper extremities.

Orphanet: 58 Nasu-Hakola disease (NHD), also referred to as polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL), is a rare inherited leukodystrophy characterized by progressive presenile dementia associated with recurrent bone fractures due to polycystic osseous lesions of the lower and upper extremities.

Wikipedia: 75 Nasu-Hakola disease also known as polycystic lipomembranous osteodysplasia with sclerosing... more...

GeneReviews: NBK1197

Related Diseases for Polycystic Lipomembranous Osteodysplasia with Sclerosing...

Diseases in the Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy 1 family:

Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy 2

Diseases related to Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 109)
# Related Disease Score Top Affiliating Genes
1 solitary bone cyst 30.8 TYROBP TREM2
2 prion disease 30.4 PSEN2 PSEN1 APP
3 alzheimer disease, familial, 1 30.4 TREM2 PSEN2 PSEN1 CSF1R APP APOE
4 amyloidosis 30.4 PSEN2 PSEN1 APP APOE
5 dementia 30.1 TYROBP TREM2 PSEN2 PSEN1 CSF1R APP
6 amyotrophic lateral sclerosis 1 29.9 TYROBP TREM2 TMEM119 PSEN2 PSEN1 CX3CR1
7 leukoencephalopathy, hereditary diffuse, with spheroids 1 29.7 TYROBP TREM2 TMEM119 IL34 CX3CR1 CSF1R
8 frontotemporal dementia 29.5 TYROBP TREM2 PSEN2 PSEN1 CSF1R APP
9 osteoarthritis with mild chondrodysplasia 11.1
10 leukodystrophy 10.4
11 alcohol dependence 10.4
12 hydrocephalus 10.4
13 personality disorder 10.4
14 alcohol use disorder 10.4
15 brain edema 10.4
16 lateral sclerosis 10.3
17 cerebral atrophy 10.3
18 senile plaque formation 10.3 APP APOE
19 residual stage of open angle glaucoma 10.3 APP APOE
20 progressive non-fluent aphasia 10.3 TREM2 PSEN1
21 pigmented villonodular synovitis 10.3 IL34 CSF1R CSF1
22 amyotrophic lateral sclerosis 3 10.3 TYROBP TREM2 TREM1 AIF1
23 tenosynovial giant cell tumor 10.2 IL34 CSF1R CSF1
24 binswanger's disease 10.2 APP APOE
25 gerstmann syndrome 10.2 PSEN2 PSEN1 APOE
26 malignant giant cell tumor of the tendon sheath 10.2 CSF1R CSF1 CD33
27 ideomotor apraxia 10.2 PSEN2 PSEN1 APOE
28 anosognosia 10.2 PSEN2 PSEN1 APOE
29 bone benign neoplasm 10.2 IL34 CSF1R CSF1
30 alexia 10.2 PSEN2 PSEN1 APOE
31 nominal aphasia 10.2 PSEN2 PSEN1 APOE
32 communicating hydrocephalus 10.2 PSEN1 APP APOE
33 alzheimer disease 9 10.2 PSEN1 APOE ABCA7
34 synovium neoplasm 10.2 CSF1R CSF1
35 adult syndrome 10.2
36 creutzfeldt-jakob disease 10.2
37 myotonic dystrophy 1 10.2
38 basal ganglia calcification, idiopathic, 1 10.2
39 metachromatic leukodystrophy 10.2
40 myoclonic epilepsy of lafora 10.2
41 myoclonic epilepsy of unverricht and lundborg 10.2
42 adrenoleukodystrophy 10.2
43 aplastic anemia 10.2
44 basal ganglia calcification 10.2
45 bone disease 10.2
46 hypoparathyroidism 10.2
47 status epilepticus 10.2
48 neuroaxonal dystrophy 10.2
49 acute kidney failure 10.2
50 early myoclonic encephalopathy 10.2

Graphical network of the top 20 diseases related to Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy 1:



Diseases related to Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy 1

Symptoms & Phenotypes for Polycystic Lipomembranous Osteodysplasia with Sclerosing...

Human phenotypes related to Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy 1:

58 30 (show top 50) (show all 54)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 developmental regression 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002376
2 skeletal dysplasia 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002652
3 reduced bone mineral density 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0004349
4 irritability 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000737
5 arthralgia 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002829
6 ventriculomegaly 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002119
7 cerebral cortical atrophy 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002120
8 memory impairment 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002354
9 limitation of joint mobility 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001376
10 bone cyst 58 30 Very rare (1%) Very frequent (99-80%)
HP:0012062
11 bone pain 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002653
12 disinhibition 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000734
13 abnormal adipose tissue morphology 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0009124
14 personality changes 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000751
15 frontal lobe dementia 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000727
16 abnormal epiphysis morphology 30 Hallmark (90%) HP:0005930
17 seizure 58 30 Frequent (33%) Frequent (79-30%)
HP:0001250
18 spasticity 58 30 Frequent (33%) Frequent (79-30%)
HP:0001257
19 neurological speech impairment 58 30 Frequent (33%) Frequent (79-30%)
HP:0002167
20 cerebral calcification 58 30 Frequent (33%) Frequent (79-30%)
HP:0002514
21 chorea 58 30 Frequent (33%) Frequent (79-30%)
HP:0002072
22 oculomotor apraxia 58 30 Frequent (33%) Frequent (79-30%)
HP:0000657
23 agnosia 58 30 Frequent (33%) Frequent (79-30%)
HP:0010524
24 hydrocephalus 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000238
25 acute leukemia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002488
26 functional abnormality of the gastrointestinal tract 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0012719
27 dementia 30 Very rare (1%) HP:0000726
28 lateral ventricle dilatation 30 Very rare (1%) HP:0006956
29 eeg abnormality 30 HP:0002353
30 gait disturbance 30 HP:0001288
31 behavioral abnormality 58 Very frequent (99-80%)
32 myoclonus 30 HP:0001336
33 abnormality of movement 58 Frequent (79-30%)
34 abnormality of epiphysis morphology 58 Very frequent (99-80%)
35 babinski sign 30 HP:0003487
36 leukoencephalopathy 30 HP:0002352
37 cerebral atrophy 30 HP:0002059
38 aggressive behavior 30 HP:0000718
39 hypoplasia of the corpus callosum 30 HP:0002079
40 abnormality of the hand 30 HP:0001155
41 urinary incontinence 30 HP:0000020
42 pathologic fracture 30 HP:0002756
43 apraxia 30 HP:0002186
44 caudate atrophy 30 HP:0002340
45 abnormal upper motor neuron morphology 30 HP:0002127
46 gliosis 30 HP:0002171
47 inappropriate behavior 30 HP:0000719
48 lack of insight 30 HP:0000757
49 peripheral demyelination 30 HP:0011096
50 axonal loss 30 HP:0003447

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Neurologic Central Nervous System:
spasticity
gait disturbance
myoclonus
cerebral atrophy
agnosia
more
Genitourinary Bladder:
urinary incontinence

Skeletal Hands:
bone cysts in phalangeal, metacarpal, and carpal bones

Neurologic Behavioral Psychiatric Manifestations:
aggressive behavior
disinhibition
personality changes
frontal lobe dementia
inappropriate behavior
more
Skeletal Limbs:
pathologic fractures
pain and swelling in ankles and wrists after stress or injury beginning around age 20 years
bone cysts filled with necrotic, fatty material
cysts in patella and ends of long bones

Skeletal Feet:
bone cysts in phalangeal, metatarsal, and tarsal bones

Clinical features from OMIM®:

221770 (Updated 08-Dec-2022)

UMLS symptoms related to Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy 1:


myoclonus; personality changes; seizures; muscle spasticity; upper motor neuron signs

MGI Mouse Phenotypes related to Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy 1:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.25 ABCA7 AIF1 APOE APP CD33 CSF1
2 nervous system MP:0003631 10.18 AIF1 APOE APP CSF1 CSF1R CX3CR1
3 no phenotypic analysis MP:0003012 10.09 APOE APP CSF1 CSF1R CX3CR1 HCST
4 cellular MP:0005384 10.07 APOE APP CSF1 CSF1R CX3CR1 HCST
5 immune system MP:0005387 10.06 AIF1 APOE APP CD33 CSF1 CSF1R
6 limbs/digits/tail MP:0005371 9.97 APP CSF1 CSF1R CX3CR1 PSEN1 PSEN2
7 skeleton MP:0005390 9.73 AIF1 APOE APP CSF1 CSF1R CX3CR1
8 hematopoietic system MP:0005397 9.53 AIF1 APOE APP CD33 CSF1 CSF1R

Drugs & Therapeutics for Polycystic Lipomembranous Osteodysplasia with Sclerosing...

Search Clinical Trials, NIH Clinical Center for Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy 1

Cochrane evidence based reviews: polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy

Genetic Tests for Polycystic Lipomembranous Osteodysplasia with Sclerosing...

Genetic tests related to Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy 1:

# Genetic test Affiliating Genes
1 Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy 1 28 TYROBP
2 Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy (plosl) 28

Anatomical Context for Polycystic Lipomembranous Osteodysplasia with Sclerosing...

Organs/tissues related to Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy 1:

MalaCards : Bone, Brain, Myeloid, Monocytes, Bone Marrow, Thalamus, Lung

Publications for Polycystic Lipomembranous Osteodysplasia with Sclerosing...

Articles related to Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy 1:

(show top 50) (show all 196)
# Title Authors PMID Year
1
Loss-of-function mutations in TYROBP (DAP12) result in a presenile dementia with bone cysts. 53 62 24 57 5
10888890 2000
2
Heterogeneity of presenile dementia with bone cysts (Nasu-Hakola disease): three genetic forms. 62 24 57 5
12370476 2002
3
Mutations in TREM2 lead to pure early-onset dementia without bone cysts. 62 24 5
18546367 2008
4
CNS manifestations of Nasu-Hakola disease: a frontal dementia with bone cysts. 62 24 57
11402114 2001
5
Assignment of the locus for PLO-SL, a frontal-lobe dementia with bone cysts, to 19q13. 62 24 57
9463329 1998
6
Vascular changes and blood-brain barrier damage in the pathogenesis of polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (membranous lipodystrophy). 62 24 57
8085433 1994
7
Fine-scale mapping of a novel dementia gene, PLOSL, by linkage disequilibrium. 53 62 57
9828133 1998
8
A novel compound heterozygous mutation in the DAP12 gene in a patient with Nasu-Hakola disease. 53 62 24
17125796 2007
9
The genetic causes of basal ganglia calcification, dementia, and bone cysts: DAP12 and TREM2. 53 62 24
15883308 2005
10
DAP12/TREM2 deficiency results in impaired osteoclast differentiation and osteoporotic features. 53 62 24
12925681 2003
11
The role of TREM2 in Alzheimer's disease and other neurodegenerative disorders. 62 24
30033062 2018
12
Microglial TREM2/DAP12 Signaling: A Double-Edged Sword in Neural Diseases. 62 24
30127720 2018
13
A novel mutation in TREM2 gene causing Nasu-Hakola disease and review of the literature. 62 24
28214109 2017
14
Targeted sequencing approach to identify genetic mutations in Nasu-Hakola disease. 62 24
27904822 2016
15
A Case of Nasu-Hakola Disease without Fractures or Consanguinity Diagnosed Using Exome Sequencing and Treated with Sodium Valproate. 62 24
26598595 2015
16
Homozygous TREM2 mutation in a family with atypical frontotemporal dementia. 62 24
24910390 2014
17
Membranous lipodystrophy: skeletal findings on CT and MRI. 62 24
24777445 2014
18
C9ORF72 expansion does not affect the phenotype in Nasu-Hakola disease with the DAP12 mutation. 62 24
24612676 2014
19
Extremity manifestations and surgical treatment for nasu hakola disease. 62 24
24711942 2014
20
Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy (PLOSL): a new report of an Italian woman and review of the literature. 62 24
23399524 2013
21
Word list learning in patients with polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy. 62 24
23569454 2013
22
Using exome sequencing to reveal mutations in TREM2 presenting as a frontotemporal dementia-like syndrome without bone involvement. 62 24
23318515 2013
23
Rorschach assessment of personality functioning in patients with polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy. 62 24
25286817 2012
24
Gray matter lesions in Nasu-Hakola disease: a report on three autopsy cases. 62 24
20880319 2011
25
Developmental regulation of TREM2 and DAP12 expression in the murine CNS: implications for Nasu-Hakola disease. 62 24
18404378 2009
26
Regional cerebral blood flow in a patient with Nasu-Hakola disease. 62 24
16097640 2005
27
Impaired differentiation of osteoclasts in TREM-2-deficient individuals. 62 24
12913093 2003
28
Mutations in two genes encoding different subunits of a receptor signaling complex result in an identical disease phenotype. 62 24
12080485 2002
29
Hypothalamic haemorrhage and thalamus degeneration in a case of Nasu-Hakola disease with hallucinatory symptoms and central hypothermia. 62 24
10787346 2000
30
Nasu-Hakola syndrome: polycystic lipomembranous osteodysplasia with sclerosing leucoencephalopathy and presenile dementia. 57
9321763 1997
31
Nasu-Hakola disease (membranous lipodystrophy). Clinical, histopathological and biochemical studies of three cases. 62 24
2746291 1989
32
Radiologic bone changes of polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy. 62 24
7079784 1982
33
Hereditary polycystic osteodysplasia with progressive dementia in Sweden. 57
77975 1978
34
Membranous lipodystrophy of bone. 57
579591 1978
35
Lipomembranous polycystic osteodysplasia. 57
827851 1976
36
Bone mineral content in hereditary polycystic osteodysplasia associated with progressive dementia. 57
1189965 1975
37
A new hereditary disease with progressive dementia and polycystic osteodysplasia: neuroradiological analysis of seven cases. 57
4764488 1973
38
Behavioral Variant Frontotemporal Dementia-like Syndrome With Novel Heterozygous TREM2 Frameshift Mutation. 24
30106757 2019
39
Parental influence on human germline de novo mutations in 1,548 trios from Iceland. 24
28959963 2017
40
TREM2 in CNS homeostasis and neurodegenerative disease. 24
26337043 2015
41
TREM2- and DAP12-dependent activation of PI3K requires DAP10 and is inhibited by SHIP1. 53 62
20484116 2010
42
The surface-exposed chaperone, Hsp60, is an agonist of the microglial TREM2 receptor. 53 62
19457124 2009
43
DAP10- and DAP12-associated receptors in innate immunity. 24
19120482 2009
44
Prenatal activation of microglia induces delayed impairment of glutamatergic synaptic function. 53 62
18612411 2008
45
Transcript profiles of dendritic cells of PLOSL patients link demyelinating CNS disorders with abnormalities in pathways of actin bundling and immune response. 53 62
17530208 2007
46
Blockade of TREM-2 exacerbates experimental autoimmune encephalomyelitis. 53 62
17407101 2007
47
TREM2, a DAP12-associated receptor, regulates osteoclast differentiation and function. 53 62
16418779 2006
48
Nasu-Hakola disease (polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy--PLOSL): a dementia associated with bone cystic lesions. From clinical to genetic and molecular aspects. 53 62
15049507 2004
49
[Polycystic lipomembranous osteodysplasia]. 24
11109371 2000
50
A lipid metabolic disease-"membranous lipodystrophy"-an autopsy case demonstrating numerous peculiar membrane-structures composed of compound lipid in bone and bone marrow and various adipose tissues. 24
4800725 1973

Variations for Polycystic Lipomembranous Osteodysplasia with Sclerosing...

ClinVar genetic disease variations for Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy 1:

5 (show all 43)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TYROBP TYROBP, EX1-4DEL DEL Pathogenic
5795 GRCh37:
GRCh38:
2 TYROBP TYROBP, 1-BP DEL, 141G DEL Pathogenic
5796 GRCh37:
GRCh38:
3 TREM2 NM_018965.4(TREM2):c.97C>T (p.Gln33Ter) SNV Pathogenic
5219 rs104894002 GRCh37: 6:41129295-41129295
GRCh38: 6:41161557-41161557
4 TYROBP NM_003332.4(TYROBP):c.2T>C (p.Met1Thr) SNV Pathogenic
5797 rs104894732 GRCh37: 19:36399129-36399129
GRCh38: 19:35908227-35908227
5 TREM2 NM_018965.4(TREM2):c.40+4_40+6del DEL Pathogenic/Likely Pathogenic
56723 rs386834142 GRCh37: 6:41130775-41130777
GRCh38: 6:41163037-41163039
6 TREM2 NM_018965.4(TREM2):c.40G>T (p.Glu14Ter) SNV Likely Pathogenic
56724 rs386834143 GRCh37: 6:41130781-41130781
GRCh38: 6:41163043-41163043
7 TREM2 NM_018965.4(TREM2):c.482+2T>C SNV Likely Pathogenic
56725 rs386834144 GRCh37: 6:41127528-41127528
GRCh38: 6:41159790-41159790
8 TREM2 NM_018965.4(TREM2):c.269del (p.Gly90fs) DEL Likely Pathogenic
56721 rs386834140 GRCh37: 6:41129123-41129123
GRCh38: 6:41161385-41161385
9 TYROBP NM_003332.4(TYROBP):c.141del (p.Met48fs) DEL Likely Pathogenic
56395 rs386833840 GRCh37: 19:36398436-36398436
GRCh38: 19:35907534-35907534
10 TREM2 NM_018965.4(TREM2):c.313del (p.Ala105fs) DEL Likely Pathogenic
56722 rs386834141 GRCh37: 6:41129079-41129079
GRCh38: 6:41161341-41161341
11 TYROBP NM_003332.4(TYROBP):c.262G>T (p.Glu88Ter) SNV Likely Pathogenic
56397 rs386833842 GRCh37: 19:36398134-36398134
GRCh38: 19:35907232-35907232
12 TYROBP NM_003332.4(TYROBP):c.145G>C (p.Gly49Arg) SNV Likely Pathogenic
56396 rs386833841 GRCh37: 19:36398432-36398432
GRCh38: 19:35907530-35907530
13 TYROBP NM_003332.4(TYROBP):c.116G>A (p.Ser39Asn) SNV Likely Pathogenic
56394 rs386833839 GRCh37: 19:36398461-36398461
GRCh38: 19:35907559-35907559
14 TYROBP NM_003332.4(TYROBP):c.-34C>T SNV Uncertain Significance
328897 rs199931680 GRCh37: 19:36399164-36399164
GRCh38: 19:35908262-35908262
15 TYROBP NM_003332.4(TYROBP):c.46C>T (p.Leu16=) SNV Uncertain Significance
732760 rs147393700 GRCh37: 19:36399085-36399085
GRCh38: 19:35908183-35908183
16 TYROBP NM_003332.4(TYROBP):c.180C>G (p.Ala60=) SNV Uncertain Significance
892113 rs199583341 GRCh37: 19:36398397-36398397
GRCh38: 19:35907495-35907495
17 TYROBP NM_003332.4(TYROBP):c.111G>A (p.Thr37=) SNV Uncertain Significance
737347 rs200694727 GRCh37: 19:36398466-36398466
GRCh38: 19:35907564-35907564
18 TYROBP NM_003332.4(TYROBP):c.*103T>A SNV Uncertain Significance
328889 rs777094340 GRCh37: 19:36395368-36395368
GRCh38: 19:35904466-35904466
19 TREM2 NM_018965.4(TREM2):c.*111A>G SNV Uncertain Significance
356673 rs753777378 GRCh37: 6:41126391-41126391
GRCh38: 6:41158653-41158653
20 TYROBP NM_003332.4(TYROBP):c.*154T>C SNV Uncertain Significance
890876 rs554715202 GRCh37: 19:36395317-36395317
GRCh38: 19:35904415-35904415
21 TYROBP NM_003332.4(TYROBP):c.230-3C>T SNV Uncertain Significance
892112 rs779491857 GRCh37: 19:36398169-36398169
GRCh38: 19:35907267-35907267
22 TYROBP NM_003332.4(TYROBP):c.140T>C (p.Val47Ala) SNV Uncertain Significance
892114 rs372140827 GRCh37: 19:36398437-36398437
GRCh38: 19:35907535-35907535
23 TYROBP NM_003332.4(TYROBP):c.112G>A (p.Val38Met) SNV Uncertain Significance
892115 rs199970556 GRCh37: 19:36398465-36398465
GRCh38: 19:35907563-35907563
24 TYROBP NM_003332.4(TYROBP):c.*85C>T SNV Uncertain Significance
328890 rs374144427 GRCh37: 19:36395386-36395386
GRCh38: 19:35904484-35904484
25 TYROBP NM_003332.4(TYROBP):c.*5G>A SNV Uncertain Significance
328893 rs372703196 GRCh37: 19:36395466-36395466
GRCh38: 19:35904564-35904564
26 TYROBP NM_003332.4(TYROBP):c.-50G>A SNV Uncertain Significance
328898 rs371441146 GRCh37: 19:36399180-36399180
GRCh38: 19:35908278-35908278
27 TREM2 NM_018965.4(TREM2):c.632T>C (p.Leu211Pro) SNV Likely Benign
356676 rs2234256 GRCh37: 6:41126655-41126655
GRCh38: 6:41158917-41158917
28 TREM2 NM_018965.4(TREM2):c.514C>T (p.Pro172Ser) SNV Likely Benign
522336 rs781302866 GRCh37: 6:41126773-41126773
GRCh38: 6:41159035-41159035
29 TREM2 NM_018965.4(TREM2):c.287C>A (p.Thr96Lys) SNV Likely Benign
356678 rs2234253 GRCh37: 6:41129105-41129105
GRCh38: 6:41161367-41161367
30 TREM2 NM_018965.4(TREM2):c.399G>T (p.Leu133=) SNV Likely Benign
290058 rs144250872 GRCh37: 6:41127613-41127613
GRCh38: 6:41159875-41159875
31 TREM2 NM_018965.4(TREM2):c.185G>A (p.Arg62His) SNV Benign
445645 rs143332484 GRCh37: 6:41129207-41129207
GRCh38: 6:41161469-41161469
32 TYROBP NM_003332.4(TYROBP):c.68G>A (p.Arg23His) SNV Benign
328896 rs79272253 GRCh37: 19:36398658-36398658
GRCh38: 19:35907756-35907756
33 TYROBP NM_003332.4(TYROBP):c.163G>T (p.Val55Leu) SNV Benign
196360 rs77782321 GRCh37: 19:36398414-36398414
GRCh38: 19:35907512-35907512
34 TYROBP NM_003332.4(TYROBP):c.123C>G (p.Gly41=) SNV Benign
328894 rs111477177 GRCh37: 19:36398454-36398454
GRCh38: 19:35907552-35907552
35 TYROBP NM_003332.4(TYROBP):c.94+10G>C SNV Benign
328895 rs55746266 GRCh37: 19:36398622-36398622
GRCh38: 19:35907720-35907720
36 TYROBP NM_003332.4(TYROBP):c.*25A>C SNV Benign
328892 rs1802029 GRCh37: 19:36395446-36395446
GRCh38: 19:35904544-35904544
37 TYROBP NM_003332.4(TYROBP):c.*140T>C SNV Benign
328888 rs113207157 GRCh37: 19:36395331-36395331
GRCh38: 19:35904429-35904429
38 TYROBP NM_003332.4(TYROBP):c.*83C>T SNV Benign
328891 rs14715 GRCh37: 19:36395388-36395388
GRCh38: 19:35904486-35904486
39 TREM2 NM_018965.4(TREM2):c.233G>A (p.Trp78Ter) SNV Not Provided
5213 rs104893998 GRCh37: 6:41129159-41129159
GRCh38: 6:41161421-41161421
40 TREM2 NM_018965.4(TREM2):c.377T>G (p.Val126Gly) SNV Not Provided
5218 rs121908402 GRCh37: 6:41129015-41129015
GRCh38: 6:41161277-41161277
41 TREM2 NM_018965.4(TREM2):c.113A>G (p.Tyr38Cys) SNV Not Provided
192241 rs797044603 GRCh37: 6:41129279-41129279
GRCh38: 6:41161541-41161541
42 TREM2 NM_018965.4(TREM2):c.197C>T (p.Thr66Met) SNV Not Provided
192242 rs201258663 GRCh37: 6:41129195-41129195
GRCh38: 6:41161457-41161457
43 TYROBP NG_009304.1:g.2160_7401del DEL Not Provided
192243 GRCh37: 19:36396785-36402026
GRCh38: 19:35905883-35911124

Expression for Polycystic Lipomembranous Osteodysplasia with Sclerosing...

Search GEO for disease gene expression data for Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy 1.

Pathways for Polycystic Lipomembranous Osteodysplasia with Sclerosing...

Pathways related to Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy 1 according to GeneCards Suite gene sharing:

(show all 16)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.55 TYROBP TREML2 TREML1 TREM2 TREM1 SYK
2
Show member pathways
13.33 TYROBP TREML2 TREML1 TREM2 TREM1 SYK
3
Show member pathways
12.67 PSEN2 PSEN1 CSF1 APP APOE
4 12.39 TREM2 PSEN2 PSEN1 APP APOE
5
Show member pathways
12.1 SYK IL34 CSF1R CSF1
6 11.8 CX3CR1 CSF1 CD33
7 11.57 CX3CR1 CSF1R CSF1
8
Show member pathways
11.5 TYROBP TREM2 TREM1 SYK
9 11.29 TYROBP TREML2 TREML1 TREM2 TREM1 HCST
10
Show member pathways
11.23 TYROBP TREM2 TREM1 SYK SIRPB1
11 11.21 PSEN2 PSEN1 APP APOE
12 11.11 CX3CR1 APP APOE
13 10.96 CSF1 CSF1R IL34
14 10.91 PSEN2 PSEN1 APP
15 10.54 PSEN2 PSEN1
16 10.18 PSEN2 PSEN1

GO Terms for Polycystic Lipomembranous Osteodysplasia with Sclerosing...

Cellular components related to Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016021 10.77 PSEN1 HCST CX3CR1 CSF1R CSF1 CD33
2 membrane GO:0016020 10.77 PSEN1 HCST CX3CR1 CSF1R CSF1 CD33
3 plasma membrane GO:0005887 10.52 APP CD33 CSF1R CX3CR1 PSEN1 PSEN2
4 plasma membrane GO:0005886 10.52 APP CD33 CSF1R CX3CR1 PSEN1 PSEN2
5 dendritic shaft GO:0043198 9.85 PSEN2 PSEN1 APP
6 ciliary rootlet GO:0035253 9.73 PSEN2 PSEN1 APP
7 gamma-secretase complex GO:0070765 9.71 PSEN2 PSEN1
8 cell surface GO:0009986 9.66 ABCA7 APP CSF1R CX3CR1 HCST PSEN1
9 CSF1-CSF1R complex GO:1990682 9.62 CSF1R CSF1

Biological processes related to Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy 1 according to GeneCards Suite gene sharing:

(show all 45)
# Name GO ID Score Top Affiliating Genes
1 innate immune response GO:0045087 10.44 TREML1 TREM1 SYK IL34 CX3CR1 CSF1R
2 positive regulation of gene expression GO:0010628 10.39 APP CSF1 IL34 PSEN1 TMEM119 TREM2
3 regulation of gene expression GO:0010468 10.33 TREM2 PSEN1 APP APOE AIF1
4 positive regulation of ERK1 and ERK2 cascade GO:0070374 10.31 ABCA7 APOE APP CSF1R TREM2
5 positive regulation of tumor necrosis factor production GO:0032760 10.22 TYROBP SYK PSEN1 APP
6 positive regulation of interleukin-6 production GO:0032755 10.21 TYROBP SYK APP AIF1
7 memory GO:0007613 10.18 TREM2 PSEN1 CX3CR1 ABCA7
8 positive regulation of phagocytosis GO:0050766 10.15 TREM2 SIRPB1 ABCA7
9 positive regulation of chemokine production GO:0032722 10.15 CSF1R APP AIF1
10 cellular response to amyloid-beta GO:1904646 10.14 TREM2 PSEN1 APP
11 negative regulation of interleukin-1 beta production GO:0032691 10.13 CD33 CX3CR1 TREM2
12 response to axon injury GO:0048678 10.13 AIF1 TREM2 TYROBP
13 response to ischemia GO:0002931 10.1 TREM2 CX3CR1 CSF1R CSF1
14 forebrain development GO:0030900 10.09 TYROBP PSEN1 APP
15 osteoclast differentiation GO:0030316 10.08 CSF1 CSF1R TREM2 TYROBP
16 microglial cell activation GO:0001774 10.07 AIF1 APP TREM2
17 immune system process GO:0002376 10.07 TYROBP TREM1 SYK IL34 CX3CR1 CSF1R
18 positive regulation of cholesterol efflux GO:0010875 10.06 ABCA7 APOE TREM2
19 positive regulation of macrophage chemotaxis GO:0010759 10.01 IL34 CSF1R CSF1
20 regulation of resting membrane potential GO:0060075 10 TREM2 PSEN1
21 positive regulation of monocyte differentiation GO:0045657 9.99 IL34 CSF1
22 Notch receptor processing GO:0007220 9.99 PSEN2 PSEN1
23 amyloid-beta clearance by cellular catabolic process GO:0150094 9.99 TREM2 ABCA7
24 astrocyte activation GO:0048143 9.99 TREM2 PSEN1 APP
25 neutrophil activation involved in immune response GO:0002283 9.98 TYROBP SYK
26 positive regulation of protein phosphorylation GO:0001934 9.97 TREM2 TMEM119 PSEN1 IL34 CSF1R APP
27 positive regulation of mononuclear cell migration GO:0071677 9.96 CSF1 AIF1
28 positive regulation of macrophage fusion GO:0034241 9.96 TYROBP TREM2
29 cellular response to lipid GO:0071396 9.95 SYK TREM2
30 positive regulation of phospholipid efflux GO:1902995 9.94 APOE ABCA7
31 regulation of amyloid precursor protein catabolic process GO:1902991 9.94 APOE ABCA7
32 macrophage colony-stimulating factor signaling pathway GO:0038145 9.93 CSF1R CSF1
33 astrocyte activation involved in immune response GO:0002265 9.93 PSEN1 APP
34 amyloid-beta formation GO:0034205 9.93 PSEN2 PSEN1 ABCA7
35 positive regulation of amyloid-beta clearance GO:1900223 9.91 TREM2 APOE ABCA7
36 positive regulation of microglial cell migration GO:1904141 9.88 TREM2 CX3CR1 CSF1
37 positive regulation of engulfment of apoptotic cell GO:1901076 9.87 TREM2 ABCA7
38 smooth endoplasmic reticulum calcium ion homeostasis GO:0051563 9.86 PSEN1 APP
39 positive regulation of macrophage proliferation GO:0120041 9.85 IL34 CSF1R CSF1
40 regulation of epidermal growth factor-activated receptor activity GO:0007176 9.8 PSEN1 APP
41 microglial cell activation involved in immune response GO:0002282 9.8 TYROBP TREM2 CX3CR1
42 positive regulation of amyloid fibril formation GO:1905908 9.73 APOE APP PSEN1
43 negative regulation of low-density lipoprotein receptor activity GO:1905598 9.68 APP PSEN1
44 negative regulation of long-term synaptic potentiation GO:1900272 9.56 TYROBP CX3CR1 APP APOE
45 microglial cell proliferation GO:0061518 9.23 TREM2 IL34 CSF1R CSF1

Molecular functions related to Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 growth factor receptor binding GO:0070851 9.56 PSEN1 APP
2 lipoprotein particle binding GO:0071813 9.46 TREM2 APOE
3 aspartic endopeptidase activity, intramembrane cleaving GO:0042500 9.26 PSEN2 PSEN1
4 macrophage colony-stimulating factor receptor binding GO:0005157 8.92 IL34 CSF1

Sources for Polycystic Lipomembranous Osteodysplasia with Sclerosing...

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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