PLOSL
MCID: PLY180
MIFTS: 47

Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy 1 (PLOSL)

Categories: Bone diseases, Fetal diseases, Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases

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 58
Nasu-Hakola Disease 58 12 25 54 26 60 76 38 13 56 15
Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy 12 25 54 26 60 76 30 6 45 41
Plosl 58 12 54 26 60 76
Nhd 58 12 54 26 60 76
Presenile Dementia with Bone Cysts 58 12 54 26 76
Plo-Sl 12 26 60
Dementia, Progressive, with Lipomembranous Polycystic Osteodysplasia 58 54
Dementia, Prefrontal, with Bone Cysts 58 54
Brain-Bone-Fat Disease 58 54
Progressive Dementia with Lipomembranous Polycystic Osteodysplasia; Brain-Bone-Fat Disease 12
Nasu-Hakola Disease; Nhd 58
Plosl1 58

Characteristics:

Orphanet epidemiological data:

60
nasu-hakola disease
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Finland); Age of onset: Adolescent,Adult; Age of death: adult;

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
profound dementia and death usually occurs by age 50 years


HPO:

33
polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Polycystic Lipomembranous Osteodysplasia with Sclerosing...

NIH Rare Diseases : 54 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 2770Disease definitionNasu-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.EpidemiologyOver 200 cases have been reported worldwide in the literature, the majority of them being in the Japanese and Finnish population. The prevalence in Finland is estimated between 1/500,000 and 1/1,000,000.Clinical descriptionThe disease course is generally divided into four stages: latent, osseous, early neurologic, and late neurologic. After a normal development during childhood (latent stage), the disease starts manifesting during adolescence or young adulthood (typical age of onset 20-30 years) with pain in the hands, wrists, ankles, and feet. Patients then start suffering from recurrent bone fractures due to polycystic osseous and osteoporotic lesions in the limb bones (osseous stage). During the third or fourth decade of life (early neurologic stage), patients present with pronounced personality changes (e.g. euphoria, lack of concentration, loss of judgment and social inhibitions) characteristic of a frontal lobe syndrome. Patients also typically suffer from initially mild, but progressive, memory disturbances. Epileptic seizures are frequently observed. Finally (late neurologic stage), patients progress to a profound dementia, are unable to speak and move, and usually die by the age of 50 years. Occasionally, the disease presents a different course with the neurologic symptoms preceding the osseous ones.EtiologyNHD is due to mutations in either the TYROBP or TREM2 genes encoding the tyrosine kinase binding adaptor protein and the triggering receptor expressed on myeloid cells 2 respectively. These genes encode components of a signaling complex involved in the regulation of immune responses, the differentiation of dendritic cells and osteoclasts, and in the phagocytic activity of microglia. The exact pathogenic mechanism is unknown.Diagnostic methodsDiagnosis is based on clinical and radiologic examination. X-rayimaging shows multifocal cystic lesions on the bones of hands, wrists, feet and ankles. Brain computed tomography (CT) or magnetic resonance imaging (MRI) shows frontally accentuated atrophy of the cerebral white matter. Bilateral calcifications of the basal ganglia are typical. EEG is normal in the early stages but shows diffuse slowing and irritative activity in late stages. Histopathologically, loss of axons and myelin as well as fibrillary gliosis are observed. Molecular genetic testing confirms the diagnosis in ambiguous cases.Differential diagnosisThe combination of frontal-type dementia starting in the fourth decade and radiologically demonstrable polycystic osseous lesions is unique and facilitates the differentiation of NHD from other forms of familial and non-familial frontotemporal dementia such as frontotemporal dementia and parkinsonism linked to chromosome 17 (see this term).Antenatal diagnosisDue to the low carrier frequency of the mutation in the general population, prenatal diagnostic procedures are usually not reasonable, except in genetic isolates.Genetic counselingTransmission is autosomal recessive. Children of an NHD patient are healthy carriers of the mutation unless they have also inherited a disease-causing mutation in the TYROBP or TREM2 genes from the other parent. Presymptomatic testing is commercially available.Management and treatmentThere is no curative treatment for the disease. Management is supportive. Antiepileptic drugs are prescribed to prevent seizures. A regular orthopedic and neurologic surveillance is recommended.PrognosisNHD is a progressive disease that is fatal usually during the fifth decade of life.Visit the Orphanet disease page for more resources.

MalaCards based summary : Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy 1, also known as nasu-hakola disease, is related to polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2 and osteoarthritis with mild chondrodysplasia, and has symptoms including seizures, myoclonus and personality changes. An important gene associated with Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy 1 is TYROBP (TYRO Protein Tyrosine Kinase Binding Protein), and among its related pathways/superpathways are Osteoclast differentiation and Innate Immune System. Affiliated tissues include bone, brain and testes, and related phenotypes are abnormality of epiphysis morphology and developmental regression

Disease Ontology : 12 An autosomal recessive disease 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 TYROBP gene on chromosome 19q13 or homozygous mutation in the TREM2 gene on chromosome 6p21.

Genetics Home Reference : 26 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.

OMIM : 58 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 usuallly leads to death in the fifth decade of life (summary by Kondo et al., 2002). (221770)

UniProtKB/Swiss-Prot : 76 Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy: Recessively inherited disease characterized by a combination of psychotic symptoms rapidly progressing to presenile dementia and bone cysts restricted to wrists and ankles. PLOSL has a global distribution, although most of the patients have been diagnosed in Finland and Japan, with an estimated population prevalence of 2x10(-6) in the Finns.

Wikipedia : 77 Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy is a rare disease... more...

GeneReviews: NBK1197

Related Diseases for Polycystic Lipomembranous Osteodysplasia with Sclerosing...

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:

60 33 (show top 50) (show all 52)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of epiphysis morphology 60 33 hallmark (90%) Very frequent (99-80%) HP:0005930
2 developmental regression 60 33 hallmark (90%) Very frequent (99-80%) HP:0002376
3 skeletal dysplasia 60 33 hallmark (90%) Very frequent (99-80%) HP:0002652
4 arthralgia 60 33 hallmark (90%) Very frequent (99-80%) HP:0002829
5 irritability 60 33 hallmark (90%) Very frequent (99-80%) HP:0000737
6 limitation of joint mobility 60 33 hallmark (90%) Very frequent (99-80%) HP:0001376
7 reduced bone mineral density 60 33 hallmark (90%) Very frequent (99-80%) HP:0004349
8 ventriculomegaly 60 33 hallmark (90%) Very frequent (99-80%) HP:0002119
9 cerebral cortical atrophy 60 33 hallmark (90%) Very frequent (99-80%) HP:0002120
10 memory impairment 60 33 hallmark (90%) Very frequent (99-80%) HP:0002354
11 bone pain 60 33 hallmark (90%) Very frequent (99-80%) HP:0002653
12 bone cyst 60 33 hallmark (90%) Very frequent (99-80%) HP:0012062
13 disinhibition 60 33 hallmark (90%) Very frequent (99-80%) HP:0000734
14 personality changes 60 33 hallmark (90%) Very frequent (99-80%) HP:0000751
15 frontal lobe dementia 60 33 hallmark (90%) Very frequent (99-80%) HP:0000727
16 abnormal adipose tissue morphology 33 hallmark (90%) HP:0009124
17 seizures 60 33 frequent (33%) Frequent (79-30%) HP:0001250
18 spasticity 60 33 frequent (33%) Frequent (79-30%) HP:0001257
19 chorea 60 33 frequent (33%) Frequent (79-30%) HP:0002072
20 neurological speech impairment 60 33 frequent (33%) Frequent (79-30%) HP:0002167
21 cerebral calcification 60 33 frequent (33%) Frequent (79-30%) HP:0002514
22 oculomotor apraxia 60 33 frequent (33%) Frequent (79-30%) HP:0000657
23 agnosia 60 33 frequent (33%) Frequent (79-30%) HP:0010524
24 hydrocephalus 60 33 occasional (7.5%) Occasional (29-5%) HP:0000238
25 acute leukemia 60 33 occasional (7.5%) Occasional (29-5%) HP:0002488
26 functional abnormality of the gastrointestinal tract 60 33 occasional (7.5%) Occasional (29-5%) HP:0012719
27 gait disturbance 33 HP:0001288
28 eeg abnormality 33 HP:0002353
29 behavioral abnormality 60 Very frequent (99-80%)
30 abnormality of movement 60 Frequent (79-30%)
31 pathologic fracture 33 HP:0002756
32 myoclonus 33 HP:0001336
33 babinski sign 33 HP:0003487
34 abnormality of the foot 33 HP:0001760
35 apraxia 33 HP:0002186
36 aggressive behavior 33 HP:0000718
37 abnormality of the hand 33 HP:0001155
38 urinary incontinence 33 HP:0000020
39 hypoplasia of the corpus callosum 33 HP:0002079
40 peripheral demyelination 33 HP:0011096
41 cerebral atrophy 33 HP:0002059
42 abnormality of adipose tissue 60 Very frequent (99-80%)
43 gliosis 33 HP:0002171
44 inappropriate behavior 33 HP:0000719
45 axonal loss 33 HP:0003447
46 caudate atrophy 33 HP:0002340
47 abnormal upper motor neuron morphology 33 HP:0002127
48 lack of insight 33 HP:0000757
49 primitive reflex 33 HP:0002476
50 leukoencephalopathy 33 HP:0002352

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
seizures
spasticity
gait disturbance
myoclonus
apraxia
more
Genitourinary Bladder:
urinary incontinence

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

Neurologic Behavioral Psychiatric Manifestations:
aggressive behavior
disinhibition
personality changes
inappropriate behavior
frontal lobe dementia
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

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


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

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 30 TYROBP
2 Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy (plosl) 30

Anatomical Context for Polycystic Lipomembranous Osteodysplasia with Sclerosing...

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

42
Bone, Brain, Testes, Myeloid, Monocytes

Publications for Polycystic Lipomembranous Osteodysplasia with Sclerosing...

Articles related to Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy 1:

(show all 44)
# Title Authors Year
1
Nasu-Hakola disease (polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy): First report from India. ( 29547188 )
2018
2
Early-onset dementia, leukoencephalopathy and brain calcifications: a clinical, imaging and pathological comparison of ALSP and PLOSL/Nasu Hakola disease. ( 30242731 )
2018
3
Nasu Hakola Disease: A Rare Cause of Dementia and Cystic Bone Lesions, Report of a New Turkish Family. ( 30042649 )
2018
4
Microglia express gamma-interferon-inducible lysosomal thiol reductase in the brains of Alzheimer's disease and Nasu-Hakola disease. ( 30560017 )
2018
5
Expression of GPR17, a regulator of oligodendrocyte differentiation and maturation, in Nasu-Hakola disease brains. ( 28357182 )
2017
6
A novel mutation in TREM2 gene causing Nasu-Hakola disease and review of the literature. ( 28214109 )
2017
7
Adult onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP) and Nasu-Hakola disease: Lesion staging and dynamic changes of axons and microglial subsets. ( 27608278 )
2016
8
Targeted sequencing approach to identify genetic mutations in Nasu-Hakola disease. ( 27904822 )
2016
9
Expression of gp91phox and p22phox, catalytic subunits of NADPH oxidase, on microglia in Nasu-Hakola disease brains. ( 27904823 )
2016
10
Variable expression of microglial DAP12 and TREM2 genes in Nasu-Hakola disease. ( 26001891 )
2015
11
Immunohistochemical characterization of CD33 expression on microglia in Nasu-Hakola disease brains. ( 26087043 )
2015
12
A Case of Nasu-Hakola Disease without Fractures or Consanguinity Diagnosed Using Exome Sequencing and Treated with Sodium Valproate. ( 26598595 )
2015
13
The TREM2-DAP12 signaling pathway in Nasu-Hakola disease: a molecular genetics perspective. ( 26478868 )
2015
14
Computed tomography and magnetic resonance imaging in the osseous phase of Nasu-Hakola disease. ( 25098485 )
2014
15
Extremity manifestations and surgical treatment for nasu hakola disease. ( 24711942 )
2014
16
Nasu-Hakola disease as suspected cause for bone disease and dementia. ( 24662559 )
2014
17
Direct induction of ramified microglia-like cells from human monocytes: dynamic microglial dysfunction in Nasu-Hakola disease. ( 24825127 )
2014
18
Nasu-Hakola disease revealed on X-ray. ( 25318814 )
2014
19
LC3, an autophagosome marker, is expressed on oligodendrocytes in Nasu-Hakola disease brains. ( 24886140 )
2014
20
C9ORF72 expansion does not affect the phenotype in Nasu-Hakola disease with the DAP12 mutation. ( 24612676 )
2014
21
TREM2, frontotemporal dementia-like disease, Nasu-Hakola disease, and Alzheimer dementia: a chicken and egg problem? ( 23753970 )
2013
22
The case of a 43-year old Turkish male patient with Nasu-Hakola disease. ( 24309893 )
2013
23
Phosphorylated Syk expression is enhanced in Nasu-Hakola disease brains. ( 21981270 )
2012
24
Gene expression profile of THP-1 monocytes following knockdown of DAP12, a causative gene for Nasu-Hakola disease. ( 22080356 )
2012
25
Imaging findings of Nasu-Hakola disease: a case report. ( 23154029 )
2012
26
Nasu-Hakola disease with a splicing mutation of TREM2 in a Japanese family. ( 21834902 )
2011
27
A Japanese case with Nasu-Hakola disease of DAP12 gene mutation exhibiting precuneus hypoperfusion. ( 22082900 )
2011
28
Gray matter lesions in Nasu-Hakola disease: a report on three autopsy cases. ( 20880319 )
2011
29
Immunohistochemical characterization of microglia in Nasu-Hakola disease brains. ( 21118401 )
2011
30
Nasu-Hakola disease and primary microglial dysfunction. ( 20836191 )
2010
31
A novel compound heterozygous mutation in the DAP12 gene in a patient with Nasu-Hakola disease. ( 17125796 )
2007
32
Neuropsychological tests and functional nuclear neuroimaging provide evidence of subclinical impairment in Nasu-Hakola disease heterozygotes. ( 15966270 )
2005
33
Nasu-Hakola disease (polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy--PLOSL): a dementia associated with bone cystic lesions. From clinical to genetic and molecular aspects. ( 15049507 )
2004
34
Nasu-Hakola disease: a rare entity in Italy. Critical review of the literature. ( 15595711 )
2004
35
An Italian family affected by Nasu-Hakola disease with a novel genetic mutation in the TREM2 gene. ( 12754369 )
2003
36
[Nasu Hakola disease: a report of the first two cases in Bolivia]. ( 12717671 )
2003
37
Membranous lipodystrophy (Nasu-Hakola disease) presenting an unusually benign clinical course. ( 12792761 )
2003
38
Heterogeneity of presenile dementia with bone cysts (Nasu-Hakola disease): three genetic forms. ( 12370476 )
2002
39
CNS manifestations of Nasu-Hakola disease: a frontal dementia with bone cysts. ( 11402114 )
2001
40
A case of membranous lipodystrophy (Nasu-Hakola disease) with unique MRI findings. ( 8570051 )
1995
41
Membranous lipodystrophy (Nasu-Hakola disease) with thalamic degeneration: report of an autopsied case. ( 1722609 )
1991
42
Ultrastructural lipid and glycoconjugate cytochemistry of membranous lipodystrophy (Nasu-Hakola disease). ( 1871956 )
1991
43
Nasu-Hakola disease (membranous lipodystrophy). Clinical, histopathological and biochemical studies of three cases. ( 2746291 )
1989
44
Ultrastructural demonstration of Maclura pomifera agglutinin binding sites in the membranocystic lesions of membranous lipodystrophy (Nasu-Hakola disease). ( 3144083 )
1988

Variations for Polycystic Lipomembranous Osteodysplasia with Sclerosing...

UniProtKB/Swiss-Prot genetic disease variations for Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy 1:

76
# Symbol AA change Variation ID SNP ID
1 TREM2 p.Asp134Gly VAR_019334 rs28939079
2 TREM2 p.Lys186Asn VAR_019335 rs28937876

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

6 (show top 50) (show all 88)
# Gene Variation Type Significance SNP ID Assembly Location
1 TREM2 NM_018965.3(TREM2): c.197C> T (p.Thr66Met) single nucleotide variant Pathogenic rs201258663 GRCh37 Chromosome 6, 41129195: 41129195
2 TREM2 NM_018965.3(TREM2): c.197C> T (p.Thr66Met) single nucleotide variant Pathogenic rs201258663 GRCh38 Chromosome 6, 41161457: 41161457
3 TREM2 NM_018965.3(TREM2): c.113A> G (p.Tyr38Cys) single nucleotide variant Pathogenic rs797044603 GRCh37 Chromosome 6, 41129279: 41129279
4 TREM2 NM_018965.3(TREM2): c.113A> G (p.Tyr38Cys) single nucleotide variant Pathogenic rs797044603 GRCh38 Chromosome 6, 41161541: 41161541
5 TYROBP NG_009304.1: g.2160_7401del5242 deletion Pathogenic GRCh38 Chromosome 19, 35905884: 35911125
6 TYROBP NG_009304.1: g.2160_7401del5242 deletion Pathogenic GRCh37 Chromosome 19, 36396786: 36402027
7 TYROBP NM_003332.3(TYROBP): c.163G> T (p.Val55Leu) single nucleotide variant Benign/Likely benign rs77782321 GRCh37 Chromosome 19, 36398414: 36398414
8 TYROBP NM_003332.3(TYROBP): c.163G> T (p.Val55Leu) single nucleotide variant Benign/Likely benign rs77782321 GRCh38 Chromosome 19, 35907512: 35907512
9 TREM2 NM_018965.3(TREM2): c.469C> T (p.His157Tyr) single nucleotide variant Benign/Likely benign rs2234255 GRCh37 Chromosome 6, 41127543: 41127543
10 TREM2 NM_018965.3(TREM2): c.469C> T (p.His157Tyr) single nucleotide variant Benign/Likely benign rs2234255 GRCh38 Chromosome 6, 41159805: 41159805
11 TREM2 NM_018965.3(TREM2): c.233G> A (p.Trp78Ter) single nucleotide variant Pathogenic rs104893998 GRCh37 Chromosome 6, 41129159: 41129159
12 TREM2 NM_018965.3(TREM2): c.233G> A (p.Trp78Ter) single nucleotide variant Pathogenic rs104893998 GRCh38 Chromosome 6, 41161421: 41161421
13 TREM2 NM_018965.3(TREM2): c.377T> G (p.Val126Gly) single nucleotide variant Pathogenic rs121908402 GRCh37 Chromosome 6, 41129015: 41129015
14 TREM2 NM_018965.3(TREM2): c.377T> G (p.Val126Gly) single nucleotide variant Pathogenic rs121908402 GRCh38 Chromosome 6, 41161277: 41161277
15 TREM2 NM_018965.3(TREM2): c.97C> T (p.Gln33Ter) single nucleotide variant Pathogenic rs104894002 GRCh37 Chromosome 6, 41129295: 41129295
16 TREM2 NM_018965.3(TREM2): c.97C> T (p.Gln33Ter) single nucleotide variant Pathogenic rs104894002 GRCh38 Chromosome 6, 41161557: 41161557
17 TYROBP TYROBP, EX1-4DEL deletion Pathogenic
18 TYROBP TYROBP, 1-BP DEL, 141G deletion Pathogenic
19 TYROBP NM_003332.3(TYROBP): c.2T> C (p.Met1Thr) single nucleotide variant Pathogenic rs104894732 GRCh37 Chromosome 19, 36399129: 36399129
20 TYROBP NM_003332.3(TYROBP): c.2T> C (p.Met1Thr) single nucleotide variant Pathogenic rs104894732 GRCh38 Chromosome 19, 35908227: 35908227
21 TYROBP NM_003332.3(TYROBP): c.116G> A (p.Ser39Asn) single nucleotide variant Likely pathogenic rs386833839 GRCh37 Chromosome 19, 36398461: 36398461
22 TYROBP NM_003332.3(TYROBP): c.116G> A (p.Ser39Asn) single nucleotide variant Likely pathogenic rs386833839 GRCh38 Chromosome 19, 35907559: 35907559
23 TYROBP NM_003332.3(TYROBP): c.141delG (p.Met48Trpfs) deletion Pathogenic/Likely pathogenic rs386833840 GRCh37 Chromosome 19, 36398436: 36398436
24 TYROBP NM_003332.3(TYROBP): c.141delG (p.Met48Trpfs) deletion Pathogenic/Likely pathogenic rs386833840 GRCh38 Chromosome 19, 35907534: 35907534
25 TYROBP NM_003332.3(TYROBP): c.145G> C (p.Gly49Arg) single nucleotide variant Likely pathogenic rs386833841 GRCh37 Chromosome 19, 36398432: 36398432
26 TYROBP NM_003332.3(TYROBP): c.145G> C (p.Gly49Arg) single nucleotide variant Likely pathogenic rs386833841 GRCh38 Chromosome 19, 35907530: 35907530
27 TYROBP NM_003332.3(TYROBP): c.262G> T (p.Glu88Ter) single nucleotide variant Likely pathogenic rs386833842 GRCh37 Chromosome 19, 36398134: 36398134
28 TYROBP NM_003332.3(TYROBP): c.262G> T (p.Glu88Ter) single nucleotide variant Likely pathogenic rs386833842 GRCh38 Chromosome 19, 35907232: 35907232
29 TREM2 NM_018965.3(TREM2): c.269delG (p.Gly90Valfs) deletion Likely pathogenic rs386834140 GRCh37 Chromosome 6, 41129123: 41129123
30 TREM2 NM_018965.3(TREM2): c.269delG (p.Gly90Valfs) deletion Likely pathogenic rs386834140 GRCh38 Chromosome 6, 41161385: 41161385
31 TREM2 NM_018965.3(TREM2): c.313delG (p.Ala105Argfs) deletion Likely pathogenic rs386834141 GRCh37 Chromosome 6, 41129079: 41129079
32 TREM2 NM_018965.3(TREM2): c.313delG (p.Ala105Argfs) deletion Likely pathogenic rs386834141 GRCh38 Chromosome 6, 41161341: 41161341
33 TREM2 NM_018965.3(TREM2): c.40+3_40+5delAGG deletion Pathogenic/Likely pathogenic rs386834142 GRCh37 Chromosome 6, 41130776: 41130778
34 TREM2 NM_018965.3(TREM2): c.40+3_40+5delAGG deletion Pathogenic/Likely pathogenic rs386834142 GRCh38 Chromosome 6, 41163038: 41163040
35 TREM2 NM_018965.3(TREM2): c.40G> T (p.Glu14Ter) single nucleotide variant Likely pathogenic rs386834143 GRCh37 Chromosome 6, 41130781: 41130781
36 TREM2 NM_018965.3(TREM2): c.40G> T (p.Glu14Ter) single nucleotide variant Likely pathogenic rs386834143 GRCh38 Chromosome 6, 41163043: 41163043
37 TREM2 NM_018965.3(TREM2): c.482+2T> C single nucleotide variant Likely pathogenic rs386834144 GRCh37 Chromosome 6, 41127528: 41127528
38 TREM2 NM_018965.3(TREM2): c.482+2T> C single nucleotide variant Likely pathogenic rs386834144 GRCh38 Chromosome 6, 41159790: 41159790
39 TREM2 NM_018965.3(TREM2): c.*73G> A single nucleotide variant Likely benign rs2234258 GRCh37 Chromosome 6, 41126429: 41126429
40 TREM2 NM_018965.3(TREM2): c.*73G> A single nucleotide variant Likely benign rs2234258 GRCh38 Chromosome 6, 41158691: 41158691
41 TREM2 NM_018965.3(TREM2): c.399G> T (p.Leu133=) single nucleotide variant Conflicting interpretations of pathogenicity rs144250872 GRCh37 Chromosome 6, 41127613: 41127613
42 TREM2 NM_018965.3(TREM2): c.399G> T (p.Leu133=) single nucleotide variant Conflicting interpretations of pathogenicity rs144250872 GRCh38 Chromosome 6, 41159875: 41159875
43 TREM2 NM_018965.3(TREM2): c.*30G> A single nucleotide variant Likely benign rs75272959 GRCh38 Chromosome 6, 41158734: 41158734
44 TREM2 NM_018965.3(TREM2): c.*30G> A single nucleotide variant Likely benign rs75272959 GRCh37 Chromosome 6, 41126472: 41126472
45 TREM2 NM_018965.3(TREM2): c.690G> A (p.Thr230=) single nucleotide variant Uncertain significance rs199795809 GRCh38 Chromosome 6, 41158767: 41158767
46 TREM2 NM_018965.3(TREM2): c.690G> A (p.Thr230=) single nucleotide variant Uncertain significance rs199795809 GRCh37 Chromosome 6, 41126505: 41126505
47 TREM2 NM_018965.3(TREM2): c.287C> A (p.Thr96Lys) single nucleotide variant Benign/Likely benign rs2234253 GRCh38 Chromosome 6, 41161367: 41161367
48 TREM2 NM_018965.3(TREM2): c.287C> A (p.Thr96Lys) single nucleotide variant Benign/Likely benign rs2234253 GRCh37 Chromosome 6, 41129105: 41129105
49 TREM2 NM_018965.3(TREM2): c.254C> T (p.Thr85Ile) single nucleotide variant Uncertain significance rs368255898 GRCh38 Chromosome 6, 41161400: 41161400
50 TREM2 NM_018965.3(TREM2): c.254C> T (p.Thr85Ile) single nucleotide variant Uncertain significance rs368255898 GRCh37 Chromosome 6, 41129138: 41129138

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 KEGG:

38
# Name Kegg Source Accession
1 Osteoclast differentiation hsa04380

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.4 CNPY3 CSF1R IL34 MAPKAPK3 PYGL TREM1
2 11.54 CSF1R TREM2 TYROBP
3 11.05 TREM1 TREM2 TREML2 TYROBP
4 10.79 CSF1R TREM2 TYROBP

GO Terms for Polycystic Lipomembranous Osteodysplasia with Sclerosing...

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

# Name GO ID Score Top Affiliating Genes
1 regulation of immune response GO:0050776 9.46 TREM1 TREM2 TREML2 TYROBP
2 toll-like receptor signaling pathway GO:0002224 9.26 CNPY3 MAPKAPK3
3 osteoclast differentiation GO:0030316 9.13 CSF1R TREM2 TYROBP
4 innate immune response GO:0045087 9.1 CNPY3 CSF1R IL34 TREM1 TREM2 TYROBP

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 pyridoxal phosphate binding GO:0030170 8.96 ALB PYGL
2 signaling receptor activity GO:0038023 8.8 TREM1 TREM2 TREML2

Sources for Polycystic Lipomembranous Osteodysplasia with Sclerosing...

3 CDC
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10 dbSNP
11 DGIdb
17 EFO
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20 FMA
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70 SNOMED-CT via HPO
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75 UMLS via Orphanet
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