MCID: PLY082
MIFTS: 42

Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy

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

Aliases & Classifications for Polycystic Lipomembranous Osteodysplasia with Sclerosing...

MalaCards integrated aliases for Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy:

Name: Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy 57 12 24 53 25 59 75 29 29 6 44 40 73
Nasu-Hakola Disease 57 12 24 53 25 59 75 37 13 55
Plosl 57 12 53 25 59 75
Nhd 57 12 53 25 59 75
Presenile Dementia with Bone Cysts 57 12 53 25 75
Plo-Sl 12 25 59
Dementia, Progressive, with Lipomembranous Polycystic Osteodysplasia 57 53
Dementia, Prefrontal, with Bone Cysts 57 53
Brain-Bone-Fat Disease 57 53
Progressive Dementia with Lipomembranous Polycystic Osteodysplasia; Brain-Bone-Fat Disease 12
Nasu-Hakola Disease; Nhd 57

Characteristics:

Orphanet epidemiological data:

59
nasu-hakola disease
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Finland); Age of onset: Adolescent,Adult; Age of death: adult;

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Polycystic Lipomembranous Osteodysplasia with Sclerosing...

NIH Rare Diseases : 53 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, also known as nasu-hakola disease, is related to dementia and osteoarthritis with mild chondrodysplasia, and has symptoms including muscle spasticity, myoclonus and seizures. An important gene associated with Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy is TREM2 (Triggering Receptor Expressed On Myeloid Cells 2), and among its related pathways/superpathways are Osteoclast differentiation and Class I MHC mediated antigen processing and presentation. Affiliated tissues include bone, brain and testes, and related phenotypes are abnormality of epiphysis morphology and hydrocephalus

UniProtKB/Swiss-Prot : 75 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.

Genetics Home Reference : 25 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.

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.

Description from OMIM: 221770
GeneReviews: NBK1197

Related Diseases for Polycystic Lipomembranous Osteodysplasia with Sclerosing...

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

# Related Disease Score Top Affiliating Genes
1 dementia 29.8 TREM2 TYROBP
2 osteoarthritis with mild chondrodysplasia 11.2
3 cerebritis 10.3

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

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy:

59 32 (show all 50)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of epiphysis morphology 59 32 hallmark (90%) Very frequent (99-80%) HP:0005930
2 hydrocephalus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000238
3 seizures 59 32 frequent (33%) Frequent (79-30%) HP:0001250
4 spasticity 59 32 frequent (33%) Frequent (79-30%) HP:0001257
5 chorea 59 32 frequent (33%) Frequent (79-30%) HP:0002072
6 neurological speech impairment 59 32 frequent (33%) Frequent (79-30%) HP:0002167
7 developmental regression 59 32 hallmark (90%) Very frequent (99-80%) HP:0002376
8 cerebral calcification 59 32 frequent (33%) Frequent (79-30%) HP:0002514
9 skeletal dysplasia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002652
10 arthralgia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002829
11 irritability 59 32 hallmark (90%) Very frequent (99-80%) HP:0000737
12 limitation of joint mobility 59 32 hallmark (90%) Very frequent (99-80%) HP:0001376
13 reduced bone mineral density 59 32 hallmark (90%) Very frequent (99-80%) HP:0004349
14 ventriculomegaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0002119
15 cerebral cortical atrophy 59 32 hallmark (90%) Very frequent (99-80%) HP:0002120
16 memory impairment 59 32 hallmark (90%) Very frequent (99-80%) HP:0002354
17 bone pain 59 32 hallmark (90%) Very frequent (99-80%) HP:0002653
18 acute leukemia 59 32 occasional (7.5%) Occasional (29-5%) HP:0002488
19 bone cyst 59 32 hallmark (90%) Very frequent (99-80%) HP:0012062
20 oculomotor apraxia 59 32 frequent (33%) Frequent (79-30%) HP:0000657
21 disinhibition 59 32 hallmark (90%) Very frequent (99-80%) HP:0000734
22 personality changes 59 32 hallmark (90%) Very frequent (99-80%) HP:0000751
23 functional abnormality of the gastrointestinal tract 59 32 occasional (7.5%) Occasional (29-5%) HP:0012719
24 frontal lobe dementia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000727
25 agnosia 59 32 frequent (33%) Frequent (79-30%) HP:0010524
26 gait disturbance 32 HP:0001288
27 eeg abnormality 32 HP:0002353
28 behavioral abnormality 59 Very frequent (99-80%)
29 abnormality of movement 59 Frequent (79-30%)
30 pathologic fracture 32 HP:0002756
31 myoclonus 32 HP:0001336
32 babinski sign 32 HP:0003487
33 abnormality of the foot 32 HP:0001760
34 apraxia 32 HP:0002186
35 aggressive behavior 32 HP:0000718
36 abnormality of the hand 32 HP:0001155
37 urinary incontinence 32 HP:0000020
38 hypoplasia of the corpus callosum 32 HP:0002079
39 peripheral demyelination 32 HP:0011096
40 cerebral atrophy 32 HP:0002059
41 abnormality of adipose tissue 59 Very frequent (99-80%)
42 gliosis 32 HP:0002171
43 axonal loss 32 HP:0003447
44 abnormal upper motor neuron morphology 32 HP:0002127
45 lack of insight 32 HP:0000757
46 caudate atrophy 32 HP:0002340
47 leukoencephalopathy 32 HP:0002352
48 primitive reflex 32 HP:0002476
49 basal ganglia calcification 32 HP:0002135
50 abnormal adipose tissue morphology 32 hallmark (90%) HP:0009124

UMLS symptoms related to Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy:


muscle spasticity, myoclonus, seizures, personality changes, 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

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:

# Genetic test Affiliating Genes
1 Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy 29 TREM2 TYROBP
2 Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy (plosl) 29

Anatomical Context for Polycystic Lipomembranous Osteodysplasia with Sclerosing...

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

41
Bone, Brain, Testes, Myeloid

Publications for Polycystic Lipomembranous Osteodysplasia with Sclerosing...

Articles related to Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy:

(show all 15)
# Title Authors Year
1
Nasu-Hakola disease (polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy): First report from India. ( 29547188 )
2018
2
Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy (PLOSL): a new report of an Italian woman and review of the literature. ( 23399524 )
2013
3
Word list learning in patients with polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy. ( 23569454 )
2013
4
Rorschach assessment of personality functioning in patients with polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy. ( 25286817 )
2012
5
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
6
Distribution and signaling of TREM2/DAP12, the receptor system mutated in human polycystic lipomembraneous osteodysplasia with sclerosing leukoencephalopathy dementia. ( 15548205 )
2004
7
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLO-SL): a genealogical study of Swedish families of probable Finnish background. ( 9007323 )
1996
8
Vascular changes and blood-brain barrier damage in the pathogenesis of polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (membranous lipodystrophy). ( 8085433 )
1994
9
Neuropsychiatric and brain CT findings in polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy. ( 8296538 )
1993
10
Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy (PLOSL) ( 20301376 )
1993
11
Psychosocial reactions in the spouses of patients suffering polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy. ( 2295586 )
1990
12
Ocular findings in polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy. ( 2773643 )
1989
13
Bone scintigraphy in polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy. ( 3217063 )
1988
14
Cerebral MR and CT imaging in polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy. ( 6470263 )
1984
15
Radiologic bone changes of polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy. ( 7079784 )
1982

Variations for Polycystic Lipomembranous Osteodysplasia with Sclerosing...

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

75
# 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:

6
(show top 50) (show all 94)
# Gene Variation Type Significance SNP ID Assembly Location
1 TREM2 NM_018965.3(TREM2): c.233G> A (p.Trp78Ter) single nucleotide variant Pathogenic rs104893998 GRCh37 Chromosome 6, 41129159: 41129159
2 TREM2 NM_018965.3(TREM2): c.233G> A (p.Trp78Ter) single nucleotide variant Pathogenic rs104893998 GRCh38 Chromosome 6, 41161421: 41161421
3 TREM2 NM_018965.3(TREM2): c.558G> T (p.Lys186Asn) single nucleotide variant Pathogenic rs28937876 GRCh37 Chromosome 6, 41126729: 41126729
4 TREM2 NM_018965.3(TREM2): c.558G> T (p.Lys186Asn) single nucleotide variant Pathogenic rs28937876 GRCh38 Chromosome 6, 41158991: 41158991
5 TREM2 NM_018965.3(TREM2): c.401A> G (p.Asp134Gly) single nucleotide variant Pathogenic rs28939079 GRCh37 Chromosome 6, 41127611: 41127611
6 TREM2 NM_018965.3(TREM2): c.401A> G (p.Asp134Gly) single nucleotide variant Pathogenic rs28939079 GRCh38 Chromosome 6, 41159873: 41159873
7 TREM2 TREM2, IVS3, T-C, +2 single nucleotide variant Pathogenic
8 TREM2 NM_018965.3(TREM2): c.132G> A (p.Trp44Ter) single nucleotide variant Pathogenic rs104894001 GRCh37 Chromosome 6, 41129260: 41129260
9 TREM2 NM_018965.3(TREM2): c.132G> A (p.Trp44Ter) single nucleotide variant Pathogenic rs104894001 GRCh38 Chromosome 6, 41161522: 41161522
10 TREM2 NM_018965.3(TREM2): c.377T> G (p.Val126Gly) single nucleotide variant Pathogenic rs121908402 GRCh37 Chromosome 6, 41129015: 41129015
11 TREM2 NM_018965.3(TREM2): c.377T> G (p.Val126Gly) single nucleotide variant Pathogenic rs121908402 GRCh38 Chromosome 6, 41161277: 41161277
12 TREM2 NM_018965.3(TREM2): c.97C> T (p.Gln33Ter) single nucleotide variant Pathogenic rs104894002 GRCh37 Chromosome 6, 41129295: 41129295
13 TREM2 NM_018965.3(TREM2): c.97C> T (p.Gln33Ter) single nucleotide variant Pathogenic rs104894002 GRCh38 Chromosome 6, 41161557: 41161557
14 TYROBP TYROBP, EX1-4DEL deletion Pathogenic
15 TYROBP TYROBP, 1-BP DEL, 141G deletion Pathogenic
16 TYROBP NM_003332.3(TYROBP): c.2T> C (p.Met1Thr) single nucleotide variant Pathogenic rs104894732 GRCh37 Chromosome 19, 36399129: 36399129
17 TYROBP NM_003332.3(TYROBP): c.2T> C (p.Met1Thr) single nucleotide variant Pathogenic rs104894732 GRCh38 Chromosome 19, 35908227: 35908227
18 TYROBP NM_003332.3(TYROBP): c.116G> A (p.Ser39Asn) single nucleotide variant Likely pathogenic rs386833839 GRCh37 Chromosome 19, 36398461: 36398461
19 TYROBP NM_003332.3(TYROBP): c.116G> A (p.Ser39Asn) single nucleotide variant Likely pathogenic rs386833839 GRCh38 Chromosome 19, 35907559: 35907559
20 TYROBP NM_003332.3(TYROBP): c.141delG (p.Met48Trpfs) deletion Pathogenic/Likely pathogenic rs386833840 GRCh37 Chromosome 19, 36398436: 36398436
21 TYROBP NM_003332.3(TYROBP): c.141delG (p.Met48Trpfs) deletion Pathogenic/Likely pathogenic rs386833840 GRCh38 Chromosome 19, 35907534: 35907534
22 TYROBP NM_003332.3(TYROBP): c.145G> C (p.Gly49Arg) single nucleotide variant Likely pathogenic rs386833841 GRCh37 Chromosome 19, 36398432: 36398432
23 TYROBP NM_003332.3(TYROBP): c.145G> C (p.Gly49Arg) single nucleotide variant Likely pathogenic rs386833841 GRCh38 Chromosome 19, 35907530: 35907530
24 TYROBP NM_003332.3(TYROBP): c.262G> T (p.Glu88Ter) single nucleotide variant Likely pathogenic rs386833842 GRCh37 Chromosome 19, 36398134: 36398134
25 TYROBP NM_003332.3(TYROBP): c.262G> T (p.Glu88Ter) single nucleotide variant Likely pathogenic rs386833842 GRCh38 Chromosome 19, 35907232: 35907232
26 TREM2 NM_018965.3(TREM2): c.269delG (p.Gly90Valfs) deletion Likely pathogenic rs386834140 GRCh37 Chromosome 6, 41129123: 41129123
27 TREM2 NM_018965.3(TREM2): c.269delG (p.Gly90Valfs) deletion Likely pathogenic rs386834140 GRCh38 Chromosome 6, 41161385: 41161385
28 TREM2 NM_018965.3(TREM2): c.313delG (p.Ala105Argfs) deletion Likely pathogenic rs386834141 GRCh37 Chromosome 6, 41129079: 41129079
29 TREM2 NM_018965.3(TREM2): c.313delG (p.Ala105Argfs) deletion Likely pathogenic rs386834141 GRCh38 Chromosome 6, 41161341: 41161341
30 TREM2 NM_018965.3(TREM2): c.40+3_40+5delAGG deletion Pathogenic/Likely pathogenic rs386834142 GRCh37 Chromosome 6, 41130776: 41130778
31 TREM2 NM_018965.3(TREM2): c.40+3_40+5delAGG deletion Pathogenic/Likely pathogenic rs386834142 GRCh38 Chromosome 6, 41163038: 41163040
32 TREM2 NM_018965.3(TREM2): c.40G> T (p.Glu14Ter) single nucleotide variant Likely pathogenic rs386834143 GRCh37 Chromosome 6, 41130781: 41130781
33 TREM2 NM_018965.3(TREM2): c.40G> T (p.Glu14Ter) single nucleotide variant Likely pathogenic rs386834143 GRCh38 Chromosome 6, 41163043: 41163043
34 TREM2 NM_018965.3(TREM2): c.482+2T> C single nucleotide variant Likely pathogenic rs386834144 GRCh37 Chromosome 6, 41127528: 41127528
35 TREM2 NM_018965.3(TREM2): c.482+2T> C single nucleotide variant Likely pathogenic rs386834144 GRCh38 Chromosome 6, 41159790: 41159790
36 TREM2 NM_018965.3(TREM2): c.197C> T (p.Thr66Met) single nucleotide variant Pathogenic rs201258663 GRCh37 Chromosome 6, 41129195: 41129195
37 TREM2 NM_018965.3(TREM2): c.197C> T (p.Thr66Met) single nucleotide variant Pathogenic rs201258663 GRCh38 Chromosome 6, 41161457: 41161457
38 TREM2 NM_018965.3(TREM2): c.113A> G (p.Tyr38Cys) single nucleotide variant Pathogenic rs797044603 GRCh37 Chromosome 6, 41129279: 41129279
39 TREM2 NM_018965.3(TREM2): c.113A> G (p.Tyr38Cys) single nucleotide variant Pathogenic rs797044603 GRCh38 Chromosome 6, 41161541: 41161541
40 TYROBP NG_009304.1: g.2160_7401del5242 deletion Pathogenic GRCh38 Chromosome 19, 35905884: 35911125
41 TYROBP NM_003332.3(TYROBP): c.163G> T (p.Val55Leu) single nucleotide variant Benign/Likely benign rs77782321 GRCh37 Chromosome 19, 36398414: 36398414
42 TYROBP NM_003332.3(TYROBP): c.163G> T (p.Val55Leu) single nucleotide variant Benign/Likely benign rs77782321 GRCh38 Chromosome 19, 35907512: 35907512
43 TREM2 NM_018965.3(TREM2): c.469C> T (p.His157Tyr) single nucleotide variant Benign/Likely benign rs2234255 GRCh37 Chromosome 6, 41127543: 41127543
44 TREM2 NM_018965.3(TREM2): c.469C> T (p.His157Tyr) single nucleotide variant Benign/Likely benign rs2234255 GRCh38 Chromosome 6, 41159805: 41159805
45 TREM2 NM_018965.3(TREM2): c.*73G> A single nucleotide variant Likely benign rs2234258 GRCh37 Chromosome 6, 41126429: 41126429
46 TREM2 NM_018965.3(TREM2): c.*73G> A single nucleotide variant Likely benign rs2234258 GRCh38 Chromosome 6, 41158691: 41158691
47 TREM2 NM_018965.3(TREM2): c.399G> T (p.Leu133=) single nucleotide variant Conflicting interpretations of pathogenicity rs144250872 GRCh37 Chromosome 6, 41127613: 41127613
48 TREM2 NM_018965.3(TREM2): c.399G> T (p.Leu133=) single nucleotide variant Conflicting interpretations of pathogenicity rs144250872 GRCh38 Chromosome 6, 41159875: 41159875
49 TREM2 NM_018965.3(TREM2): c.*30G> A single nucleotide variant Likely benign rs75272959 GRCh37 Chromosome 6, 41126472: 41126472
50 TREM2 NM_018965.3(TREM2): c.*30G> A single nucleotide variant Likely benign rs75272959 GRCh38 Chromosome 6, 41158734: 41158734

Expression for Polycystic Lipomembranous Osteodysplasia with Sclerosing...

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

Pathways for Polycystic Lipomembranous Osteodysplasia with Sclerosing...

Pathways related to Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy according to KEGG:

37
# Name Kegg Source Accession
1 Osteoclast differentiation hsa04380

GO Terms for Polycystic Lipomembranous Osteodysplasia with Sclerosing...

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

# Name GO ID Score Top Affiliating Genes
1 cell surface GO:0009986 8.8 HCST TREML1 TYROBP

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

# Name GO ID Score Top Affiliating Genes
1 innate immune response GO:0045087 9.33 TREM2 TREML1 TYROBP
2 osteoclast differentiation GO:0030316 8.96 TREM2 TYROBP
3 regulation of immune response GO:0050776 8.92 HCST TREM2 TREML1 TYROBP

Sources for Polycystic Lipomembranous Osteodysplasia with Sclerosing...

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