PLOSL2
MCID: PLY181
MIFTS: 23

Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy 2 (PLOSL2)

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 2:

Name: Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy 2 56 73 29 6
Plosl2 56 73

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
four clinical stages
1 - latent phase with normal development into early childhood
2 - osseous stage with joint pain and fractures in second-third decade
3 - early neurologic stage manifesting as frontal lobe syndrome
4 - late neurologic stage with profound dementia and death by age 50


Classifications:



External Ids:

OMIM 56 618193
OMIM Phenotypic Series 56 PS221770
MeSH 43 D001927
MedGen 41 CN257479

Summaries for Polycystic Lipomembranous Osteodysplasia with Sclerosing...

OMIM : 56 Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy-2 (PLOSL2), or Nasu-Hakola disease, is a recessively inherited presenile frontal dementia with leukoencephalopathy and basal ganglia calcification. In most cases the disorder first manifests in early adulthood as pain and swelling in ankles and feet, followed by bone fractures. Neurologic symptoms manifest in the fourth decade of life as a frontal lobe syndrome with loss of judgment, euphoria, and disinhibition. Progressive decline in other cognitive domains begins to develop at about the same time. The disorder culminates in a profound dementia and death by age 50 years (summary by Klunemann et al., 2005). For a discussion of genetic heterogeneity of polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy, see 221770. (618193)

MalaCards based summary : Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy 2, is also known as plosl2. An important gene associated with Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy 2 is TREM2 (Triggering Receptor Expressed On Myeloid Cells 2). Affiliated tissues include bone and brain.

UniProtKB/Swiss-Prot : 73 Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2: An autosomal recessive disease characterized by presenile frontal dementia with leukoencephalopathy and basal ganglia calcification. In most cases the disorder first manifests in early adulthood as pain and swelling in ankles and feet, followed by bone fractures. Neurologic symptoms manifest in the fourth decade of life as a frontal lobe syndrome with loss of judgment, euphoria, and disinhibition. Progressive decline in other cognitive domains begins to develop at about the same time. The disorder culminates in a profound dementia and death by age 50 years.

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

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

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
seizures
gait disturbance
myoclonus
leukoencephalopathy
aphasia
more
Neurologic Behavioral Psychiatric Manifestations:
disinhibition
euphoria
frontal lobe syndrome (onset third decade) loss of judgment

Skeletal Hands:
carpal radiolucent cysts: metacarpal radiolucent cysts
phalangeal radiolucent cysts

Skeletal:
osteopenia

Skeletal Limbs:
joint pain (onset third decade)
pathologic fractures (onset third decade)
long bone metaphyseal radiolucent cysts

Skeletal Feet:
tarsal radiolucent cysts

Clinical features from OMIM:

618193

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

Search Clinical Trials , NIH Clinical Center for Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy 2

Genetic Tests for Polycystic Lipomembranous Osteodysplasia with Sclerosing...

Genetic tests related to Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy 2:

# Genetic test Affiliating Genes
1 Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy 2 29 TREM2

Anatomical Context for Polycystic Lipomembranous Osteodysplasia with Sclerosing...

MalaCards organs/tissues related to Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy 2:

40
Bone, Brain

Publications for Polycystic Lipomembranous Osteodysplasia with Sclerosing...

Articles related to Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy 2:

# Title Authors PMID Year
1
The genetic causes of basal ganglia calcification, dementia, and bone cysts: DAP12 and TREM2. 6 56
15883308 2005
2
Mutations in two genes encoding different subunits of a receptor signaling complex result in an identical disease phenotype. 6 56
12080485 2002
3
Lipomembranous polycystic osteodysplasia (brain, bone, and fat disease): a genetic cause of presenile dementia. 56 6
6681564 1983
4
CNS manifestations of Nasu-Hakola disease: a frontal dementia with bone cysts. 56
11402114 2001

Variations for Polycystic Lipomembranous Osteodysplasia with Sclerosing...

ClinVar genetic disease variations for Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy 2:

6 (show all 28) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 TREM2 TREM2, IVS3DS, T-C, +2SNV Pathogenic 5216
2 TREM2 NM_018965.3(TREM2):c.97C>T (p.Gln33Ter)SNV Pathogenic 5219 rs104894002 6:41129295-41129295 6:41161557-41161557
3 TREM2 NM_018965.3(TREM2):c.40G>T (p.Glu14Ter)SNV Pathogenic 56724 rs386834143 6:41130781-41130781 6:41163043-41163043
4 TREM2 NM_018965.3(TREM2):c.132G>A (p.Trp44Ter)SNV Likely pathogenic 5217 rs104894001 6:41129260-41129260 6:41161522-41161522
5 TREM2 NM_018965.3(TREM2):c.377T>G (p.Val126Gly)SNV Likely pathogenic 5218 rs121908402 6:41129015-41129015 6:41161277-41161277
6 TREM2 NM_018965.3(TREM2):c.233G>A (p.Trp78Ter)SNV Likely pathogenic 5213 rs104893998 6:41129159-41129159 6:41161421-41161421
7 TREM2 NM_018965.3(TREM2):c.259G>A (p.Asp87Asn)SNV Conflicting interpretations of pathogenicity 261064 rs142232675 6:41129133-41129133 6:41161395-41161395
8 TREM2 NM_018965.3(TREM2):c.399G>T (p.Leu133=)SNV Conflicting interpretations of pathogenicity 290058 rs144250872 6:41127613-41127613 6:41159875-41159875
9 TREM2 NM_018965.3(TREM2):c.690G>A (p.Thr230=)SNV Uncertain significance 356675 rs199795809 6:41126505-41126505 6:41158767-41158767
10 TREM2 NM_018965.3(TREM2):c.254C>T (p.Thr85Ile)SNV Uncertain significance 356679 rs368255898 6:41129138-41129138 6:41161400-41161400
11 TREM2 NM_018965.3(TREM2):c.115G>A (p.Asp39Asn)SNV Uncertain significance 356680 rs764816591 6:41129277-41129277 6:41161539-41161539
12 TREM2 NM_018965.3(TREM2):c.-51G>ASNV Uncertain significance 356682 rs3747741 6:41130871-41130871 6:41163133-41163133
13 TREM2 NM_018965.3(TREM2):c.393C>T (p.Asp131=)SNV Uncertain significance 356677 rs139607688 6:41127619-41127619 6:41159881-41159881
14 TREM2 NM_018965.3(TREM2):c.40+13C>TSNV Uncertain significance 356681 rs145658858 6:41130768-41130768 6:41163030-41163030
15 TREM2 NM_018965.3(TREM2):c.558G>T (p.Lys186Asn)SNV Uncertain significance 5214 rs28937876 6:41126729-41126729 6:41158991-41158991
16 TREM2 NM_018965.3(TREM2):c.401A>G (p.Asp134Gly)SNV Uncertain significance 5215 rs28939079 6:41127611-41127611 6:41159873-41159873
17 TREM2 NM_018965.4(TREM2):c.*157G>ASNV Uncertain significance 906351 6:41126345-41126345 6:41158607-41158607
18 TREM2 NM_018965.4(TREM2):c.*156G>TSNV Uncertain significance 907354 6:41126346-41126346 6:41158608-41158608
19 TREM2 NM_018965.4(TREM2):c.*148C>TSNV Uncertain significance 907355 6:41126354-41126354 6:41158616-41158616
20 TREM2 NM_018965.4(TREM2):c.574G>A (p.Ala192Thr)SNV Uncertain significance 904021 6:41126713-41126713 6:41158975-41158975
21 TREM2 NM_018965.4(TREM2):c.117C>G (p.Asp39Glu)SNV Uncertain significance 905893 6:41129275-41129275 6:41161537-41161537
22 TREM2 NC_000006.12:g.41163180G>ASNV Uncertain significance 906413 6:41130918-41130918 6:41163180-41163180
23 TREM2 NM_018965.4(TREM2):c.482+7C>TSNV Uncertain significance 904022 6:41127523-41127523 6:41159785-41159785
24 TREM2 NM_018965.4(TREM2):c.*48A>TSNV Likely benign 907356 6:41126454-41126454 6:41158716-41158716
25 TREM2 NM_018965.3(TREM2):c.469C>T (p.His157Tyr)SNV Benign/Likely benign 196494 rs2234255 6:41127543-41127543 6:41159805-41159805
26 TREM2 NM_018965.3(TREM2):c.*73G>ASNV Benign/Likely benign 235387 rs2234258 6:41126429-41126429 6:41158691-41158691
27 TREM2 NM_018965.4(TREM2):c.668C>T (p.Thr223Ile)SNV Benign/Likely benign 714394 6:41126619-41126619 6:41158881-41158881
28 TREM2 NM_018965.3(TREM2):c.*30G>ASNV Benign 356674 rs75272959 6:41126472-41126472 6:41158734-41158734

UniProtKB/Swiss-Prot genetic disease variations for Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy 2:

73
# Symbol AA change Variation ID SNP ID
1 TREM2 p.Val126Gly VAR_081680 rs121908402

Expression for Polycystic Lipomembranous Osteodysplasia with Sclerosing...

Search GEO for disease gene expression data for Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy 2.

Pathways for Polycystic Lipomembranous Osteodysplasia with Sclerosing...

GO Terms for Polycystic Lipomembranous Osteodysplasia with Sclerosing...

Sources for Polycystic Lipomembranous Osteodysplasia with Sclerosing...

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