PLOSL2
MCID: PLY181
MIFTS: 15

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 58 76 6
Plosl2 58 76

Classifications:



External Ids:

OMIM 58 618193
MeSH 45 D001927
MedGen 43 CN257479

Summaries for Polycystic Lipomembranous Osteodysplasia with Sclerosing...

OMIM : 58 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 : 76 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...

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...

Anatomical Context for Polycystic Lipomembranous Osteodysplasia with Sclerosing...

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

42
Bone, Brain

Publications for Polycystic Lipomembranous Osteodysplasia with Sclerosing...

Articles related to Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy 2:

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

Variations for Polycystic Lipomembranous Osteodysplasia with Sclerosing...

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

76
# Symbol AA change Variation ID SNP ID
1 TREM2 p.Val126Gly VAR_081680

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

6 (show all 13)
# 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, IVS3DS, 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

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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