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PLOSL2
MCID: PLY181
MIFTS: 23
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Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy 2 (PLOSL2)
Categories:
Bone diseases, Fetal diseases, Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases
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MalaCards integrated aliases for Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy 2: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:
MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Anatomical: Neuronal diseases Bone diseases Mental diseases |
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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. |
Diseases in the Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy 1 family:
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Symptoms via clinical synopsis from OMIM:56Clinical features from OMIM:618193 |
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MalaCards organs/tissues related to Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy 2:40
Bone,
Brain
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Articles related to Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy 2:
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Genes related to Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy 2 (1 elite genes): - Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy 2:6 (show all 28)
UniProtKB/Swiss-Prot genetic disease variations for Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy 2:73
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Search
GEO
for disease gene expression data for Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy 2.
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