Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1

Preferred Label : Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1;

Symbol : PLOSL1;

CISMeF acronym : NHD; PLOSL; PLOSL1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Dementia, prefrontal, with bone cysts; Brain-bone-fat disease; Dementia, progressive, with lipomembranous polycystic osteodysplasia; Nasu-hakola disease; NHD; Presenile dementia with bone cysts; PLOSL;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutations in the protein tyrosine kinase-binding protein gene (TYROBP, 604142.0001); Caused by mutations in the triggering receptor expressed on myeloid cells-2 gene (TREM2, 605086.0001);

Prefixed ID : #221770;

Details

Origin ID

221770;

UMLS CUI

C4721893;

Automatic exact mappings (from CISMeF team)
- Membranous lipodystrophy [PASCAL descriptor]
- TYROBP wt Allele [NCIt concept]
- transmembrane immune signaling adaptor TYROBP [ORDO Gene]
Currated CISMeF NLP mapping
- Nasu-Hakola disease [PASCAL descriptor]
- Nasu-Hakola disease [DO Concept]
- Nasu-Hakola disease [ORDO Disease]
- Polycystic lipomembranous osteodysplasia - sclerosing leukoencephalopathy [ICD-11 More detail]
- Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy [MeSH concept]
- Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (disorder) [SNOMED CT concept]
- polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy [MeSH Supplementary Concept]
DO Cross reference
- Nasu-Hakola disease [DO Concept]
Genes related to phenotype
- Tyro protein tyrosine kinase-binding protein [OMIM gene]
HPO term(s)
- Abnormal foot morphology [HPO term]
- Abnormal upper motor neuron morphology [HPO term]
- Abnormality of the hand [HPO term]
- Aggressive behavior [HPO term]
- Agnosia [HPO term]
- Apraxia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Axonal loss [HPO term]
- Babinski sign [HPO term]
- Basal ganglia calcification [HPO term]
- Bone cyst [HPO term]
- Caudate atrophy [HPO term]
- Cerebral atrophy [HPO term]
- Dementia, presenile, progressive, beginning around age 30 years [HPO term]
- Disinhibition [HPO term]
- EEG abnormality [HPO term]
- Euphoria [HPO term]
- Frontal lobe dementia [HPO term]
- Gait disturbance [HPO term]
- Gliosis [HPO term]
- Hypoplasia of the corpus callosum [HPO term]
- Inappropriate behavior [HPO term]
- Lack of insight [HPO term]
- Leukoencephalopathy [HPO term]
- Memory impairment [HPO term]
- Memory loss [HPO term]
- Myoclonus [HPO term]
- Neurological speech impairment [HPO term]
- Pathologic fracture [HPO term]
- Peripheral demyelination [HPO term]
- Personality changes [HPO term]
- Primitive reflex [HPO term]
- Seizure [HPO term]
- Severe demyelination [HPO term]
- Spasticity [HPO term]
- Thin corpus callosum [HPO term]
- Urinary incontinence [HPO term]
ORDO concept(s)
- Nasu-Hakola disease [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Nasu-Hakola disease [ORDO Disease]
- Nasu-Hakola disease [DO Concept]
- Nasu-Hakola disease [PASCAL descriptor]
- Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy [MeSH concept]
- Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (disorder) [SNOMED CT concept]
- polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy [MeSH Supplementary Concept]

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