Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2

Preferred Label : Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2;

Symbol : PLOSL2;

CISMeF acronym : PLOSL2;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the triggering receptor expressed on myeloid cells 2 gene (TREM2, 605086.0001);

Prefixed ID : #618193;

Details

Origin ID

618193;

UMLS CUI

C4748657;

Genes related to phenotype
- Triggering receptor expressed on myeloid cells 2 [OMIM gene]
HPO term(s)
- Agnosia [HPO term]
- Aphasia [HPO term]
- Apraxia [HPO term]
- Arthralgia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Babinski sign [HPO term]
- Basal ganglia calcification [HPO term]
- Bone cyst [HPO term]
- CNS demyelination [HPO term]
- Caudate atrophy [HPO term]
- Cerebral cortical atrophy [HPO term]
- Dementia [HPO term]
- Disinhibition [HPO term]
- EEG abnormality [HPO term]
- Gait disturbance [HPO term]
- Hypoplasia of the corpus callosum [HPO term]
- Leukoencephalopathy [HPO term]
- Memory impairment [HPO term]
- Myoclonus [HPO term]
- Osteopenia [HPO term]
- Pathologic fracture [HPO term]
- Primitive reflex [HPO term]
- Seizure [HPO term]
- T2 hypointense thalamus [HPO term]
ORDO concept(s)
- Nasu-Hakola disease [ORDO Disease]
See also inter- (CISMeF)
- Nasu-Hakola disease [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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