Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy(Nasu-Hakola disease) Explore Disorder's Alias
An Autosomal recessive mode(s) within the Bone disorders category
Candidate Gene Information
An Autosomal recessive mode(s) within the Bone disorders category
Reported Pathogenic variants
| S.No. | Name/GeneID | Description | Cytogentic Band | Gene Location on genomic DNA | Gene Length | Exons | Details | Gene Cross-References |
| 1 | TREM2/54209 | triggering receptor expressed on myeloid cells 2 | 6p21.1 | Chr6, NC_000006.12 (41158508..41163116, complement) |
4609 nt | 5 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 2 | TYROBP/7305 | transmembrane immune signaling adaptor TYROBP | 19q13.12 | Chr19, NC_000019.10 (35904403..35908295, complement) |
3893 nt | 5 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| Variant Information | ||||||||
| Disorder Cross-References: GARD GTR MalaCards NORD | ||||||||
Patient care services
Clinical Symptoms & Disabilities
Prevalence
| Under development |