Genopathy
Gene-Disorder Association · Article
Gene
TYROBP
Transmembrane Immune Signaling Adaptor TYROBP
Disorder
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
First reported 1998
Supporting publications 12
Key publication · gene–disorder Fine-scale mapping of a novel dementia gene, PLOSL, by linkage disequilibrium.Genomics · 1998
Key publication · disorder Neuropsychiatric and genetic aspects of a new hereditary disease characterized by progressive dementia and lipomembranous polycystic osteodysplasia.Acta psychiatrica Scandinavica. Supplementum · 1972
Manually curated
Association Review

In brief

The association between TYROBP (Transmembrane Immune Signaling Adaptor TYROBP) and Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1 is well established and manually curated, with its 4 contributing sources — 3 of them expert-curated — recording a known molecular basis, pathogenic variants, and a causative germline mutation.

Sources 4
Clinical variants 25
Symptoms 77
Compounds 0
Trials 0
Publications 12
01
At a glance

Association overview

A cited synthesis of the gene–disorder association, with a clinical-actionability summary where the evidence supports one.

Request access
02
Provenance

Evidence and sources

4 sources

Every contributing database and publication behind this association, with evidence type, strength, accessions and deep links.

Request access
03
TYROBP

The gene

1 source summary

A gene summary alongside the source descriptions it was distilled from.

Request access
04
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1

The disorder

13 database identifiers

The disorder’s summary, prevalence, aliases and cross-reference identifiers (OMIM, Orphanet, MONDO, ICD-10, MedGen).

Request access
05
Phenotype

Clinical features

53 clinical features

The disorder’s clinical features (HPO) grouped by body system, each with observed frequency and penetrance.

Request access
06
ClinVar and variant evidence

Genetic basis

25 clinical variants

ClinVar variants reported for this pair, with disorder-specific significance, review status, molecular consequence and origin.

Request access
07
Mechanism overlap

Shared mechanisms

Biological pathways and phenotype concepts shared by the gene and the disorder, with supporting publications.

Request access
08
Literature

Reading

12 publications

Publications linking the gene and the disorder, with title, authors, journal, year and citation metrics.

Request access
09
Provenance

References & sources

16 references

Every source and publication cited across this dossier, as one numbered reference list.

Request access