Talo-patello-scaphoid osteolysis
diseaseOn this page
Also known as singh-Williams-McAlister syndrome
Summary
Talo-patello-scaphoid osteolysis (MONDO:0012330) is a disease. A subtype of primary osteolysis — broader associated-gene and molecular evidence is on the parent page (see Disease family below).
At a glance
- Prevalence: <1 / 1 000 000 (Worldwide) [Orphanet-validated]
- Phenotypes (HPO): 6
Clinical features
Epidemiology
Prevalence records
2 prevalence record(s), Orphanet:
| Type | Class | Value | Geography | Validation |
|---|---|---|---|---|
| Cases/families | 2 | Worldwide | Validated | |
| Point prevalence | <1 / 1 000 000 | Worldwide | Validated |
Signs & symptoms
Clinical features (HPO)
6 HPO clinical features (Orphanet curated; top 6 by frequency):
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0003037 | Enlarged joints | Very frequent (80-99%) |
| HP:0006202 | Osteolysis of scaphoids | Very frequent (80-99%) |
| HP:0006378 | Osteolysis of patellae | Very frequent (80-99%) |
| HP:0008095 | Osteolysis of talus | Very frequent (80-99%) |
| HP:0010044 | Short 4th metacarpal | Very frequent (80-99%) |
| HP:0100769 | Synovitis | Very frequent (80-99%) |
Identifiers
Disease identifiers
| Field | Value |
|---|---|
| Canonical name | talo-patello-scaphoid osteolysis |
| Mondo ID | MONDO:0012330 |
| MeSH | C536894 |
| OMIM | 609655 |
| Orphanet | 50809 |
| ICD-11 | 1276091756 |
| UMLS | C1864784 |
| MedGen | 400611 |
| GARD | 0010061 |
| Is cancer (heuristic) | no |
Also known as: singh-Williams-McAlister syndrome
Disease family
This is a subtype of primary osteolysis. Genetic, therapeutic, and trial evidence is largely curated at the broader-term level — see the parent page for the associated-gene cohort and molecular evidence.
Classification path: disease › human disease › disease by etiologic mechanism › disease of genetic or genomic mechanism › hereditary disease › skeletal dysplasia › primary osteolysis › talo-patello-scaphoid osteolysis
Related subtypes (13): acroosteolysis, multicentric carpo-tarsal osteolysis with or without nephropathy, pacman dysplasia, familial expansile osteolysis, Hutchinson-Gilford progeria syndrome, polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly, hyaline fibromatosis syndrome, autosomal recessive distal osteolysis syndrome, Paget disease of bone 2, early-onset, Nestor-Guillermo progeria syndrome, mandibuloacral dysplasia, phalangeal microgeodic syndrome, multicentric osteolysis-nodulosis-arthropathy spectrum
Genetics & variants
GWAS landscape
No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.
Variant details and genetic-evidence tiers
No tiered GWAS variants or ClinVar records for this disease.
Genes & proteins
No associated-gene cohort resolved for this disease. Atlas builds the molecular and therapeutic sections — associated genes, protein families, druggability, pathways, interactions, and drug associations — by aggregating over a disease’s associated genes (resolved via GWAS / GenCC / ClinVar / CIViC), and none resolved here. This is expected for antibody-mediated, autoimmune, or otherwise non-gene-defined conditions; the curated evidence for this disease is its clinical features, GWAS susceptibility, and clinical trials (above).
Function
No pathway enrichment — requires an associated-gene cohort.
Therapeutics
No druggable-target or therapeutic data for this disease’s cohort.
Clinical trials & evidence
Clinical trials
Clinical trials: 0.
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.