Osteopathia striata-pigmentary dermopathy-white forelock syndrome
diseaseOn this page
Also known as osteopathia striata associated with familial dermopathy and white forelockosteopathia striata with pigmentary dermopathy including white forelockWhyte Murphy syndromeWhyte-Murphy syndrome
Summary
Osteopathia striata-pigmentary dermopathy-white forelock syndrome (MONDO:0017197) is a disease. A subtype of hyperpigmentation of the skin — 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): 7
Clinical features
Epidemiology
Prevalence records
2 prevalence record(s), Orphanet:
| Type | Class | Value | Geography | Validation |
|---|---|---|---|---|
| Cases/families | 3 | Worldwide | Validated | |
| Point prevalence | <1 / 1 000 000 | Worldwide | Validated |
Signs & symptoms
Clinical features (HPO)
7 HPO clinical features (Orphanet curated; top 7 by frequency):
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000940 | Abnormal diaphysis morphology | Very frequent (80-99%) |
| HP:0000944 | Abnormal metaphysis morphology | Very frequent (80-99%) |
| HP:0002211 | White forelock | Very frequent (80-99%) |
| HP:0002644 | Abnormality of pelvic girdle bone morphology | Very frequent (80-99%) |
| HP:0007412 | Macular hyperpigmented dermopathy | Very frequent (80-99%) |
| HP:0010740 | Osteopathia striata | Very frequent (80-99%) |
| HP:0100670 | Rough bone trabeculation | Very frequent (80-99%) |
Identifiers
Disease identifiers
| Field | Value |
|---|---|
| Canonical name | osteopathia striata-pigmentary dermopathy-white forelock syndrome |
| Mondo ID | MONDO:0017197 |
| MeSH | C536054 |
| Orphanet | 2779 |
| UMLS | C2931096 |
| MedGen | 419711 |
| GARD | 0005562 |
| Is cancer (heuristic) | no |
Also known as: osteopathia striata associated with familial dermopathy and white forelock · osteopathia striata with pigmentary dermopathy including white forelock · Whyte Murphy syndrome · Whyte-Murphy syndrome
Disease family
This is a subtype of hyperpigmentation of the skin. 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 body system or component › integumentary system disorder › skin disorder › skin pigmentation disorder › hyperpigmentation of the skin › osteopathia striata-pigmentary dermopathy-white forelock syndrome
Related subtypes (23): dyschromatosis universalis hereditaria, cafe au lait spots, multiple, dermatopathia pigmentosa reticularis, dyschromatosis symmetrica hereditaria, extrasystoles-short stature-hyperpigmentation-microcephaly syndrome, gastrocutaneous syndrome, hyperkeratosis-hyperpigmentation syndrome, familial generalized lentiginosis, Naegeli-Franceschetti-Jadassohn syndrome, schwannomatosis, Dowling-Degos disease, H syndrome, Legius syndrome, familial progressive hyperpigmentation, linear and whorled nevoid hypermelanosis, reticulate acropigmentation of Kitamura, nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome, severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome, leukonychia totalis-acanthosis-nigricans-like lesions-abnormal hair syndrome, phakomatosis pigmentovascularis, acromelanosis, hyperpigmentation, progressive cribriform and zosteriform, mosaic Legius syndrome
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.