Pacman dysplasia

Summary

Pacman dysplasia (MONDO:0008175) 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): 10

Clinical features

Epidemiology

Prevalence records

2 prevalence record(s), Orphanet:

Type	Class	Value	Geography	Validation
Cases/families		4	Worldwide	Validated
Point prevalence	<1 / 1 000 000		Worldwide	Validated

Signs & symptoms

Clinical features (HPO)

10 HPO clinical features (Orphanet curated; top 10 by frequency):

HPO ID	Term	Frequency
HP:0000601	Hypotelorism	Very frequent (80-99%)
HP:0001643	Patent ductus arteriosus	Very frequent (80-99%)
HP:0002683	Abnormality of the calvaria	Very frequent (80-99%)
HP:0002970	Genu varum	Very frequent (80-99%)
HP:0003417	Coronal cleft vertebrae	Very frequent (80-99%)
HP:0005716	Lethal skeletal dysplasia	Very frequent (80-99%)
HP:0006487	Bowing of the long bones	Very frequent (80-99%)
HP:0010655	Epiphyseal stippling	Very frequent (80-99%)
HP:0011849	Abnormal bone ossification	Very frequent (80-99%)
HP:0100670	Rough bone trabeculation	Very frequent (80-99%)

Identifiers

Disease identifiers

Field	Value
Canonical name	pacman dysplasia
Mondo ID	MONDO:0008175
MeSH	C538095
OMIM	167220
Orphanet	1952
ICD-11	519938437
SNOMED CT	722127006
UMLS	C1833676
MedGen	331566
GARD	0004189
Is cancer (heuristic)	no

Also known as: epiphyseal stippling syndrome-osteoclastic hyperplasia syndrome · pacman dysplasia · Pacman 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 › pacman dysplasia

Related subtypes (13): acroosteolysis, multicentric carpo-tarsal osteolysis with or without nephropathy, 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, talo-patello-scaphoid osteolysis, 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.