Palmer pagon syndrome
diseaseOn this page
Also known as familial hydrocephalus with a low-insertion umbilicushydrocephaly - low insertion umbilicus
Summary
Palmer pagon syndrome (MONDO:0043164) is a disease. A subtype of hydrocephalus — 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 | 2 | 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:0000079 | Abnormality of the urinary system | Very frequent (80-99%) |
| HP:0000286 | Epicanthus | Very frequent (80-99%) |
| HP:0000445 | Wide nose | Very frequent (80-99%) |
| HP:0000765 | Abnormal thorax morphology | Very frequent (80-99%) |
| HP:0001334 | Communicating hydrocephalus | Very frequent (80-99%) |
| HP:0003189 | Long nose | Very frequent (80-99%) |
| HP:0004299 | Hernia of the abdominal wall | Very frequent (80-99%) |
| HP:0001636 | Tetralogy of Fallot | Frequent (30-79%) |
| HP:0001643 | Patent ductus arteriosus | Frequent (30-79%) |
| HP:0010772 | Anomalous pulmonary venous return | Frequent (30-79%) |
Identifiers
Disease identifiers
| Field | Value |
|---|---|
| Canonical name | palmer pagon syndrome |
| Mondo ID | MONDO:0043164 |
| MeSH | C538107 |
| Orphanet | 2184 |
| UMLS | C2931734 |
| MedGen | 419886 |
| GARD | 0004199 |
| Is cancer (heuristic) | no |
Also known as: familial hydrocephalus with a low-insertion umbilicus · hydrocephaly - low insertion umbilicus
Disease family
This is a subtype of hydrocephalus. 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 › nervous system disorder › central nervous system disorder › brain disorder › hydrocephalus › palmer pagon syndrome
Related subtypes (6): obstructive hydrocephalus, communicating hydrocephalus, craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome, congenital hydrocephalus, megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome, baker Vinters 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.