Pai syndrome

Summary

Pai syndrome (MONDO:0007956) is a disease. A subtype of frontonasal dysplasia — 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): 16

Clinical features

Epidemiology

Prevalence records

2 prevalence record(s), Orphanet:

Type	Class	Value	Geography	Validation
Cases/families		67	Worldwide	Validated
Point prevalence	<1 / 1 000 000		Worldwide	Validated

Signs & symptoms

Clinical features (HPO)

16 HPO clinical features (Orphanet curated; top 16 by frequency):

HPO ID	Term	Frequency
HP:0000161	Median cleft lip	Very frequent (80-99%)
HP:0000175	Cleft palate	Very frequent (80-99%)
HP:0001482	Subcutaneous nodule	Very frequent (80-99%)
HP:0005280	Depressed nasal bridge	Very frequent (80-99%)
HP:0006866	Midline central nervous system lipomas	Very frequent (80-99%)
HP:0010609	Skin tags	Very frequent (80-99%)
HP:0100582	Nasal polyposis	Very frequent (80-99%)
HP:0000190	Abnormal oral frenulum morphology	Frequent (30-79%)
HP:0000193	Bifid uvula	Frequent (30-79%)
HP:0000316	Hypertelorism	Frequent (30-79%)
HP:0000506	Telecanthus	Frequent (30-79%)
HP:0000494	Downslanted palpebral fissures	Occasional (5-29%)
HP:0000612	Iris coloboma	Occasional (5-29%)
HP:0002084	Encephalocele	Occasional (5-29%)
HP:0004122	Midline defect of the nose	Occasional (5-29%)
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	Occasional (5-29%)

Identifiers

Disease identifiers

Field	Value
Canonical name	Pai syndrome
Mondo ID	MONDO:0007956
MeSH	C536135
OMIM	155145
Orphanet	1993
ICD-11	1236130516
SNOMED CT	722201004
UMLS	C1835087
MedGen	371972
GARD	0003439
Is cancer (heuristic)	no

Also known as: median cleft of the upper lip-corpus callosum lipoma-cutaneous polyps syndrome · median cleft of upper lip with polyps of facial skin and nasal mucosa · Pai syndrome

Disease family

This is a subtype of frontonasal dysplasia. 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 › frontonasal dysplasia › Pai syndrome

Related subtypes (8): frontorhiny, frontofacionasal dysplasia, oculoauriculofrontonasal syndrome, acromelic frontonasal dysostosis, frontonasal dysplasia with alopecia and genital anomaly, frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome, craniofrontonasal dysplasia-Poland anomaly syndrome, six2-related frontonasal dysplasia

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.