Harlequin syndrome

Summary

Harlequin syndrome (MONDO:0016040) is a disease. A subtype of autonomic nervous system disorder — 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): 12

Clinical features

Epidemiology

Prevalence records

2 prevalence record(s), Orphanet:

Type	Class	Value	Geography	Validation
Cases/families		100	Worldwide	Validated
Point prevalence	<1 / 1 000 000		Worldwide	Validated

Signs & symptoms

Clinical features (HPO)

12 HPO clinical features (Orphanet curated; top 12 by frequency):

HPO ID	Term	Frequency
HP:0000970	Anhidrosis	Frequent (30-79%)
HP:0000980	Pallor	Frequent (30-79%)
HP:0002277	Horner syndrome	Frequent (30-79%)
HP:0031284	Flushing	Frequent (30-79%)
HP:0033850	Coldness	Frequent (30-79%)
HP:0000616	Miosis	Occasional (5-29%)
HP:0007687	Unilateral ptosis	Occasional (5-29%)
HP:0009926	Epiphora	Occasional (5-29%)
HP:0012199	Cluster headache	Occasional (5-29%)
HP:0031417	Rhinorrhea	Occasional (5-29%)
HP:0000763	Sensory neuropathy	Excluded (0%)
HP:0004302	Functional motor deficit	Excluded (0%)

Identifiers

Disease identifiers

Field	Value
Canonical name	harlequin syndrome
Mondo ID	MONDO:0016040
MeSH	C535634
Orphanet	199282
SNOMED CT	14070001000004105
UMLS	C2029348
MedGen	384475
GARD	0008610
Is cancer (heuristic)	no

Also known as: progressive isolated segmental anhidrosis · sudden onset of unilateral flushing and sweating · unilateral loss of facial flushing and sweating with contralateral anhidrosis

Disease family

This is a subtype of autonomic nervous system disorder. 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 › autonomic nervous system disorder › harlequin syndrome

Related subtypes (12): idiopathic peripheral autonomic neuropathy, autonomic neuropathy, autonomic nervous system neoplasm, Frey syndrome, chronic hiccup, pure autonomic failure, baroreflex failure, autonomic dysreflexia, dysautonomia, sympathetic nervous system disorder, parasympathetic nervous system disorder, central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease

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.