Patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome

Summary

Patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome (MONDO:0011454) is a disease. A subtype of heart-hand syndrome — 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): 8

Clinical features

Epidemiology

Prevalence records

2 prevalence record(s), Orphanet:

Type	Class	Value	Geography	Validation
Cases/families		7	Worldwide	Validated
Point prevalence	<1 / 1 000 000		Worldwide	Validated

Signs & symptoms

Clinical features (HPO)

8 HPO clinical features (Orphanet curated; top 8 by frequency):

HPO ID	Term	Frequency
HP:0001643	Patent ductus arteriosus	Obligate (100%)
HP:0001647	Bicuspid aortic valve	Obligate (100%)
HP:0005295	Pseudocoarctation of the aorta	Obligate (100%)
HP:0005922	Abnormal hand morphology	Obligate (100%)
HP:0004209	Clinodactyly of the 5th finger	Very frequent (80-99%)
HP:0010047	Short 5th metacarpal	Very frequent (80-99%)
HP:0011927	Short digit	Very frequent (80-99%)
HP:0000271	Abnormality of the face	Excluded (0%)

Identifiers

Disease identifiers

Field	Value
Canonical name	patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome
Mondo ID	MONDO:0011454
MeSH	C565782
OMIM	604381
Orphanet	228190
UMLS	C1858420
MedGen	346902
GARD	0017148
Is cancer (heuristic)	no

Also known as: patent arterial duct-bicuspid aortic valve-hand anomalies syndrome

Disease family

This is a subtype of heart-hand syndrome. 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 › syndromic disease › heart-hand syndrome › patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome

Related subtypes (5): brachydactyly-long thumb syndrome, Holt-Oram syndrome, Carney complex - trismus - pseudocamptodactyly syndrome, heart-hand syndrome, Slovenian type, heart-hand syndrome type 2

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.