Congenital rubella syndrome

Summary

Congenital rubella syndrome (MONDO:0017361) is a disease and 4 clinical trials. Top therapeutic interventions include prednisolone. A subtype of rubella — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• Prevalence: 1-9 / 1 000 000 (Worldwide) [Orphanet-validated]
• Phenotypes (HPO): 31
• Clinical trials: 4

Clinical features

Epidemiology

Prevalence records

11 prevalence record(s), Orphanet:

Type	Class	Value	Geography	Validation
Prevalence at birth	1-9 / 1 000 000		Worldwide	Validated
Prevalence at birth	1-9 / 1 000 000	0.29	France	Validated
Prevalence at birth	1-9 / 1 000 000	0.24	Germany	Validated
Prevalence at birth	1-9 / 1 000 000	0.8	Italy	Validated
Prevalence at birth	1-9 / 1 000 000	0.64	Netherlands	Validated
Prevalence at birth	1-9 / 1 000 000	0.27	Austria	Validated
Prevalence at birth	1-9 / 100 000	2.18	Romania	Validated
Prevalence at birth	1-9 / 1 000 000	0.22	Spain	Validated
Prevalence at birth	<1 / 1 000 000	0.02	Turkey	Validated
Annual incidence	<1 / 1 000 000	0.03	Europe	Not yet validated
Prevalence at birth	1-9 / 1 000 000	0.35	Europe	Not yet validated

Signs & symptoms

Clinical features (HPO)

31 HPO clinical features (Orphanet curated; top 31 by frequency):

HPO ID	Term	Frequency
HP:0000407	Sensorineural hearing impairment	Very frequent (80-99%)
HP:0000518	Cataract	Very frequent (80-99%)
HP:0001511	Intrauterine growth retardation	Very frequent (80-99%)
HP:0002167	Abnormality of speech or vocalization	Very frequent (80-99%)
HP:0000235	Abnormality of the fontanelles or cranial sutures	Frequent (30-79%)
HP:0000252	Microcephaly	Frequent (30-79%)
HP:0000486	Strabismus	Frequent (30-79%)
HP:0000501	Glaucoma	Frequent (30-79%)
HP:0000505	Visual impairment	Frequent (30-79%)
HP:0000568	Microphthalmia	Frequent (30-79%)
HP:0000639	Nystagmus	Frequent (30-79%)
HP:0000988	Skin rash	Frequent (30-79%)
HP:0001249	Intellectual disability	Frequent (30-79%)
HP:0001252	Hypotonia	Frequent (30-79%)
HP:0001264	Spastic diplegia	Frequent (30-79%)
HP:0001629	Ventricular septal defect	Frequent (30-79%)
HP:0001631	Atrial septal defect	Frequent (30-79%)
HP:0001643	Patent ductus arteriosus	Frequent (30-79%)
HP:0001744	Splenomegaly	Frequent (30-79%)
HP:0001873	Thrombocytopenia	Frequent (30-79%)
HP:0001903	Anemia	Frequent (30-79%)
HP:0002240	Hepatomegaly	Frequent (30-79%)
HP:0004322	Short stature	Frequent (30-79%)
HP:0004414	Abnormality of the pulmonary artery	Frequent (30-79%)
HP:0007703	Abnormality of retinal pigmentation	Frequent (30-79%)
HP:0008053	Aplasia/Hypoplasia of the iris	Frequent (30-79%)
HP:0000944	Abnormal metaphysis morphology	Occasional (5-29%)
HP:0000952	Jaundice	Occasional (5-29%)
HP:0001250	Seizure	Occasional (5-29%)
HP:0007957	Corneal opacity	Occasional (5-29%)
HP:0100651	Type I diabetes mellitus	Occasional (5-29%)

Identifiers

Disease identifiers

Field	Value
Canonical name	congenital rubella syndrome
Mondo ID	MONDO:0017361
EFO	EFO:0007218
MeSH	D012410
Orphanet	290
ICD-10-CM	P35.0
ICD-11	1059053724
NCIT	C34992
SNOMED CT	1857005
UMLS	C0035921
MedGen	19841
GARD	0004744
MedDRA	10010618
NORD	1681
Is cancer (heuristic)	no

Also known as: congenital rubella · congenital rubella syndrome · CRS · fetal rubella syndrome · foetal rubella syndrome · mother-to-child transmission of rubella syndrome · rubella congenital · Rubella, Congenital

Disease family

This is a subtype of rubella. 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 primarily extrinsic mechanism › infectious disease › viral infectious disease › primary viral infectious disease › rubella › congenital rubella 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: 4.

Phase distribution (across all retrieved trials)

Phase	Trials
Not specified	3
PHASE4	1

Top trials by phase / activity

NCT	Phase	Status	Title
NCT05474924	PHASE4	UNKNOWN	The Role of Budesonide Intrapolyp Injection in CRSwNP
NCT02997020	Not specified	ACTIVE_NOT_RECRUITING	Ivacaftor for Acquired CFTR Dysfunction in Chronic Rhinosinusitis (EDSPD Protocol)
NCT04868695	Not specified	RECRUITING	Subjective and Objective Outcome of ESS in CRSwNP
NCT03379701	Not specified	COMPLETED	Applications of Nanotechnology and Chemical Sensors for the Detection and Identification of Chronic Sinusitis Subtypes by Respiratory Samples

Drugs tested across these trials (top 30)

Molecule	Max phase	Trials referencing
PREDNISOLONE	4	1