Congenital rubella syndrome

Congenital rubella syndrome (CRS) is an infectious embryofetopathy that may present in an infant as a result of maternal infection and subsequent fetal infection with rubella virus. CRS can lead to deafness, cataract, and variety of other permanent manifestations including cardiac and neurological defects.

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Narrow down the case reports

Total: 53 (papers)

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Matched Phenotype Gene Mutation MeSH

Rank (Similarity)	PMID (PMCID)
27 (5.0%)	1815171	Neuroimaging findings (ultrasonography, CT, MRI) in 3 infants with congenital rubella syndrome. Yamashita Y, Matsuishi T, Murakami Y, Shoji H, Hashimoto T, Utsunomiya H, Araki H. Pediatr Radiol. 1991;21(8):547-9. [ Show abstract ] [ Hide abstract ]
		Subependymal cysts


		Congenital Rubella Syndrome Females Homo sapiens Infant Magnetic Resonance Imaging Male Ultrasonography X-Ray Computed Tomography
27 (5.0%)	1572573	[Congenital rubella syndrome after maternal immunization]. Miron D, On A. Harefuah. 1992;122(5):291-3. [ Show abstract ] [ Hide abstract ]
		Microcephaly


		Antibodies, Viral Child, Preschool Congenital Rubella Syndrome Females Homo sapiens Pregnancy Pregnancy Complications, Infectious Rubella Vaccination
27 (5.0%)	521881	Hydrocephalus combined with congenital cataract and microphthalmia. Cennamo G, Gangemi M, Magli A. J Pediatr Ophthalmol Strabismus. 1979;16(6):382-5. [ Show abstract ] [ Hide abstract ]
		Hydrocephalus


		Cataract Differential Diagnosis Females Homo sapiens Hydrocephalus Infant, Newborn Microphthalmos Ultrasonography

Phenotype(s) retrieved from Orphanet

Total: 31

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

Phenotype(s) retrieved from case reports

Total: 31

HPO ID	Term	# of case reports
HP:0000518	Cataract	5
HP:0000252	Microcephaly	2
HP:0001643	Patent ductus arteriosus	2
HP:0004415	Pulmonary artery stenosis	2
HP:0000501	Glaucoma	1
HP:0000526	Aniridia	1
HP:0000563	Keratoconus	1
HP:0000568	Microphthalmia	1
HP:0000622	Blurred vision	1
HP:0000819	Diabetes mellitus	1
HP:0000822	Hypertension	1
HP:0000836	Hyperthyroidism	1
HP:0000952	Jaundice	1
HP:0000967	Petechiae	1
HP:0000969	Edema	1
HP:0001249	Intellectual disability	1
HP:0001302	Pachygyria	1
HP:0001433	Hepatosplenomegaly	1
HP:0001511	Intrauterine growth retardation	1
HP:0002090	Pneumonia	1
HP:0002514	Cerebral calcification	1
HP:0004395	Malnutrition	1
HP:0006994	Diffuse leukoencephalopathy	1
HP:0010655	Epiphyseal stippling	1
HP:0010783	Erythema	1
HP:0012040	Corneal stromal edema	1
HP:0012424	Chorioretinitis	1
HP:0012733	Macule	1
HP:0025356	Psychomotor retardation	1
HP:0032252	Granuloma	1
HP:0200034	Papule	1

Causative gene(s) retrieved from Orphanet

Total: 0

Gene Symbol	Gene Name	Entrez Gene ID