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)

   


(per page)
Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
11
(15.4%)		 16546260
 Duodenal stenosis, a new finding on congenital rubella syndrome: case description and literature review.
Diamanti A, Pietrobattista A, Bevivino E, De Angelis P, Calce A, Dall'Oglio L, Gambarara M.
J Infect. 2006;53(5):e207-10.
Microcephaly Vomiting
TWIST1
Congenital Rubella Syndrome Duodenal Diseases Gastrointestinal Diseases Homo sapiens Infant Stenosis
12
(11.2%)		 29557985
(5962088)
 Isolation of infectious Zika virus from a urine sample cultured in SIRC cells from a patient suspected of having rubella virus.
Oliveira MI, Namiyama GM, Cabral GB, Ferreira JL, Taniwaki N, Afonso AMS, Lima IR, Brigido LFM.
Rev Inst Med Trop Sao Paulo. 2018;60:e15.
Fever
Brazil Culture Media Cultured Cells Differential Diagnosis Females Genotype Homo sapiens Middle Aged Real-Time Polymerase Chain Reaction Rubella Zika Virus Zika Virus Infection
12
(11.2%)		 7368931
 Hyperthyroidism, diabetes mellitus and the congenital rubella syndrome.
Floret D, Rosenberg D, Hage GN, Monnet P.
Acta Paediatr Scand. 1980;69(2):259-61.
Diabetes mellitus
Child, Preschool Chorioretinitis Deafness Diabetes Mellitus, Insulin-Dependent Homo sapiens Hyperthyroidism Intellectual Disability Male Rubella Syndrome
12
(11.2%)		 3976806
 Peripheral corneal edema after cataract extraction.
Charlin R.
Am J Ophthalmol. 1985;99(3):298-303.
Cataract Edema
Adult Cataract Extraction Cornea Corneal Diseases Edema Females Homo sapiens Male Middle Aged Syndrome
15
(10.8%)		 22490421
 Unilateral pulmonary artery stenosis and late-onset cataract in an adult: a case of suspected congenital rubella syndrome.
Liu Y, Guo J, Zhao RF, Wang L.
Chin Med J (Engl). 2012;125(3):549-51.
Cataract Pulmonary artery stenosis
Adult Cataract Congenital Rubella Syndrome Homo sapiens Male Pulmonary Valve Stenosis
15
(10.8%)		 16084344
 Aortic hypoplasia and right ventricular outflow tract obstruction in a young man with uncontrolled hypertension.
Ho E, Foley DP, Brown A.
J Am Soc Echocardiogr. 2005;18(8):883.
Cataract Patent ductus arteriosus
Adult Aorta Congenital Heart Defects Congenital Rubella Syndrome Echocardiography, Transesophageal Homo sapiens Male
15
(10.8%)		 12824690
 Congenital rubella syndrome due to infection after maternal antibody conversion with vaccine.
Ushida M, Katow S, Furukawa S.
Jpn J Infect Dis. 2003;56(2):68-9.
Cataract Patent ductus arteriosus
Adult Antibodies, Viral Child Congenital Rubella Syndrome Females Homo sapiens Infant Male Pregnancy Pregnancy Complications, Infectious Time Factors
15
(10.8%)		 6450397
 Arteriohepatic dysplasia: association of liver disease with pulmonary arterial stenosis as well as facial and skeletal abnormalities.
Levin SE, Zarvos P, Milner S, Schmaman A.
Pediatrics. 1980;66(6):876-83.
Arterial stenosis
Bone and Bones Cardiomegaly Child Child, Preschool Face Females Growth Disorders Homo sapiens Infant Liver Male
15
(10.8%)		 3822869
 Severe subaortic stenosis associated with congenital rubella syndrome: palliation by percutaneous transcatheter device occlusion of a patent ductus arteriosus.
Moore JW, Mullins CE.
Pediatr Cardiol. 1986;7(4):221-3.
Patent ductus arteriosus
Aortic Valve Stenosis Congenital Rubella Syndrome Females Homo sapiens Infant Prostheses and Implants Rubella
20
(9.2%)		 28974385
 Inhibition of rubella virus replication by the broad-spectrum drug nitazoxanide in cell culture and in a patient with a primary immune deficiency.
Perelygina L, Hautala T, Seppanen M, Adebayo A, Sullivan KE, Icenogle J.
Antiviral Res. 2017;147:58-66.
Granuloma
CST12P SNORA73A
A549 Cells Animals Antigens, Viral Antiviral Agents Cell Survival Cercopithecus aethiops Females Granuloma Homo sapiens Human Umbilical Vein Endothelial Cells Immunologic Deficiency Syndromes Inhibitory Concentration 50 Nitro Compounds Rubella Skin Thiazoles Vero Cells Virus Replication
        

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