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)
20
(9.2%)		 19911369
 Congenital rubella pneumonitis complicated by Pneumocystis jiroveci infection with positive long term respiratory outcome: a case report and literature review.
Sanchez MO, Chang AB.
Pediatr Pulmonol. 2009;44(12):1235-9.
Immunodeficiency
Females Homo sapiens Infant Male Pneumocystis carinii Pneumonia Pregnancy Pregnancy Complications Rubella
20
(9.2%)		 17854460
 Congenital rubella syndrome, hyper-IgM syndrome and autoimmunity in an 18-year-old girl.
Palacin PS, Castilla Y, Garzon P, Figueras C, Castellvi J, Espanol T.
J Paediatr Child Health. 2007;43(10):716-8.
Immunodeficiency
Congenital Rubella Syndrome Females Homo sapiens Infant
20
(9.2%)		 6646927
 Desquamative interstitial pneumonia and antigen-antibody complexes in two infants with congenital rubella.
Boner A, Wilmott RW, Dinwiddie R, Jeffries DJ, Matthew DJ, Marshall WC, Mowbray JF, Pincott JR, Rivers RP.
Pediatrics. 1983;72(6):835-9.
Pneumonia
Homo sapiens Immunoglobulin M Infant Male Pulmonary Fibrosis Rubella
20
(9.2%)		 3497469
 [Intracerebral calcification in a patient with late-onset congenital rubella].
Roos RA, Vink PV, Gerritsen EJ.
Tijdschr Kindergeneeskd. 1987;55(3):100-3.
Failure to thrive Pneumonia
Agammaglobulinemia Brain Diseases Calcinosis Congenital Rubella Syndrome Homo sapiens Infant Male Rubella X-Ray Computed Tomography
25
(9.2%)		 3843596
 Cardiovascular diseases due to viruses.
Kawana R.
Heart Vessels Suppl. 1985;1:91-6.
Myocarditis
Animals Cardiomyopathies Congenital Heart Defects Coxsackievirus Infections Females Homo sapiens Infant, Newborn Male Mus Myocarditis Virus Diseases
25
(9.2%)		 441778
 Hypoplasia of the abdominal aorta associated with rubella syndrome.
Limbacher JP, Hill ME, Janicki PC.
South Med J. 1979;72(5):617-9.
Hypertension
Adult Females Homo sapiens Intermittent Claudication Pregnancy Rubella Syndrome
27
(5.0%)		 30868799
 Aniridia: A Rare Manifestation Of Congenital Rubella Syndrome.
Hussain AS, Ali SR, Mohammad N, Ali N, Ahmed S, Ahmad T.
J Ayub Med Coll Abbottabad. 2019;31(1):131-133.
Glaucoma
TWIST1
Aniridia Congenital Rubella Syndrome Females Homo sapiens Infant, Newborn
27
(5.0%)		 27606025
(4991157)
 Psychiatric manifestations of congenital rubella syndrome: A case report and review of literature.
Chauhan N, Sen MS, Jhanda S, Grover S.
J Pediatr Neurosci. 2016;11(2):137-9.
Attention deficit hyperactivity disorder
27
(5.0%)		 27220231
(5712918)
 Secondary congenital aphakia.
Ionescu C, Dascalescu D, Cristea M, Schmitzer S, Cioboata M, Iancu R, Corbu C.
Rom J Ophthalmol. 2016;60(1):37-9.
Microcephaly
Aphakia Capsulorhexis Cataract Child, Preschool Congenital Heart Defects Congenital Rubella Syndrome Homo sapiens Intellectual Disability Male Microcephaly Microphthalmos Vitrectomy
27
(5.0%)		 25372335
 Central serous chorioretinopathy after trabeculectomy in a patient with microphthalmos and congenital rubella syndrome.
Takakura A, Haug SJ, Radhakrishnan S, Fu AD, Jumper JM, MacDonald HR, Johnson RN, Lujan BJ, Cunningham ET Jr.
Retin Cases Brief Rep. 2014;8(2):153-6.
Retinopathy
Central Serous Chorioretinopathy Congenital Rubella Syndrome Glaucoma Homo sapiens Male Microphthalmos Middle Aged Trabeculectomy
        

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