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)
1
(43.5%)		 11213556
 [Congenital infection: diagnostic serology of the mother not always definitive].
Verboon-Maciolek MA, Gerards LJ, Stoutenbeek P, van Loon AM.
Ned Tijdschr Geneeskd. 2001;145(4):153-6.
Microcephaly Jaundice Petechiae Hepatosplenomegaly
Adult Amniotic Fluid Antibodies, Viral Congenital Rubella Syndrome Cytomegalovirus Infections Differential Diagnosis Females Fetal Diseases Homo sapiens Infant, Newborn Male Pregnancy Pregnancy Complications, Infectious Rubella Ultrasonography
2
(38.0%)		 21755831
 Viral molecular characterization of the first congenital rubella syndrome case in Vietnam.
Tran DN, Vu MP, Ha MT, Giang TP, Komase K, Mizuguchi M, Ushijima H.
Clin Lab. 2011;57(5-6):397-401.
Microcephaly Hepatosplenomegaly Thrombocytopenia
Adult Cataract Congenital Heart Defects DNA, Viral Females Fetal Growth Retardation Homo sapiens Infant, Newborn Infant, Premature, Diseases Male Microcephaly Molecular Sequence Data Phylogeny Pregnancy Pregnancy Complications, Infectious Pregnancy Trimester, First Preterm Infant Rubella Vietnam
3
(28.5%)		 8051318
 Congenital rubella syndrome with rubella virus-associated generalized brownish macules, indurated erythemas, papules, and pigmentation.
Seno A, Tada J, Matsuura H, Arata J, Isomura H, Kitamura T, Oda M, Katow S.
J Dermatol. 1994;21(5):323-8.
Hepatosplenomegaly Erythema
Congenital Rubella Syndrome Homo sapiens Infant Male Polymerase Chain Reaction RNA, Viral Skin Skin Pigmentation
4
(26.7%)		 29184005
 An infant with congenital rubella syndrome in developing India.
Singh A, Narula S, Kareem H, Devasia T.
BMJ Case Rep. 2017;2017:.
Cataract Hepatosplenomegaly
Atrial Septal Defects Congenital Rubella Syndrome Females Hepatomegaly Homo sapiens India Infant, Newborn Preterm Infant Splenomegaly
4
(26.7%)		 16623349
 [The first newborn with congenital rubella syndrome during the rubella epidemic in The Netherlands in 2004/'05].
de Mol AC, Vrancken S, Eggink AJ, Verduyn Lunel FM, Warris A.
Ned Tijdschr Geneeskd. 2006;150(13):741-6.
Amenorrhea Hepatosplenomegaly
Adult Congenital Rubella Syndrome Females Homo sapiens Infant, Newborn Male Netherlands Pregnancy Pregnancy Complications, Infectious Rubella
6
(22.2%)		 20171592
 Congenital rubella syndrome with autistic disorder.
Hwang SJ, Chen YS.
J Chin Med Assoc. 2010;73(2):104-7.
Torticollis Constipation Hyperlipidemia Pulmonary artery stenosis
Adult Antipsychotic Agents Autistic Disorder Congenital Rubella Syndrome Homo sapiens Male
7
(20.8%)		 18374856
 [Chronic exanthema in a child with congenital rubella].
Lasek-Duriez A, Hubiche T, Aladjidi N, Lamireau T, Taieb A, Leaute-Labreze C.
Ann Dermatol Venereol. 2008;135(3):222-4.
Immunodeficiency Erythema
Congenital Rubella Syndrome Deafness Exanthema Females Homo sapiens Immunologic Deficiency Syndromes Infant Pregnancy Pregnancy Complications RNA, Viral Rubella
8
(20.5%)		 26840886
 Congenital rubella syndrome with death from interstitial pneumonia.
Mizuno Y, Yokoi K, Suzuki S.
Pediatr Int. 2016;58(6):490-493.
Hearing impairment Thrombocytopenia Pneumonia
TWIST1
9
(16.0%)		 28579716
(5440835)
 Clinically Confirmed Congenital Rubella Syndrome: The Role of Echocardiography.
Mekonnen D.
Ethiop J Health Sci. 2017;27(2):197-202.
Patent ductus arteriosus Malnutrition
TWIST1
Congenital Rubella Syndrome Echocardiography Females Homo sapiens Infant
10
(15.4%)		 6684749
 Persistent corneal edema in the congenital rubella syndrome.
Deluise VP, Cobo LM, Chandler D.
Ophthalmology. 1983;90(7):835-9.
Keratitis Edema
Cataract Cornea Corneal Diseases Corneal Opacity Edema Females Fetal Diseases Homo sapiens Infant Infant, Newborn Pregnancy Rubella Syndrome
        

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