MCID: CNG124
MIFTS: 40

Congenital Rubella malady

Categories: Rare diseases, Fetal diseases, Neuronal diseases, Infectious diseases, Skin diseases

Aliases & Classifications for Congenital Rubella

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Sources:
66UMLS, 46NIH Rare Diseases, 52Orphanet, 41NCBI Bookshelf, 29ICD10 via Orphanet, 38MESH via Orphanet, 67UMLS via Orphanet, 28ICD10
See all MalaCards sources

Aliases & Descriptions for Congenital Rubella:

Name: Congenital Rubella 46
Congenital Rubella Syndrome 46 52 66
Crs 46 52 41
 
Fetal Rubella Syndrome 52
Rubella Congenital 46
Craniosynostosis 66

Characteristics:

Orphanet epidemiological data:

52
congenital rubella syndrome:
Inheritance: Not applicable; Prevalence: 1-9/1000000 (Worldwide); Age of onset: Antenatal,Neonatal; Age of death: embryofetal,infantile,stillbirth

Classifications:



External Ids:

Orphanet52 ORPHA290
ICD10 via Orphanet29 P35.0
MESH via Orphanet38 D012410
UMLS via Orphanet67 C0035921
ICD1028 P35.0

Summaries for Congenital Rubella

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Wikipedia:69 Congenital rubella syndrome (CRS) can occur in a developing fetus of a pregnant woman who has contracted... more...

MalaCards based summary: Congenital Rubella, also known as congenital rubella syndrome, is related to rubella and craniosynostosis, type 1, and has symptoms including sensorineural hearing impairment, cataract and intrauterine growth retardation. An important gene associated with Congenital Rubella is CAT (Catalase), and among its related pathways is Primary immunodeficiency. Affiliated tissues include skin, thyroid and eye, and related mouse phenotype homeostasis/metabolism.

Related Diseases for Congenital Rubella

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Graphical network of the top 20 diseases related to Congenital Rubella:



Diseases related to congenital rubella

Symptoms for Congenital Rubella

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Symptoms:

 52 (show all 31)
  • abnormality of the fontanelles or cranial sutures
  • microcephaly
  • sensorineural hearing impairment
  • strabismus
  • glaucoma
  • visual impairment
  • cataract
  • microphthalmos
  • nystagmus
  • abnormality of the metaphyses
  • jaundice
  • skin rash
  • intellectual disability
  • seizures
  • muscular hypotonia
  • spastic diplegia
  • intrauterine growth retardation
  • ventricular septal defect
  • defect in the atrial septum
  • patent ductus arteriosus
  • splenomegaly
  • thrombocytopenia
  • anemia
  • neurological speech impairment
  • hepatomegaly
  • short stature
  • abnormality of the pulmonary artery
  • abnormal retinal pigmentation
  • corneal opacity
  • aplasia/hypoplasia of the iris
  • type i diabetes mellitus

HPO human phenotypes related to Congenital Rubella:

(show all 29)
id Description Frequency HPO Source Accession
1 sensorineural hearing impairment hallmark (90%) HP:0000407
2 cataract hallmark (90%) HP:0000518
3 intrauterine growth retardation hallmark (90%) HP:0001511
4 neurological speech impairment hallmark (90%) HP:0002167
5 abnormality of the fontanelles or cranial sutures typical (50%) HP:0000235
6 microcephaly typical (50%) HP:0000252
7 strabismus typical (50%) HP:0000486
8 glaucoma typical (50%) HP:0000501
9 visual impairment typical (50%) HP:0000505
10 nystagmus typical (50%) HP:0000639
11 skin rash typical (50%) HP:0000988
12 muscular hypotonia typical (50%) HP:0001252
13 hypertonia typical (50%) HP:0001276
14 ventricular septal defect typical (50%) HP:0001629
15 atria septal defect typical (50%) HP:0001631
16 patent ductus arteriosus typical (50%) HP:0001643
17 splenomegaly typical (50%) HP:0001744
18 thrombocytopenia typical (50%) HP:0001873
19 anemia typical (50%) HP:0001903
20 hepatomegaly typical (50%) HP:0002240
21 short stature typical (50%) HP:0004322
22 abnormality of the pulmonary artery typical (50%) HP:0004414
23 abnormality of retinal pigmentation typical (50%) HP:0007703
24 aplasia/hypoplasia of the iris typical (50%) HP:0008053
25 cognitive impairment typical (50%) HP:0100543
26 abnormality of the metaphyses occasional (7.5%) HP:0000944
27 seizures occasional (7.5%) HP:0001250
28 opacification of the corneal stroma occasional (7.5%) HP:0007759
29 type i diabetes mellitus occasional (7.5%) HP:0100651

Drugs & Therapeutics for Congenital Rubella

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Interventional clinical trials:

idNameStatusNCT IDPhase
1Susceptibility Genes in Autism Spectrum DisordersRecruitingNCT02628808
2Expanded Noninvasive Genomic Medical Assessment: The Enigma StudyRecruitingNCT02787486

Search NIH Clinical Center for Congenital Rubella

Genetic Tests for Congenital Rubella

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Anatomical Context for Congenital Rubella

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MalaCards organs/tissues related to Congenital Rubella:

34
Skin, Thyroid, Eye, T cells, Testes, Brain, Endothelial

Animal Models for Congenital Rubella or affiliated genes

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MGI Mouse Phenotypes related to Congenital Rubella:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053768.0CAT, CD40LG, TPO, UNG

Publications for Congenital Rubella

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Articles related to Congenital Rubella:

(show top 50)    (show all 546)
idTitleAuthorsYear
1
Epidemiologic Surveillance on Measles, Rubella and Congenital Rubella Syndrome. Spain]. (26580792)
2015
2
Nitric oxide-sensitive pulmonary hypertension in congenital rubella syndrome. (25785205)
2015
3
Pathogenesis of Congenital Rubella Virus Infection in Human Fetuses: Viral Infection in the Ciliary Body Could Play an Important Role in Cataractogenesis. (26137534)
2015
4
Congenital rubella syndrome: a review of laboratory data from 2002 to 2011. (24050074)
2013
5
Implications of spatially heterogeneous vaccination coverage for the risk of congenital rubella syndrome in South Africa. (23152104)
2013
6
Letter to the editor: commitment needed for the prevention of congenital rubella syndrome in Europe. (22433598)
2012
7
Congenital rubella syndrome and autism spectrum disorder prevented by rubella vaccination--United States, 2001-2010. (21592401)
2011
8
Rubella metapopulation dynamics and importance of spatial coupling to the risk of congenital rubella syndrome in Peru. (20659931)
2011
9
Surveillance and control of rubella in the republic of Korea from 2001 to 2009: the necessity for enhanced surveillance to monitor congenital rubella syndrome. (24159436)
2010
10
Congenital rubella syndrome with autistic disorder. (20171592)
2010
11
Antenatal diagnostic problem of congenital rubella. (20091360)
2010
12
A cost-utility analysis of antenatal screening to prevent congenital rubella syndrome. (20018128)
2010
13
Prevention of congenital rubella and congenital varicella in Europe. (19371507)
2009
14
Prevention of congenital rubella and congenital varicella in Europe. (19317971)
2009
15
Prevention of congenital rubella syndrome. (19030469)
2007
16
Application of molecular and serological assays to case based investigations of rubella and congenital rubella syndrome. (17516526)
2007
17
Prevalence of eye signs in congenital rubella syndrome in South India: a role for population screening. (17947267)
2007
18
Active surveillance for congenital rubella syndrome in Yangon, Myanmar. (16501710)
2006
19
In vivo confocal microscopy in congenital rubella keratopathy. (15803165)
2006
20
Frontal-dominant white matter lesions following congenital rubella and cytomegalovirus infection. (16602852)
2006
21
Forty-year observation of 280 Japanese patients with congenital rubella syndrome. (16123517)
2005
22
Congenital rubella syndrome due to infection after maternal antibody conversion with vaccine. (12824690)
2003
23
Congenital rubella: down but not out. (12241854)
2002
24
Congenital rubella syndrome in Haiti (Short communication). (12431359)
2002
25
Incidence of congenital rubella syndrome at a hospital serving a predominantly Hispanic population, El Paso, Texas. (11230621)
2001
26
Prevention of congenital rubella syndrome. (20212977)
1999
27
The epidemiology of rubella and congenital rubella in Australia, 1992 to 1997. (10497832)
1999
28
Circumscribed scleroderma in congenital rubella syndrome with hypogammaglobulinemia. (9821485)
1998
29
Use of PCR for prenatal and postnatal diagnosis of congenital rubella. (8576339)
1995
30
Congenital rubella syndrome. (8110709)
1994
31
Increase in rubella and congenital rubella syndrome--United States, 1988-1990. (1899464)
1991
32
Gregg and congenital rubella: lessons from history and clinical research. (1789960)
1991
33
Ventriculitis in congenital rubella: ultrasound demonstration. (3306592)
1987
34
Congenital rubella syndrome in Malaysia. (3831727)
1985
35
Delayed manifestations of congenital rubella. (4001724)
1985
36
Congenital rubella syndrome in Nova Scotia. (4027829)
1985
37
Epidemiology of congenital rubella and results of rubella vaccination in Australia. (3890106)
1985
38
Epidemiology of prenatal infections: an extension of the congenital rubella model. (6648116)
1983
39
The HLA system in congenital rubella patients with and without diabetes. (6959935)
1982
40
Congenital rubella syndrome: a continuing problem. (6799666)
1982
41
Congenital rubella after successful vaccination. (7099094)
1982
42
Keratoconus and acute hydrops in mentally retarded patients with congenital rubella syndrome. (7468739)
1981
43
Congenital rubella in an Indochinese refugee in Manitoba. (20313556)
1981
44
The devastating effects of congenital rubella. (106205)
1979
45
Behavioral consequences of congenital rubella. (702254)
1978
46
Nuclear and cytoplasmic immunofluorescence in the cerebrospinal fluid cells from a neonate with congenital rubella. (347227)
1977
47
Prenatal diagnosis of congenital rubella. (843835)
1977
48
Diabetes mellitus and congenital rubella: report of a case. (302908)
1977
49
Congenital rubella--an encapsulated review. (960007)
1976
50
Aqueductal occlusion in the congenital rubella syndrome. (4543944)
1974

Variations for Congenital Rubella

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Expression for genes affiliated with Congenital Rubella

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Search GEO for disease gene expression data for Congenital Rubella.

Pathways for genes affiliated with Congenital Rubella

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Pathways related to Congenital Rubella according to GeneCards Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
19.3CD40LG, UNG

GO Terms for genes affiliated with Congenital Rubella

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Cellular components related to Congenital Rubella according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1mitochondrionGO:00057398.6CAT, TPO, UNG
2extracellular spaceGO:00056158.2CAT, CD40LG, TPO

Biological processes related to Congenital Rubella according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1hydrogen peroxide catabolic processGO:00427449.6CAT, TPO
2cellular oxidant detoxificationGO:00988699.5CAT, TPO
3positive regulation of NF-kappaB transcription factor activityGO:00510929.4CAT, CD40LG
4negative regulation of apoptotic processGO:00430668.8CAT, CD40LG, UNG

Molecular functions related to Congenital Rubella according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1heme bindingGO:00200379.1CAT, TPO

Sources for Congenital Rubella

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet