MCID: CNG124
MIFTS: 47

Congenital Rubella malady

Rare diseases, Fetal diseases, Neuronal diseases, Infectious diseases, Skin diseases categories

Aliases & Classifications for Congenital Rubella

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Sources:
45NIH Rare Diseases, 51Orphanet, 40NCBI Bookshelf, 65UMLS, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet, 27ICD10
See all sources

Aliases & Descriptions for Congenital Rubella:

Name: Congenital Rubella 45
Congenital Rubella Syndrome 45 51 65
Crs 45 40
 
Rubella Congenital 45
Craniosynostosis 65


Classifications:



Characteristics (Orphanet epidemiological data):

51
congenital rubella syndrome:
Inheritance: Not applicable; Prevalence: 1-9/1000000 (Worldwide); Age of onset: Neonatal


External Ids:

Orphanet51 290
ICD10 via Orphanet28 P35.0
MESH via Orphanet37 D012410
UMLS via Orphanet66 C0035921
ICD1027 P35.0

Summaries for Congenital Rubella

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CDC:2 NIOSH Pocket Guide to Chemical HazardsExposure limits, Respirator Recommendations, First Aid, more...The Pocket Guide is a source of general industrial hygiene information on several hundred chemicals/classes found in the work environment. Key data provided for each chemical/substance includes name (including synonyms/trade names), structure/formula, CAS/RTECS Numbers, DOT ID, conversion factors, exposure limits, IDLH, chemical and physical properties, measurement methods, personal protection, respirator recommendations, symptoms, and first aid.

MalaCards based summary: Congenital Rubella, also known as congenital rubella syndrome, is related to rubella and measles, and has symptoms including sensorineural hearing impairment, cataract and intrauterine growth retardation. An important gene associated with Congenital Rubella is FGFR3 (Fibroblast Growth Factor Receptor 3), and among its related pathways is Primary immunodeficiency. Affiliated tissues include skin, liver and thyroid, and related mouse phenotypes are tumorigenesis and hematopoietic system.

Wikipedia:68 Congenital rubella syndrome (CRS) can occur in a developing fetus of a pregnant woman who has contracted... more...

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:

 51 (show all 32)
  • cataract/lens opacification
  • sensorineural deafness/hearing loss
  • speech troubles/aphasia/dysphasia/echolalia/mutism/logorrhea/dysprosodia
  • intrauterine growth retardation
  • antenatal exposure : rubella
  • microcephaly
  • large fontanelle/delayed fontanelle closure
  • anophthalmos/anophthalmia/microphthalmos/microphthalmia
  • glaucoma
  • aniridia/iris hypoplasia
  • retinitis pigmentosa/retinal pigmentary changes
  • visual loss/blindness/amblyopia
  • strabismus/squint
  • nystagmus
  • cutaneous rash
  • hepatomegaly/liver enlargement (excluding storage disease)
  • splenomegaly
  • pulmonary artery stenosis/absence/hypoplasia of the pulmonary branches
  • atrial septal defect/interauricular communication
  • ventricular septal defect/interventricular communication
  • patent ductus arteriosus
  • hypotonia
  • hypertonia/spasticity/rigidity/stiffness
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • anaemia
  • thrombocytopenia/thrombopenia
  • short stature/dwarfism/nanism
  • corneal clouding/opacity/vascularisation
  • hepatitis/icterus/cholestasis
  • insulin-dependent/type 1 diabetes
  • seizures/epilepsy/absences/spasms/status epilepticus
  • metaphyseal anomaly

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

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:

33
Skin, Liver, Thyroid, T cells, Eye, Testes, Brain

Animal Models for Congenital Rubella or affiliated genes

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MGI Mouse Phenotypes related to Congenital Rubella:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00020068.9CAT, FGFR3, UNG
2MP:00053978.1CD40LG, FGFR3, TPO, UNG
3MP:00107687.6CAT, CD40LG, FGFR3, TPO, UNG
4MP:00053767.2CAT, CD40LG, FGFR3, TPO, UNG

Publications for Congenital Rubella

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Articles related to Congenital Rubella:

(show top 50)    (show all 533)
idTitleAuthorsYear
1
Magnetic resonance imaging findings in a case of congenital rubella encephalitis. (24489572)
2013
2
Congenital rubella syndrome: a review of laboratory data from 2002 to 2011. (24050074)
2013
3
Ongoing outbreak of rubella among young male adults in Poland: increased risk of congenital rubella infections. (23725976)
2013
4
Case report: congenital rubella syndrome: a rare but persistent concern in the United States. (24169928)
2013
5
Congenital rubella syndrome and left pulmonary artery sling. (22298614)
2012
6
Letter to the editor: commitment needed for the prevention of congenital rubella syndrome in Europe. (22433598)
2012
7
Congenital rubella syndrome: a continuing conundrum. (22633034)
2012
8
Congenital rubella syndrome and autism spectrum disorder prevented by rubella vaccination--United States, 2001-2010. (21592401)
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
Prevention of congenital rubella and congenital varicella in Europe. (19371507)
2009
13
Prevention of congenital rubella and congenital varicella in Europe. (19317971)
2009
14
Active surveillance for congenital rubella syndrome in Yangon, Myanmar. (16501710)
2006
15
In vivo confocal microscopy in congenital rubella keratopathy. (15803165)
2006
16
The epidemiological profile of rubella and congenital rubella syndrome in the United States, 1998-2004: the evidence for absence of endemic transmission. (16998771)
2006
17
Frontal-dominant white matter lesions following congenital rubella and cytomegalovirus infection. (16602852)
2006
18
Progress toward elimination of measles and prevention of congenital rubella infection--European region, 1990-2004. (15729220)
2005
19
Accelerated control of rubella and prevention of congenital rubella syndrome, WHO Region of the Americas. (12696443)
2003
20
Congenital rubella syndrome due to infection after maternal antibody conversion with vaccine. (12824690)
2003
21
Incidence of congenital rubella syndrome at a hospital serving a predominantly Hispanic population, El Paso, Texas. (11230621)
2001
22
Prevention of congenital rubella syndrome. (20212977)
1999
23
Use of PCR for prenatal and postnatal diagnosis of congenital rubella. (8576339)
1995
24
Congenital rubella syndrome. (8110709)
1994
25
Rubella surveillance to december 1990: a joint report from the PHLS and National Congenital Rubella Surveillance Programme. (1669769)
1991
26
Increase in rubella and congenital rubella syndrome--United States, 1988-1990. (1899464)
1991
27
Gregg and congenital rubella: lessons from history and clinical research. (1789960)
1991
28
Congenital rubella syndrome in the United States, 1970-1985. On the verge of elimination. (2912045)
1989
29
Ventriculitis in congenital rubella: ultrasound demonstration. (3306592)
1987
30
Congenital rubella in babies of south Asian women in England and Wales. (3107714)
1987
31
Congenital rubella syndrome in Malaysia. (3831727)
1985
32
Delayed manifestations of congenital rubella. (4001724)
1985
33
Congenital rubella syndrome in Nova Scotia. (4027829)
1985
34
Epidemiology of congenital rubella and results of rubella vaccination in Australia. (3890106)
1985
35
Birth and death of congenital rubella syndrome. (6700106)
1984
36
Rubella and congenital rubella surveillance, 1983. (6443222)
1984
37
Preventing the congenital rubella syndrome by vaccinating women at risk. (6861052)
1983
38
The HLA system in congenital rubella patients with and without diabetes. (6959935)
1982
39
Congenital rubella syndrome: a continuing problem. (6799666)
1982
40
Congenital rubella, insulitis, and diabetes mellitus in an infant. (6112424)
1981
41
Keratoconus and acute hydrops in mentally retarded patients with congenital rubella syndrome. (7468739)
1981
42
Congenital rubella in an Indochinese refugee in Manitoba. (20313556)
1981
43
Impaired cell-mediated immune response in patients with congenital rubella: correlation with gestational age at time of infection. (386238)
1979
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
Congenital rubella: the teenage years. (579450)
1977
48
Follow-up report on autism in congenital rubella. (576606)
1977
49
Impaired cellular immunity to rubella virus in congenital rubella. (4808855)
1974
50
Aqueductal occlusion in the congenital rubella syndrome. (4543944)
1974

Variations for Congenital Rubella

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Clinvar genetic disease variations for Congenital Rubella:

5
id Gene Variation Type Significance SNP ID Assembly Location
1FGFR3NM_000142.4(FGFR3): c.1172C> A (p.Ala391Glu)single nucleotide variantPathogenicrs28931615GRCh37Chr 4, 1806153: 1806153
2FGFR3NM_000142.4(FGFR3): c.749C> G (p.Pro250Arg)single nucleotide variantPathogenicrs4647924GRCh37Chr 4, 1803571: 1803571

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 pathways (with members indented)ScoreTop Affiliating Genes
19.3CD40LG, UNG

GO Terms for genes affiliated with Congenital Rubella

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

idNameGO IDScoreTop Affiliating Genes
1hydrogen peroxide catabolic processGO:00427449.1CAT, TPO
2response to oxidative stressGO:00069798.8CAT, TPO

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
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet