CRS
MCID: CNG124
MIFTS: 58

Congenital Rubella (CRS) malady

Rare diseases, Fetal diseases, Neuronal diseases, Infectious diseases, Skin diseases categories
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Summaries for Congenital Rubella

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CDC:3 CRE, which stands for carbapenem-resistant Enterobacteriaceae, are a family of germs that are difficult to treat because they have high levels of resistance to antibiotics. Klebsiella species and Escherichia coli (E. coli) are examples of Enterobacteriaceae, a normal part of the human gut bacteria, that can become carbapenem-resistant. Types of CRE are sometimes known as KPC (Klebsiella pneumoniae carbapenemase) and NDM (New Delhi Metallo-beta-lactamase). KPC and NDM are enzymes that break down carbapenems and make them ineffective. Both of these enzymes, as well as the enzyme VIM (Verona Integron-Mediated Metallo-β-lactamase) have also been reported in Pseudomonas.

MalaCards based summary: Congenital Rubella, also known as congenital rubella syndrome, is related to rubella and encephalitis, and has symptoms including cataract/lens opacification, sensorineural deafness/hearing loss and speech troubles/aphasia/dysphasia/echolalia/mutism/logorrhea/dysprosodia. An important gene associated with Congenital Rubella is UNG (uracil-DNA glycosylase), and among its related pathways are Glucose / Energy Metabolism and Primary immunodeficiency. The compounds deoxyribose and hypoxanthine have been mentioned in the context of this disorder. Affiliated tissues include liver, thyroid and eye, and related mouse phenotypes are immune system and homeostasis/metabolism.

Wikipedia:65 Congenital rubella syndrome (CRS) can occur in a developing fetus of a pregnant woman who has contracted... more...

Aliases & Classifications for Congenital Rubella

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Sources:
62UMLS, 42NIH Rare Diseases, 48Orphanet, 38NCBI Bookshelf, 63UMLS via Orphanet, 35MESH via Orphanet, 26ICD10 via Orphanet, 25ICD10
See all sources

Congenital Rubella, Aliases & Descriptions:

Name: Congenital Rubella 42
Congenital Rubella Syndrome 42 48 62
Crs 42 38
 
Rubella Congenital 42
Craniosynostosis 62


Classifications:



Characteristics (Orphanet epidemiological data):

48
congenital rubella syndrome:
Inheritance: Sporadic; Age of onset: Neonatal/infancy


External Ids:

UMLS via Orphanet63 C0035921
MESH via Orphanet35 D012410
ICD10 via Orphanet26 P35.0
ICD1025 P35.0

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:

48 (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 defect in the atrial septum 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 abnormal 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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Drug clinical trials:

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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:

32
Liver, Thyroid, Eye, T cells, Brain, Testes, Lymph node, Heart, Salivary gland, Skin, Placenta, Endothelial

Animal Models for Congenital Rubella or affiliated genes

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MGI Mouse Phenotypes related to Congenital Rubella:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053878.1CD40LG, GAD2, TPO, UNG
2MP:00053767.4CD40LG, GAD2, CAT, TPO, UNG
3MP:00107687.2UNG, TPO, CAT, GAD2, CD40LG

Publications for Congenital Rubella

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Articles related to Congenital Rubella:

(show top 50)    (show all 506)
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
Progress toward elimination of measles and prevention of congenital rubella infection--European region, 1990-2004. (15729220)
2005
18
Accelerated control of rubella and prevention of congenital rubella syndrome, WHO Region of the Americas. (12696443)
2003
19
Congenital rubella syndrome due to infection after maternal antibody conversion with vaccine. (12824690)
2003
20
Incidence of congenital rubella syndrome at a hospital serving a predominantly Hispanic population, El Paso, Texas. (11230621)
2001
21
Prevention of congenital rubella syndrome. (20212977)
1999
22
Use of PCR for prenatal and postnatal diagnosis of congenital rubella. (8576339)
1995
23
Congenital rubella syndrome. (8110709)
1994
24
Rubella surveillance to december 1990: a joint report from the PHLS and National Congenital Rubella Surveillance Programme. (1669769)
1991
25
Increase in rubella and congenital rubella syndrome--United States, 1988-1990. (1899464)
1991
26
Gregg and congenital rubella: lessons from history and clinical research. (1789960)
1991
27
Congenital rubella syndrome in the United States, 1970-1985. On the verge of elimination. (2912045)
1989
28
Ventriculitis in congenital rubella: ultrasound demonstration. (3306592)
1987
29
Congenital rubella in babies of south Asian women in England and Wales. (3107714)
1987
30
Congenital rubella syndrome in Malaysia. (3831727)
1985
31
Delayed manifestations of congenital rubella. (4001724)
1985
32
Congenital rubella syndrome in Nova Scotia. (4027829)
1985
33
Epidemiology of congenital rubella and results of rubella vaccination in Australia. (3890106)
1985
34
Birth and death of congenital rubella syndrome. (6700106)
1984
35
Rubella and congenital rubella surveillance, 1983. (6443222)
1984
36
Preventing the congenital rubella syndrome by vaccinating women at risk. (6861052)
1983
37
The HLA system in congenital rubella patients with and without diabetes. (6959935)
1982
38
Congenital rubella syndrome: a continuing problem. (6799666)
1982
39
Congenital rubella, insulitis, and diabetes mellitus in an infant. (6112424)
1981
40
Keratoconus and acute hydrops in mentally retarded patients with congenital rubella syndrome. (7468739)
1981
41
Congenital rubella in an Indochinese refugee in Manitoba. (20313556)
1981
42
Impaired cell-mediated immune response in patients with congenital rubella: correlation with gestational age at time of infection. (386238)
1979
43
The devastating effects of congenital rubella. (106205)
1979
44
Behavioral consequences of congenital rubella. (702254)
1978
45
Nuclear and cytoplasmic immunofluorescence in the cerebrospinal fluid cells from a neonate with congenital rubella. (347227)
1977
46
Congenital rubella: the teenage years. (579450)
1977
47
Follow-up report on autism in congenital rubella. (576606)
1977
48
Congenital rubella--an encapsulated review. (960007)
1976
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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Expression for genes affiliated with Congenital Rubella

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Expression patterns in normal tissues for genes affiliated with Congenital Rubella

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Pathways for genes affiliated with Congenital Rubella

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Compounds for genes affiliated with Congenital Rubella

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Sources:
44Novoseek, 24HMDB, 11DrugBank, 50PharmGKB, 28IUPHAR
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Compounds related to Congenital Rubella according to GeneCards/GeneDecks:

(show all 31)
idCompoundScoreTop Affiliating Genes
1deoxyribose44 2410.9UNG, CAT
2hypoxanthine44 24 1111.8CAT, UNG
3cytidine44 24 1111.7CD40LG, UNG
4levodopa44 1110.7GAD2, CAT
5guaiacol44 2410.5CAT, TPO
6maltose44 1110.5TPO, GAD2
7125i449.5TPO, GAD2
8mannitol44 1110.5CD40LG, CAT
9Hydrogen peroxide249.5TPO, CAT
10selenium44 2410.4CAT, TPO
11c-peptide449.4GAD2, TPO
12uric acid44 2410.4CAT, TPO
13cardiolipin44 1110.4CD40LG, TPO
14formaldehyde44 2410.3CD40LG, CAT
15dithiothreitol449.3TPO, CAT
16vitamin a44 24 1111.3CD40LG, CAT
17agarose449.3TPO, UNG
18folate449.3CD40LG, UNG
19tetracycline44 1110.3CD40LG, TPO
20thyroxine44 2410.1TPO, CD40LG
21hydrogen44 2410.0GAD2, TPO, UNG
22cycloheximide449.0UNG, TPO, CAT
23h2o2449.0CAT, TPO, UNG
24oligonucleotide448.9UNG, TPO, GAD2
25gliadin448.9CD40LG, GAD2, TPO
26ascorbic acid44 249.9CD40LG, CAT, TPO
27acetylcholine44 50 28 24 1112.9CD40LG, GAD2, TPO
28heme28 24 1110.8CAT, TPO
29nitric oxide44 24 1110.8GAD2, CAT, TPO
30glutamate448.4UNG, TPO, GAD2, CD40LG
31cysteine448.4CD40LG, GAD2, CAT, TPO

GO Terms for genes affiliated with Congenital Rubella

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Cellular components related to Congenital Rubella according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1plasma membraneGO:0058868.0CD40LG, GAD2, CAT, TPO

Biological processes related to Congenital Rubella according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1negative regulation of apoptotic processGO:0430668.9CD40LG, CAT, UNG
2hydrogen peroxide catabolic processGO:0427448.8CAT, TPO

Molecular functions related to Congenital Rubella according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1heme bindingGO:0200379.1CAT, TPO

Products for genes affiliated with Congenital Rubella

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  • Antibodies
  • Proteins
  • Lysates

Sources for Congenital Rubella

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet