MCID: CNG124
MIFTS: 43

Congenital Rubella malady

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

Aliases & Classifications for Congenital Rubella

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

Aliases & Descriptions for Congenital Rubella:

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

Characteristics:

Orphanet epidemiological data:

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

Classifications:



External Ids:

Orphanet51 290
ICD10 via Orphanet28 P35.0
MESH via Orphanet37 D012410
UMLS via Orphanet66 C0035921
ICD1027 P35.0
UMLS65 C0035921

Summaries for Congenital Rubella

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Wikipedia:68 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 craniosynostosis, type 1 and ichthyosis vulgaris, 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, breast and liver, 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:

 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, Breast, Liver, Lung, Endothelial, Brain, Heart

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:00053768.0CAT, CD40LG, TPO, UNG

Publications for Congenital Rubella

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Articles related to Congenital Rubella:

(show top 50)    (show all 534)
idTitleAuthorsYear
1
Acute onset of postoperative syringohydromyelia. (26557165)
2015
2
The ratio of high-density lipoprotein cholesterol to apolipoprotein A-I predicts myocardial injury following elective percutaneous coronary intervention. (25113039)
2014
3
Cervical spinal cord compression caused by X-linked hypophosphatemic rickets with a novel PHEX mutation. (25237965)
2014
4
Successful treatment of Salmonella aortitis with endovascular aortic repair and antibiotic therapy. (24916982)
2014
5
Impact of the Arthritis Foundation's Walk With Ease Program on Arthritis Symptoms in African Americans. (25393747)
2014
6
Mesenteric paraganglioma: Report of a case. (23556063)
2013
7
Copeptin is a predictive biomarker of severity in acute pancreatitis. (23332738)
2013
8
Prophylactic effect of lamivudine-based antiretroviral therapy on incident hepatitis B virus infection among HIV-infected patients. (23926178)
2013
9
IL-33-responsive innate lymphoid cells are an important source of IL-13 in chronic rhinosinusitis with nasal polyps. (23805875)
2013
10
Functional modulation of vascular adhesion protein-1 by a novel splice variant. (23349812)
2013
11
A rare case of survival from primary amebic meningoencephalitis. (22557831)
2012
12
Serum levels of lipoxin A(4) do not predict the development of subsequent asthma among young children with acute bronchiolitis. (21671842)
2011
13
Nutrition and food skills education for adults with developmental disabilities. (21382225)
2011
14
Cadherins and Pak1 control contact inhibition of proliferation by Pak1-betaPIX-GIT complex-dependent regulation of cell-matrix signaling. (20154149)
2010
15
The G protein-coupled receptor GPR30 inhibits proliferation of estrogen receptor-positive breast cancer cells. (20086172)
2010
16
Podoplanin expression in tumor-free resection margins of oral squamous cell carcinomas: an immunohistochemical and fractal analysis study. (20376776)
2010
17
Acetylcholinesterase inhibitory potential of a carbazole alkaloid, mahanimbine, from Murraya koenigii. (19943242)
2010
18
A ganglioneuroma of the sigmoid colon presenting as leading point of intussusception in a child: a case report. (19159704)
2009
19
Obesity and cardiovascular disease: risk factor, paradox, and impact of weight loss. (19460605)
2009
20
Extremely high frequency of autoimmune-predisposing alleles in medieval specimens. (17610332)
2007
21
Feline immunodeficiency virus tropism]. (18040157)
2007
22
Phosphatidylinositol 3-kinase/Akt signaling mediates interleukin-6 protection against p53-induced apoptosis in M1 myeloid leukemic cells. (17099722)
2007
23
Erythropoietin as a retinal angiogenic factor in proliferative diabetic retinopathy]. (18051819)
2007
24
Antioxidant defenses preserve membrane transport activity in Chironomus riparius larvae exposed to anoxia. (17630655)
2007
25
Inhibition of germline proliferation during C. elegans dauer development requires PTEN, LKB1 and AMPK signalling. (16407400)
2006
26
Severe acute respiratory syndrome coronavirus 7a accessory protein is a viral structural protein. (16840309)
2006
27
Assessing the effects of LXR agonists on cellular cholesterol handling: a stable isotope tracer study. (16567856)
2006
28
Aging and oxidative stress in progressive supranuclear palsy. (16420399)
2006
29
Diagnostic Value of PET in Cardiac Sarcoidosis. (15534072)
2004
30
Loss of circulating CD27+ memory B cells and CCR4+ T cells occurring in association with elevated EBV loads in XLP patients surviving primary EBV infection. (14604960)
2004
31
Relationship between natriuretic peptides and residual diuresis during continuous hemodiafiltration. (14586183)
2003
32
Progress toward poliomyelitis eradication--Southern Africa, 2001-March 2003. (12803199)
2003
33
Acute myelomonocytic leukemia with histologic features resembling sarcomatoid carcinoma in bone marrow. (10656748)
2000
34
pH-responsive pseudo-peptides for cell membrane disruption. (11064136)
2000
35
Expression of PRAD1/cyclin D1 in plasma cell malignancy: incidence and prognostic aspects. (10086803)
1999
36
Differentiation of blood-brain barrier endothelial cells. (9769912)
1998
37
Increases in DNA lesions and the DNA damage indicator Gadd45 following transient cerebral ischemia. (9493961)
1997
38
Acral peeling skin syndrome. (9126018)
1997
39
Less induced 1-methyl-4-phenylpyridinium ion neurotoxicity on striatal slices from guinea-pigs fed with a vitamin C-deficient diet. (9044384)
1997
40
Biochemical markers of trisomy 21 and the pathophysiology of Down's syndrome pregnancies. (9358574)
1997
41
Thyroid hormone receptor beta2 promoter activity in pituitary cells is regulated by Pit-1. (8798664)
1996
42
Effect of interleukin 1, lipopolysaccharide and phorbol esters on phospholipase D activity in chondrocytes. (11550712)
1994
43
Repeated treatment with chimeric anti-CD4 antibody in multiple sclerosis. (8053654)
1994
44
Intraretinal study of cat electroretinogram during retinal ischemia-reperfusion with extracellular K+ concentration microelectrodes. (8113017)
1994
45
Early treatment of juvenile xanthogranuloma of the iris with subconjunctival steroids. (8435403)
1993
46
Random mutagenesis of CSF-1 receptor (FMS) reveals multiple sites for activating mutations within the extracellular domain. (1531631)
1992
47
Pheochromocytoma and Conn's syndrome in Denmark 1977-1981. (3472432)
1986
48
Treatment of laryngeal papillomatosis. (6109213)
1980
49
Approach to bladder neck and urethral obstruction in women. (4707075)
1973
50
Renal tuberculosis. (5852687)
1965

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:00057399.1CAT, TPO

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

idNameGO IDScoreTop Affiliating Genes
1positive regulation of NF-kappaB transcription factor activityGO:00510929.6CAT, CD40LG
2cellular oxidant detoxificationGO:00988699.4CAT, TPO
3response to oxidative stressGO:00069799.4CAT, TPO
4oxidation-reduction processGO:00551149.1CAT, TPO
5negative regulation of apoptotic processGO:00430669.0CAT, CD40LG, UNG

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