MCID: CNG069
MIFTS: 42

Congenital Cytomegalovirus malady

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

Summaries for Congenital Cytomegalovirus

About this section


MalaCards based summary: Congenital Cytomegalovirus, also known as fetal cytomegalovirus syndrome, is related to sensorineural hearing loss and hepatitis, and has symptoms including sensorineural hearing impairment, abnormality of the eye and splenomegaly. An important gene associated with Congenital Cytomegalovirus is GJB2 (gap junction protein, beta 2, 26kDa), and among its related pathways are Gap junction trafficking and Signaling in Gap Junctions. The compounds 10panx and gap 27 have been mentioned in the context of this disorder. Affiliated tissues include brain, eye and liver.

Aliases & Classifications for Congenital Cytomegalovirus

About this section
Sources:
41NIH Rare Diseases, 47Orphanet, 60UMLS, 26ICD10 via Orphanet, 61UMLS via Orphanet
See all sources

Congenital Cytomegalovirus, Aliases & Descriptions:

Name: Congenital Cytomegalovirus 41
Fetal Cytomegalovirus Syndrome 41 47 60
 
Cytomegalovirus Antenatal Infection 41 47
Cmv Antenatal Infection 41 47


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Rare diseases, Fetal diseases, Infectious diseases
Anatomical: Neuronal diseases


Characteristics (Orphanet epidemiological data):

47
fetal cytomegalovirus syndrome:
Inheritance: Not applicable; Age of onset: Infancy,Neonatal; Age of death: normal life expectancy


External Ids:

Orphanet47 294
ICD10 via Orphanet26 P35.1
UMLS via Orphanet61 C0349499

Related Diseases for Congenital Cytomegalovirus

About this section

Diseases related to Congenital Cytomegalovirus via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 82)
idRelated DiseaseScoreTop Affiliating Genes
1sensorineural hearing loss31.0GJB6, GJB2
2hepatitis30.1GPT, CD40LG
3thrombocytopenia29.7CD40LG, GPT
4cytomegalovirus infection11.3
5cmv antenatal infection10.5
6cerebritis10.4
7ectodermal dysplasia10.4GJB2
8cholecystitis10.4GPT
9viral hepatitis10.3GPT
10cerebral palsy10.2
11chorioretinitis10.2
12bart-pumphrey syndrome10.2GJB6, GJB2
13dfnb 1 nonsyndromic hearing loss and deafness10.2GJB6, GJB2
14dfna 3 nonsyndromic hearing loss and deafness10.2GJB6, GJB2
15hemorrhagic fever10.2CD40LG
16dfnb110.2GJB6, GJB2
17ectodermal dysplasia 2, clouston type10.2GJB6, GJB2
18deafness, autosomal recessive 4, with enlarged vestibular aqueduct10.2GJB6, GJB2
19retinitis10.2
20cytomegalovirus retinitis10.2
21nonsyndromic deafness10.1GJB2, GJB6
22pulmonary hypertension10.1
23hydrocephalus10.1
24labyrinthitis10.1
25oligohydramnios10.1
26pneumonia10.1
27neonatal herpes10.1
28hepatitis e10.0GPT, CD40LG
29scrub typhus10.0GPT, CD40LG
30autoimmune hepatitis9.9CD40LG, GPT
31systemic lupus erythematosus9.9
32schizencephaly9.9
33wiskott-aldrich syndrome9.9
34bacteremia9.9
35twin-to-twin transfusion syndrome9.9
36autistic disorder9.9
37dilated cardiomyopathy9.9
38leukemia9.9
39neutropenia9.9
40diabetes insipidus9.9
41neuronitis9.9
42microcephaly9.9
43microphthalmia9.9
44acquired immunodeficiency syndrome9.9
45parotitis9.9
46horner's syndrome9.9
47hydranencephaly9.9
48leukemoid reaction9.9
49periventricular leukomalacia9.9
50angiosarcoma9.9

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



Diseases related to congenital cytomegalovirus

Symptoms for Congenital Cytomegalovirus

About this section

Symptoms:

 47 (show all 7)
  • anomalies of eyes and vision
  • sensorineural deafness/hearing loss
  • antenatal exposure : cytomegalovirus
  • hepatomegaly/liver enlargement (excluding storage disease)
  • splenomegaly
  • anaemia
  • clotting/hemostasis disorders

HPO human phenotypes related to Congenital Cytomegalovirus:

(show all 6)
id Description Frequency HPO Source Accession
1 sensorineural hearing impairment hallmark (90%) HP:0000407
2 abnormality of the eye hallmark (90%) HP:0000478
3 splenomegaly typical (50%) HP:0001744
4 anemia typical (50%) HP:0001903
5 abnormality of coagulation typical (50%) HP:0001928
6 hepatomegaly typical (50%) HP:0002240

Drugs & Therapeutics for Congenital Cytomegalovirus

About this section

Drug clinical trials:

Search ClinicalTrials for Congenital Cytomegalovirus

Search NIH Clinical Center for Congenital Cytomegalovirus

Genetic Tests for Congenital Cytomegalovirus

About this section

Anatomical Context for Congenital Cytomegalovirus

About this section

MalaCards organs/tissues related to Congenital Cytomegalovirus:

31
Brain, Eye, Liver, Testes, Lung, Placenta, Fetal brain, Bone marrow, Bone, Thyroid, Breast, T cells, Temporal lobe

Animal Models for Congenital Cytomegalovirus or affiliated genes

About this section

Publications for Congenital Cytomegalovirus

About this section

Articles related to Congenital Cytomegalovirus:

(show top 50)    (show all 526)
idTitleAuthorsYear
1
Ganciclovir penetrates into the cerebrospinal fluid of an infant with congenital cytomegalovirus infection. (25888518)
2015
2
Unusually difficult clinical presentation of an infant suffering from congenital cytomegalovirus (CMV) infection combined with alpha 1-antitrypsin (A1AT) deficiency. (25351359)
2014
3
Clinical features of cerebral palsy in children with symptomatic congenital cytomegalovirus infection. (24931914)
2014
4
Congenital cytomegalovirus: what the otolaryngologist should know. (25222916)
2014
5
Congenital cytomegalovirus is the second most frequent cause of bilateral hearing loss in young French children. (23022111)
2013
6
Newborn screening of congenital cytomegalovirus infection using saliva can be influenced by breast feeding. (22874907)
2013
7
Congenital cytomegalovirus infection and finger anomaly. (23761501)
2013
8
Late-onset sensorineural hearing loss due to congenital cytomegalovirus infection: could head injury be a trigger? (23025246)
2013
9
Neonatal Screening for Congenital Cytomegalovirus Infection in Preterm and Small for Gestational Age Infants. (24328547)
2013
10
The apparent paradox of maternal seropositivity as a risk factor for congenital cytomegalovirus infection: a population-based prediction model. (23559569)
2013
11
Congenital cytomegalovirus infection associated with development of neonatal emphysematous lung disease. (22605840)
2012
12
A trial of immunoglobulin fetal therapy for symptomatic congenital cytomegalovirus infection. (22884280)
2012
13
Congenital cytomegalovirus infection following antenatal negative diagnostic amniotic fluid analysis - a single center experience. (22489602)
2012
14
A rare case of congenital cytomegalovirus infection in pregnancy. (23372295)
2012
15
Life-threatening intracranial bleeding in a newborn with congenital cytomegalovirus infection: late-onset neonatal hemorrhagic disease. (21083361)
2011
16
Valganciclovir treatment in a 6-month-old infant with asymptomatic congenital cytomegalovirus infection and late hearing loss. (22105427)
2011
17
Outcome of cochlear implantation in asymptomatic congenital cytomegalovirus deafened children. (21792969)
2011
18
Malformations of cortical development in children with congenital cytomegalovirus infection - A study of nine children with proven congenital cytomegalovirus infection. (21648339)
2011
19
Late-onset sensorineural hearing loss due to asymptomatic congenital cytomegalovirus infection retrospectively diagnosed by polymerase chain reaction using preserved umbilical cord. (20837611)
2011
20
Brain magnetic resonance findings in symptomatic congenital cytomegalovirus infection. (21597906)
2011
21
Congenital cytomegalovirus infection: treatment, sequelae and follow-up. (20807160)
2010
22
Congenital cytomegalovirus infection. (20840266)
2010
23
Congenital cytomegalovirus infection associated with severe lung involvement in a preterm neonate: a causal relationship? (19224246)
2009
24
Newborn screening for congenital cytomegalovirus: Options for hospital-based and public health programs. (19783205)
2009
25
Rehabilitation and outcome of severe profound deafness in a group of 16 infants affected by congenital cytomegalovirus infection. (19283400)
2009
26
Microphthalmia and microcornea: in congenital cytomegalovirus. (19574708)
2009
27
Retrospective diagnosis of congenital cytomegalovirus infection at a school for the deaf by using preserved dried umbilical cord. (19840618)
2009
28
Epidemiological impact and disease burden of congenital cytomegalovirus infection in Europe. (19317969)
2009
29
A 10-year prospective study of sensorineural hearing loss in children with congenital cytomegalovirus infection. (18571542)
2008
30
Late onset of ultrasound abnormalities in a case of periconceptional congenital cytomegalovirus infection. (18383478)
2008
31
Recent advances in the prevention and treatment of congenital cytomegalovirus infections. (17317422)
2007
32
Nonprimate models of congenital cytomegalovirus (CMV) infection: gaining insight into pathogenesis and prevention of disease in newborns. (16391432)
2006
33
Screening for congenital cytomegalovirus infection: a tapestry of controversies. (15689898)
2005
34
Congenital cytomegalovirus infection and its prevention. (15034840)
2004
35
Epidemiology, pathogenesis and prevention of congenital cytomegalovirus infection. (15566332)
2004
36
Birth characteristics and growth pattern in children with congenital cytomegalovirus infection. (14714744)
2003
37
Congenital Cytomegalovirus Infection. (11931729)
2002
38
Congenital cytomegalovirus infection in a northern Italian region. NEOCMV Group. (9928874)
1998
39
Congenital cytomegalovirus infection presenting as severe persistent pulmonary hypertension of the newborn. (9659657)
1998
40
Schizencephaly and congenital cytomegalovirus infection. (9763793)
1998
41
Diagnosis of congenital cytomegalovirus infection by examination of placenta: application of polymerase chain reaction and in situ hybridization. (9086531)
1997
42
Immunization strategy for prevention of congenital cytomegalovirus infection. (8884369)
1996
43
Reduced congenital cytomegalovirus (CMV) infection after maternal immunization with a guinea pig CMV glycoprotein before gestational primary CMV infection in the guinea pig model. (7594656)
1995
44
Congenital cytomegalovirus infection: a case report. (8169681)
1994
45
Prenatal diagnosis of 52 pregnancies at risk for congenital cytomegalovirus infection. (8397357)
1993
46
Congenital cytomegalovirus infection in Korean population with very high prevalence of maternal immunity. (1329845)
1992
47
Prenatal diagnosis of congenital cytomegalovirus infection by virus isolation from amniotic fluid. (2171339)
1990
48
Congenital cytomegalovirus infection associated with fetal ascites and intrahepatic calcifications. (2557722)
1989
49
Cyclopia and congenital cytomegalovirus infection. (2823607)
1987
50
Congenital cytomegalovirus infection and maternal systemic lupus erythematosus: a case report. (3022760)
1986

Variations for Congenital Cytomegalovirus

About this section

Expression for genes affiliated with Congenital Cytomegalovirus

About this section
Search GEO for disease gene expression data for Congenital Cytomegalovirus.

Pathways for genes affiliated with Congenital Cytomegalovirus

About this section

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

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.6GJB2, GJB6
2
Show member pathways
9.6GJB2, GJB6
3
Show member pathways
Cytoplasmic Ribosomal Proteins36
9.5MT-RNR1, RNR1

Compounds for genes affiliated with Congenital Cytomegalovirus

About this section

Compounds related to Congenital Cytomegalovirus according to GeneCards Suite gene sharing:

(show all 23)
idCompoundScoreTop Affiliating Genes
110panx5910.0GJB2, GJB6
2gap 275910.0GJB6, GJB2
3carbenoxolone disodium5910.0GJB6, GJB2
4scrambled 10panx5910.0GJB6, GJB2
5octanol28 2411.0GJB2, GJB6
6carbenoxolone43 28 1212.0GJB6, GJB2
7ca2+2810.0GJB2, GJB6
8flufenamic acid28 43 2 1212.9GJB2, GJB6
9asparagine439.3GJB2, GPT
10ursodeoxycholic acid43 24 1211.3GPT, CD40LG
11valproate439.3CD40LG, GPT
12mycophenolate mofetil43 49 1211.3CD40LG, GPT
13fenofibrate43 49 1211.3GPT, CD40LG
14ivig439.3CD40LG, GPT
15ribavirin43 49 1211.3CD40LG, GPT
16vitamin b12439.2CD40LG, GPT
17neopterin439.2CD40LG, GPT
18pravastatin43 49 28 24 1213.1GPT, CD40LG
19atorvastatin43 49 28 24 1213.0CD40LG, GPT
20hyaluronic acid43 2410.0CD40LG, GPT
21cocaine43 129.9GPT, CD40LG
22aspartate438.9GPT, GJB2, CD40LG
23thyroxine43 249.7CD40LG, GPT

GO Terms for genes affiliated with Congenital Cytomegalovirus

About this section

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

idNameGO IDScoreTop Affiliating Genes
1connexon complexGO:00059229.6GJB2, GJB6

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

idNameGO IDScoreTop Affiliating Genes
1sensory perception of soundGO:00076059.6GJB2, GJB6

Products for genes affiliated with Congenital Cytomegalovirus

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Congenital Cytomegalovirus

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet