MCID: CNG418
MIFTS: 26

Congenital Intrauterine Infection-Like Syndrome

Categories: Rare diseases

Aliases & Classifications for Congenital Intrauterine Infection-Like Syndrome

MalaCards integrated aliases for Congenital Intrauterine Infection-Like Syndrome:

Name: Congenital Intrauterine Infection-Like Syndrome 53
Pseudo-Torch Syndrome 53 73
Microcephaly-Intracranial Calcification-Intellectual Disability Syndrome 53
Band-Like Calcification with Simplified Gyration and Polymicrogyria 53
Microcephaly - Intracranial Calcification - Intellectual Disability 53
Bilateral Band-Like Calcification with Polymicrogyria 53
Baraitser Brett Piesowicz Syndrome 73
Baraitser-Brett-Piesowicz Syndrome 53
Baraitser-Reardon Syndrome 53
Blc-Pmg 53
Blcpmg 53

Classifications:



Summaries for Congenital Intrauterine Infection-Like Syndrome

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 1229Disease definitionCongenital intrauterine infection-like syndrome is characterised by the presence of microcephaly and intracranial calcifications at birth accompanied by neurological delay, seizures and a clinical course similar to that seen in patients after intrauterine infection with Toxoplasma gondii, Rubella, Cytomegalovirus, Herpes simplex (so-called TORCH syndrome), or other agents, despite repeated tests revealing the absence of any known infectious agent.EpidemiologyMore than 30 cases have been described in the literature so far.Clinical descriptionThe clinical presentation of the reported cases is rather heterogeneous with variable manifestations including intrauterine growth retardation, hepatosplenomegaly, hyperbilirubinaemia, cerebellar hypoplasia or atrophy, and congenital cataract. Affected individuals with associated thrombocytopaenia have also been reported but it has been suggested that these patients may have a distinct subtype.EtiologyThe cause remains unknown.Diagnostic methodsDiagnosis relies on the clinical picture and requires exclusion of intrauterine infections.Differential diagnosisCongenital intrauterine infection-like syndrome shows considerable clinical overlap with Aicardi-Goutieres syndrome (AGS, see this term). The two syndromes were reported to differ by the presence of cerebrospinal fluid anomalies (CSF leucocytosis and elevated IFN-alpha levels) in AGS and hepatic dysfunction, congenital microcephaly and thrombocytopaenia in congenital intrauterine infection-like syndrome. However, as the clinical manifestations of both syndromes show significant variability, it has been suggested that AGS and congenital intrauterine infection-like syndrome represent different presentations of the same disease. The differential diagnosis should also include other syndromes characterised by microcephaly and intracranial calcification such as Cockayne syndrome, COFS syndrome (which is usely considered as the neonatal form of Cockayne syndrome) and Hoyeraal-Hreidarsson syndrome (the neonatal presentation of dyskeratosis congenita syndrome; see these terms), some cases of mitochondrial encephalomyopathy, and pseudohypoarathyroidism. Ancient cases may have been reported as ``Fahr disease'', an outdated, causally heterogeneous clinical entity that encompasses several entities with intracranial calcifications.Genetic counselingSeveral familial cases, compatible with an autosomal recessive pattern of inheritance, have been described.Management and treatmentTreatment is symptomatic only.PrognosisThe prognosis is variable but can be severe with several of the reported patients dying within the first year of life.Visit the Orphanet disease page for more resources.

MalaCards based summary : Congenital Intrauterine Infection-Like Syndrome, also known as pseudo-torch syndrome, is related to torch syndrome and pseudo-torch syndrome 1, and has symptoms including muscle spasticity An important gene associated with Congenital Intrauterine Infection-Like Syndrome is DKC1 (Dyskerin Pseudouridine Synthase 1). Affiliated tissues include testes, and related phenotypes are microcephaly and seizures

Related Diseases for Congenital Intrauterine Infection-Like Syndrome

Diseases in the Intrauterine Infections family:

Congenital Intrauterine Infection-Like Syndrome

Diseases related to Congenital Intrauterine Infection-Like Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 14)
# Related Disease Score Top Affiliating Genes
1 torch syndrome 29.0 DKC1 TERC
2 pseudo-torch syndrome 1 11.3
3 intrauterine infections 10.2
4 microcephaly 10.1
5 baraitser brett piesowicz syndrome 10.1
6 aicardi-goutieres syndrome 2 9.9
7 aicardi-goutieres syndrome 3 9.9
8 aicardi-goutieres syndrome 4 9.9
9 aicardi-goutieres syndrome 5 9.9
10 aicardi-goutieres syndrome 6 9.9
11 dyskeratosis congenita autosomal dominant 9.4 DKC1 TERC
12 dyskeratosis congenita 9.3 DKC1 TERC
13 fanconi anemia, complementation group a 9.2 DKC1 TERC
14 aplastic anemia 9.0 DKC1 TERC

Graphical network of the top 20 diseases related to Congenital Intrauterine Infection-Like Syndrome:



Diseases related to Congenital Intrauterine Infection-Like Syndrome

Symptoms & Phenotypes for Congenital Intrauterine Infection-Like Syndrome

Human phenotypes related to Congenital Intrauterine Infection-Like Syndrome:

32 (show all 6)
# Description HPO Frequency HPO Source Accession
1 microcephaly 32 hallmark (90%) HP:0000252
2 seizures 32 hallmark (90%) HP:0001250
3 spasticity 32 hallmark (90%) HP:0001257
4 hyperreflexia 32 hallmark (90%) HP:0001347
5 cerebral cortical atrophy 32 frequent (33%) HP:0002120
6 cerebral calcification 32 hallmark (90%) HP:0002514

UMLS symptoms related to Congenital Intrauterine Infection-Like Syndrome:


muscle spasticity

Drugs & Therapeutics for Congenital Intrauterine Infection-Like Syndrome

Search Clinical Trials , NIH Clinical Center for Congenital Intrauterine Infection-Like Syndrome

Genetic Tests for Congenital Intrauterine Infection-Like Syndrome

Anatomical Context for Congenital Intrauterine Infection-Like Syndrome

MalaCards organs/tissues related to Congenital Intrauterine Infection-Like Syndrome:

41
Testes

Publications for Congenital Intrauterine Infection-Like Syndrome

Articles related to Congenital Intrauterine Infection-Like Syndrome:

# Title Authors Year
1
Extensive intracranial calcification of pseudo-TORCH syndrome with features of Dandy-Walker malformation. ( 28761539 )
2017
2
Human USP18 deficiency underlies type 1 interferonopathy leading to severe pseudo-TORCH syndrome. ( 27325888 )
2016
3
Anaesthetic Management of a Patient with Pseudo-TORCH Syndrome. ( 25207129 )
2013
4
Two brothers with findings resembling congenital intrauterine infection-like syndrome (pseudo-TORCH syndrome). ( 12833411 )
2003
5
Congenital intrauterine infection like syndrome of microcephaly, intracranial calcification and CNS disease. ( 12368535 )
2002
6
Pseudo-TORCH syndrome or Baraitser-Reardon syndrome: diagnostic criteria. ( 11226724 )
2001
7
The autosomal recessive congenital intrauterine infection-like syndrome of microcephaly, intracranial calcification, and CNS disease: report of another Bedouin family. ( 9571284 )
1998
8
Differences between the Hoyeraal-Hreidarsson syndrome and an autosomal recessive congenital intrauterine infection-like syndrome. ( 8533857 )
1995
9
Autosomal recessive congenital intrauterine infection-like syndrome of microcephaly, intracranial calcification, and CNS disease. ( 7977464 )
1994

Variations for Congenital Intrauterine Infection-Like Syndrome

Expression for Congenital Intrauterine Infection-Like Syndrome

Search GEO for disease gene expression data for Congenital Intrauterine Infection-Like Syndrome.

Pathways for Congenital Intrauterine Infection-Like Syndrome

GO Terms for Congenital Intrauterine Infection-Like Syndrome

Cellular components related to Congenital Intrauterine Infection-Like Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 Cajal body GO:0015030 9.16 DKC1 TERC
2 telomerase holoenzyme complex GO:0005697 8.96 DKC1 TERC
3 box H/ACA telomerase RNP complex GO:0090661 8.62 DKC1 TERC

Biological processes related to Congenital Intrauterine Infection-Like Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 telomere maintenance via telomerase GO:0007004 8.62 DKC1 TERC

Molecular functions related to Congenital Intrauterine Infection-Like Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 telomerase activity GO:0003720 8.62 DKC1 TERC

Sources for Congenital Intrauterine Infection-Like Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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