MCID: CNG418
MIFTS: 27

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 54
Pseudo-Torch Syndrome 54 74
Microcephaly-Intracranial Calcification-Intellectual Disability Syndrome 54
Band-Like Calcification with Simplified Gyration and Polymicrogyria 54
Microcephaly - Intracranial Calcification - Intellectual Disability 54
Bilateral Band-Like Calcification with Polymicrogyria 54
Baraitser Brett Piesowicz Syndrome 74
Baraitser-Brett-Piesowicz Syndrome 54
Baraitser-Reardon Syndrome 54
Blc-Pmg 54
Blcpmg 54

Classifications:



Summaries for Congenital Intrauterine Infection-Like Syndrome

NIH Rare Diseases : 54 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 2, 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 seizures and spasticity

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 19)
# Related Disease Score Top Affiliating Genes
1 torch syndrome 29.7 DKC1 TERC
2 pseudo-torch syndrome 2 12.8
3 aicardi-goutieres syndrome 1 12.1
4 pseudo-torch syndrome 1 11.4
5 polymicrogyria 10.7
6 microcephaly 10.2
7 baraitser brett piesowicz syndrome 10.2
8 dandy-walker complex 10.1
9 aicardi-goutieres syndrome 2 10.0
10 aicardi-goutieres syndrome 3 10.0
11 aicardi-goutieres syndrome 4 10.0
12 aicardi-goutieres syndrome 5 10.0
13 aicardi-goutieres syndrome 6 10.0
14 dyskeratosis congenita 9.8 DKC1 TERC
15 dyskeratosis congenita, x-linked 9.7 DKC1 TERC
16 dyskeratosis congenita, autosomal dominant 1 9.7 DKC1 TERC
17 revesz syndrome 9.7 DKC1 TERC
18 fanconi anemia, complementation group a 9.6 DKC1 TERC
19 aplastic anemia 9.5 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:

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

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:

42
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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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