MCID: CNG418
MIFTS: 24

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 52
Pseudo-Torch Syndrome 52 71
Microcephaly-Intracranial Calcification-Intellectual Disability Syndrome 52
Band-Like Calcification with Simplified Gyration and Polymicrogyria 52
Microcephaly - Intracranial Calcification - Intellectual Disability 52
Bilateral Band-Like Calcification with Polymicrogyria 52
Baraitser-Brett-Piesowicz Syndrome 52
Baraitser Brett Piesowicz Syndrome 71
Baraitser-Reardon Syndrome 52
Blc-Pmg 52
Blcpmg 52

Classifications:



External Ids:

UMLS 71 C2931662 C3489725

Summaries for Congenital Intrauterine Infection-Like Syndrome

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1229 Definition Congenital 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. Epidemiology More than 30 cases have been described in the literature so far. Clinical description The 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. Etiology The cause remains unknown. Diagnostic methods Diagnosis relies on the clinical picture and requires exclusion of intrauterine infections. Differential diagnosis Congenital 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 counseling Several familial cases, compatible with an autosomal recessive pattern of inheritance, have been described. Management and treatment Treatment is symptomatic only. Prognosis The 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 dyskeratosis congenita, x-linked and hoyeraal hreidarsson syndrome, 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 brain, and related phenotypes are seizures and spasticity

Related Diseases for 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 43)
# Related Disease Score Top Affiliating Genes
1 dyskeratosis congenita, x-linked 29.8 TERC DKC1
2 hoyeraal hreidarsson syndrome 29.7 TERC DKC1
3 torch syndrome 29.5 TERC DKC1
4 aicardi-goutieres syndrome 1 12.2
5 pseudo-torch syndrome 1 11.9
6 aicardi-goutieres syndrome 2 11.7
7 aicardi-goutieres syndrome 3 11.7
8 aicardi-goutieres syndrome 4 11.7
9 aicardi-goutieres syndrome 5 11.7
10 aicardi-goutieres syndrome 6 11.7
11 anus, imperforate 10.4
12 cortical dysplasia, complex, with other brain malformations 7 10.4
13 autosomal recessive disease 10.4
14 basal ganglia calcification 10.4
15 microcephaly 10.2
16 aicardi-goutieres syndrome 10.1
17 dandy-walker syndrome 10.1
18 polymicrogyria with or without vascular-type ehlers-danlos syndrome 10.1
19 hydrocephalus 10.1
20 neonatal jaundice 10.1
21 bilirubin metabolic disorder 10.1
22 rubella 10.1
23 toxoplasmosis 10.1
24 polymicrogyria 10.1
25 seizure disorder 10.1
26 type 1 interferonopathy 10.1
27 basal ganglia calcification, idiopathic, childhood-onset 10.0
28 corpus callosum, partial agenesis of, x-linked 10.0
29 pseudo-torch syndrome 2 10.0
30 thrombocytopenia 10.0
31 cerebellar hypoplasia 10.0
32 hypertonia 10.0
33 spasticity 10.0
34 retinal telangiectasia 9.7 TERC DKC1
35 revesz syndrome 9.7 TERC DKC1
36 dyskeratosis congenita 9.6 TERC DKC1
37 dyskeratosis congenita, autosomal dominant 1 9.6 TERC DKC1
38 coats disease 9.6 TERC DKC1
39 shwachman-diamond syndrome 1 9.6 TERC DKC1
40 pulmonary fibrosis, idiopathic 9.5 TERC DKC1
41 diamond-blackfan anemia 9.5 TERC DKC1
42 aplastic anemia 9.4 TERC DKC1
43 fanconi anemia, complementation group a 9.2 TERC DKC1

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:

31 (show all 6)
# Description HPO Frequency HPO Source Accession
1 seizures 31 hallmark (90%) HP:0001250
2 spasticity 31 hallmark (90%) HP:0001257
3 hyperreflexia 31 hallmark (90%) HP:0001347
4 cerebral calcification 31 hallmark (90%) HP:0002514
5 microcephaly 31 hallmark (90%) HP:0000252
6 cerebral cortical atrophy 31 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:

40
Testes, Brain

Publications for Congenital Intrauterine Infection-Like Syndrome

Articles related to Congenital Intrauterine Infection-Like Syndrome:

(show all 20)
# Title Authors PMID Year
1
Microglial Interferon Signaling and White Matter. 61
28540600 2017
2
Extensive intracranial calcification of pseudo-TORCH syndrome with features of Dandy-Walker malformation. 61
28761539 2017
3
Human USP18 deficiency underlies type 1 interferonopathy leading to severe pseudo-TORCH syndrome. 61
27325888 2016
4
Renal dysfunction in sibs with band like calcification with simplified gyration and polymicrogyria: Report of a new mutation and review of literature. 61
26689621 2016
5
Anaesthetic Management of a Patient with Pseudo-TORCH Syndrome. 61
25207129 2013
6
Intracranial calcifications, microcephaly, and seizure. If not congenital infection, what could it be? 61
22772931 2012
7
Recurrent pseudo-TORCH appearances of the brain presenting as "Dandy-Walker" malformation. 61
21762029 2012
8
[Genetic syndromes that mimic congenital infections: report of 2 cases]. 61
21963371 2011
9
A homozygous mutation in the tight-junction protein JAM3 causes hemorrhagic destruction of the brain, subependymal calcification, and congenital cataracts. 61
21109224 2010
10
Recessive mutations in the gene encoding the tight junction protein occludin cause band-like calcification with simplified gyration and polymicrogyria. 61
20727516 2010
11
Microcephaly, malformation of brain development and intracranial calcification in sibs: pseudo-TORCH or a new syndrome. 61
18925673 2008
12
Chorioretinal dysplasia, hydranencephaly, and intracranial calcifications: pseudo-TORCH or a new syndrome? 61
18084237 2008
13
Genetic syndromes mimic congenital infections. 61
15870678 2005
14
Two brothers with findings resembling congenital intrauterine infection-like syndrome (pseudo-TORCH syndrome). 61
12833411 2003
15
Cree encephalitis is allelic with Aicardi-Goutiéres syndrome: implications for the pathogenesis of disorders of interferon alpha metabolism. 61
12624136 2003
16
Congenital intrauterine infection like syndrome of microcephaly, intracranial calcification and CNS disease. 61
12368535 2002
17
Pseudo-TORCH syndrome or Baraitser-Reardon syndrome: diagnostic criteria. 61
11226724 2001
18
The autosomal recessive congenital intrauterine infection-like syndrome of microcephaly, intracranial calcification, and CNS disease: report of another Bedouin family. 61
9571284 1998
19
Differences between the Hoyeraal-Hreidarsson syndrome and an autosomal recessive congenital intrauterine infection-like syndrome. 61
8533857 1995
20
Autosomal recessive congenital intrauterine infection-like syndrome of microcephaly, intracranial calcification, and CNS disease. 61
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 TERC DKC1
2 telomerase holoenzyme complex GO:0005697 8.96 TERC DKC1
3 box H/ACA telomerase RNP complex GO:0090661 8.62 TERC DKC1

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 TERC DKC1

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 TERC DKC1

Sources for Congenital Intrauterine Infection-Like Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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