MCID: PSD107
MIFTS: 27

Pseudo-Torch Syndrome 2

Categories: Genetic diseases, Neuronal diseases, Bone diseases, Rare diseases

Aliases & Classifications for Pseudo-Torch Syndrome 2

MalaCards integrated aliases for Pseudo-Torch Syndrome 2:

Name: Pseudo-Torch Syndrome 2 57 75 29 6
Ptorch2 57 75
Usp18 Deficiency 59

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset in utero
death in early infancy
two unrelated families have been reported (last curated march 2017)


HPO:

32
pseudo-torch syndrome 2:
Onset and clinical course congenital onset
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Pseudo-Torch Syndrome 2

OMIM : 57 Pseudo-TORCH syndrome-2 is an autosomal recessive multisystem disorder characterized by antenatal onset of intracranial hemorrhage, calcification, brain malformations, liver dysfunction, and often thrombocytopenia. Affected individuals tend to have respiratory insufficiency and seizures, and die in infancy. The phenotype resembles the sequelae of intrauterine infection, but there is no evidence of an infectious agent. The disorder results from inappropriate activation of the interferon (IFN) immunologic pathway (summary by Meuwissen et al., 2016). For a discussion of genetic heterogeneity of PTORCH, see PTORCH1 (251290). (617397)

MalaCards based summary : Pseudo-Torch Syndrome 2, also known as ptorch2, is related to aicardi-goutieres syndrome 2 and aicardi-goutieres syndrome 3. An important gene associated with Pseudo-Torch Syndrome 2 is USP18 (Ubiquitin Specific Peptidase 18). Affiliated tissues include liver, brain and bone, and related phenotypes are microcephaly and petechiae

UniProtKB/Swiss-Prot : 75 Pseudo-TORCH syndrome 2: An autosomal recessive multisystem disorder characterized by antenatal onset of intracranial hemorrhage, calcification, brain malformations, liver dysfunction, and often thrombocytopenia. Affected individuals tend to have respiratory insufficiency and seizures, and die in infancy. The phenotype resembles the sequelae of intrauterine infection, but there is no evidence of an infectious agent.

Related Diseases for Pseudo-Torch Syndrome 2

Diseases in the Torch Syndrome family:

Pseudo-Torch Syndrome 1 Pseudo-Torch Syndrome 2

Diseases related to Pseudo-Torch Syndrome 2 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 aicardi-goutieres syndrome 2 9.8
2 aicardi-goutieres syndrome 3 9.8
3 aicardi-goutieres syndrome 4 9.8
4 aicardi-goutieres syndrome 5 9.8
5 aicardi-goutieres syndrome 6 9.8
6 congenital intrauterine infection-like syndrome 9.8
7 torch syndrome 9.8

Graphical network of the top 20 diseases related to Pseudo-Torch Syndrome 2:



Diseases related to Pseudo-Torch Syndrome 2

Symptoms & Phenotypes for Pseudo-Torch Syndrome 2

Symptoms via clinical synopsis from OMIM:

57
Respiratory:
respiratory insufficiency

Abdomen External Features:
ascites

Cardiovascular Heart:
patent ductus arteriosus
bradycardia

Neurologic Central Nervous System:
cerebellar hypoplasia
lethargy
polymicrogyria
heterotopia
enlarged ventricles
more
Head And Neck Head:
small head circumference

Skeletal:
extracranial calcifications (in some patients)

Abdomen Liver:
hepatomegaly
liver dysfunction

Muscle Soft Tissue:
ascites
hypotonia

Hematology:
thrombocytopenia

Skin Nails Hair Skin:
petechiae

Laboratory Abnormalities:
abnormal liver enzymes (in some patients)
lactic acidosis (n some patients)

Immunology:
induction of the immune system
increased interferon-1 stimulated gene transcription
abnormal activation of the immune system without evidence of infection


Clinical features from OMIM:

617397

Human phenotypes related to Pseudo-Torch Syndrome 2:

32 (show all 20)
# Description HPO Frequency HPO Source Accession
1 microcephaly 32 HP:0000252
2 petechiae 32 HP:0000967
3 seizures 32 occasional (7.5%) HP:0001250
4 lethargy 32 HP:0001254
5 generalized hypotonia 32 HP:0001290
6 cerebellar hypoplasia 32 HP:0001321
7 cerebral hemorrhage 32 HP:0001342
8 decreased liver function 32 HP:0001410
9 ascites 32 HP:0001541
10 patent ductus arteriosus 32 HP:0001643
11 bradycardia 32 HP:0001662
12 thrombocytopenia 32 HP:0001873
13 respiratory insufficiency 32 HP:0002093
14 ventriculomegaly 32 HP:0002119
15 polymicrogyria 32 HP:0002126
16 hepatomegaly 32 HP:0002240
17 heterotopia 32 HP:0002282
18 cerebral calcification 32 HP:0002514
19 elevated hepatic transaminases 32 occasional (7.5%) HP:0002910
20 lactic acidosis 32 HP:0003128

Drugs & Therapeutics for Pseudo-Torch Syndrome 2

Search Clinical Trials , NIH Clinical Center for Pseudo-Torch Syndrome 2

Genetic Tests for Pseudo-Torch Syndrome 2

Genetic tests related to Pseudo-Torch Syndrome 2:

# Genetic test Affiliating Genes
1 Pseudo-Torch Syndrome 2 29 USP18

Anatomical Context for Pseudo-Torch Syndrome 2

MalaCards organs/tissues related to Pseudo-Torch Syndrome 2:

41
Liver, Brain, Bone

Publications for Pseudo-Torch Syndrome 2

Articles related to Pseudo-Torch Syndrome 2:

# Title Authors Year
1
Human USP18 deficiency underlies type 1 interferonopathy leading to severe pseudo-TORCH syndrome. ( 27325888 )
2016
2
Usp18 deficient mammary epithelial cells create an antitumour environment driven by hypersensitivity to IFN-I> and elevated secretion of Cxcl10. ( 23681607 )
2013

Variations for Pseudo-Torch Syndrome 2

ClinVar genetic disease variations for Pseudo-Torch Syndrome 2:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 USP18 NM_017414.3(USP18): c.652C> T (p.Gln218Ter) single nucleotide variant Pathogenic rs1085307118 GRCh38 Chromosome 22, 18169868: 18169868
2 USP18 NM_017414.3(USP18): c.652C> T (p.Gln218Ter) single nucleotide variant Pathogenic rs1085307118 GRCh37 Chromosome 22, 18652635: 18652635
3 USP18 USP18, 3-PRIME DEL deletion Pathogenic

Expression for Pseudo-Torch Syndrome 2

Search GEO for disease gene expression data for Pseudo-Torch Syndrome 2.

Pathways for Pseudo-Torch Syndrome 2

GO Terms for Pseudo-Torch Syndrome 2

Sources for Pseudo-Torch Syndrome 2

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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