PTORCH2
MCID: PSD107
MIFTS: 28

Pseudo-Torch Syndrome 2 (PTORCH2)

Categories: Blood diseases, Bone diseases, Genetic diseases, Immune diseases, Liver diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Pseudo-Torch Syndrome 2

MalaCards integrated aliases for Pseudo-Torch Syndrome 2:

Name: Pseudo-Torch Syndrome 2 56 73 29 6
Ptorch2 56 73
Usp18 Deficiency 58

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

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


HPO:

31
pseudo-torch syndrome 2:
Inheritance autosomal recessive inheritance
Onset and clinical course congenital onset


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare systemic and rhumatological diseases


Summaries for Pseudo-Torch Syndrome 2

OMIM : 56 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 pseudo-torch syndrome 1 and polymicrogyria with or without vascular-type ehlers-danlos syndrome. 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 elevated hepatic transaminase and seizure

UniProtKB/Swiss-Prot : 73 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
Pseudo-Torch Syndrome 3

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

(show all 11)
# Related Disease Score Top Affiliating Genes
1 pseudo-torch syndrome 1 10.0
2 polymicrogyria with or without vascular-type ehlers-danlos syndrome 10.0
3 microcephaly 10.0
4 hydrocephalus 10.0
5 respiratory failure 10.0
6 allergic hypersensitivity disease 10.0
7 cellulitis 10.0
8 polymicrogyria 10.0
9 congenital intrauterine infection-like syndrome 10.0
10 torch syndrome 10.0
11 type 1 interferonopathy 10.0

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

Human phenotypes related to Pseudo-Torch Syndrome 2:

31 (show all 20)
# Description HPO Frequency HPO Source Accession
1 elevated hepatic transaminase 31 occasional (7.5%) HP:0002910
2 seizure 31 occasional (7.5%) HP:0001250
3 hepatomegaly 31 HP:0002240
4 microcephaly 31 HP:0000252
5 ascites 31 HP:0001541
6 respiratory insufficiency 31 HP:0002093
7 thrombocytopenia 31 HP:0001873
8 patent ductus arteriosus 31 HP:0001643
9 ventriculomegaly 31 HP:0002119
10 petechiae 31 HP:0000967
11 cerebral calcification 31 HP:0002514
12 polymicrogyria 31 HP:0002126
13 cerebellar hypoplasia 31 HP:0001321
14 lethargy 31 HP:0001254
15 cerebral hemorrhage 31 HP:0001342
16 lactic acidosis 31 HP:0003128
17 gray matter heterotopia 31 HP:0002282
18 generalized hypotonia 31 HP:0001290
19 decreased liver function 31 HP:0001410
20 bradycardia 31 HP:0001662

Symptoms via clinical synopsis from OMIM:

56
Abdomen Liver:
hepatomegaly
liver dysfunction

Muscle Soft Tissue:
ascites
hypotonia

Hematology:
thrombocytopenia

Skin Nails Hair Skin:
petechiae

Head And Neck Head:
small head circumference

Skeletal:
extracranial calcifications (in some patients)

Abdomen External Features:
ascites

Respiratory:
respiratory insufficiency

Cardiovascular Heart:
patent ductus arteriosus
bradycardia

Neurologic Central Nervous System:
polymicrogyria
cerebellar hypoplasia
lethargy
enlarged ventricles
seizures (in some patients)
more
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

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:

40
Liver, Brain, Bone

Publications for Pseudo-Torch Syndrome 2

Articles related to Pseudo-Torch Syndrome 2:

# Title Authors PMID Year
1
JAK Inhibitor Therapy in a Child with Inherited USP18 Deficiency. 61 56 6
31940699 2020
2
Human USP18 deficiency underlies type 1 interferonopathy leading to severe pseudo-TORCH syndrome. 61 56 6
27325888 2016
3
Two brothers with findings resembling congenital intrauterine infection-like syndrome (pseudo-TORCH syndrome). 6 56
12833411 2003
4
Homozygous STAT2 gain-of-function mutation by loss of USP18 activity in a patient with type I interferonopathy. 61
32092142 2020
5
Type I interferon pathway in CNS homeostasis and neurological disorders. 61
28519900 2017
6
USP18 recruits USP20 to promote innate antiviral response through deubiquitinating STING/MITA. 61
27801882 2016

Variations for Pseudo-Torch Syndrome 2

ClinVar genetic disease variations for Pseudo-Torch Syndrome 2:

6 ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 USP18 NM_017414.4(USP18):c.652C>T (p.Gln218Ter)SNV Pathogenic 417774 rs1085307118 22:18652635-18652635 22:18169868-18169868
2 USP18 USP18, 3-PRIME DELdeletion Pathogenic 417775
3 USP18 NM_017414.4(USP18):c.1073+1G>ASNV Pathogenic 810842 22:18656610-18656610 22:18173843-18173843

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 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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