PTORCH2
MCID: PSD107
MIFTS: 26

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 58 76 30 6
Ptorch2 58 76
Usp18 Deficiency 60

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

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


HPO:

33
pseudo-torch syndrome 2:
Onset and clinical course congenital onset
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Pseudo-Torch Syndrome 2

OMIM : 58 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 brain and bone, and related phenotypes are seizures and elevated hepatic transaminase

UniProtKB/Swiss-Prot : 76 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 10.0
2 aicardi-goutieres syndrome 3 10.0
3 aicardi-goutieres syndrome 4 10.0
4 aicardi-goutieres syndrome 5 10.0
5 aicardi-goutieres syndrome 6 10.0
6 congenital intrauterine infection-like syndrome 10.0
7 torch syndrome 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:

33 (show all 20)
# Description HPO Frequency HPO Source Accession
1 seizures 33 occasional (7.5%) HP:0001250
2 elevated hepatic transaminase 33 occasional (7.5%) HP:0002910
3 respiratory insufficiency 33 HP:0002093
4 cerebral calcification 33 HP:0002514
5 hepatomegaly 33 HP:0002240
6 microcephaly 33 HP:0000252
7 decreased liver function 33 HP:0001410
8 ascites 33 HP:0001541
9 patent ductus arteriosus 33 HP:0001643
10 thrombocytopenia 33 HP:0001873
11 ventriculomegaly 33 HP:0002119
12 lactic acidosis 33 HP:0003128
13 cerebellar hypoplasia 33 HP:0001321
14 petechiae 33 HP:0000967
15 lethargy 33 HP:0001254
16 cerebral hemorrhage 33 HP:0001342
17 polymicrogyria 33 HP:0002126
18 generalized hypotonia 33 HP:0001290
19 bradycardia 33 HP:0001662
20 gray matter heterotopia 33 HP:0002282

Symptoms via clinical synopsis from OMIM:

58
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

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 30 USP18

Anatomical Context for Pseudo-Torch Syndrome 2

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

42
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
Two brothers with findings resembling congenital intrauterine infection-like syndrome (pseudo-TORCH syndrome). ( 12833411 )
2003

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 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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