PTORCH3
MCID: PSD121
MIFTS: 17

Pseudo-Torch Syndrome 3 (PTORCH3)

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

Aliases & Classifications for Pseudo-Torch Syndrome 3

MalaCards integrated aliases for Pseudo-Torch Syndrome 3:

Name: Pseudo-Torch Syndrome 3 56 6
Ptorch3 56

Characteristics:

OMIM:

56
Miscellaneous:
death in infancy
onset in the neonatal period
variable features
multisystem disorder
episodic exacerbations, with or without concurrent infection
three patients from 2 unrelated consanguineous families have been reported (last curated may 2020)

Inheritance:
autosomal recessive


Classifications:



External Ids:

OMIM 56 618886
OMIM Phenotypic Series 56 PS251290

Summaries for Pseudo-Torch Syndrome 3

OMIM : 56 Pseudo-TORCH syndrome-3 (PTORCH3) is an autosomal recessive disorder of immune dysregulation and neuroinflammation apparent from early infancy. Affected individuals have developmental delay with acute episodes of fever and multisystemic organ involvement, including coagulopathy, elevated liver enzymes, and proteinuria, often associated with thrombotic microangiopathy. Brain imaging shows progressive intracranial calcifications, white matter abnormalities, and sometimes cerebral or cerebellar atrophy. Laboratory studies show abnormal elevation of interferon (IFN)-stimulated gene (ISG) transcripts consistent with a type I interferonopathy. The phenotype resembles the sequelae of intrauterine infection, but there is usually no evidence of an infectious agent. The disorder results from defects in negative regulation of the interferon immunologic pathway. Death in early childhood is common (summary by Duncan et al., 2019 and Gruber et al., 2020). For a discussion of genetic heterogeneity of PTORCH, see PTORCH1 (251290). (618886)

MalaCards based summary : Pseudo-Torch Syndrome 3, is also known as ptorch3. An important gene associated with Pseudo-Torch Syndrome 3 is STAT2 (Signal Transducer And Activator Of Transcription 2). Affiliated tissues include liver, brain and thyroid.

Related Diseases for Pseudo-Torch Syndrome 3

Diseases in the Torch Syndrome family:

Pseudo-Torch Syndrome 1 Pseudo-Torch Syndrome 2
Pseudo-Torch Syndrome 3

Symptoms & Phenotypes for Pseudo-Torch Syndrome 3

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
global developmental delay
seizures
developmental regression
intracranial hemorrhage
cerebellar atrophy
more
Abdomen Liver:
hepatomegaly
liver dysfunction, acute

Metabolic Features:
fever

Respiratory:
respiratory insufficiency
apneic episodes, acute

Growth Other:
poor overall growth

Genitourinary Kidneys:
renal insufficiency, acute

Immunology:
multisystemic inflammatory disorder
type i interferonopathy
inappropriate activation of interferon type i pathway
features of hemophagocytic lymphohistiocytosis
elevation of ifn-stimulated gene (isg) transcripts
more
Abdomen Spleen:
splenomegaly

Laboratory Abnormalities:
proteinuria
elevated liver enzymes
increased ferritin
increased ldh

Hematology:
anemia
thrombocytopenia
thrombotic microangiopathy
d-dimers

Abdomen Gastrointestinal:
poor feeding

Prenatal Manifestations Delivery:
preterm delivery

Endocrine Features:
thyroid dysfunction

Clinical features from OMIM:

618886

Drugs & Therapeutics for Pseudo-Torch Syndrome 3

Search Clinical Trials , NIH Clinical Center for Pseudo-Torch Syndrome 3

Genetic Tests for Pseudo-Torch Syndrome 3

Anatomical Context for Pseudo-Torch Syndrome 3

MalaCards organs/tissues related to Pseudo-Torch Syndrome 3:

40
Liver, Brain, Thyroid

Publications for Pseudo-Torch Syndrome 3

Articles related to Pseudo-Torch Syndrome 3:

# Title Authors PMID Year
1
Homozygous STAT2 gain-of-function mutation by loss of USP18 activity in a patient with type I interferonopathy. 56 6
32092142 2020
2
Severe type I interferonopathy and unrestrained interferon signaling due to a homozygous germline mutation in STAT2. 56
31836668 2019

Variations for Pseudo-Torch Syndrome 3

ClinVar genetic disease variations for Pseudo-Torch Syndrome 3:

6 ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 STAT2 NM_005419.4(STAT2):c.443G>A (p.Arg148Gln)SNV Pathogenic 907069 12:56749255-56749255 12:56355471-56355471

Expression for Pseudo-Torch Syndrome 3

Search GEO for disease gene expression data for Pseudo-Torch Syndrome 3.

Pathways for Pseudo-Torch Syndrome 3

GO Terms for Pseudo-Torch Syndrome 3

Sources for Pseudo-Torch Syndrome 3

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
Content
Loading form....