Pseudo-Torch Syndrome 2 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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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:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Neuronal diseases Bone diseases Liver diseases Blood diseases

See all MalaCards categories (disease lists)

Orphanet: ⁵⁹

Rare neurological diseases

Rare systemic and rhumatological diseases

External Ids:

OMIM ⁵⁷ 617397

Orphanet ⁵⁹ ORPHA481665

MedGen ⁴² C4479376 CN241835

MeSH ⁴⁴ D002114 D054220

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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 seizures and respiratory insufficiency

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.

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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
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:

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

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Drugs & Therapeutics for Pseudo-Torch Syndrome 2

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

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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

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Anatomical Context for Pseudo-Torch Syndrome 2

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

⁴¹

Liver, Brain, Bone

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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 )	Meuwissen M.E....Mancini G.M.	2016

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Genes for Pseudo-Torch Syndrome 2

Genes related to Pseudo-Torch Syndrome 2 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	USP18	Ubiquitin Specific Peptidase 18	Protein Coding	1377.64	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation (loss of function) ⁵⁹ Genetic Tests ²⁹ GeneCards inferred via : Disorders Variants (show sections)	27325888 12833411

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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

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Expression for Pseudo-Torch Syndrome 2

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

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Pathways for Pseudo-Torch Syndrome 2

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GO Terms for Pseudo-Torch Syndrome 2

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Pseudo-Torch Syndrome 2 (PTORCH2)

Aliases & Classifications for Pseudo-Torch Syndrome 2

MalaCards integrated aliases for Pseudo-Torch Syndrome 2:

Characteristics:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Pseudo-Torch Syndrome 2

Related Diseases for Pseudo-Torch Syndrome 2

Diseases in the Torch Syndrome family:

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

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

Symptoms & Phenotypes for Pseudo-Torch Syndrome 2

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Human phenotypes related to Pseudo-Torch Syndrome 2:

Drugs & Therapeutics for Pseudo-Torch Syndrome 2

Genetic Tests for Pseudo-Torch Syndrome 2

Genetic tests related to Pseudo-Torch Syndrome 2:

Anatomical Context for Pseudo-Torch Syndrome 2

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

Publications for Pseudo-Torch Syndrome 2

Articles related to Pseudo-Torch Syndrome 2:

Genes for Pseudo-Torch Syndrome 2

Genes related to Pseudo-Torch Syndrome 2 (1 elite genes):

Variations for Pseudo-Torch Syndrome 2

ClinVar genetic disease variations for Pseudo-Torch Syndrome 2:

Expression for Pseudo-Torch Syndrome 2

Pathways for Pseudo-Torch Syndrome 2

GO Terms for Pseudo-Torch Syndrome 2

Sources for Pseudo-Torch Syndrome 2