USP18 gene related symptoms and diseases
All the information presented here about the USP18 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,NCBIGENE,ORPHANET,OMIM, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to USP18 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Seizures | Very Common - Between 80% and 100% cases |
| Lactic acidosis | Very Common - Between 80% and 100% cases |
| Petechiae | Very Common - Between 80% and 100% cases |
| Cerebral hemorrhage | Very Common - Between 80% and 100% cases |
| Intracranial hemorrhage | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with USP18 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Aspiration
- Bradycardia
- Decreased liver function
- Pachygyria
- Heterotopia
- Cerebral calcification
- Ascites
- Polymicrogyria
And 14 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to USP18 gene
Here you will find a list of rare diseases related to the USP18. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
USP18 DEFICIENCY
Description
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 (OMIM ).
Most common symptoms of USP18 DEFICIENCY
- Seizures
- Generalized hypotonia
- Microcephaly
- Hepatomegaly
- Ventriculomegaly
More info about USP18 DEFICIENCY
Search interest in USP18
Potential gene panels for USP18 gene
Microcephaly Deletion/Duplication Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Microcephaly Deletion/Duplication Panel that also includes the following genes: STIL SLC1A4 SLC2A1 SLC9A6 SOX11 PLK4 CDKL5 TCF4 UBE3A USP18
More info about this panel United States.
USP18 Panel
Germany.
By Institute for Human Genetics University Clinic Freiburg
This panel specifically test the USP18 gene.
More info about this panel Germany.
USP18 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the USP18 gene.
More info about this panel United States.
Primary Immunodeficiency Panel Panel
Finland.
By Blueprint Genetics Primary Immunodeficiency Panel that also includes the following genes: RMRP RORC CFB BLM SH2D1A SLC7A7 SMARCAL1 SMARCD2 SRP72 BTK
More info about this panel Finland.
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