DDX58 gene related symptoms and diseases
All the information presented here about the DDX58 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,HGNC,OMIM,NCBIGENE, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to DDX58 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Glaucoma | Very Common - Between 80% and 100% cases |
| Abnormality of the dentition | Very Common - Between 80% and 100% cases |
| Generalized hypotonia | Very Common - Between 80% and 100% cases |
| Muscle weakness | Very Common - Between 80% and 100% cases |
| Abnormal facial shape | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with DDX58 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Short stature
- Aortic valve stenosis
Not very common - Between 30% and 50% cases
- Dentinogenesis imperfecta limited to primary teeth
- Unerupted tooth
- Premature loss of permanent teeth
- Mitral valve calcification
- Hip subluxation
- Aortic valve calcification
And 61 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to DDX58 gene
Here you will find a list of rare diseases related to the DDX58. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
SINGLETON-MERTEN DYSPLASIA
Alternate names
SINGLETON-MERTEN DYSPLASIA Is also known as singleton-merten syndrome
Description
Singleton-Merten dysplasia is characterized by dental dysplasia, progressive calcification of the thoracic aorta with stenosis, osteoporosis and expansion of the marrow cavities in hand bones. Additional features included generalized muscle weakness and atrophy, and chronic psoriasiform skin eruptions. It has been reported in four unrelated patients (male and female) and in a family with multiple affected members (male).
Most common symptoms of SINGLETON-MERTEN DYSPLASIA
- Global developmental delay
- Short stature
- Generalized hypotonia
- Growth delay
- Muscle weakness
More info about SINGLETON-MERTEN DYSPLASIA
SINGLETON-MERTEN SYNDROME 2; SGMRT2
Description
Singleton-Merten syndrome-2 is characterized by variable expression of glaucoma, aortic calcification, and skeletal abnormalities, without dental anomalies (summary by Jang et al., 2015).For a general phenotypic description and discussion of genetic heterogeneity of Singleton-Merten syndrome, see SGMRT1 (OMIM ).
Most common symptoms of SINGLETON-MERTEN SYNDROME 2; SGMRT2
- Short stature
- Generalized hypotonia
- Muscle weakness
- Abnormal facial shape
- Flexion contracture
More info about SINGLETON-MERTEN SYNDROME 2; SGMRT2
SOURCES: OMIM
Search interest in DDX58
Potential gene panels for DDX58 gene
DDX58 Panel
Germany.
By Institute for Human Genetics University Clinic Freiburg
This panel specifically test the DDX58 gene.
More info about this panel Germany.
Singleton-Merten syndrome 2 (sequence analysis of DDX58 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the DDX58 gene.
More info about this panel Portugal.
Singleton-Merten syndrome 2 (sequence analysis of DDX58 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the DDX58 gene.
More info about this panel Portugal.
DDX58 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the DDX58 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.
Autoinflammatory Syndrome Panel Panel
Finland.
By Blueprint Genetics Autoinflammatory Syndrome Panel that also includes the following genes: TNFAIP3 TNFRSF1A TREX1 ACP5 NLRP1 LPIN2 IL36RN SAMHD1 NLRP3 NLRC4
More info about this panel Finland.
Immune Report Card Panel
United States.
By OmniSeq, Inc. Immune Report Card that also includes the following genes: CXCL10 STAT1 TBX21 TGFB1 TNF TNFRSF14 TNFRSF18 CD40 CD27 TNFRSF9
More info about this panel United States.
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