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.

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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

SOURCES: OMIM ORPHANET

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


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

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

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

DDX58 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the DDX58 gene.

More info about this panel

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

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

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


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