DNAJB13 gene related symptoms and diseases

All the information presented here about the DNAJB13 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,NCBIGENE,HGNC,OMIM, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to DNAJB13 gene

Symptoms // Phenotype % Cases
Infertility Very Common - Between 80% and 100% cases
Dyskinesia Very Common - Between 80% and 100% cases
Recurrent respiratory infections Very Common - Between 80% and 100% cases
Bronchiectasis Very Common - Between 80% and 100% cases
Respiratory tract infection Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with DNAJB13 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Ciliary dyskinesia
  • Not very common - Between 30% and 50% cases

  • Recurrent sinusitis
  • Chronic sinusitis
  • Polysplenia
  • Asplenia
  • Duodenal atresia
  • Communicating hydrocephalus
  • Nasal obstruction

And 31 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to DNAJB13 gene

Here you will find a list of rare diseases related to the DNAJB13. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


PRIMARY CILIARY DYSKINESIA


Alternate names

PRIMARY CILIARY DYSKINESIA Is also known as ics, polynesian bronchiectasis, ciliary dyskinesia, primary, 1, with or without situs inversus, pcd, immotile cilia syndrome

Description

Primary ciliary dyskinesia (PCD) is a rare, genetically heterogeneous, primarily respiratory disorder characterized by chronic upper and lower respiratory tract disease. Approximately half of PCD patients have an organ laterality defect (situs inversus totalis or situs ambiguus/heterotaxy; see these terms).

Most common symptoms of PRIMARY CILIARY DYSKINESIA

  • Hearing impairment
  • Ventriculomegaly
  • Respiratory distress
  • Hydrocephalus
  • Headache


More info about PRIMARY CILIARY DYSKINESIA

SOURCES: ORPHANET OMIM

CILIARY DYSKINESIA, PRIMARY, 34; CILD34


Alternate names

CILIARY DYSKINESIA, PRIMARY, 34; CILD34 Is also known as ciliary dyskinesia, primary, 34, without situs inversus

Description

Primary ciliary dyskinesia-34 (CILD34) is an autosomal recessive disorder characterized by childhood onset of recurrent sinopulmonary infections due to impaired ciliary function. Affected males are infertile due to impaired sperm function and viability. Laterality defects have not been observed in this type of CILD (summary by El Khouri et al., 2016).For a general phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see CILD1 (OMIM ).

Most common symptoms of CILIARY DYSKINESIA, PRIMARY, 34; CILD34

  • Recurrent respiratory infections
  • Respiratory tract infection
  • Infertility
  • Dyskinesia
  • Bronchiectasis


More info about CILIARY DYSKINESIA, PRIMARY, 34; CILD34

SOURCES: OMIM


Potential gene panels for DNAJB13 gene

Comprehensive Pulmonary Panel Panel

United States.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center Comprehensive Pulmonary Panel that also includes the following genes: RPGR SCNN1A SCNN1B SCNN1G BMPR1B BMPR2 SFTPA1 SFTPA2 SFTPB SFTPC

More info about this panel

Primary Ciliary Dyskinesia and Cystic Fibrosis Panel Panel

United States.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center Primary Ciliary Dyskinesia and Cystic Fibrosis Panel that also includes the following genes: RPGR SCNN1A SCNN1B SCNN1G SPAG1 RSPH1 CFAP298 NME8 LRRC6 INVS

More info about this panel

Primary Ciliary Dyskinesia (PCD)/Immotile Cilia Syndrome and Cystic Fibrosis Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Primary Ciliary Dyskinesia (PCD)/Immotile Cilia Syndrome and Cystic Fibrosis Sequencing Panel with CNV Detection that also includes the following genes: RPGR SPAG1 RSPH1 CFAP298 NME8 LRRC6 INVS CCNO DNAI2 CFTR

More info about this panel

Primary Ciliary Dyskinesia (PCD)/Immotile Cilia Syndrome Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Primary Ciliary Dyskinesia (PCD)/Immotile Cilia Syndrome Sequencing Panel with CNV Detection that also includes the following genes: RPGR SPAG1 RSPH1 CFAP298 NME8 LRRC6 INVS CCNO DNAI2 ZMYND10

More info about this panel

Primary Ciliary Dyskinesia (PCD) via DNAJB13 Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the DNAJB13 gene.

More info about this panel

DNAJB13 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the DNAJB13 gene.

More info about this panel

CILIARY DYSKINESIA, PRIMARY NGS PANEL Panel

Spain.

By Laboratorio de Genetica Clinica SL CILIARY DYSKINESIA, PRIMARY NGS PANEL that also includes the following genes: SPAG1 RSPH1 CFAP298 NME8 LRRC6 CCNO DNAI2 HYDIN ZMYND10 DNAAF2

More info about this panel


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