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.
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
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
Search interest in DNAJB13
Potential gene panels for DNAJB13 gene
Comprehensive Pulmonary Panel Panel
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 panelPrimary Ciliary Dyskinesia and Cystic Fibrosis Panel Panel
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 panelPrimary Ciliary Dyskinesia (PCD)/Immotile Cilia Syndrome and Cystic Fibrosis Sequencing Panel with CNV Detection Panel
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 panelPrimary Ciliary Dyskinesia (PCD)/Immotile Cilia Syndrome Sequencing Panel with CNV Detection Panel
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 panelPrimary Ciliary Dyskinesia (PCD) via DNAJB13 Gene Sequencing with CNV Detection Panel
By PreventionGenetics PreventionGenetics
This panel specifically test the DNAJB13 gene.
More info about this panelDNAJB13 Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the DNAJB13 gene.
More info about this panelCILIARY DYSKINESIA, PRIMARY NGS PANEL Panel
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
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