DNAAF4 gene related symptoms and diseases
All the information presented here about the DNAAF4 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,HGNC,OMIM,ORPHANET, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to DNAAF4 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Immotile cilia | Common - Between 50% and 80% cases |
| Bronchiectasis | Common - Between 50% and 80% cases |
| Situs inversus totalis | Common - Between 50% and 80% cases |
| Polysplenia | Common - Between 50% and 80% cases |
| Dyskinesia | Common - Between 50% and 80% cases |
Other less frequent symptoms and clinical features
Patients with DNAAF4 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Infertility
- Neonatal respiratory distress
- Dextrocardia
- Ciliary dyskinesia
- Dyslexia
- Recurrent sinusitis
- Respiratory distress
Not very common - Between 30% and 50% cases
- Nasal obstruction
And 37 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to DNAAF4 gene
Here you will find a list of rare diseases related to the DNAAF4. 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, 25; CILD25
Alternate names
CILIARY DYSKINESIA, PRIMARY, 25; CILD25 Is also known as ciliary dyskinesia, primary, 25, with or without situs inversus
Description
Primary ciliary dyskinesia-25 is an autosomal recessive disorder caused by defective ciliary movement. Affected individuals have recurrent upper and lower airway disease, bronchiectasis, and decreased fertility. About half of patients show laterality defects, including situs inversus totalis. Respiratory cilia from patients show defects in the inner and outer dynein arms (summary by Tarkar et al., 2013).For a phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see {244400}.
Most common symptoms of CILIARY DYSKINESIA, PRIMARY, 25; CILD25
- Microcephaly
- Respiratory distress
- Infertility
- Dyskinesia
- Bronchiectasis
More info about CILIARY DYSKINESIA, PRIMARY, 25; CILD25
SOURCES: OMIM
DYSLEXIA, SUSCEPTIBILITY TO, 1; DYX1
Alternate names
DYSLEXIA, SUSCEPTIBILITY TO, 1; DYX1 Is also known as word-blindness, congenital, reading disability, specific, 1
Description
Dyslexia is a disorder manifested by difficulty learning to read despite conventional instruction, adequate intelligence, and sociocultural opportunity. It is among the most common neurodevelopmental disorders, with a prevalence of 5 to 12%. Although there is evidence for familial clustering and heritability, the disorder is considered a complex multifactorial trait (Schumacher et al., 2007).
Most common symptoms of DYSLEXIA, SUSCEPTIBILITY TO, 1; DYX1
- Hypertension
- Neurological speech impairment
- Dyslexia
More info about DYSLEXIA, SUSCEPTIBILITY TO, 1; DYX1
SOURCES: OMIM
Search interest in DNAAF4
Potential gene panels for DNAAF4 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 United States.
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 United States.
Primary Ciliary Dyskinesia Seq + Del/Dup Panel Panel
United States.
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Primary Ciliary Dyskinesia Seq + Del/Dup Panel that also includes the following genes: RPGR SPAG1 RSPH1 NME8 LRRC6 INVS CCNO DNAI2 CFTR HYDIN
More info about this panel United States.
Primary Ciliary Dyskinesia Seq Analysis Panel
United States.
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Primary Ciliary Dyskinesia Seq Analysis that also includes the following genes: RPGR SPAG1 RSPH1 NME8 LRRC6 INVS CCNO DNAI2 CFTR HYDIN
More info about this panel United States.
Comprehensive Pulmonary-Vascular Seq Analysis Panel
United States.
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Comprehensive Pulmonary-Vascular Seq Analysis that also includes the following genes: RPGR BMPR1B BMPR2 SFTPB SLC7A7 SPAG1 TERC TERT NKX2-1 RSPH1
More info about this panel United States.
Comprehensive Pulmonary-Vascular Del/Dup Panel Panel
United States.
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Comprehensive Pulmonary-Vascular Del/Dup Panel that also includes the following genes: RPGR BMPR1B BMPR2 SFTPB SLC7A7 SPAG1 TERC TERT NKX2-1 RSPH1
More info about this panel United States.
Primary Ciliary Dyskinesia Del/Dup Panel Panel
United States.
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Primary Ciliary Dyskinesia Del/Dup Panel that also includes the following genes: RPGR SPAG1 RSPH1 NME8 LRRC6 INVS CCNO DNAI2 CFTR HYDIN
More info about this panel United States.
Comprehensive Pulmonary-Vascular Seq + Del/Dup Panel Panel
United States.
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Comprehensive Pulmonary-Vascular Seq + Del/Dup Panel that also includes the following genes: RPGR BMPR1B BMPR2 SFTPB SLC7A7 SPAG1 TERC TERT NKX2-1 RSPH1
More info about this panel United States.
Ciliopathies (NGS panel for 90 genes) Panel
Portugal.
By CGC Genetics Ciliopathies (NGS panel for 90 genes) that also includes the following genes: SDCCAG8 SPAG1 CEP41 RSPH1 CFAP298 ARL6 NEK8 TMEM237 TRIM32 NME8
More info about this panel Portugal.
Primary ciliary dyskinesia (NGS panel for 27 genes) Panel
Portugal.
By CGC Genetics Primary ciliary dyskinesia (NGS panel for 27 genes) that also includes the following genes: SPAG1 RSPH1 CFAP298 NME8 LRRC6 CCNO DNAI2 HYDIN ZMYND10 DNAAF2
More info about this panel Portugal.
Heterotaxy, Situs Inversus and Kartagener's Syndrome Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Heterotaxy, Situs Inversus and Kartagener's Syndrome Sequencing Panel with CNV Detection that also includes the following genes: SPAG1 ZIC3 CFAP298 MMP21 NME8 LRRC6 ACVR2B INVS DNAI2 ZMYND10
More info about this panel United States.
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 United States.
Ciliopathy Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Ciliopathy Sequencing Panel with CNV Detection that also includes the following genes: RPGR SDCCAG8 SPAG1 CEP41 RSPH1 ZIC3 CFAP298 ARL6 NEK8 TMEM237
More info about this panel United States.
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 United States.
Pulmonary diseases - panels Panel
Germany.
By MGZ Medical Genetics Center Pulmonary diseases - panels that also includes the following genes: BMPR1B BMPR2 TBX4 CAV1 CAV3 NME8 ACVRL1 SARS2 CCNO DNAI2
More info about this panel Germany.
Primary ciliary dyskinesia type 25 Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the DNAAF4 gene.
More info about this panel Germany.
Primary Ciliary Dyskinesia Panel Panel
Germany.
By CeGaT GmbH Primary Ciliary Dyskinesia Panel that also includes the following genes: RPGR SPAG1 RSPH1 CFAP298 NME8 LRRC6 CENPF CCNO DNAI2 HYDIN
More info about this panel Germany.
Single gene testing DYX1C1 Panel
Germany.
By CeGaT GmbH
This panel specifically test the DNAAF4 gene.
More info about this panel Germany.
Invitae Congenital Heart Defects and Heterotaxy Panel Panel
United States.
By Invitae Invitae Congenital Heart Defects and Heterotaxy Panel that also includes the following genes: RIT1 RPGR BRAF SOS1 SPAG1 TBX1 TBX5 RSPH1 ZIC3 CFAP298
More info about this panel United States.
Invitae Primary Ciliary Dyskinesia Panel Panel
United States.
By Invitae Invitae Primary Ciliary Dyskinesia Panel that also includes the following genes: RPGR SPAG1 RSPH1 CFAP298 NME8 LRRC6 CCNO DNAI2 ZMYND10 DNAAF2
More info about this panel United States.
Invitae Ciliopathies Panel Panel
United States.
By Invitae Invitae Ciliopathies Panel that also includes the following genes: RPGR SDCCAG8 SPAG1 CEP41 RSPH1 CFAP298 ARL6 NEK8 IFT122 TMEM237
More info about this panel United States.
DYX1C1 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the DNAAF4 gene.
More info about this panel United States.
Primary Ciliary Dyskinesia Panel Panel
Finland.
By Blueprint Genetics Primary Ciliary Dyskinesia Panel that also includes the following genes: RPGR SPAG1 RSPH1 CFAP298 NME8 LRRC6 INVS CENPF CCNO DNAI2
More info about this panel Finland.
Complement System Disorder Panel Panel
Finland.
By Blueprint Genetics Complement System Disorder Panel that also includes the following genes: CFB SPAG1 THBD SERPING1 RSPH1 C1QA C1QB C1QBP C1QC C1S
More info about this panel Finland.
Heterotaxy and Situs Inversus Panel Panel
Finland.
By Blueprint Genetics Heterotaxy and Situs Inversus Panel that also includes the following genes: SPAG1 ZIC3 CFAP298 MMP21 LRRC6 ACVR2B INVS PKD1L1 DNAI2 ZMYND10
More info about this panel Finland.
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 Spain.
Primary Ciliary Dyskinesia: gene sequencing panel Panel
Canada.
By CEN4GEN Institute for Genomics and Molecular Diagnostics Primary Ciliary Dyskinesia: gene sequencing panel that also includes the following genes: SPAG1 RSPH1 CFAP298 NME8 LRRC6 CCNO DNAI2 HYDIN ZMYND10 DNAAF2
More info about this panel Canada.
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