PIH1D3 gene related symptoms and diseases
All the information presented here about the PIH1D3 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 PIH1D3 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Neonatal respiratory distress | Very Common - Between 80% and 100% cases |
| Cough | Very Common - Between 80% and 100% cases |
| Ciliary dyskinesia | Very Common - Between 80% and 100% cases |
| Chronic otitis media | Very Common - Between 80% and 100% cases |
| Situs inversus totalis | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with PIH1D3 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Sinusitis
- Bronchiectasis
- Chronic sinusitis
- Dyskinesia
- Infertility
- Otitis media
- Recurrent sinusitis
- Immotile cilia
And 32 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to PIH1D3 gene
Here you will find a list of rare diseases related to the PIH1D3. 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, 36, X-LINKED; CILD36
Alternate names
CILIARY DYSKINESIA, PRIMARY, 36, X-LINKED; CILD36 Is also known as ciliary dyskinesia, primary, 36, with or without situs inversus
Description
CILD36 is an X-linked recessive disorder characterized by chronic airway disease and recurrent sinopulmonary infections beginning in childhood and caused by defective ciliary function. Affected individuals also have infertility due to defective sperm flagella. About half of patients have laterality defects due to ciliary dysfunction at the embryonic node (summary by Paff et al., 2017).For a phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see CILD1 (OMIM ).
Most common symptoms of CILIARY DYSKINESIA, PRIMARY, 36, X-LINKED; CILD36
- Respiratory distress
- Cough
- Infertility
- Dyskinesia
- Otitis media
More info about CILIARY DYSKINESIA, PRIMARY, 36, X-LINKED; CILD36
SOURCES: OMIM
Search interest in PIH1D3
Potential gene panels for PIH1D3 gene
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.
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.
Primary Ciliary Dyskinesia (PCD) via PIH1D3 Gene Sequencing with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics
This panel specifically test the PIH1D3 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.
Comprehensive Pulmonology Panel Panel
Finland.
By Blueprint Genetics Comprehensive Pulmonology Panel that also includes the following genes: SCN4A SCNN1A SCNN1B SFTPA1 SFTPA2 SFTPB SFTPC SLC34A2 SLC6A5 SLC7A7
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.
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