CLDN16 gene related symptoms and diseases
All the information presented here about the CLDN16 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,NCBIGENE,OMIM,HGNC, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to CLDN16 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Seizures | Very Common - Between 80% and 100% cases |
| Enuresis | Very Common - Between 80% and 100% cases |
| Male infertility | Very Common - Between 80% and 100% cases |
| Hyperuricemia | Very Common - Between 80% and 100% cases |
| Renal tubular acidosis | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with CLDN16 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Acute kidney injury
- Abnormality of lipid metabolism
- Amelogenesis imperfecta
- Ankylosis
- Hypoparathyroidism
- Hypomagnesemia
- Oligospermia
- Chondrocalcinosis
And 41 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to CLDN16 gene
Here you will find a list of rare diseases related to the CLDN16. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
FAMILIAL PRIMARY HYPOMAGNESEMIA WITH HYPERCALCIURIA AND NEPHROCALCINOSIS WITHOUT SEVERE OCULAR INVOLVEMENT
Alternate names
FAMILIAL PRIMARY HYPOMAGNESEMIA WITH HYPERCALCIURIA AND NEPHROCALCINOSIS WITHOUT SEVERE OCULAR INVOLVEMENT Is also known as fhhnc without severe ocular involvement, homg3, hypomagnesemia, isolated renal, hypomagnesemia, primary, due to defect in renal tubular transport of magnesium, renal hypomagnesemia type 3, hypomagnesemia, familial, with hypercalciuria and nephrocalcinosis
Description
Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement (FHHN) is a form of familial primary hypomagnesemia (FPH; see this term), characterized by recurrent urinary tract infections, nephrolithiasis, bilateral nephrocalcinosis, renal magnesium (Mg) wasting, hypercalciuria and kidney failure.
Most common symptoms of FAMILIAL PRIMARY HYPOMAGNESEMIA WITH HYPERCALCIURIA AND NEPHROCALCINOSIS WITHOUT SEVERE OCULAR INVOLVEMENT
- Seizures
- Hearing impairment
- Nystagmus
- Failure to thrive
- Strabismus
More info about FAMILIAL PRIMARY HYPOMAGNESEMIA WITH HYPERCALCIURIA AND NEPHROCALCINOSIS WITHOUT SEVERE OCULAR INVOLVEMENT
Search interest in CLDN16
Potential gene panels for CLDN16 gene
ExomePLUS Electrolyte & Kidney Stone Panel
United States.
By Laboratory for Molecular Medicine Partners HealthCare Personalized Medicine ExomePLUS Electrolyte & Kidney Stone that also includes the following genes: SCNN1A SCNN1B SLC12A1 SLC12A3 SLC2A2 VDR WNK4 CASR BSND CDC73
More info about this panel United States.
CLDN16.Complete sequencing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the CLDN16 gene.
More info about this panel Spain.
Renal hypomagnesemia with hypercalciuria and nephrocalcinosis (sequence analysis of CLDN16 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the CLDN16 gene.
More info about this panel Portugal.
Hypomagnesemia (NGS panel for 17 genes) Panel
Portugal.
By CGC Genetics Hypomagnesemia (NGS panel for 17 genes) that also includes the following genes: CNNM2 SLC12A3 HNF1B CASR BSND SARS2 TRPM6 CLCNKB CLDN16 CLDN19
More info about this panel Portugal.
Hypomagnesemia (NGS panel for 17 genes) Panel
Portugal.
By CGC Genetics Hypomagnesemia (NGS panel for 17 genes) that also includes the following genes: CNNM2 SLC12A3 HNF1B CASR BSND SARS2 TRPM6 CLCNKB CLDN16 CLDN19
More info about this panel Portugal.
Hypomagnesemia 3, renal Panel
Germany.
By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders
This panel specifically test the CLDN16 gene.
More info about this panel Germany.
Renal Hypomagnesemia 3 via CLDN16 Gene Sequencing with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics
This panel specifically test the CLDN16 gene.
More info about this panel United States.
Hypomagnesemia Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Hypomagnesemia Sequencing Panel with CNV Detection that also includes the following genes: CNNM2 SLC12A3 HNF1B CASR BSND SARS2 TRPM6 CLDN16 CLDN19 FAM111A
More info about this panel United States.
Nephrolithiasis and Nephrocalcinosis Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Nephrolithiasis and Nephrocalcinosis Sequencing Panel with CNV Detection that also includes the following genes: SLC12A1 SLC26A1 SLC34A1 SLC3A1 SLC7A9 SLC9A3R1 VDR XDH SLC2A9 CA2
More info about this panel United States.
Nephrolithiasis and related disorders NGS panel Panel
United States.
By Connective Tissue Gene Tests Nephrolithiasis and related disorders NGS panel that also includes the following genes: SLC12A1 SLC26A1 SLC34A1 SLC3A1 SLC7A9 SLC9A3R1 XDH SLC2A9 CA2 CASR
More info about this panel United States.
Nephrolithiasis and related disorders Comprehensive panel Panel
United States.
By Connective Tissue Gene Tests Nephrolithiasis and related disorders Comprehensive panel that also includes the following genes: SLC12A1 SLC26A1 SLC34A1 SLC3A1 SLC7A9 SLC9A3R1 XDH SLC2A9 CA2 CASR
More info about this panel United States.
Nephrolithiasis and related disorders Deletion / Duplication panel Panel
United States.
By Connective Tissue Gene Tests Nephrolithiasis and related disorders Deletion / Duplication panel that also includes the following genes: SLC12A1 SLC26A1 SLC34A1 SLC3A1 SLC7A9 SLC9A3R1 XDH SLC2A9 CA2 CASR
More info about this panel United States.
Hereditary kidney disorders - different panels Panel
Germany.
By Institute of Human Genetics Uniklinik RWTH Aachen Hereditary kidney disorders - different panels that also includes the following genes: BCS1L ROBO2 CNNM2 CFB SALL1 ATXN10 SCNN1A SCNN1B SCNN1G SDCCAG8
More info about this panel Germany.
Bartter Syndrome panel Panel
Germany.
By Centogene AG - the Rare Disease Company Bartter Syndrome panel that also includes the following genes: SCNN1A SCNN1B SCNN1G SLC12A1 SLC12A2 SLC12A3 SLC12A7 SLC4A4 CA2 SLC12A5
More info about this panel Germany.
Hypomagnesemia 3, renal Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the CLDN16 gene.
More info about this panel Germany.
BARTTER SYNDROME Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases BARTTER SYNDROME that also includes the following genes: SCNN1A SCNN1B SCNN1G SLC12A1 SLC12A2 SLC12A3 SLC12A7 SLC4A4 CA2 SLC12A5
More info about this panel Spain.
CLDN16 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the CLDN16 gene.
More info about this panel United States.
KidneySeq - 264 Genes Panel
United States.
By Iowa Institute of Human Genetics University of Iowa KidneySeq - 264 Genes that also includes the following genes: ROBO2 CNNM2 SALL1 ATXN10 SCNN1A SCNN1B SCNN1G SDCCAG8 BMP4 SEMA3E
More info about this panel United States.
Hypomagnesemia Panel Panel
Finland.
By Blueprint Genetics Hypomagnesemia Panel that also includes the following genes: CNNM2 CNNM4 SLC12A3 HNF1B CASR BSND NIPA2 SARS2 TRPM6 CLCNKB
More info about this panel Finland.
Comprehensive Metabolism Panel Panel
Finland.
By Blueprint Genetics Comprehensive Metabolism Panel that also includes the following genes: BCS1L CNNM2 RYR1 CNNM4 SCN4A SEC23B SGSH SI SLC40A1 SLC12A3
More info about this panel Finland.
Nephrolithiasis Panel Panel
Finland.
By Blueprint Genetics Nephrolithiasis Panel that also includes the following genes: SLC12A1 SLC26A1 SLC34A1 SLC3A1 SLC7A9 SLC9A3R1 VDR XDH SLC2A9 CA2
More info about this panel Finland.
Hypomagnesemia 3, renal Panel
Spain.
By Bioarray
This panel specifically test the CLDN16 gene.
More info about this panel Spain.
HYPOMAGNESEMIA WITH HYPERCALCIURIA AND NEPHROCALCINOSIS Panel
Spain.
By Laboratorio de Genetica Clinica SL HYPOMAGNESEMIA WITH HYPERCALCIURIA AND NEPHROCALCINOSIS that also includes the following genes: CLDN16 CLDN19
More info about this panel Spain.
HYPOMAGNESEMIA NGS PANEL Panel
Spain.
By Laboratorio de Genetica Clinica SL HYPOMAGNESEMIA NGS PANEL that also includes the following genes: CNNM2 SLC12A3 HNF1B TRPM6 CLDN16 CLDN19 EGF FXYD2 KCNA1
More info about this panel Spain.
BARTTER SYNDROME NGS PANEL Panel
Spain.
By Laboratorio de Genetica Clinica SL BARTTER SYNDROME NGS PANEL that also includes the following genes: SCNN1A SCNN1B SCNN1G SLC12A1 SLC12A2 SLC12A3 SLC12A7 SLC4A4 CA2 SLC12A5
More info about this panel Spain.
Renal Hypomagnesemia Type 3 , Sequencing CLDN16 Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the CLDN16 gene.
More info about this panel Spain.
Bartter Syndrome and related disorders , Panel Massive Sequencing (NGS) 22 Genes Panel
Spain.
By Reference Laboratory Genetics Bartter Syndrome and related disorders , Panel Massive Sequencing (NGS) 22 Genes that also includes the following genes: SCNN1A SCNN1B SCNN1G SLC12A1 SLC12A3 CA2 WNK1 WNK4 CASR BSND
More info about this panel Spain.
Familial Hypomagnesemia , Panel Massive Sequencing (NGS) 14 Genes Panel
Spain.
By Reference Laboratory Genetics Familial Hypomagnesemia , Panel Massive Sequencing (NGS) 14 Genes that also includes the following genes: CNNM2 SLC12A3 HNF1B CASR SARS2 TRPM6 CLCNKB CLDN16 CLDN19 EGF
More info about this panel Spain.
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