CLCN7 gene related symptoms and diseases
All the information presented here about the CLCN7 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,OMIM,ORPHANET,NCBIGENE, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to CLCN7 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Seizures | Very Common - Between 80% and 100% cases |
| Osteopetrosis | Very Common - Between 80% and 100% cases |
| Increased bone mineral density | Very Common - Between 80% and 100% cases |
| Bone marrow hypocellularity | Very Common - Between 80% and 100% cases |
| Hypocalcemia | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with CLCN7 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Pancytopenia
- Short stature
- Hearing impairment
- Bone pain
- Cranial nerve paralysis
- Hepatosplenomegaly
- Nystagmus
- Facial palsy
And 95 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to CLCN7 gene
Here you will find a list of rare diseases related to the CLCN7. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
ALBERS-SCHÖNBERG OSTEOPETROSIS
Alternate names
ALBERS-SCHÖNBERG OSTEOPETROSIS Is also known as osteopetrosis autosomal dominant type 2, osteopetrosis, autosomal dominant, type ii, marble bones, autosomal dominant, albers-schonberg disease, autosomal dominant, osteosclerosis fragilis generalisata
Description
Albers-Schönberg osteopetrosis is a sclerosing disorder of the skeleton characterized by increased bone density that classically displays the radiographic sign of ''sandwich vertebrae'' (dense bands of sclerosis parallel to the vertebral endplates).
Most common symptoms of ALBERS-SCHÖNBERG OSTEOPETROSIS
- Seizures
- Global developmental delay
- Short stature
- Hearing impairment
- Scoliosis
More info about ALBERS-SCHÖNBERG OSTEOPETROSIS
AUTOSOMAL RECESSIVE MALIGNANT OSTEOPETROSIS
Alternate names
AUTOSOMAL RECESSIVE MALIGNANT OSTEOPETROSIS Is also known as infantile malignant osteopetrosis, osteopetrosis, infantile malignant 2
Description
Infantile malignant osteopetrosis is a rare congenital disorder of bone resorption characterised by generalised skeletal densification.
Most common symptoms of AUTOSOMAL RECESSIVE MALIGNANT OSTEOPETROSIS
- Seizures
- Short stature
- Hearing impairment
- Growth delay
- Nystagmus
More info about AUTOSOMAL RECESSIVE MALIGNANT OSTEOPETROSIS
INTERMEDIATE OSTEOPETROSIS
Alternate names
INTERMEDIATE OSTEOPETROSIS Is also known as autosomal recessive intermediate osteopetrosis, osteopetrosis, autosomal recessive, intermediate form
Description
Intermediate osteopetrosis is a rare, genetic primary bone dysplasia with increased bone density characterized by susceptibility to fractures after minor trauma, anemia, and characteristic skeletal radiographic changes, such as sandwich vertebra, bone-within-bone appearance, Erlenmeyer-shaped femoral metaphysis, and mild osteosclerosis of the skull base. Dental anomalies and visual impairment secondary to optic nerve compression have been rarely described.
Most common symptoms of INTERMEDIATE OSTEOPETROSIS
- Seizures
- Short stature
- Pain
- Pancytopenia
- Increased bone mineral density
More info about INTERMEDIATE OSTEOPETROSIS
Search interest in CLCN7
Potential gene panels for CLCN7 gene
MitoMet®Plus aCGH Analysis Panel
United States.
By Baylor Miraca Genetics Laboratories MitoMet®Plus aCGH Analysis that also includes the following genes: RGS9 RHO GRK1 RLBP1 RNASEL BCS1L RP1 RP2 RP9 RPE65
More info about this panel United States.
CLCN7 Deletion/Duplication Analysis Panel
United States.
By Baylor Miraca Genetics Laboratories
This panel specifically test the CLCN7 gene.
More info about this panel United States.
CLCN7 Comprehensive - Sequence & Deletion/Duplication Analysis Panel
United States.
By Baylor Miraca Genetics Laboratories
This panel specifically test the CLCN7 gene.
More info about this panel United States.
CLCN7 Sequence Analysis (Prenatal Diagnosis) Panel
United States.
By Baylor Miraca Genetics Laboratories
This panel specifically test the CLCN7 gene.
More info about this panel United States.
CLCN7 Sequencing Panel
United States.
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center
This panel specifically test the CLCN7 gene.
More info about this panel United States.
CLCN7. Complete sequencing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the CLCN7 gene.
More info about this panel Spain.
CLCN7. Complete sequencing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the CLCN7 gene.
More info about this panel Spain.
Osteopetrosis (sequence analysis of CLCN7 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the CLCN7 gene.
More info about this panel Portugal.
Lysosomal and peroxisomal diseases (NGS panel of 109 genes) Panel
Portugal.
By CGC Genetics Lysosomal and peroxisomal diseases (NGS panel of 109 genes) that also includes the following genes: SC5D SCP2 SGSH SHOX SLC17A5 SMPD1 TCIRG1 ACOX1 ACP2 MCOLN1
More info about this panel Portugal.
Lysosomal and peroxisomal diseases (NGS panel of 109 genes) Panel
Portugal.
By CGC Genetics Lysosomal and peroxisomal diseases (NGS panel of 109 genes) that also includes the following genes: SC5D SCP2 SGSH SHOX SLC17A5 SMPD1 TCIRG1 ACOX1 ACP2 MCOLN1
More info about this panel Portugal.
Osteopetrosis via CLCN7 Gene Sequencing with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics
This panel specifically test the CLCN7 gene.
More info about this panel United States.
Skeletal Disorders and Joint Problems Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Skeletal Disorders and Joint Problems Sequencing Panel with CNV Detection that also includes the following genes: RMRP ROR2 RUNX2 SALL1 BMP1 BMP2 BMPR1B SF3B4 SH3BP2 FBXW4
More info about this panel United States.
Osteopetrosis core NGS panel Panel
United States.
By Connective Tissue Gene Tests Osteopetrosis core NGS panel that also includes the following genes: TCIRG1 CLCN7 OSTM1
More info about this panel United States.
Osteopetrosis core Deletion / Duplication panel Panel
United States.
By Connective Tissue Gene Tests Osteopetrosis core Deletion / Duplication panel that also includes the following genes: TCIRG1 CLCN7 OSTM1
More info about this panel United States.
Osteopetrosis and Dense bone dysplasia Deletion / Duplication panel Panel
United States.
By Connective Tissue Gene Tests Osteopetrosis and Dense bone dysplasia Deletion / Duplication panel that also includes the following genes: SLCO2A1 TBXAS1 TCIRG1 TGFB1 TNFRSF11A TNFRSF11B TNFSF11 TYROBP CA2 SOST
More info about this panel United States.
Osteopetrosis core Comprehensive panel Panel
United States.
By Connective Tissue Gene Tests Osteopetrosis core Comprehensive panel that also includes the following genes: TCIRG1 CLCN7 OSTM1
More info about this panel United States.
Osteopetrosis Deletion / Duplication panel Panel
United States.
By Connective Tissue Gene Tests Osteopetrosis Deletion / Duplication panel that also includes the following genes: TCIRG1 TNFRSF11A TNFSF11 CA2 SNX10 CLCN7 OSTM1 FAM20C FERMT3 CTSK
More info about this panel United States.
Osteopetrosis and Dense bone dysplasia NGS panel Panel
United States.
By Connective Tissue Gene Tests Osteopetrosis and Dense bone dysplasia NGS panel that also includes the following genes: SLCO2A1 TBXAS1 TCIRG1 TGFB1 TNFRSF11A TNFRSF11B TNFSF11 TYROBP CA2 SOST
More info about this panel United States.
Osteopetrosis Comprehensive panel Panel
United States.
By Connective Tissue Gene Tests Osteopetrosis Comprehensive panel that also includes the following genes: TCIRG1 TNFRSF11A TNFSF11 CA2 SNX10 CLCN7 OSTM1 FAM20C FERMT3 CTSK
More info about this panel United States.
Osteopetrosis and Dense bone dysplasia Comprehensive panel Panel
United States.
By Connective Tissue Gene Tests Osteopetrosis and Dense bone dysplasia Comprehensive panel that also includes the following genes: SLCO2A1 TBXAS1 TCIRG1 TGFB1 TNFRSF11A TNFRSF11B TNFSF11 TYROBP CA2 SOST
More info about this panel United States.
Osteopetrosis NGS panel Panel
United States.
By Connective Tissue Gene Tests Osteopetrosis NGS panel that also includes the following genes: TCIRG1 TNFRSF11A TNFSF11 CA2 SNX10 CLCN7 OSTM1 FAM20C FERMT3 CTSK
More info about this panel United States.
Osteopetrosis, autosomal dominant 2 & autosomal recessive 4 Comprehensive Test Panel
United States.
By Connective Tissue Gene Tests
This panel specifically test the CLCN7 gene.
More info about this panel United States.
Osteopetrosis, autosomal dominant 2 & autosomal recessive 4 Deletion / Duplication Test Panel
United States.
By Connective Tissue Gene Tests
This panel specifically test the CLCN7 gene.
More info about this panel United States.
Osteopetrosis, autosomal dominant 2 & autosomal recessive 4 NGS Test Panel
United States.
By Connective Tissue Gene Tests
This panel specifically test the CLCN7 gene.
More info about this panel United States.
Osteopetrosis type autosomal dominant type 1 Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the CLCN7 gene.
More info about this panel Germany.
Osteopetrosis autosomal recessive type 4 Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the CLCN7 gene.
More info about this panel Germany.
Skeletal dysplasia with increased bone density Panel Panel
Germany.
By CeGaT GmbH Skeletal dysplasia with increased bone density Panel that also includes the following genes: SLCO2A1 TBXAS1 TCIRG1 TGFB1 TNFRSF11A TNFRSF11B TNFSF11 CA2 SOST SNX10
More info about this panel Germany.
CLCN7-Related osteopetrosis: CLCN7 gene sequence analysis Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the CLCN7 gene.
More info about this panel Spain.
OSTEOPETROSIS Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases OSTEOPETROSIS that also includes the following genes: TCIRG1 TNFRSF11A TNFSF11 SNX10 CLCN7 OSTM1 PLEKHM1 LRP5
More info about this panel Spain.
Skeletal Dysplasia With Increased Bone Density: Sequencing Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Skeletal Dysplasia With Increased Bone Density: Sequencing Panel that also includes the following genes: TBXAS1 TCIRG1 TGFB1 TNFRSF11A TNFRSF11B TNFSF11 TYROBP CA2 SOST ANKH
More info about this panel United States.
Skeletal Dysplasia: Sequencing Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Skeletal Dysplasia: Sequencing Panel that also includes the following genes: ROR2 RUNX2 SALL1 BMP2 BMPR1B FBXW4 SHH SHOX SLC25A12 SLC26A2
More info about this panel United States.
Nuclear-Mito NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Nuclear-Mito NGS Panel that also includes the following genes: RNASEL BCS1L RPL35A MRPL3 RYR1 RYR2 SACS ACSM3 SARDH ATXN7
More info about this panel United States.
Skeletal Dysplasias NGS panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Skeletal Dysplasias NGS panel that also includes the following genes: ROR2 RUNX2 SALL1 BMP2 BMPR1B FBXW4 SHH SLC25A12 SLC26A2 SMARCAL1
More info about this panel United States.
CLCN7 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the CLCN7 gene.
More info about this panel United States.
Osteopetrosis and Dense Bone Dysplasia Panel Panel
Finland.
By Blueprint Genetics Osteopetrosis and Dense Bone Dysplasia Panel that also includes the following genes: SLCO2A1 TCIRG1 TGFB1 TNFRSF11A TNFRSF11B TNFSF11 TYROBP CA2 SOST SNX10
More info about this panel Finland.
Primary Immunodeficiency Panel Panel
Finland.
By Blueprint Genetics Primary Immunodeficiency Panel that also includes the following genes: RMRP RORC CFB BLM SH2D1A SLC7A7 SMARCAL1 SMARCD2 SRP72 BTK
More info about this panel Finland.
Comprehensive Hematology Panel Panel
Finland.
By Blueprint Genetics Comprehensive Hematology Panel that also includes the following genes: RHAG RIT1 RPL11 RPL15 RPL35A RPL5 RPS10 RPS19 RPS24 RPS26
More info about this panel Finland.
Skeletal Dysplasias Core Panel Panel
Finland.
By Blueprint Genetics Skeletal Dysplasias Core Panel that also includes the following genes: RMRP ROR2 RUNX2 BMP1 BMPR1B SHOX SLC26A2 SMARCAL1 SOX9 TCIRG1
More info about this panel Finland.
Comprehensive Skeletal Dysplasias and Disorders Panel Panel
Finland.
By Blueprint Genetics Comprehensive Skeletal Dysplasias and Disorders Panel that also includes the following genes: RMRP ROR2 BGN RUNX2 BMP1 BMP2 BMPR1B SF3B4 SH3BP2 SHOX
More info about this panel Finland.
Anemia Panel Panel
Finland.
By Blueprint Genetics Anemia Panel that also includes the following genes: RHAG RPL11 RPL15 RPL35A RPL5 RPS10 RPS19 RPS24 RPS26 RPS29
More info about this panel Finland.
Comprehensive Growth Disorders / Skeletal Dysplasias and Disorders Panel Panel
Finland.
By Blueprint Genetics Comprehensive Growth Disorders / Skeletal Dysplasias and Disorders Panel that also includes the following genes: RIT1 RMRP BCS1L ROR2 BGN RRAS RUNX2 BMP1 BMP2 SEC24D
More info about this panel Finland.
Autosomal recessive osteopetrosis type 4 Panel
Spain.
By Bioarray
This panel specifically test the CLCN7 gene.
More info about this panel Spain.
Osteopetrosis autosomal dominant type 2 Panel
Spain.
By Bioarray
This panel specifically test the CLCN7 gene.
More info about this panel Spain.
Osteopetrosis NGS and Deletion/Duplication Panel Panel
United States.
By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children Osteopetrosis NGS and Deletion/Duplication Panel that also includes the following genes: TCIRG1 TNFRSF11A TNFSF11 CA2 SNX10 CLCN7 OSTM1 PLEKHM1 LRP5
More info about this panel United States.
Osteopetrosis, Autosomal Dominant Only NGS and Deletion/Duplication Panel Panel
United States.
By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children Osteopetrosis, Autosomal Dominant Only NGS and Deletion/Duplication Panel that also includes the following genes: CLCN7 LRP5
More info about this panel United States.
CLCN7 Gene Sequencing and Deletion/Duplication Analysis Panel
United States.
By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children
This panel specifically test the CLCN7 gene.
More info about this panel United States.
OSTEOPETROSIS, AUTOSOMAL RECESSIVE Panel
Spain.
By Laboratorio de Genetica Clinica SL OSTEOPETROSIS, AUTOSOMAL RECESSIVE that also includes the following genes: TCIRG1 TNFRSF11A TNFSF11 CA2 SNX10 CLCN7 OSTM1 PLEKHM1
More info about this panel Spain.
OSTEOPETROSIS, AUTOSOMAL DOMINANT (ALBERS-SCHONBERG DISEASE) Panel
Spain.
By Laboratorio de Genetica Clinica SL
This panel specifically test the CLCN7 gene.
More info about this panel Spain.
OSTEOPETROSIS NGS PANEL Panel
Spain.
By Laboratorio de Genetica Clinica SL OSTEOPETROSIS NGS PANEL that also includes the following genes: TCIRG1 TNFRSF11A TNFSF11 CA2 SNX10 CLCN7 OSTM1 PLEKHM1 LRP5
More info about this panel Spain.
Autosomal Recessive Osteopetrosis Type 4 , Sequencing CLCN7 Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the CLCN7 gene.
More info about this panel Spain.
Autosomal Dominant Osteopetrosis Type 2 , Sequencing CLCN7 Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the CLCN7 gene.
More info about this panel Spain.
Autosomal Dominant Osteopetrosis Type 2 , Sequencing CLCN7 Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the CLCN7 gene.
More info about this panel Spain.
Osteopetrosis , Panel Massive Sequencing (NGS) 9 Genes Panel
Spain.
By Reference Laboratory Genetics Osteopetrosis , Panel Massive Sequencing (NGS) 9 Genes that also includes the following genes: TCIRG1 TNFRSF11A TNFSF11 CA2 SNX10 CLCN7 OSTM1 PLEKHM1 LRP5
More info about this panel Spain.
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