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.

Mendelian

Accelerate your rare disease diagnosis with us

Learn more

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

SOURCES: OMIM ORPHANET

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

SOURCES: OMIM ORPHANET MESH

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

SOURCES: ORPHANET OMIM MESH


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

CLCN7 Deletion/Duplication Analysis Panel

United States.

By Baylor Miraca Genetics Laboratories

This panel specifically test the CLCN7 gene.

More info about this panel

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

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

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

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

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

Osteopetrosis (sequence analysis of CLCN7 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the CLCN7 gene.

More info about this panel

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

CLCN7 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the CLCN7 gene.

More info about this panel

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

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

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

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

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

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

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

Autosomal recessive osteopetrosis type 4 Panel

Spain.

By Bioarray

This panel specifically test the CLCN7 gene.

More info about this panel

Osteopetrosis autosomal dominant type 2 Panel

Spain.

By Bioarray

This panel specifically test the CLCN7 gene.

More info about this panel

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

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

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

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

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

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

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

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

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

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


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like SOS1

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more