CA2 gene related symptoms and diseases
All the information presented here about the CA2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,HGNC,ORPHANET,NCBIGENE, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to CA2 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Intellectual disability | Very Common - Between 80% and 100% cases |
| Dental malocclusion | Very Common - Between 80% and 100% cases |
| Global developmental delay | Very Common - Between 80% and 100% cases |
| Osteomalacia | Very Common - Between 80% and 100% cases |
| Cerebral calcification | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with CA2 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Osteopetrosis
- Anemia
- Visual impairment
Not very common - Between 30% and 50% cases
- Hepatomegaly
- Restrictive ventilatory defect
- Intellectual disability, severe
- Abnormality of the dentition
- Visual loss
And 39 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to CA2 gene
Here you will find a list of rare diseases related to the CA2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
OSTEOPETROSIS WITH RENAL TUBULAR ACIDOSIS
Alternate names
OSTEOPETROSIS WITH RENAL TUBULAR ACIDOSIS Is also known as mixed rta, mixed renal tubular acidosis, renal tubular acidosis type 3, rta, bicarbonate-wasting type, rta, dislocation type, guibaud-vainsel syndrome, carbonic anhydrase 2 deficiency, marble brain disease
Description
Osteopetrosis with renal tubular acidosis is a rare disorder characterized by osteopetrosis (see this term), renal tubular acidosis (RTA), and neurological disorders related to cerebral calcifications.
Most common symptoms of OSTEOPETROSIS WITH RENAL TUBULAR ACIDOSIS
- Intellectual disability
- Global developmental delay
- Failure to thrive
- Anemia
- Visual impairment
More info about OSTEOPETROSIS WITH RENAL TUBULAR ACIDOSIS
OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3; OPTB3
Alternate names
OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3; OPTB3 Is also known as carbonic anhydrase ii deficiency, guibaud-vainsel syndrome, marble brain disease, osteopetrosis with renal tubular acidosis
Most common symptoms of OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3; OPTB3
- Intellectual disability
- Global developmental delay
- Short stature
- Growth delay
- Muscle weakness
More info about OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3; OPTB3
Search interest in CA2
Potential gene panels for CA2 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.
CA2 Sequence Analysis (Prenatal Diagnosis) Panel
United States.
By Baylor Miraca Genetics Laboratories
This panel specifically test the CA2 gene.
More info about this panel United States.
CA2 Comprehensive - Sequence & Deletion/Duplication Analysis Panel
United States.
By Baylor Miraca Genetics Laboratories
This panel specifically test the CA2 gene.
More info about this panel United States.
CA2 Sequence Analysis Panel
United States.
By Baylor Miraca Genetics Laboratories
This panel specifically test the CA2 gene.
More info about this panel United States.
CA2 Deletion/Duplication Analysis Panel
United States.
By Baylor Miraca Genetics Laboratories
This panel specifically test the CA2 gene.
More info about this panel United States.
Renal tubular acidosis autosomal recessive with osteoperosis Panel
United States.
By Genetics Laboratory Shodair Children's Hospital
This panel specifically test the CA2 gene.
More info about this panel United States.
CA2 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 CA2 gene.
More info about this panel United States.
CA2. Complete sequencing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the CA2 gene.
More info about this panel Spain.
Osteopetrosis with renal tubular acidosis 3, AR (sequence analysis of CA2 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the CA2 gene.
More info about this panel Portugal.
Osteopetrosis type 3 (c.232+1G>A mutation on CA2 gene, arab mutation) Panel
Portugal.
By CGC Genetics
This panel specifically test the CA2 gene.
More info about this panel Portugal.
Osteopetrosis with renal tubular acidosis Panel
Germany.
By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders
This panel specifically test the CA2 gene.
More info about this panel Germany.
Osteopetrosis via CA2 Gene Sequencing with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics
This panel specifically test the CA2 gene.
More info about this panel United States.
Distal Renal Tubular Acidosis Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Distal Renal Tubular Acidosis Sequencing Panel with CNV Detection that also includes the following genes: CA2 ATP6V1B1 ATP6V0A4
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.
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.
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.
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 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 with renal tubular acidosis 3 NGS Test Panel
United States.
By Connective Tissue Gene Tests
This panel specifically test the CA2 gene.
More info about this panel United States.
Osteopetrosis with renal tubular acidosis 3 Comprehensive Test Panel
United States.
By Connective Tissue Gene Tests
This panel specifically test the CA2 gene.
More info about this panel United States.
Osteopetrosis with renal tubular acidosis 3 Deletion / Duplication Test Panel
United States.
By Connective Tissue Gene Tests
This panel specifically test the CA2 gene.
More info about this panel United States.
Mental retardation - different panels Panel
Germany.
By Institute of Human Genetics Uniklinik RWTH Aachen Mental retardation - different panels that also includes the following genes: RGS7 RIT1 RMRP BCS1L RPL10 RPS6KA3 RRAS SALL1 SC5D ATXN10
More info about this panel Germany.
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.
Osteopetrosis type 3 Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the CA2 gene.
More info about this panel Germany.
Renal tubular acidosis Panel Panel
Germany.
By CeGaT GmbH Renal tubular acidosis Panel that also includes the following genes: SLC4A4 CA2 ATP6V1B1 ATP6V0A4
More info about this panel Germany.
Basal ganglia calcification Panel Panel
Germany.
By CeGaT GmbH Basal ganglia calcification Panel that also includes the following genes: SLC20A2 BRAF TBCE TREX1 TYROBP XPR1 CA2 PANK2 SAMHD1 TREM2
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.
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.
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.
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.
CA2 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the CA2 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.
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.
Renal Tubular Acidosis Panel Panel
Finland.
By Blueprint Genetics Renal Tubular Acidosis Panel that also includes the following genes: SLC4A4 CA2 ATP6V1B1 ATP6V0A4
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.
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.
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.
Osteopetrosis, autosomal recessive 3, with renal tubular acidosis Panel
Spain.
By Bioarray
This panel specifically test the CA2 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.
CA2 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 CA2 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 WITH RENAL TUBULAR ACIDOSIS Panel
Spain.
By Laboratorio de Genetica Clinica SL
This panel specifically test the CA2 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.
RENAL TUBULAR NGS PANEL Panel
Spain.
By Laboratorio de Genetica Clinica SL RENAL TUBULAR NGS PANEL that also includes the following genes: SLC4A4 CA2 ATP6V1B1 ATP6V0A4
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.
Autosomal Recessive Malignant Osteopetrosis Type 3 with Renal Tubular Acidosis ,Sequencing CA2 Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the CA2 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.
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.
Renal Tubular Acidosis, Panel Massive Sequencing (NGS) ATP6V0A4, ATP6V1B1, CA2, SLC4A1, SLC4A4 Genes Panel
Spain.
By Reference Laboratory Genetics Renal Tubular Acidosis, Panel Massive Sequencing (NGS) ATP6V0A4, ATP6V1B1, CA2, SLC4A1, SLC4A4 Genes that also includes the following genes: SLC4A4 CA2 ATP6V1B1 ATP6V0A4
More info about this panel Spain.
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