SNX10 gene related symptoms and diseases
All the information presented here about the SNX10 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,OMIM,HGNC,NCBIGENE, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to SNX10 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Osteopetrosis | Very Common - Between 80% and 100% cases |
| Optic atrophy | Very Common - Between 80% and 100% cases |
| Facial palsy | Very Common - Between 80% and 100% cases |
| Hepatosplenomegaly | Very Common - Between 80% and 100% cases |
| Hydrocephalus | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with SNX10 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Splenomegaly
- Macrocephaly
- Anemia
- Hepatomegaly
Not very common - Between 30% and 50% cases
- Bone pain
- Abnormality of epiphysis morphology
- Bowing of the long bones
- Abnormality of the metaphysis
And 59 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to SNX10 gene
Here you will find a list of rare diseases related to the SNX10. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
OSTEOPETROSIS, AUTOSOMAL RECESSIVE 8; OPTB8
Most common symptoms of OSTEOPETROSIS, AUTOSOMAL RECESSIVE 8; OPTB8
- Failure to thrive
- Strabismus
- Anemia
- Feeding difficulties
- Hepatomegaly
More info about OSTEOPETROSIS, AUTOSOMAL RECESSIVE 8; OPTB8
SOURCES: OMIM
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
Search interest in SNX10
Potential gene panels for SNX10 gene
Osteopetrosis autosomal recessive 8 (sequence analysis of SNX10 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the SNX10 gene.
More info about this panel Portugal.
Osteopetrosis via SNX10 Gene Sequencing with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics
This panel specifically test the SNX10 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 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 of infancy, malignant Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the SNX10 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.
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.
SNX10 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the SNX10 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.
Optic Atrophy Panel Panel
Finland.
By Blueprint Genetics Optic Atrophy Panel that also includes the following genes: SPG7 ACO2 TIMM8A WFS1 SNX10 MFN2 RTN4IP1 CISD2 SLC25A46 TMEM126A
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.
Skeletal Dysplasia with Abnormal Mineralization Panel Panel
Finland.
By Blueprint Genetics Skeletal Dysplasia with Abnormal Mineralization Panel that also includes the following genes: SOX9 TNFRSF11A TNFRSF11B VDR SNX10 CASR ANKH FKBP10 P3H1 CLCN5
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 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.
SNX10 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 SNX10 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 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.
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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