Mutation in the SNX10 Gene: Causes & Reasons

Possible Causes for Mutation in the SNX10 Gene

Autosomal Recessive Osteopetrosis Type 8

[…] in the SNX10 gene on chromosome 7p15. [malacards.org]

A sub-type of autosomal recessive osteopetrosis caused by mutation(s) in the SNX10 gene, encoding sorting nexin-10. [ncbi.nlm.nih.gov]

[…] phenotypes are macrocephaly and failure to thrive Disease Ontology : 12 An osteopetrosis characterized by autosomal recessive inheritance that has material basis in homozygous mutation [malacards.org]

Osteopetrosis

Recently a mutation in the SNX10 gene that belongs to the sorting nexin family was identified as a cause of a new subset of human autosomal recessive osteopetrosis. [ncbi.nlm.nih.gov]

There were 12 patients with different mutations in the TCIRG1 gene, five with mutations in the SNX10 gene, four children harbored RANK mutations, and one patient had a CLCN7 [ncbi.nlm.nih.gov]

[…] in a highly conserved residue in the SNX10 gene. [jmg.bmj.com]

Myopia Type 17

Latham-Munro Syndrome

[…] and variant to protein and phenotype Marianne Sakr ABI FADEL, PCSK9 from gene to therapeutic Target Marianne Sakr ABI FADEL, Homozygous stop mutation in the SNX10 gene in [usj.edu.lb]

[…] a consanguineous Iraqi boy with osteopetrosis and corpus callosum hypoplasia Joseph Maroun MAARRAWI, 4 pages TGFB2 mutations cause familial thoracic aortic aneurysms and [usj.edu.lb]

[…] dominant Hypercholesterolemia in a French Family Marianne Sakr ABI FADEL, 01/01/2005 1 pages PCSK9, a new target in hypercholesterolemia Marianne Sakr ABI FADEL, PCSK9 : from gene [usj.edu.lb]

Autosomal Recessive Osteopetrosis Type 2

After the report that SNX10 mutations can cause osteopetrosis, this gene was also included in the study. [ajmb.org]

Homozygote mutations in SNX10 gene, located on 7p15.2, causes autosomal recessive form of osteopetrosis. [ajmb.org]

[…] no mutation on these genes. [ajmb.org]

Pancreatic Insufficiency - Anemia - Hyperostosis

Another form of autosomal recessive osteopetrosis ( OPTB8 ) is caused by mutation in the SNX10 gene ( OMIM ) on chromosome 7p15. [mendelian.co]

[…] in the TNFRSF11A gene ( OMIM ) on chromosome 18q22.1. [mendelian.co]

is caused by mutation in the PLEKHM1 gene ( OMIM ) on chromosome 17q21, and a severe osteoclast-poor form associated with hypogammaglobulinemia ( OPTB7 ) is caused by mutation [mendelian.co]

Autosomal Recessive Osteopetrosis Type 5

Another form of autosomal recessive osteopetrosis ( OPTB8 ) is caused by mutation in the SNX10 gene ( OMIM ) on chromosome 7p15. [mendelian.co]

This is especially true of P1, who had a mutation in the SNX10 gene and who presented much later than his MIOP family members with the same mutation. [ashpublications.org]

Osteopetrosis is currently known to be caused by mutations in the following genes: CLCN7, LRP5, TCIRG1, TNFSF11, CA2, OSTM1, PLEKHM1, SNX10 and TNFRSF11A. [preventiongenetics.com]

NISCH Syndrome

Another form of autosomal recessive osteopetrosis ( OPTB8 ) is caused by mutation in the SNX10 gene ( OMIM ) on chromosome 7p15. [mendelian.co]

[…] in the TNFRSF11A gene ( OMIM ) on chromosome 18q22.1. [mendelian.co]

is caused by mutation in the PLEKHM1 gene ( OMIM ) on chromosome 17q21, and a severe osteoclast-poor form associated with hypogammaglobulinemia ( OPTB7 ) is caused by mutation [mendelian.co]

AICA-Ribosiduria

Another form of autosomal recessive osteopetrosis ( OPTB8 ) is caused by mutation in the SNX10 gene ( OMIM ) on chromosome 7p15. [mendelian.co]

[…] in the TNFRSF11A gene ( OMIM ) on chromosome 18q22.1. [mendelian.co]

is caused by mutation in the PLEKHM1 gene ( OMIM ) on chromosome 17q21, and a severe osteoclast-poor form associated with hypogammaglobulinemia ( OPTB7 ) is caused by mutation [mendelian.co]

Autosomal Recessive Osteopetrosis Type 7

Osteopetrosis is currently known to be caused by mutations in the following genes: CLCN7, LRP5, TCIRG1, TNFSF11, CA2, OSTM1, PLEKHM1, SNX10 and TNFRSF11A. [preventiongenetics.com]

[…] by mutations in the CLCN7 gene, which play important bone resorption roles.9,10 The study’s aim was to detect the disease-causing gene for a consanguineous Han Chinese family [journals.sagepub.com]

Genetics Mutations in OSTM1 can cause autosomal recessive osteopetrosis type 5, which is infantile osteopetrosis with severe central nervous system defects (Pangrazio et al [preventiongenetics.com]

Hunter-MacDonald Syndrome

Another form of autosomal recessive osteopetrosis (OPTB8; 615085) is caused by mutation in the SNX10 gene (614780) on chromosome 7p15. [0-www-ncbi-nlm-nih-gov.brum.beds.ac.uk]

[…] in the TNFRSF11A gene (603499) on chromosome 18q22. [0-www-ncbi-nlm-nih-gov.brum.beds.ac.uk]

A form of autosomal recessive osteopetrosis associated with renal tubular acidosis (OPTB3; 259730) is caused by mutation in the CA2 gene (611492) on chromosome 8q21. [0-www-ncbi-nlm-nih-gov.brum.beds.ac.uk]

Cystitis

Another form of autosomal recessive osteopetrosis (OPTB8; 615085) is caused by mutation in the SNX10 gene (614780) on chromosome 7p15. [ncbi.nlm.nih.gov]

[…] in the TNFRSF11A gene (603499) on chromosome 18q22. [ncbi.nlm.nih.gov]

A form of autosomal recessive osteopetrosis associated with renal tubular acidosis (OPTB3; 259730) is caused by mutation in the CA2 gene (611492) on chromosome 8q21. [ncbi.nlm.nih.gov]

Coxa Vara

Another form of autosomal recessive osteopetrosis (OPTB8; 615085) is caused by mutation in the SNX10 gene (614780) on chromosome 7p15. [ncbi.nlm.nih.gov]

[…] in the TNFRSF11A gene (603499) on chromosome 18q22. [ncbi.nlm.nih.gov]

A form of autosomal recessive osteopetrosis associated with renal tubular acidosis (OPTB3; 259730) is caused by mutation in the CA2 gene (611492) on chromosome 8q21. [ncbi.nlm.nih.gov]

Cystocele

Another form of autosomal recessive osteopetrosis (OPTB8; 615085) is caused by mutation in the SNX10 gene (614780) on chromosome 7p15. [ncbi.nlm.nih.gov]

[…] in the TNFRSF11A gene (603499) on chromosome 18q22. [ncbi.nlm.nih.gov]

A form of autosomal recessive osteopetrosis associated with renal tubular acidosis (OPTB3; 259730) is caused by mutation in the CA2 gene (611492) on chromosome 8q21. [ncbi.nlm.nih.gov]

Autosomal Dominant Osteopetrosis Type 2

In this study, an affected girl with osteopetrosis was introduced who had no mutation in most common causative genes (TCIRG1, CLCN7 and OSTM1) for the disease, but analysis [medical-dictionary.thefreedictionary.com]

TCIRG1 mutations account for approximately 50% of cases in young children, ClCN7 mutations 15% of cases, and each of SNX10, OSTM1, TNFRSF11A and TNFSF11 accounts for 2-4% [osteopetrosis-support-trust.org.uk]

[…] of SNX10 gene was able to detect a novel homozygous deletion in her. [medical-dictionary.thefreedictionary.com]

Autosomal-Recessive Nonsyndromic Hearing Loss and Deafness DFNB61

The frequency of deafness is higher in WS2 than in WS1. [ read more ] 12444107 SNX10 causing OPTB8 615085 The disease is caused by mutations affecting the gene represented [nectarmutation.org]

Renal Tubular Acidosis

Gamze Koçak, Banu Nur Güzel, Ercan Mıhçı, Osman Alphan Küpesiz, Koray Yalçın and Ayşe Esra Manguoğlu, TCIRG1 and SNX10 gene mutations in the patients with autosomal recessive [doi.org]

Diastrophic Dysplasia

About this article Publication history Accepted 04 September 1992 Issue Date 01 November 1992 DOI https://doi.org/10.1038/ng1192-204 Further reading SNX10 gene mutation leading [nature.com]

Autosomal Recessive Osteopetrosis Type 3

Osteopetrosis is currently known to be caused by mutations in the following genes: CLCN7, LRP5, TCIRG1, TNFSF11, CA2, OSTM1, PLEKHM1, SNX10 and TNFRSF11A. [preventiongenetics.com]

Genetics Mutations in OSTM1 can cause autosomal recessive osteopetrosis type 5, which is infantile osteopetrosis with severe central nervous system defects (Pangrazio et al [preventiongenetics.com]

Autosomal Dominant Osteopetrosis Type 1

[…] causing OPTB8 615085 The disease is caused by mutations affecting the gene represented in this entry. [nectarmutation.org]

Familial Joint Laxity

Known Familial Mutations, Osteogenesis Imperfecta Collagen Diagnostic Lab 81479 or 81403 Recessive OI Panel + ALPL 13 gene panel Osteogenesis Imperfecta ALPL, BMP1, CREB3L1 [uwcpdx.org]

[…] panel Osteopetrosis AMER1, CA2, CLCN7, CTSK, FAM20C, FERMT3, LEMD3, LRP5, OSTM1, PLEKHM1, SNX10, TCIRG1, TNFRSF11A, TNFSF11 Collagen Diagnostic Lab 81479 Prenatal Testing [uwcpdx.org]

PLOD2, PLOD3, PLS3, PPIB, SEC24D, SERPINF1, SERPINH1, SP7/OSX, SPARC, TAPT1, TMEM38B, TNFRSF11B, WNT1, XYLT2 Collagen Diagnostic Lab 81408 x 2, 81479 Osteopetrosis Panel 14 gene [uwcpdx.org]