SOST gene related symptoms and diseases
All the information presented here about the SOST 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 SOST gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Optic atrophy | Very Common - Between 80% and 100% cases |
| Hyperostosis | Very Common - Between 80% and 100% cases |
| Wide nasal bridge | Common - Between 50% and 80% cases |
| Increased bone mineral density | Common - Between 50% and 80% cases |
| Headache | Common - Between 50% and 80% cases |
Other less frequent symptoms and clinical features
Patients with SOST gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Mandibular prognathia
- Hearing impairment
- Depressed nasal bridge
- Craniofacial hyperostosis
- Diaphyseal thickening
Not very common - Between 30% and 50% cases
- Abnormal cortical bone morphology
- Hypertelorism
- Elevated alkaline phosphatase
And 74 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to SOST gene
Here you will find a list of rare diseases related to the SOST. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
SCLEROSTEOSIS
Alternate names
SCLEROSTEOSIS Is also known as cortical hyperostosis-syndactyly syndrome, sost, cortical hyperostosis with syndactyly
Description
Sclerosteosis is a very rare serious sclerosing hyperostosis syndrome characterized clinically by variable syndactyly and progressive skeletal overgrowth (particularly of the skull), resulting in distinctive facial features (mandibular overgrowth, frontal bossing, midfacial hypoplasia), cranial nerve entrapment causing facial palsy and deafness, and potentially lethal elevation of intracranial pressure.
Most common symptoms of SCLEROSTEOSIS
- Hearing impairment
- Hypertelorism
- Nystagmus
- Strabismus
- Sensorineural hearing impairment
More info about SCLEROSTEOSIS
CRANIODIAPHYSEAL DYSPLASIA
Description
Craniodiaphyseal dysplasia is a rare sclerotic bone disorder with a variable phenotypic expression with massive generalized hyperostosis and sclerosis, particularly of the skull and facial bones, that may lead to severe deformity.
Most common symptoms of CRANIODIAPHYSEAL DYSPLASIA
- Intellectual disability
- Short stature
- Depressed nasal bridge
- Wide nasal bridge
- Optic atrophy
More info about CRANIODIAPHYSEAL DYSPLASIA
CRANIODIAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT; CDD
Description
Craniodiaphyseal dysplasia is a severe bone dysplasia characterized by massive generalized hyperostosis and sclerosis, especially involving the skull and facial bones. Progressive bony encroachment upon cranial foramina leads to severe neurologic impairment in childhood (summary by Brueton and Winter, 1990). The sclerosis is so severe that the resulting facial distortion is referred to as 'leontiasis ossea' (leonine facies), and the bone deposition results in progressive stenosis of craniofacial foramina (summary by Kim et al., 2011).
Most common symptoms of CRANIODIAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT; CDD
- Short stature
- Hearing impairment
- Hypertelorism
- Depressed nasal bridge
- Wide nasal bridge
More info about CRANIODIAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT; CDD
SOURCES: OMIM
HYPEROSTOSIS CORTICALIS GENERALISATA
Alternate names
HYPEROSTOSIS CORTICALIS GENERALISATA Is also known as hyperphosphatasemia tarda, hyperostosis corticalis generalisata, van buchem disease, endosteal hyperostosis, autosomal recessive
Description
Hyperostosis corticalis generalisata, also known as van Buchem disease, is a rare craniotubular hyperostosis characterized by hyperostosis of the skull, mandible, clavicles, ribs and diaphyses of the long bones, as well as the tubular bones of the hands and feet. Clinical manifestations include increased skull thickness with cranial nerve entrapment causing inconsistent cranial nerve palsies.
Most common symptoms of HYPEROSTOSIS CORTICALIS GENERALISATA
- Hearing impairment
- Sensorineural hearing impairment
- Pain
- Optic atrophy
- Blindness
More info about HYPEROSTOSIS CORTICALIS GENERALISATA
Search interest in SOST
Potential gene panels for SOST 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.
SOST Sequence Analysis (Prenatal Diagnosis) Panel
United States.
By Baylor Miraca Genetics Laboratories
This panel specifically test the SOST gene.
More info about this panel United States.
SOST Sequence Analysis Panel
United States.
By Baylor Miraca Genetics Laboratories
This panel specifically test the SOST gene.
More info about this panel United States.
SOST Deletion/Duplication Analysis Panel
United States.
By Baylor Miraca Genetics Laboratories
This panel specifically test the SOST gene.
More info about this panel United States.
SOST Comprehensive - Sequence & Deletion/Duplication Analysis Panel
United States.
By Baylor Miraca Genetics Laboratories
This panel specifically test the SOST gene.
More info about this panel United States.
SOST. Complete sequencing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the SOST gene.
More info about this panel Spain.
Sclerosteosis (sequence analysis of SOST gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the SOST gene.
More info about this panel Portugal.
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.
Dense bone dysplasia NGS panel Panel
United States.
By Connective Tissue Gene Tests Dense bone dysplasia NGS panel that also includes the following genes: SLCO2A1 TBXAS1 TGFB1 TNFRSF11B TYROBP SOST ANKH DLX3 GJA1 HPGD
More info about this panel United States.
Dense bone dysplasia Comprehensive panel Panel
United States.
By Connective Tissue Gene Tests Dense bone dysplasia Comprehensive panel that also includes the following genes: SLCO2A1 TBXAS1 TGFB1 TNFRSF11B TYROBP SOST ANKH DLX3 GJA1 HPGD
More info about this panel United States.
Dense bone dysplasia Deletion / Duplication panel Panel
United States.
By Connective Tissue Gene Tests Dense bone dysplasia Deletion / Duplication panel that also includes the following genes: SLCO2A1 TBXAS1 TGFB1 TNFRSF11B TYROBP SOST ANKH DLX3 GJA1 HPGD
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 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 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.
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.
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.
SOST Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the SOST 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.
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.
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.
Sclerosteosis 1 Panel
Spain.
By Bioarray
This panel specifically test the SOST gene.
More info about this panel Spain.
CRANIODIAPHYSEAL DYSPLASIA (CDD) Panel
Spain.
By Laboratorio de Genetica Clinica SL
This panel specifically test the SOST gene.
More info about this panel Spain.
HYPEROSTOSIS CORTICALIS GENERALISATA (VAN BUCHEM DISEASE) Panel
Spain.
By Laboratorio de Genetica Clinica SL HYPEROSTOSIS CORTICALIS GENERALISATA (VAN BUCHEM DISEASE) that also includes the following genes: SOST LRP5
More info about this panel Spain.
SCLEROSTEOSIS (VAN BUCHEM DISEASE) Panel
Spain.
By Laboratorio de Genetica Clinica SL
This panel specifically test the SOST gene.
More info about this panel Spain.
Sclerosteosis Type 1, Sequencing SOST Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the SOST gene.
More info about this panel Spain.
SOST-Related Sclerosing Bone Dysplasias: gene sequencing Panel
Canada.
By CEN4GEN Institute for Genomics and Molecular Diagnostics
This panel specifically test the SOST gene.
More info about this panel Canada.
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