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.

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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

SOURCES: ORPHANET OMIM

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

SOURCES: ORPHANET OMIM

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

SOURCES: OMIM ORPHANET


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

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

SOST Sequence Analysis Panel

United States.

By Baylor Miraca Genetics Laboratories

This panel specifically test the SOST gene.

More info about this panel

SOST Deletion/Duplication Analysis Panel

United States.

By Baylor Miraca Genetics Laboratories

This panel specifically test the SOST gene.

More info about this panel

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

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

Sclerosteosis (sequence analysis of SOST gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the SOST 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

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

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

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

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 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 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

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

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

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

SOST Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the SOST 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

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

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

Sclerosteosis 1 Panel

Spain.

By Bioarray

This panel specifically test the SOST gene.

More info about this panel

CRANIODIAPHYSEAL DYSPLASIA (CDD) Panel

Spain.

By Laboratorio de Genetica Clinica SL

This panel specifically test the SOST gene.

More info about this panel

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

SCLEROSTEOSIS (VAN BUCHEM DISEASE) Panel

Spain.

By Laboratorio de Genetica Clinica SL

This panel specifically test the SOST gene.

More info about this panel

Sclerosteosis Type 1, Sequencing SOST Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the SOST gene.

More info about this panel

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


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