SOX3 gene related symptoms and diseases
All the information presented here about the SOX3 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 SOX3 gene
Symptoms // Phenotype | % Cases |
---|---|
Intellectual disability | Common - Between 50% and 80% cases |
Short stature | Common - Between 50% and 80% cases |
Constipation | Uncommon - Between 30% and 50% cases |
Panhypopituitarism | Uncommon - Between 30% and 50% cases |
Hypopituitarism | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with SOX3 gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Growth hormone deficiency
- Delayed puberty
- Decreased testicular size
- Anterior pituitary hypoplasia
- Spina bifida
- Global developmental delay
- Fatigue
Rarely - Less than 30% cases
- Nystagmus
And 76 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to SOX3 gene
Here you will find a list of rare diseases related to the SOX3. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
SEPTO-OPTIC DYSPLASIA SPECTRUM
Alternate names
SEPTO-OPTIC DYSPLASIA SPECTRUM Is also known as sod, septo-optic dysplasia, de morsier syndrome
Description
Septooptic dysplasia (SOD) is a clinically heterogeneous disorder characterized by the classical triad of optic nerve hypoplasia, pituitary hormone abnormalities and midline brain defects.
Most common symptoms of SEPTO-OPTIC DYSPLASIA SPECTRUM
- Intellectual disability
- Seizures
- Global developmental delay
- Short stature
- Nystagmus
More info about SEPTO-OPTIC DYSPLASIA SPECTRUM
SOURCES: ORPHANET
46,XX TESTICULAR DISORDER OF SEX DEVELOPMENT
Alternate names
46,XX TESTICULAR DISORDER OF SEX DEVELOPMENT Is also known as de la chapelle syndrome, 46,xx testicular dsd, xx, male syndrome
Description
46,XX testicular disorder of sex development (46,XX testicular DSD) is characterized by male external genitalia, ranging from normal to ambiguous with associated testosterone deficiency.
Most common symptoms of 46,XX TESTICULAR DISORDER OF SEX DEVELOPMENT
- Decreased testicular size
- Ambiguous genitalia
- Polycystic ovaries
- Male hypogonadism
More info about 46,XX TESTICULAR DISORDER OF SEX DEVELOPMENT
SOURCES: ORPHANET
X-LINKED CONGENITAL GENERALIZED HYPERTRICHOSIS
Alternate names
X-LINKED CONGENITAL GENERALIZED HYPERTRICHOSIS Is also known as chromosome xq27.1 interchromosomal insertion syndrome, hcg, congenital generalized hypertrichosis, macias-flores type, cgh, macias flores-garcia cruz-rivera syndrome
Description
X-linked congenital generalized hypertrichosis is an extremely rare type of hypertrichosis lanuginosa congenita, a congenital skin disease, which is characterized by hair overgrowth on the entire body in males, and mild and asymmetric hair overgrowth in females. It is associated with a mild facial dysmorphism (anterverted nostrils, moderate prognathism), and, in a kindred, it was also associated with dental anomalies and deafness.
Most common symptoms of X-LINKED CONGENITAL GENERALIZED HYPERTRICHOSIS
- Hearing impairment
- Scoliosis
- Abnormality of the dentition
- Skeletal dysplasia
- Hirsutism
More info about X-LINKED CONGENITAL GENERALIZED HYPERTRICHOSIS
PANHYPOPITUITARISM
Alternate names
PANHYPOPITUITARISM Is also known as pituitary dwarfism iv, formerly
Description
Insufficient production of all the anterior pituitary hormones.
Most common symptoms of PANHYPOPITUITARISM
- Intellectual disability
- Short stature
- Growth delay
- Fatigue
- Delayed skeletal maturation
More info about PANHYPOPITUITARISM
X-LINKED INTELLECTUAL DISABILITY WITH ISOLATED GROWTH HORMONE DEFICIENCY
Alternate names
X-LINKED INTELLECTUAL DISABILITY WITH ISOLATED GROWTH HORMONE DEFICIENCY Is also known as mrgh
Most common symptoms of X-LINKED INTELLECTUAL DISABILITY WITH ISOLATED GROWTH HORMONE DEFICIENCY
- Intellectual disability
- Global developmental delay
- Short stature
- Hypertelorism
- High palate
More info about X-LINKED INTELLECTUAL DISABILITY WITH ISOLATED GROWTH HORMONE DEFICIENCY
Search interest in SOX3
Potential gene panels for SOX3 gene
NGS XLID Panel Panel
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center NGS XLID Panel that also includes the following genes: RPL10 RPS6KA3 SLC16A2 SLC9A6 SMC1A KDM5C SMS SOX3 CDKL5 SYN1
More info about this panelX-Linked Intellectual Disabilities Deletion/Duplication Panel
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University X-Linked Intellectual Disabilities Deletion/Duplication that also includes the following genes: RPL10 RPS6KA3 SLC16A2 SLC9A6 SMC1A KDM5C SMS SOX3 CDKL5 SYN1
More info about this panelX-linked Intellectual Disabilities Sequencing Panel
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University X-linked Intellectual Disabilities Sequencing that also includes the following genes: RPL10 RPS6KA3 SLC16A2 SLC9A6 SMC1A KDM5C SMS SOX3 CDKL5 SYN1
More info about this panelX-Linked Intellectual Disabilities Sequencing and Deletion/Duplication Panel
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University X-Linked Intellectual Disabilities Sequencing and Deletion/Duplication that also includes the following genes: RPL10 RPS6KA3 SLC16A2 SLC9A6 SMC1A KDM5C SMS SOX3 CDKL5 SYN1
More info about this panelSOX3. Complete sequencing Secuenciación completa Panel
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the SOX3 gene.
More info about this panelPanhypopituitarism, X-linked (sequence analysis of SOX3 gene) Panel
By CGC Genetics
This panel specifically test the SOX3 gene.
More info about this panelMental retardation, X-linked (NGS panel for 89 genes) Panel
By CGC Genetics Mental retardation, X-linked (NGS panel for 89 genes) that also includes the following genes: RPS6KA3 SLC16A2 SLC6A8 SLC9A6 SMC1A KDM5C SMS SOX3 CDKL5 SYN1
More info about this panelCongenital hypopituitarism (NGS panel for 7 genes) Panel
By CGC Genetics Congenital hypopituitarism (NGS panel for 7 genes) that also includes the following genes: SOX3 LHX4 HESX1 LHX3 OTX2 POU1F1 PROP1
More info about this panelSeptooptic dysplasia (NGS panel for 17 genes) Panel
By CGC Genetics Septooptic dysplasia (NGS panel for 17 genes) that also includes the following genes: SLC12A6 SOX2 SOX3 LHX4 EPG5 TAX1BP3 FGF8 FGFR2 GH1 GLI2
More info about this panelSeptooptic dysplasia (NGS panel for 17 genes) Panel
By CGC Genetics Septooptic dysplasia (NGS panel for 17 genes) that also includes the following genes: SLC12A6 SOX2 SOX3 LHX4 EPG5 TAX1BP3 FGF8 FGFR2 GH1 GLI2
More info about this panelCongenital hypopituitarism (NGS panel for 7 genes) Panel
By CGC Genetics Congenital hypopituitarism (NGS panel for 7 genes) that also includes the following genes: SOX3 LHX4 HESX1 LHX3 OTX2 POU1F1 PROP1
More info about this panelHypoparathyroidism Sequencing Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics Hypoparathyroidism Sequencing Panel with CNV Detection that also includes the following genes: SOX3 STX16 TBCE CASR FAM111A AIRE GATA3 GCM2 GNA11 GNAS
More info about this panelX-Linked Intellectual Disability Sequencing Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics X-Linked Intellectual Disability Sequencing Panel with CNV Detection that also includes the following genes: RPL10 RPS6KA3 SLC16A2 SLC35A2 SLC6A8 SLC7A3 SLC9A6 SMC1A KDM5C SMS
More info about this panelCombined Pituitary Hormone Deficiency (CPHD) Sequencing Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics Combined Pituitary Hormone Deficiency (CPHD) Sequencing Panel with CNV Detection that also includes the following genes: SOX2 SOX3 LHX4 GLI2 HESX1 LHX3 OTX2 POU1F1 PROP1
More info about this panelHypogonadotropic Hypogonadism/Kallmann Sequencing Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics Hypogonadotropic Hypogonadism/Kallmann Sequencing Panel with CNV Detection that also includes the following genes: SEMA3A SEMA3E SOX10 SOX2 SOX3 TAC3 TACR3 WDR11 SPRY4 PROKR2
More info about this panelX-Linked Hypoparathyroidism via the Interstitial Deletion-Insertion Involving Chromosomes 2p25.3 and Xq27.1, Near SOX3 Panel
By PreventionGenetics PreventionGenetics
This panel specifically test the SOX3 gene.
More info about this panelFemale Infertility Sequencing Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics Female Infertility Sequencing Panel with CNV Detection that also includes the following genes: BMP15 SEMA3A SEMA3E FOXL2 SOX10 SOX2 SOX3 SOX9 SRA1 SRD5A2
More info about this panelMale Infertility Sequencing Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics Male Infertility Sequencing Panel with CNV Detection that also includes the following genes: SEMA3A SEMA3E FOXL2 BRDT SOX10 SOX2 SOX3 SOX9 SRA1 SRD5A2
More info about this panelDisorders of Sex Development (DSD) and Infertility Sequencing Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics Disorders of Sex Development (DSD) and Infertility Sequencing Panel with CNV Detection that also includes the following genes: ROR2 SALL1 BMP15 BMP4 SEMA3A SEMA3E BMP7 FOXL2 BRDT SOS1
More info about this panelDisorders of Sex Development (DSD) Sequencing Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics Disorders of Sex Development (DSD) Sequencing Panel with CNV Detection that also includes the following genes: ROR2 SALL1 BMP15 BMP4 SEMA3A BMP7 FOXL2 SOS1 SOX10 SOX2
More info about this panelAmbiguous Genitalia Sequencing Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics Ambiguous Genitalia Sequencing Panel with CNV Detection that also includes the following genes: ROR2 SALL1 BMP4 SEMA3A SOS1 SOX10 SOX2 SOX3 SOX9 SRD5A2
More info about this panelShort stature with endocrinopathy NGS panel Panel
By Connective Tissue Gene Tests Short stature with endocrinopathy NGS panel that also includes the following genes: SOX3 BTK LHX4 GH1 GHR GHRHR GHSR HESX1 IGF1 IGF1R
More info about this panelShort stature with endocrinopathy Deletion / Duplication panel Panel
By Connective Tissue Gene Tests Short stature with endocrinopathy Deletion / Duplication panel that also includes the following genes: SOX3 BTK LHX4 GH1 GHR GHRHR GHSR HESX1 IGF1 IGF1R
More info about this panelShort stature with endocrinopathy Comprehensive panel Panel
By Connective Tissue Gene Tests Short stature with endocrinopathy Comprehensive panel that also includes the following genes: SOX3 BTK LHX4 GH1 GHR GHRHR GHSR HESX1 IGF1 IGF1R
More info about this panelMental retardation - different panels Panel
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 panelMental Retardation and Dysmorphology - panels Panel
By MGZ Medical Genetics Center Mental Retardation and Dysmorphology - panels that also includes the following genes: RIT1 ROR2 RPL10 RPS6KA3 RRAS SALL1 SF3B4 SGSH ST3GAL3 SLC16A2
More info about this panelSyndromal Diseases - panels Panel
By MGZ Medical Genetics Center Syndromal Diseases - panels that also includes the following genes: RIT1 ROR2 RPL10 RPS6KA3 RRAS SALL1 SF3B4 SGSH ST3GAL3 SLC16A2
More info about this panelX-Linked Mental Retardation Panel
By MGZ Medical Genetics Center X-Linked Mental Retardation that also includes the following genes: RPL10 RPS6KA3 SLC12A6 SLC16A2 SLC6A8 SLC9A6 SMC1A KDM5C SMS SOX3
More info about this panelBrain Malformations / Neuronal Migration Disorders Panel
By MGZ Medical Genetics Center Brain Malformations / Neuronal Migration Disorders that also includes the following genes: RPL10 RPS6KA3 SCN1A SCN1B SCN2A SCN8A SGCE SGSH STIL SLC16A2
More info about this panel46XX sex reversal 1 Panel
By Centogene AG - the Rare Disease Company
This panel specifically test the SOX3 gene.
More info about this panelPanhypopituitarism, X-linked Panel
By Centogene AG - the Rare Disease Company
This panel specifically test the SOX3 gene.
More info about this panelAllNeuro panel Panel
By Centogene AG - the Rare Disease Company AllNeuro panel that also includes the following genes: BCS1L ROR2 RPL10 BDNF RPS6KA3 RTN2 RYR1 SACS BIN1 SBF1
More info about this panelMental retardation, X-linked, with isolated growth hormone deficiency Panel
By Centogene AG - the Rare Disease Company
This panel specifically test the SOX3 gene.
More info about this panelSepto-optical dysplasia Panel Panel
By CeGaT GmbH Septo-optical dysplasia Panel that also includes the following genes: SOX2 SOX3 PROKR2 TAX1BP3 FGFR2 HESX1 OTX2
More info about this panelSingle gene testing SOX3 Panel
By CeGaT GmbH
This panel specifically test the SOX3 gene.
More info about this panelDevelopmental Eye Disease panel Panel
By Molecular Vision Laboratory Developmental Eye Disease panel that also includes the following genes: BMP4 SHH SIX3 SIX6 SLC25A1 SNX3 SOX2 SOX3 ELP4 VAX1
More info about this panelqChip Panel
By Quantitative Genomic Medicine Laboratories, SL qChip that also includes the following genes: RS1 RUNX2 SALL1 SCN1A BMPR1A SH2D1A SEM1 SHH SHOX SIM1
More info about this panelqGenEx Sex development disorders Panel
By Quantitative Genomic Medicine Laboratories, SL qGenEx Sex development disorders that also includes the following genes: ROR2 SOX3 SOX9 SRD5A2 SRY STAR CEP41 TSPYL1 WNT4 WT1
More info about this panelMorsier syndrome: SOX3 gene sequence analysis Panel
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the SOX3 gene.
More info about this panelSeptooptic dysplasia Panel
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Septooptic dysplasia that also includes the following genes: SOX2 SOX3 LHX4 FGF8 GLI2 HESX1 LHX3 OTX2 PAX6
More info about this panelXLMR with Growth Hormone Deficiency: SOX3 Full Gene Sequencing Panel
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics
This panel specifically test the SOX3 gene.
More info about this panelXLMR with Growth Hormone Deficiency: SOX3 Gene Deletion/Duplication Panel
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics
This panel specifically test the SOX3 gene.
More info about this panelProportionate Short Stature/Small for Gestational Age: Sequencing and Deletion/Duplication Panel Panel
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Proportionate Short Stature/Small for Gestational Age: Sequencing and Deletion/Duplication Panel that also includes the following genes: ROR2 RPS6KA3 BLM SHOX SHOX2 SMARCAL1 SMC1A SOS1 SOX2 SOX3
More info about this panelX-linked Intellectual Disability: Gene Sequencing and Deletion/Duplication Panel Panel
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics X-linked Intellectual Disability: Gene Sequencing and Deletion/Duplication Panel that also includes the following genes: RPL10 RPS6KA3 SLC16A2 SLC9A6 SMC1A KDM5C SMS SOX3 CDKL5 SYN1
More info about this panelIntellectual Disability NGS Panel Panel
By Fulgent Genetics Fulgent Genetics Intellectual Disability NGS Panel that also includes the following genes: BCS1L RPS6KA3 SACS BIN1 SCN1A SCN8A SDCCAG8 SGCA SGSH ST3GAL3
More info about this panelXLID NGS Panel Panel
By Fulgent Genetics Fulgent Genetics XLID NGS Panel that also includes the following genes: RPL10 RPS6KA3 SLC16A2 SLC9A6 SMC1A KDM5C SMS SOX3 CDKL5 SYN1
More info about this panelSOX3 Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the SOX3 gene.
More info about this panelX-chromosome High Resolution microarray analysis Panel
By Pittsburgh Cytogenetics Laboratory University of Pittsburgh Medical Center X-chromosome High Resolution microarray analysis that also includes the following genes: RP2 RPGR RPL10 RPS6KA3 RS1 SAT1 SH2D1A SHOX SLC16A2 SLC35A2
More info about this panelComprehensive Short Stature Syndrome Panel Panel
By Blueprint Genetics Comprehensive Short Stature Syndrome Panel that also includes the following genes: RIT1 BCS1L RRAS SHOX BRAF SMC1A SOS1 SOX2 SOX3 STAT5B
More info about this panelX-linked Intellectual Disability Panel Panel
By Blueprint Genetics X-linked Intellectual Disability Panel that also includes the following genes: RPL10 RPS6KA3 SLC16A2 SLC6A8 SLC9A6 SMC1A KDM5C SMS SOX3 CDKL5
More info about this panelComprehensive Growth Disorders / Skeletal Dysplasias and Disorders Panel Panel
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 panelMental retardation with panhypopituitarism, X-linked Panel
By Bioarray
This panel specifically test the SOX3 gene.
More info about this panelRapid microarray (CGH and SNP) Panel
By Allele Diagnostics Allele Diagnostics Rapid microarray (CGH and SNP) that also includes the following genes: RPS19 RUNX2 SALL1 SCN1A SCN2A SDHB SDHD BMPR1A SGCE SH2D1A
More info about this panelHigh-Resolution Rapid Microarray (CGH and SNP) Panel
By Allele Diagnostics Allele Diagnostics High-Resolution Rapid Microarray (CGH and SNP) that also includes the following genes: RPS19 RUNX2 SALL1 SCN1A SCN2A SDHB SDHD BMPR1A SGCE SH2D1A
More info about this panelINFANTILE NEUROAXONAL DYSTROPHY (INFANTILE NEUROAXONAL DYSTROPHY) Panel
By Laboratorio de Genetica Clinica SL INFANTILE NEUROAXONAL DYSTROPHY (INFANTILE NEUROAXONAL DYSTROPHY) that also includes the following genes: SOX3 PLA2G6
More info about this panelX-Linked Mental Retardation with Isolated Growth Hormone Deficiency , Sequencing SOX3 Gene Panel
By Reference Laboratory Genetics
This panel specifically test the SOX3 gene.
More info about this panelSepto-Optic Dysplasia , Panel Massive Sequencing (NGS) 9 Genes Panel
By Reference Laboratory Genetics Septo-Optic Dysplasia , Panel Massive Sequencing (NGS) 9 Genes that also includes the following genes: SOX2 SOX3 LHX4 FGF8 GLI2 HESX1 LHX3 OTX2 PAX6
More info about this panelTempus xO assay Panel
By Tempus Labs, Inc. Tempus xO assay that also includes the following genes: BCL6 RHEB RIPK1 RIPK2 RIPK3 RIT1 BCL7A BCL9 BCR ROBO2
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