SOX18 gene related symptoms and diseases
All the information presented here about the SOX18 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,HGNC,NCBIGENE,OMIM, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to SOX18 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Palpebral edema | Very Common - Between 80% and 100% cases |
| Sparse hair | Very Common - Between 80% and 100% cases |
| Hydrocele testis | Very Common - Between 80% and 100% cases |
| Absent eyelashes | Very Common - Between 80% and 100% cases |
| Absent eyebrow | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with SOX18 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Hydrops fetalis
- Lymphedema
- Telangiectasia
- Hypotrichosis
- Nonimmune hydrops fetalis
- Hypertension
- Alopecia
Not very common - Between 30% and 50% cases
- Cutis marmorata
And 50 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to SOX18 gene
Here you will find a list of rare diseases related to the SOX18. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA-RENAL DEFECT SYNDROME; HLTRS
Alternate names
HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA-RENAL DEFECT SYNDROME; HLTRS Is also known as glomerulonephritis with sparse hair and telangiectases, telangiectatic membranoproliferative glomerulonephritis
Description
Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome is an autosomal dominant disorder characterized by these 4 features, which begin in early childhood and are progressive (summary by Moalem et al., 2015).
Most common symptoms of HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA-RENAL DEFECT SYNDROME; HLTRS
- Global developmental delay
- Abnormal facial shape
- Hypertension
- Epicanthus
- Wide nasal bridge
More info about HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA-RENAL DEFECT SYNDROME; HLTRS
HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA-RENAL DEFECT SYNDROME
Alternate names
HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA-RENAL DEFECT SYNDROME Is also known as hypotrichosis-lymphedema-telangiectasia-membranoproliferative glomerulonephritis syndrome
Description
Hypotrichosis - lymphedema - telangiectasia is an extremely rare syndromic lymphedema disorder characterized by early-onset hypotrichosis, childhood-onset lymphedema, and variable telangiectasia, particularly of the palms.
Most common symptoms of HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA-RENAL DEFECT SYNDROME
- Hypertension
- Respiratory distress
- Abnormality of the dentition
- Alopecia
- Hyperhidrosis
More info about HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA-RENAL DEFECT SYNDROME
Search interest in SOX18
Potential gene panels for SOX18 gene
Non-immune Hydrops Panel Panel
United States.
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center Non-immune Hydrops Panel that also includes the following genes: RIT1 RPL11 RPL35A RPL5 RPS10 RPS17 RPS19 RPS24 RPS26 SEC23B
More info about this panel United States.
NGS Vascular Disorders Panel Panel
United States.
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center NGS Vascular Disorders Panel that also includes the following genes: SOX18 TEK VEGFC GLMN KRIT1 STAMBP GJC2 ACVRL1 CCM2 CCBE1
More info about this panel United States.
SOX18 Panel
Germany.
By Institute for Human Genetics University Clinic Freiburg
This panel specifically test the SOX18 gene.
More info about this panel Germany.
Lymphedema NGS Multi-Gene Panel (36 Genes) Panel
Netherlands.
By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam Lymphedema NGS Multi-Gene Panel (36 Genes) that also includes the following genes: BRAF SOS1 SOX18 VEGFC CBL SHOC2 GJC2 TUBGCP6 CDK19 SPRED1
More info about this panel Netherlands.
Vascular Malformations NGS Multi-Gene Panel (21 Genes) Panel
Netherlands.
By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam Vascular Malformations NGS Multi-Gene Panel (21 Genes) that also includes the following genes: BMPR2 SOX18 TEK GLMN CAV1 KRIT1 ACVRL1 DOCK6 ANTXR1 CCM2
More info about this panel Netherlands.
Lymphedema Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Lymphedema Sequencing Panel with CNV Detection that also includes the following genes: SOX18 VEGFC GJC2 FAT4 PIEZO1 CCBE1 FLT4 FOXC2 GATA2 GJA1
More info about this panel United States.
Lymphedema with Hypotrichosis and Telangiectasia via SOX18 Gene Sequencing with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics
This panel specifically test the SOX18 gene.
More info about this panel United States.
Hereditary kidney disorders - different panels Panel
Germany.
By Institute of Human Genetics Uniklinik RWTH Aachen Hereditary kidney disorders - different panels that also includes the following genes: BCS1L ROBO2 CNNM2 CFB SALL1 ATXN10 SCNN1A SCNN1B SCNN1G SDCCAG8
More info about this panel Germany.
Hypotrichosis-lymphedema-telangiectasia syndrome Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the SOX18 gene.
More info about this panel Germany.
Ectodermal dysplasia (including hypotrichosis and hypoplastic hair) Panel Panel
Germany.
By CeGaT GmbH Ectodermal dysplasia (including hypotrichosis and hypoplastic hair) Panel that also includes the following genes: BCS1L SNRPE SOX18 ST14 TRPS1 IFT122 WNT10A EDARADD SHOC2 LPAR6
More info about this panel Germany.
Vascular and lymphatic disorders Panel Panel
Germany.
By CeGaT GmbH Vascular and lymphatic disorders Panel that also includes the following genes: SOX18 TREX1 SERPING1 VEGFC KRIT1 GJC2 ACVRL1 CCM2 FAT4 CCBE1
More info about this panel Germany.
Primary lymphedema and Hydrops fetalis Panel
Belgium.
By Center for Human Genetics Cliniques Universitaires Saint Luc Primary lymphedema and Hydrops fetalis that also includes the following genes: SOS1 SOX18 VEGFC GJC2 FAT4 PIEZO1 CCBE1 EPHB4 FLT4 FOXC2
More info about this panel Belgium.
LYMPHEDEMA Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases LYMPHEDEMA that also includes the following genes: SOX18 ZMPSTE24 GJC2 CCBE1 FLT4 FOXC2 GATA2 KIF11 LMNA
More info about this panel Spain.
SOX18 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the SOX18 gene.
More info about this panel United States.
Lymphatic Malformations and Related Disorders Panel Panel
Finland.
By Blueprint Genetics Lymphatic Malformations and Related Disorders Panel that also includes the following genes: SOX18 GJC2 FAT4 PIEZO1 CCBE1 FLT4 FOXC2 GATA2 KIF11 PIK3CA
More info about this panel Finland.
Vascular Malformations Panel Panel
Finland.
By Blueprint Genetics Vascular Malformations Panel that also includes the following genes: SOX18 TEK GLMN KRIT1 STAMBP ELMO2 ACVRL1 CCM2 ENG SMAD4
More info about this panel Finland.
Hypotrichosis-Lymphedema-Telangiectasia Syndrome , Sequencing SOX18 Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the SOX18 gene.
More info about this panel Spain.
Lymphedema-Lethal Restrictive Dermopathy , Panel Massive Sequencing (NGS) 7 Genes Panel
Spain.
By Reference Laboratory Genetics Lymphedema-Lethal Restrictive Dermopathy , Panel Massive Sequencing (NGS) 7 Genes that also includes the following genes: SOX18 VEGFC ZMPSTE24 FLT4 FOXC2 GATA2 KIF11
More info about this panel Spain.
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