RSPO1 gene related symptoms and diseases
All the information presented here about the RSPO1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,OMIM,HGNC,NCBIGENE, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to RSPO1 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Hearing impairment | Very Common - Between 80% and 100% cases |
| Palmoplantar hyperkeratosis | Very Common - Between 80% and 100% cases |
| Orthokeratotic hyperkeratosis | Very Common - Between 80% and 100% cases |
| Premature loss of permanent teeth | Very Common - Between 80% and 100% cases |
| Sclerodactyly | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with RSPO1 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Palmoplantar hyperhidrosis
- Ovotestis
- Squamous cell carcinoma of the skin
- Sex reversal
- Squamous cell carcinoma
- Clitoral hypertrophy
- Premature ovarian insufficiency
- Hypercholesterolemia
And 13 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to RSPO1 gene
Here you will find a list of rare diseases related to the RSPO1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
PALMOPLANTAR KERATODERMA-XX SEX REVERSAL-PREDISPOSITION TO SQUAMOUS CELL CARCINOMA SYNDROME
Alternate names
PALMOPLANTAR KERATODERMA-XX SEX REVERSAL-PREDISPOSITION TO SQUAMOUS CELL CARCINOMA SYNDROME Is also known as palmoplantar hyperkeratosis-xx sex reversal-predisposition to squamous cell carcinoma syndrome
Description
Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome is characterised by sex reversal in males with a 46, XX (SRY-negative) karyotype, palmoplantar hyperkeratosis and a predisposition to squamous cell carcinoma. To date, five cases (four of whom were brothers) have been described. The aetiology is unknown.
Most common symptoms of PALMOPLANTAR KERATODERMA-XX SEX REVERSAL-PREDISPOSITION TO SQUAMOUS CELL CARCINOMA SYNDROME
- Hearing impairment
- Strabismus
- Hypospadias
- Hyperkeratosis
- Carcinoma
More info about PALMOPLANTAR KERATODERMA-XX SEX REVERSAL-PREDISPOSITION TO SQUAMOUS CELL CARCINOMA SYNDROME
Search interest in RSPO1
Potential gene panels for RSPO1 gene
Abnormal/Ambiguous Genitalia Sequencing Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Abnormal/Ambiguous Genitalia Sequencing Panel that also includes the following genes: ROR2 SALL1 BMP4 SEMA3A SOX9 SRD5A2 SRY STAR TBX15 CEP41
More info about this panel United States.
46,XX Disorders of Sex Development/Complete Gonadal Dysgenesis Sequencing Panel Panel
United States.
By Genetic Services Laboratory University of Chicago 46,XX Disorders of Sex Development/Complete Gonadal Dysgenesis Sequencing Panel that also includes the following genes: WNT4 WT1 PSMC3IP B3GLCT RSPO1 CYP11B1 CYP19A1 HCCS
More info about this panel United States.
46,XX Disorders of Sex Development/Complete Gonadal Dysgenesis Deletion/Duplication Panel Panel
United States.
By Genetic Services Laboratory University of Chicago 46,XX Disorders of Sex Development/Complete Gonadal Dysgenesis Deletion/Duplication Panel that also includes the following genes: WNT4 WT1 PSMC3IP B3GLCT RSPO1 CYP11B1 CYP19A1 HCCS NR5A1
More info about this panel United States.
RSPO1 Panel
Germany.
By Institute for Human Genetics University Clinic Freiburg
This panel specifically test the RSPO1 gene.
More info about this panel Germany.
Female Infertility Sequencing Panel with CNV Detection Panel
United States.
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 panel United States.
Male Infertility Sequencing Panel with CNV Detection Panel
United States.
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 panel United States.
Disorders of Sex Development (DSD) and Infertility Sequencing Panel with CNV Detection Panel
United States.
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 panel United States.
Disorders of Sex Development (DSD) Sequencing Panel with CNV Detection Panel
United States.
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 panel United States.
Ambiguous Genitalia Sequencing Panel with CNV Detection Panel
United States.
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 panel United States.
qGenEx Sex development disorders Panel
Spain.
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 panel Spain.
RSPO1 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the RSPO1 gene.
More info about this panel United States.
Abnormal Genitalia/ Disorders of Sex Development Panel Panel
Finland.
By Blueprint Genetics Abnormal Genitalia/ Disorders of Sex Development Panel that also includes the following genes: SOX9 SRD5A2 SRY STAR TACR3 CEP41 WT1 PROKR2 ZFPM2 FIG4
More info about this panel Finland.
CEN4GEN Comprehensive Hereditary Cancer Syndrome: Gene sequencing Panel Panel
Canada.
By CEN4GEN Institute for Genomics and Molecular Diagnostics CEN4GEN Comprehensive Hereditary Cancer Syndrome: Gene sequencing Panel that also includes the following genes: RNASEL RUNX1 BLM SDHA SDHB SDHC SDHD BMPR1A BRCA1 BRCA2
More info about this panel Canada.
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