SNRPE gene related symptoms and diseases
All the information presented here about the SNRPE gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,HGNC,ORPHANET,NCBIGENE, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to SNRPE gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Alopecia | Very Common - Between 80% and 100% cases |
| Hypotrichosis | Very Common - Between 80% and 100% cases |
| Sparse eyelashes | Very Common - Between 80% and 100% cases |
| Hyperhidrosis | Uncommon - Between 30% and 50% cases |
| Sparse hair | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with SNRPE gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Sparse and thin eyebrow
- Sparse eyebrow
- Sparse body hair
- Sparse axillary hair
- Sparse pubic hair
- Hypotrichosis of the scalp
- Aplasia/Hypoplasia of the eyebrow
- Alopecia of scalp
And 2 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to SNRPE gene
Here you will find a list of rare diseases related to the SNRPE. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
HYPOTRICHOSIS SIMPLEX
Alternate names
HYPOTRICHOSIS SIMPLEX Is also known as hhs, hereditary hypotrichosis simplex, hts, hypotrichosis simplex, generalized, hereditary
Description
Hypotrichosis simplex (HS) or hereditary hypotrichosis simplex (HHS) is characterized by reduced pilosity over the scalp and body (with sparse, thin, and short hair) in the absence of other anomalies.
Most common symptoms of HYPOTRICHOSIS SIMPLEX
- Alopecia
- Hyperhidrosis
- Sparse hair
- Hypotrichosis
- Sparse and thin eyebrow
More info about HYPOTRICHOSIS SIMPLEX
HYPOTRICHOSIS 11; HYPT11
Most common symptoms of HYPOTRICHOSIS 11; HYPT11
- Alopecia
- Hypotrichosis
- Sparse eyelashes
- Aplasia/Hypoplasia of the eyebrow
- Alopecia of scalp
More info about HYPOTRICHOSIS 11; HYPT11
SOURCES: OMIM
Search interest in SNRPE
Potential gene panels for SNRPE gene
Hypotrichosis (NGS panel of 10 genes) Panel
Portugal.
By CGC Genetics Hypotrichosis (NGS panel of 10 genes) that also includes the following genes: RPL21 SNRPE LPAR6 APCDD1 CDSN LIPH DSG4 KRT71 KRT74 HR
More info about this panel Portugal.
Hypotrichosis (NGS panel of 10 genes) Panel
Portugal.
By CGC Genetics Hypotrichosis (NGS panel of 10 genes) that also includes the following genes: RPL21 SNRPE LPAR6 APCDD1 CDSN LIPH DSG4 KRT71 KRT74 HR
More info about this panel Portugal.
Hypotrichosis Comprehensive panel Panel
United States.
By Connective Tissue Gene Tests Hypotrichosis Comprehensive panel that also includes the following genes: RPL21 SNRPE LPAR6 APCDD1 CDSN LIPH DSG4 KRT71 KRT74 HR
More info about this panel United States.
Hypotrichosis NGS panel Panel
United States.
By Connective Tissue Gene Tests Hypotrichosis NGS panel that also includes the following genes: RPL21 SNRPE LPAR6 APCDD1 CDSN LIPH DSG4 KRT71 KRT74 HR
More info about this panel United States.
Hypotrichosis Deletion / Duplication panel Panel
United States.
By Connective Tissue Gene Tests Hypotrichosis Deletion / Duplication panel that also includes the following genes: RPL21 SNRPE LPAR6 APCDD1 CDSN LIPH DSG4 KRT71 KRT74 HR
More info about this panel United States.
Hypotrichosis type 11 Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the SNRPE gene.
More info about this panel Germany.
Nonsyndromic hypotrichosis panel Panel
Germany.
By Centogene AG - the Rare Disease Company Nonsyndromic hypotrichosis panel that also includes the following genes: RPL21 SNRPE LPAR6 APCDD1 CDSN LIPH DSG4 KRT71 KRT74 HR
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.
SNRPE Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the SNRPE gene.
More info about this panel United States.
HYPOTRICHOSIS SIMPLEX Panel
Spain.
By Laboratorio de Genetica Clinica SL HYPOTRICHOSIS SIMPLEX that also includes the following genes: RPL21 SNRPE LPAR6 APCDD1 LIPH DSG4 KRT71 KRT74 KRT25
More info about this panel Spain.
Woolly hair/Hypothricosis Simplex: NGS Panel Panel
Spain.
By Laboratorio de Genetica Clinica SL Woolly hair/Hypothricosis Simplex: NGS Panel that also includes the following genes: RPL21 SNRPE LPAR6 APCDD1 CDSN LIPH DSG4 KRT71 KRT74 KRT25
More info about this panel Spain.
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