SPINK5 gene related symptoms and diseases
All the information presented here about the SPINK5 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,ORPHANET,OMIM,HGNC, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to SPINK5 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Allergic rhinitis | Very Common - Between 80% and 100% cases |
| Increased IgE level | Very Common - Between 80% and 100% cases |
| Eczema | Very Common - Between 80% and 100% cases |
| Asthma | Very Common - Between 80% and 100% cases |
| Intellectual disability | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with SPINK5 gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Irregular hyperpigmentation
- Intracranial hemorrhage
- Scaling skin
- Psoriasiform dermatitis
- Erythroderma
- Emphysema
- Malnutrition
- Ectopic kidney
And 47 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to SPINK5 gene
Here you will find a list of rare diseases related to the SPINK5. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
NETHERTON SYNDROME
Alternate names
NETHERTON SYNDROME Is also known as erythroderma, ichthyosiform, with hypotrichosis and hyper-ige, comÈl-netherton syndrome, bamboo hair syndrome, comel-netherton syndrome, ns, netherton disease
Description
Netherton syndrome (NS) is a skin disorder characterized by congenital ichthyosiform erythroderma (CIE), a distinctive hair shaft defect (trichorrhexis invaginata; TI) and atopic manifestations.
Most common symptoms of NETHERTON SYNDROME
- Intellectual disability
- Seizures
- Global developmental delay
- Short stature
- Growth delay
More info about NETHERTON SYNDROME
IGE RESPONSIVENESS, ATOPIC; IGER
Alternate names
IGE RESPONSIVENESS, ATOPIC; IGER Is also known as immunoglobulin e, basic level of, in serum, igel, ige, level of, ige response underlying allergic asthma and rhinitis
Description
hypersensitivity reactions which occur within minutes of exposure to challenging antigen due to the release of histamine which follows the antigen-antibody reaction and causes smooth muscle contraction and increased vascular permeability.
Most common symptoms of IGE RESPONSIVENESS, ATOPIC; IGER
- Asthma
- Eczema
- Allergic rhinitis
- Increased IgE level
More info about IGE RESPONSIVENESS, ATOPIC; IGER
SOURCES: OMIM
Search interest in SPINK5
Potential gene panels for SPINK5 gene
SPINK5 Panel
Germany.
By Institute for Human Genetics University Clinic Freiburg
This panel specifically test the SPINK5 gene.
More info about this panel Germany.
SPINK5 Gene Sequencing Panel
United States.
By GeneDx
This panel specifically test the SPINK5 gene.
More info about this panel United States.
SPINK5. Complete sequencing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the SPINK5 gene.
More info about this panel Spain.
Netherton Syndrome (sequence analysis of SPINK5 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the SPINK5 gene.
More info about this panel Portugal.
Hereditary ichthyosis (NGS panel of 53 genes) Panel
Portugal.
By CGC Genetics Hereditary ichthyosis (NGS panel of 53 genes) that also includes the following genes: SLC27A4 SNAP29 ST14 STIM1 STS TGM1 TGM5 SHOC2 SPINK5 SLURP1
More info about this panel Portugal.
Hereditary ichthyosis (NGS panel of 53 genes) Panel
Portugal.
By CGC Genetics Hereditary ichthyosis (NGS panel of 53 genes) that also includes the following genes: SLC27A4 SNAP29 ST14 STIM1 STS TGM1 TGM5 SHOC2 SPINK5 SLURP1
More info about this panel Portugal.
Netherton Syndrome via SPINK5 Gene Sequencing with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics
This panel specifically test the SPINK5 gene.
More info about this panel United States.
Hyper IgE Syndrome Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Hyper IgE Syndrome Sequencing Panel with CNV Detection that also includes the following genes: STAT3 TYK2 SPINK5 DOCK8 PGM3
More info about this panel United States.
SPINK5 Gene Panel
United States.
By Immunology Diagnostics Laboratory Seattle Children's Research Institute
This panel specifically test the SPINK5 gene.
More info about this panel United States.
Netherton syndrome Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the SPINK5 gene.
More info about this panel Germany.
Ichthyoses and related disorders of cornification Panel Panel
Germany.
By CeGaT GmbH Ichthyoses and related disorders of cornification Panel that also includes the following genes: SLC27A4 SNAP29 ST14 STS TAT TGM1 TGM5 VPS33B ATP2C1 NSDHL
More info about this panel Germany.
Syndromes with immunodeficiency Panel Panel
Germany.
By CeGaT GmbH Syndromes with immunodeficiency Panel that also includes the following genes: RMRP RUNX2 BLM SMARCAL1 STAT3 TBX1 TERC TERT TINF2 TREX1
More info about this panel Germany.
Invitae Hyper IgE Syndrome Panel Panel
United States.
By Invitae Invitae Hyper IgE Syndrome Panel that also includes the following genes: STAT3 SPINK5 DOCK8 PGM3
More info about this panel United States.
Invitae Primary Immunodeficiency Panel Panel
United States.
By Invitae Invitae Primary Immunodeficiency Panel that also includes the following genes: RMRP RORC SEMA3E SH2D1A SH3BP2 SLC7A7 SMARCAL1 BTK STAT1 STAT2
More info about this panel United States.
Invitae Phagocyte Defects Panel Panel
United States.
By Invitae Invitae Phagocyte Defects Panel that also includes the following genes: TAZ WAS VPS45 SPINK5 HAX1 CEBPE SLC35C1 VPS13B FERMT3 CSF2RA
More info about this panel United States.
Invitae Syndromic Combined Immunodeficiency (CID) Panel Panel
United States.
By Invitae Invitae Syndromic Combined Immunodeficiency (CID) Panel that also includes the following genes: RMRP SEMA3E SMARCAL1 STAT3 STAT5B STIM1 TBX1 TCN2 TERC TERT
More info about this panel United States.
Netherton syndrome: SPINK5 gene (select exons) sequence analysis Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the SPINK5 gene.
More info about this panel Spain.
Netherton syndrome: SPINK5 gene (exons 1-8, 20-26) screening Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the SPINK5 gene.
More info about this panel Spain.
Hyper IgE Syndromes: Sequencing Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Hyper IgE Syndromes: Sequencing Panel that also includes the following genes: STAT3 TYK2 SPINK5 DOCK8
More info about this panel United States.
Hyper IgE Syndromes: Deletion/Duplication Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Hyper IgE Syndromes: Deletion/Duplication Panel that also includes the following genes: STAT3 TYK2 SPINK5 DOCK8
More info about this panel United States.
Hearing Loss NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Hearing Loss NGS Panel that also includes the following genes: BCS1L SIX1 SNAI2 SMPX SOX10 TBL1X TCF21 TECTA TIMM8A TJP2
More info about this panel United States.
SPINK5 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the SPINK5 gene.
More info about this panel United States.
Ichthyosis Panel Panel
Finland.
By Blueprint Genetics Ichthyosis Panel that also includes the following genes: SLC27A4 STS TGM1 ALOXE3 ABCA12 MBTPS2 SPINK5 MPLKIP CDSN SUMF1
More info about this panel Finland.
Primary Immunodeficiency Panel Panel
Finland.
By Blueprint Genetics Primary Immunodeficiency Panel that also includes the following genes: RMRP RORC CFB BLM SH2D1A SLC7A7 SMARCAL1 SMARCD2 SRP72 BTK
More info about this panel Finland.
Severe Combined Immunodeficiency Panel Panel
Finland.
By Blueprint Genetics Severe Combined Immunodeficiency Panel that also includes the following genes: RMRP BLM SH2D1A SMARCAL1 STAT1 STAT2 STAT3 STAT5B STIM1 STK4
More info about this panel Finland.
Otogenetics Hearing Loss and Deafness Multi-Gene NGS Panel Panel
United States.
By Otogenetics Otogenetics Hearing Loss and Deafness Multi-Gene NGS Panel that also includes the following genes: BCS1L SIX1 SIX5 SNAI2 SMPX SOX2 TBL1X TCF21 TECTA TFCP2
More info about this panel United States.
NETHERTON SYNDROME Panel
Spain.
By Laboratorio de Genetica Clinica SL
This panel specifically test the SPINK5 gene.
More info about this panel Spain.
Netherton Syndrome , Sequencing Exons (1-8, 20-26) SPINK5 Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the SPINK5 gene.
More info about this panel Spain.
Netherton Syndrome , Sequencing Rest Exons SPINK5 Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the SPINK5 gene.
More info about this panel Spain.
Congenital Ichthyosis and related disorders , Panel Massive Sequencing (NGS) 33 Genes Panel
Spain.
By Reference Laboratory Genetics Congenital Ichthyosis and related disorders , Panel Massive Sequencing (NGS) 33 Genes that also includes the following genes: SLC27A4 SNAP29 ST14 STS TGM1 TGM5 ALOXE3 ABCA12 SPINK5 MPLKIP
More info about this panel Spain.
Netherton Syndrome , Massive Sequencing (NGS) SPINK5 Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the SPINK5 gene.
More info about this panel Spain.
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