NLRP1 gene related symptoms and diseases
All the information presented here about the NLRP1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,NCBIGENE,OMIM,HGNC, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to NLRP1 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Anemia | Uncommon - Between 30% and 50% cases |
| Follicular hyperkeratosis | Uncommon - Between 30% and 50% cases |
| Papule | Uncommon - Between 30% and 50% cases |
| Hyperkeratosis | Uncommon - Between 30% and 50% cases |
| Atrophic scars | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with NLRP1 gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Epidermal acanthosis
- Corneal neovascularization
- Autoimmunity
Rarely - Less than 30% cases
- Respiratory insufficiency
- Photophobia
- Diarrhea
- Splenomegaly
- Fever
And 48 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to NLRP1 gene
Here you will find a list of rare diseases related to the NLRP1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1; VAMAS1
Alternate names
VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1; VAMAS1 Is also known as vtlg, vitiligo, slev1, systemic lupus erythematosus, vitiligo-related
Description
Generalized vitiligo is an autoimmune disease characterized by melanocyte loss, which results in patchy depigmentation of skin and hair, and is associated with an elevated risk of other autoimmune diseases. It is a genetically complex disorder involving multiple susceptibility genes and unknown environmental triggers. Patients with generalized vitiligo have elevated frequencies of other autoimmune diseases, suggesting that these diseases involve shared genetic components (summary by Jin et al., 2010).
Most common symptoms of VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1; VAMAS1
- Anemia
- Alopecia
- Autoimmunity
- Nevus
- Systemic lupus erythematosus
More info about VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1; VAMAS1
SOURCES: OMIM
CORNEAL INTRAEPITHELIAL DYSKERATOSIS-PALMOPLANTAR HYPERKERATOSIS-LARYNGEAL DYSKERATOSIS SYNDROME
Description
Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome is a rare, genetic, corneal dystrophy disorder characterized by corneal opacification and dyskeratosis (which may cause visual impairment), associated with systemic features including palmoplantar hyperkeratosis, laryngeal dyskeratosis, pruritic hyperkeratotic scars, chronic rhintis, dyshidrosis and/or nail thickening.
More info about CORNEAL INTRAEPITHELIAL DYSKERATOSIS-PALMOPLANTAR HYPERKERATOSIS-LARYNGEAL DYSKERATOSIS SYNDROME
SOURCES: ORPHANET
PALMOPLANTAR CARCINOMA, MULTIPLE SELF-HEALING; MSPC
Alternate names
PALMOPLANTAR CARCINOMA, MULTIPLE SELF-HEALING; MSPC Is also known as corneal intraepithelial dyskeratosis and ectodermal dysplasia, formerly, cided, formerly
Description
Multiple self-healing palmoplantar carcinoma (MSPC) is characterized by recurrent keratoacanthomas in palmoplantar skin as well as in conjunctival and corneal epithelia. In addition, patients experience a high susceptibility to malignant squamous cell carcinoma (summary by Zhong et al., 2016).
Most common symptoms of PALMOPLANTAR CARCINOMA, MULTIPLE SELF-HEALING; MSPC
- Neoplasm
- Short neck
- Long philtrum
- Hyperkeratosis
- Carcinoma
More info about PALMOPLANTAR CARCINOMA, MULTIPLE SELF-HEALING; MSPC
SOURCES: OMIM
AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS; AIADK
Description
Autoinflammation with arthritis and dyskeratosis is characterized by recurrent fever, widespread skin dyskeratosis, arthritis, elevated biologic markers of inflammation, and mild autoimmunity with a high transitional B-cell level (summary by Grandemange et al., 2016).
Most common symptoms of AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS; AIADK
- Growth delay
- Failure to thrive
- Anemia
- Fever
- Respiratory insufficiency
More info about AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS; AIADK
SOURCES: OMIM
Search interest in NLRP1
Potential gene panels for NLRP1 gene
NLRP1 Panel
Germany.
By Institute for Human Genetics University Clinic Freiburg
This panel specifically test the NLRP1 gene.
More info about this panel Germany.
NLRP1. Complete sequencing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the NLRP1 gene.
More info about this panel Spain.
NLRP1 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the NLRP1 gene.
More info about this panel United States.
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.
Autoinflammatory Syndrome Panel Panel
Finland.
By Blueprint Genetics Autoinflammatory Syndrome Panel that also includes the following genes: TNFAIP3 TNFRSF1A TREX1 ACP5 NLRP1 LPIN2 IL36RN SAMHD1 NLRP3 NLRC4
More info about this panel Finland.
Vitiligo Panel
Spain.
By Bioarray
This panel specifically test the NLRP1 gene.
More info about this panel Spain.
Tempus xO assay Panel
United States.
By Tempus Labs, Inc. Tempus xO assay that also includes the following genes: BCL6 RHEB RIPK1 RIPK2 RIPK3 RIT1 BCL7A BCL9 BCR ROBO2
More info about this panel United States.
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