PSTPIP1 gene related symptoms and diseases
All the information presented here about the PSTPIP1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,HGNC,ORPHANET,OMIM, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to PSTPIP1 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Arthritis | Very Common - Between 80% and 100% cases |
| Acne | Common - Between 50% and 80% cases |
| Myositis | Uncommon - Between 30% and 50% cases |
| Lymphadenopathy | Uncommon - Between 30% and 50% cases |
| Arthralgia | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with PSTPIP1 gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Type I diabetes mellitus
- Pustule
- Pyoderma
- Proteinuria
- Fatigue
- Fever
- Increased inflammatory response
Rarely - Less than 30% cases
- Arterial thrombosis
And 111 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to PSTPIP1 gene
Here you will find a list of rare diseases related to the PSTPIP1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
BEHÇET DISEASE
Alternate names
BEHÇET DISEASE Is also known as bd, behcet disease
Description
Behçet's disease (BD) is a chronic, relapsing, multisystemic vasculitis characterized by mucocutaneous lesions, as well as articular, vascular, ocular and central nervous system manifestations.
Most common symptoms of BEHÇET DISEASE
- Seizures
- Ataxia
- Neoplasm
- Pain
- Cataract
More info about BEHÇET DISEASE
PYOGENIC ARTHRITIS-PYODERMA GANGRENOSUM-ACNE SYNDROME
Alternate names
PYOGENIC ARTHRITIS-PYODERMA GANGRENOSUM-ACNE SYNDROME Is also known as familial recurrent arthritis, papa syndrome, fra
Description
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome is a rare pleiotropic autoinflammatory disorder of childhood, primarily affecting the joints and skin.
Most common symptoms of PYOGENIC ARTHRITIS-PYODERMA GANGRENOSUM-ACNE SYNDROME
- Fever
- Fatigue
- Arthralgia
- Arthritis
- Proteinuria
More info about PYOGENIC ARTHRITIS-PYODERMA GANGRENOSUM-ACNE SYNDROME
SOURCES: ORPHANET
PYOGENIC STERILE ARTHRITIS, PYODERMA GANGRENOSUM, AND ACNE
Alternate names
PYOGENIC STERILE ARTHRITIS, PYODERMA GANGRENOSUM, AND ACNE Is also known as papas, familial recurrent arthritis, papa syndrome, fra
Most common symptoms of PYOGENIC STERILE ARTHRITIS, PYODERMA GANGRENOSUM, AND ACNE
- Diabetes mellitus
- Arthritis
- Proteinuria
- Type I diabetes mellitus
- Acne
More info about PYOGENIC STERILE ARTHRITIS, PYODERMA GANGRENOSUM, AND ACNE
SOURCES: OMIM
HYPERZINCEMIA AND HYPERCALPROTECTINEMIA
Alternate names
HYPERZINCEMIA AND HYPERCALPROTECTINEMIA Is also known as recurrent infections-inflammatory syndrome due to zinc metabolism disorder syndrome, albumin binding of zinc, elevated, hyperzincemia, familial dysalbuminemic
Description
Hyperzincemia and hypercalprotectinemia is a rare inborn error of zinc metabolism characterized by recurrent infections, hepatosplenomegaly, anemia (unresponsive to iron supplementation) and chronic systemic inflammation in the presence of high plasma concentrations of zinc and calprotectin. Patients typically present dermal ulcers or other cutaneous manifestations (e.g. inflammation) and arthralgia. Severe epistaxis and spontaneous hematomas have also been reported.
Most common symptoms of HYPERZINCEMIA AND HYPERCALPROTECTINEMIA
- Growth delay
- Anemia
- Recurrent infections
- Abnormality of metabolism/homeostasis
- Hepatosplenomegaly
More info about HYPERZINCEMIA AND HYPERCALPROTECTINEMIA
Search interest in PSTPIP1
Potential gene panels for PSTPIP1 gene
PSTPIP1 Sequencing Panel
United States.
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center
This panel specifically test the PSTPIP1 gene.
More info about this panel United States.
PSTPIP1 Panel
Germany.
By Institute for Human Genetics University Clinic Freiburg
This panel specifically test the PSTPIP1 gene.
More info about this panel Germany.
Periodic Fever Syndromes Panel, Sequencing and Deletion/Duplication Panel
United States.
By ARUP Laboratories, Molecular Genetics and Genomics Periodic Fever Syndromes Panel, Sequencing and Deletion/Duplication that also includes the following genes: TNFRSF1A LPIN2 NLRP3 ELANE MEFV MVK PSTPIP1
More info about this panel United States.
PSTPIP1. Complete sequencing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the PSTPIP1 gene.
More info about this panel Spain.
Pyogenic sterile arthritis, pyoderma gangrenosum, and acne (sequence analysis of PSTPIP1 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the PSTPIP1 gene.
More info about this panel Portugal.
Periodic Fever Syndromes Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Periodic Fever Syndromes Sequencing Panel with CNV Detection that also includes the following genes: TNFAIP3 TNFRSF1A LPIN2 IL36RN NLRP3 CARD14 NLRP12 ELANE NOD2 MEFV
More info about this panel United States.
PAPA Panel
Netherlands.
By Genome Diagnostics Laboratory University Medical Center Utrecht
This panel specifically test the PSTPIP1 gene.
More info about this panel Netherlands.
Autoinflammatory panel Panel
Netherlands.
By Genome Diagnostics Laboratory University Medical Center Utrecht Autoinflammatory panel that also includes the following genes: SH3BP2 TNFRSF1A LPIN2 IL36RN NLRP3 NCSTN NLRP12 NLRP7 PSENEN NOD2
More info about this panel Netherlands.
Pyogenic sterile arthritis, pyoderma gangrenosum, and acne Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the PSTPIP1 gene.
More info about this panel Germany.
Single gene testing PSTPIP1 Panel
Germany.
By CeGaT GmbH
This panel specifically test the PSTPIP1 gene.
More info about this panel Germany.
Autoinflammatory diseases Panel Panel
Germany.
By CeGaT GmbH Autoinflammatory diseases Panel that also includes the following genes: SH3BP2 TNFRSF1A LPIN2 IL36RN RBCK1 NLRP3 CARD14 NLRP12 SLC29A3 HFE
More info about this panel Germany.
Invitae Periodic Fever Syndromes Panel Panel
United States.
By Invitae Invitae Periodic Fever Syndromes Panel that also includes the following genes: TNFRSF1A LPIN2 NLRP3 NLRC4 TRNT1 ADA2 NLRP12 ELANE MEFV MVK
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 Autoinflammatory Syndromes Panel Panel
United States.
By Invitae Invitae Autoinflammatory Syndromes Panel that also includes the following genes: SH3BP2 TNFRSF1A LPIN2 IL36RN RBCK1 NLRP3 NLRC4 CARD14 TRNT1 ADA2
More info about this panel United States.
Pyogenic sterile arthritis, pyoderma gangrenosum, and acne, Syndrome: PSTPIP1 gene sequence analysis Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the PSTPIP1 gene.
More info about this panel Spain.
Periodic fever syndromes Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Periodic fever syndromes that also includes the following genes: TNFRSF1A LPIN2 NLRP3 ELANE MEFV MVK PSTPIP1
More info about this panel Spain.
Hereditary Periodic Fever Syndromes: Sequencing Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Hereditary Periodic Fever Syndromes: Sequencing Panel that also includes the following genes: TNFRSF1A LPIN2 NLRP3 ELANE MEFV MVK PSTPIP1
More info about this panel United States.
Hereditary Periodic Fever Syndromes: Deletion/Duplication Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Hereditary Periodic Fever Syndromes: Deletion/Duplication Panel that also includes the following genes: TNFRSF1A LPIN2 NLRP3 ELANE MEFV MVK PSTPIP1
More info about this panel United States.
Periodic Fevers Syndrome NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Periodic Fevers Syndrome NGS Panel that also includes the following genes: TNFRSF1A LPIN2 NLRP3 ELANE MEFV MVK PSTPIP1
More info about this panel United States.
PSTPIP1 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the PSTPIP1 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.
Pyogenic arthritis - pyoderma gangrenosum - acne Panel
Spain.
By Bioarray
This panel specifically test the PSTPIP1 gene.
More info about this panel Spain.
Periodic Fever NGS and Deletion/Duplication Panel Panel
United States.
By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children Periodic Fever NGS and Deletion/Duplication Panel that also includes the following genes: TNFRSF1A LPIN2 NLRP3 NLRP12 ELANE NOD2 MEFV MVK PSTPIP1
More info about this panel United States.
PSTPIP1 Gene Sequencing and Deletion/Duplication Analysis Panel
United States.
By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children
This panel specifically test the PSTPIP1 gene.
More info about this panel United States.
PYOGENIC, ARTHRITIS, PYODERMA GANGRENOSUM AND ACNE Panel
Spain.
By Laboratorio de Genetica Clinica SL
This panel specifically test the PSTPIP1 gene.
More info about this panel Spain.
PERIODIC FEVER Panel
Spain.
By Laboratorio de Genetica Clinica SL PERIODIC FEVER that also includes the following genes: TNFRSF1A LPIN2 NLRP3 NLRC4 NLRP12 ELANE NOD2 MEFV MVK PSTPIP1
More info about this panel Spain.
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum and Acne (PAPA), Sequencing PSTPIP1 Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the PSTPIP1 gene.
More info about this panel Spain.
Hereditary Systemic Autoinflammatory Diseases , Panel Massive Sequencing (NGS) 6 Genes Panel
Spain.
By Reference Laboratory Genetics Hereditary Systemic Autoinflammatory Diseases , Panel Massive Sequencing (NGS) 6 Genes that also includes the following genes: TNFRSF1A NLRP3 NOD2 MEFV MVK PSTPIP1
More info about this panel Spain.
Periodic Fever and Related Syndromes, Panel Massive Sequencing (NGS) 7 Genes Panel
Spain.
By Reference Laboratory Genetics Periodic Fever and Related Syndromes, Panel Massive Sequencing (NGS) 7 Genes that also includes the following genes: TNFRSF1A LPIN2 NLRP3 ELANE MEFV MVK PSTPIP1
More info about this panel Spain.
If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like LEFTY2 DOCK8 ACTG2