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.

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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

SOURCES: OMIM ORPHANET MESH

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

SOURCES: OMIM ORPHANET


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

PSTPIP1 Panel

Germany.

By Institute for Human Genetics University Clinic Freiburg

This panel specifically test the PSTPIP1 gene.

More info about this panel

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

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

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

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

PAPA Panel

Netherlands.

By Genome Diagnostics Laboratory University Medical Center Utrecht

This panel specifically test the PSTPIP1 gene.

More info about this panel

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

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

Single gene testing PSTPIP1 Panel

Germany.

By CeGaT GmbH

This panel specifically test the PSTPIP1 gene.

More info about this panel

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

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

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

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

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

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

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

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

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

PSTPIP1 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the PSTPIP1 gene.

More info about this panel

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

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

Pyogenic arthritis - pyoderma gangrenosum - acne Panel

Spain.

By Bioarray

This panel specifically test the PSTPIP1 gene.

More info about this panel

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

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

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

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

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

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

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


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