PNP gene related symptoms and diseases

All the information presented here about the PNP gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,OMIM,NCBIGENE,ORPHANET, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to PNP gene

Symptoms // Phenotype % Cases
Intellectual disability Very Common - Between 80% and 100% cases
Recurrent viral infections Very Common - Between 80% and 100% cases
Recurrent bacterial infections Very Common - Between 80% and 100% cases
Spastic tetraparesis Very Common - Between 80% and 100% cases
Recurrent upper respiratory tract infections Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with PNP gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Spastic diplegia
  • Autoimmune hemolytic anemia
  • Autoimmune thrombocytopenia
  • Recurrent lower respiratory tract infections
  • Impaired T cell function
  • Sinusitis
  • Hypouricemia
  • Pure red cell aplasia

And 28 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to PNP gene

Here you will find a list of rare diseases related to the PNP. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


PURINE NUCLEOSIDE PHOSPHORYLASE DEFICIENCY

Alternate names

PURINE NUCLEOSIDE PHOSPHORYLASE DEFICIENCY Is also known as pnp deficiency, pnpase deficiency, nucleoside phosphorylase deficiency

Description

Purine nucleoside phosphorylase (PNP) deficiency is a disorder of purine metabolism characterized by progressive immunodeficiency leading to recurrent and opportunistic infections, autoimmunity and malignancy as well as neurologic manifestations.

Most common symptoms of PURINE NUCLEOSIDE PHOSPHORYLASE DEFICIENCY

  • Intellectual disability
  • Generalized hypotonia
  • Ataxia
  • Failure to thrive
  • Muscular hypotonia


More info about PURINE NUCLEOSIDE PHOSPHORYLASE DEFICIENCY

SOURCES: ORPHANET OMIM


Potential gene panels for PNP gene

PNP Familial Mutation/Variant Analysis Panel

United States.

By Baylor Miraca Genetics Laboratories

This panel specifically test the PNP gene.

More info about this panel
United States.

PNP Prenatal Sequence Analysis Panel

United States.

By Baylor Miraca Genetics Laboratories

This panel specifically test the PNP gene.

More info about this panel
United States.

PNP Sequence Analysis Panel

United States.

By Baylor Miraca Genetics Laboratories

This panel specifically test the PNP gene.

More info about this panel
United States.

Severe Combined Immunodeficiency and T Cell Disorders Panel by next-generation sequencing (NGS) Panel

United States.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center Severe Combined Immunodeficiency and T Cell Disorders Panel by next-generation sequencing (NGS) that also includes the following genes: RMRP STAT5B STIM1 TBX1 FOXN1 ZAP70 CD3D CD3E DCLRE1C ADA

More info about this panel
United States.

PNP 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 PNP gene.

More info about this panel
United States.

Severe Combined Immunodeficiency and T Cell Disorders Deletion/Duplication Panel Panel

United States.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center Severe Combined Immunodeficiency and T Cell Disorders Deletion/Duplication Panel that also includes the following genes: RMRP STAT5B STIM1 TBX1 FOXN1 ZAP70 CD3D CD3E ADA NHEJ1

More info about this panel
United States.

PNP Deletion/duplication analysis 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 PNP gene.

More info about this panel
United States.

Ataxia Exome Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Ataxia Exome Panel that also includes the following genes: BCS1L RTN2 SACS SCN1A SCN2A SCN8A SCO1 SDHA SDHD SLC16A2

More info about this panel
United States.

NGS Neurodegenerative disorders Multi-Gene Panel (73 genes) Panel

Netherlands.

By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam NGS Neurodegenerative disorders Multi-Gene Panel (73 genes) that also includes the following genes: SGSH SLC2A1 SPR NPC2 CBS APTX COQ8A PDSS1 MMAA MMAB

More info about this panel
Netherlands.

PNP. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the PNP gene.

More info about this panel
Spain.

Severe combined immunodeficiency Seq + Del/Dup Panel Panel

United States.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Severe combined immunodeficiency Seq + Del/Dup Panel that also includes the following genes: TBX1 WAS FOXN1 DCLRE1C ADA DOCK8 CHD7 NHEJ1 IKBKG IL2RG

More info about this panel
United States.

Severe combined immunodeficency Seq Analysis Panel

United States.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Severe combined immunodeficency Seq Analysis that also includes the following genes: TBX1 WAS FOXN1 DCLRE1C ADA DOCK8 CHD7 NHEJ1 IKBKG IL2RG

More info about this panel
United States.

Severe combined immunodeficiency Del/dup Panel Panel

United States.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Severe combined immunodeficiency Del/dup Panel that also includes the following genes: TBX1 WAS FOXN1 DCLRE1C ADA DOCK8 CHD7 NHEJ1 IKBKG IL2RG

More info about this panel
United States.

Purine nucleoside phosphorylase deficiency (sequence analysis of PNP gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the PNP gene.

More info about this panel
Portugal.

Familial Hemophagocytic Lymphohistiocytosis (FHL) Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Familial Hemophagocytic Lymphohistiocytosis (FHL) Sequencing Panel with CNV Detection that also includes the following genes: SH2D1A SLC7A7 BTK STX11 STXBP2 TNFRSF1A CD27 CD70 WAS NLRP3

More info about this panel
United States.

Mental retardation - different panels Panel

Germany.

By Institute of Human Genetics Uniklinik RWTH Aachen Mental retardation - different panels that also includes the following genes: RGS7 RIT1 RMRP BCS1L RPL10 RPS6KA3 RRAS SALL1 SC5D ATXN10

More info about this panel
Germany.

Severe combined immunodeficiency (SCID) panel Panel

Netherlands.

By Genome Diagnostics Laboratory University Medical Center Utrecht Severe combined immunodeficiency (SCID) panel that also includes the following genes: STAT5B STIM1 TBX1 CD40 CD40LG ZAP70 CD3D CD3E CD3G CD8A

More info about this panel
Netherlands.

B-positive SCID panel Panel

Germany.

By Centogene AG - the Rare Disease Company B-positive SCID panel that also includes the following genes: RMRP STAT5B STIM1 TBX1 FOXN1 ZAP70 CD3D CD3E CD247 ORAI1

More info about this panel
Germany.

Comprehensive SCID panel Panel

Germany.

By Centogene AG - the Rare Disease Company Comprehensive SCID panel that also includes the following genes: RMRP STAT5B STIM1 TBX1 FOXN1 ZAP70 CD3D CD3E CD247 DCLRE1C

More info about this panel
Germany.

Immunodeficiency due to purine nucleoside phosphorylase deficiency Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the PNP gene.

More info about this panel
Germany.

CentoICU platinum plus Panel

Germany.

By Centogene AG - the Rare Disease Company CentoICU platinum plus that also includes the following genes: RMRP BCS1L BDNF RPS19 RPS6KA3 SALL1 SCN1A SCN2A SFTPB SFTPC

More info about this panel
Germany.

New Born testing (CentoICU) Panel

Germany.

By Centogene AG - the Rare Disease Company New Born testing (CentoICU) that also includes the following genes: RMRP BCS1L BDNF RPS19 RPS6KA3 SALL1 SCN1A SCN2A SFTPB SFTPC

More info about this panel
Germany.

Combined immunodeficiencies Panel Panel

Germany.

By CeGaT GmbH Combined immunodeficiencies Panel that also includes the following genes: RMRP SEMA3E STAT5B STIM1 STK4 TAPBP TBX1 THBD TNFRSF4 CD40

More info about this panel
Germany.

Invitae Comprehensive Severe Combined Immunodeficiency (SCID) Panel Panel

United States.

By Invitae Invitae Comprehensive Severe Combined Immunodeficiency (SCID) Panel that also includes the following genes: ZAP70 CD3D CD3E CD247 DCLRE1C ADA CORO1A NHEJ1 AK2 IL2RG

More info about this panel
United States.

Invitae Monogenic Autoimmunity Panel Panel

United States.

By Invitae Invitae Monogenic Autoimmunity Panel that also includes the following genes: RMRP SH2D1A SLC7A7 BTK STAT1 STAT3 STAT5B STIM1 STX11 STXBP2

More info about this panel
United States.

Invitae Comprehensive Severe Combined Immunodeficiency (SCID) and Combined Immunodeficiency (CID) Panel Panel

United States.

By Invitae Invitae Comprehensive Severe Combined Immunodeficiency (SCID) and Combined Immunodeficiency (CID) Panel that also includes the following genes: STK4 TAPBP TNFRSF4 CD27 CD40LG ZAP70 CARD11 CD3D CD3E CD3G

More info about this panel
United States.

Invitae Purine Metabolism Disorders Panel Panel

United States.

By Invitae Invitae Purine Metabolism Disorders Panel that also includes the following genes: XDH GPHN MOCOS ADA ADSL AMPD1 HPRT1 MOCS1 PNP

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 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.

Invitae Hereditary Hemophagocytic Lymphohistiocytosis (HLH) Disorders Panel Panel

United States.

By Invitae Invitae Hereditary Hemophagocytic Lymphohistiocytosis (HLH) Disorders Panel that also includes the following genes: SH2D1A SLC7A7 BTK STX11 STXBP2 CD27 WAS ADA LYST UNC13D

More info about this panel
United States.

Severe Combined Immunodeficiency (SCID) B+: Sequencing Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Severe Combined Immunodeficiency (SCID) B+: Sequencing Panel that also includes the following genes: STAT5B STIM1 TBX1 FOXN1 ZAP70 CD3D CD3E CD247 ORAI1 IL2RG

More info about this panel
United States.

Severe Combined Immunodeficiency (SCID) B-: Sequencing Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Severe Combined Immunodeficiency (SCID) B-: Sequencing Panel that also includes the following genes: ZAP70 DCLRE1C ADA NHEJ1 LIG4 PNP PTPRC RAC2 RAG1 RAG2

More info about this panel
United States.

Severe Combined Immunodeficiency (SCID) B+/B-: Sequencing Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Severe Combined Immunodeficiency (SCID) B+/B-: Sequencing Panel that also includes the following genes: STAT5B STIM1 TBX1 FOXN1 ZAP70 CD3D CD3E CD247 DCLRE1C ADA

More info about this panel
United States.

PNP Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the PNP 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.

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.

Comprehensive Metabolism Panel Panel

Finland.

By Blueprint Genetics Comprehensive Metabolism Panel that also includes the following genes: BCS1L CNNM2 RYR1 CNNM4 SCN4A SEC23B SGSH SI SLC40A1 SLC12A3

More info about this panel
Finland.

Purine and Pyrimidine Metabolism Disorders Panel Panel

Finland.

By Blueprint Genetics Purine and Pyrimidine Metabolism Disorders Panel that also includes the following genes: TPMT UMOD UMPS XDH GPHN UPB1 NT5C3A MOCOS ADA DHODH

More info about this panel
Finland.

Purine nucleoside phosphorylase deficiency Panel

Spain.

By Bioarray

This panel specifically test the PNP gene.

More info about this panel
Spain.

OmniSeq Comprehensive Panel

United States.

By OmniSeq, Inc. OmniSeq Comprehensive that also includes the following genes: RHEB BCL9 ROS1 RPS6KB1 SF3B1 FOXL2 BRAF BRCA1 BRCA2 SMARCB1

More info about this panel
United States.

PURINE NUCLEOSIDE PHOSPHORYLASE DEFICIENCY Panel

Spain.

By Laboratorio de Genetica Clinica SL

This panel specifically test the PNP gene.

More info about this panel
Spain.

Purine Nucleoside Phosphorylase Deficiency, Sequencing PNP Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the PNP gene.

More info about this panel
Spain.

Severe Combined Immune Deficiency (SCID) , Panel Massive Sequencing (NGS) 18 Genes Panel

Spain.

By Reference Laboratory Genetics Severe Combined Immune Deficiency (SCID) , Panel Massive Sequencing (NGS) 18 Genes that also includes the following genes: STAT5B STIM1 FOXN1 ZAP70 CD3D CD3E DCLRE1C ADA NHEJ1 ORAI1

More info about this panel
Spain.

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