PEPD gene related symptoms and diseases

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

Top 5 symptoms and clinical features associated to PEPD gene

Symptoms // Phenotype % Cases
Intellectual disability Very Common - Between 80% and 100% cases
Abnormal lung morphology Very Common - Between 80% and 100% cases
Generalized hirsutism Very Common - Between 80% and 100% cases
Recurrent pneumonia Very Common - Between 80% and 100% cases
Bilateral single transverse palmar creases Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

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

  • Low anterior hairline
  • Skin ulcer
  • Lymphedema
  • Abnormality of retinal pigmentation
  • Thin skin
  • Reduced bone mineral density
  • Inflammatory abnormality of the skin
  • Depressed nasal ridge

And 68 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to PEPD gene

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


PROLIDASE DEFICIENCY


Alternate names

PROLIDASE DEFICIENCY Is also known as hyperimidodipeptiduria

Description

Prolidase deficiency is an inherited disorder of peptide metabolism characterized by severe skin lesions, recurrent infections (involving mainly the skin and respiratory system), dysmorphic facial features, variable cognitive impairment, and splenomegaly.

Most common symptoms of PROLIDASE DEFICIENCY

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Hypertelorism
  • Micrognathia


More info about PROLIDASE DEFICIENCY

SOURCES: ORPHANET MESH OMIM


Potential gene panels for PEPD gene

PEPD Gene Sequencing Panel

United States.

By GeneDx

This panel specifically test the PEPD gene.

More info about this panel

Lymphedema NGS Multi-Gene Panel (36 Genes) Panel

Netherlands.

By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam Lymphedema NGS Multi-Gene Panel (36 Genes) that also includes the following genes: BRAF SOS1 SOX18 VEGFC CBL SHOC2 GJC2 TUBGCP6 CDK19 SPRED1

More info about this panel

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

Prolidase deficiency Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the PEPD gene.

More info about this panel

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

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

PEPD Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the PEPD 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

Organic Acidemia/Aciduria & Cobalamin Deficiency Panel Panel

Finland.

By Blueprint Genetics Organic Acidemia/Aciduria & Cobalamin Deficiency Panel that also includes the following genes: BCS1L SLC25A1 SUCLG1 TCN2 UMPS AMN CBS SUGCT CD320 MCEE

More info about this panel

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

PEPD 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 PEPD gene.

More info about this panel

Prolidase Deficiency (PEPD) Targeted Testing Panel

United States.

By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children

This panel specifically test the PEPD gene.

More info about this panel

Prolidase Deficiency , Sequencing PEPD Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the PEPD gene.

More info about this panel

Prolidase deficiency Panel

Germany.

By Labor Dr. Wisplinghoff

This panel specifically test the PEPD gene.

More info about this panel

Prolidase Deficiency: gene deletion/duplication Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics

This panel specifically test the PEPD gene.

More info about this panel

Prolidase Deficiency: gene sequencing Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics

This panel specifically test the PEPD gene.

More info about this panel


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