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.
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
Search interest in PEPD
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 United States.
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 Netherlands.
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.
Prolidase deficiency Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the PEPD 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.
PEPD Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the PEPD 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.
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 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.
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 United States.
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 United States.
Prolidase Deficiency , Sequencing PEPD Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the PEPD gene.
More info about this panel Spain.
Prolidase deficiency Panel
Germany.
By Labor Dr. Wisplinghoff
This panel specifically test the PEPD gene.
More info about this panel Germany.
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 Canada.
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 Canada.
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