Prolidase Deficiency

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.

Clinical Features

Top most frequent phenotypes and symptoms related to Prolidase Deficiency

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Hypertelorism
  • Micrognathia
  • Abnormal facial shape
  • Ptosis
  • Anemia
  • High palate
  • Delayed speech and language development

And another 71 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
No data available about the known clinical features onset.

Alternative names

Prolidase Deficiency Is also known as hyperimidodipeptiduria.

Researches and researchers

Doctors, researchs, and experts related to Prolidase Deficiency extracted from public data.

Prolidase Deficiency Experts map



Current Researchs and researchers

  • WIEN — Pr Regina GRILLARI

    Investigator of research project

    • Institution/s:
      — Evercyte GmbH
    • Research area/topic::

      SYBIL: Systems biology for the functional validation of genetic determinants of skeletal diseases - AT


  • LYON — Dr David KOUBI

    Investigator of research project

    • Institution/s:
      — FINOVATIS
    • Research area/topic::

      SYBIL: Systems biology for the functional validation of genetic determinants of skeletal diseases - FR


  • BERLIN — Dr Uwe KORNAK

    Responsible for diagnostic tests - Investigator of research project

    • Institution/s:
      — Charité - Universitätsmedizin Berlin (CVK)
      — Institut für Medizinische Genetik und Humangenetik, Charité - Universitätsmedizin Berlin (CVK)
    • Research area/topic::

      SYBIL-Systems biology for the functional validation of genetic determinants of skeletal diseases -DE-


  • HAMBURG — Pr Thorsten SCHINKE

    Investigator of research project

    • Institution/s:
      — IOBM - Universitätsklinikum Hamburg-Eppendorf
    • Research area/topic::

      SYBIL-Systems biology for the functional validation of genetic determinants of skeletal diseases -DE-


  • PAVIA — Pr Antonio ROSSI

    Responsible for diagnostic tests - Investigator of research project - Director of laboratory

    • Institution/s:
      — Dipartimento di Medicina Molecolare, Università degli Studi di Pavia - Biochimica '' A. Castellani''
    • Research area/topic::

      SYBIL: Systems biology for the functional validation of genetic determinants of skeletal diseases - IT


  • MANCHESTER — Pr Michael BRIGGS

    Investigator of research project - Coordinator of research network

    • Institution/s:
      — Faculty of of Life Sciences - University of Manchester
      — Newcastle University, Newcastle upon Tyne Hospitals NHS Trust
    • Research area/topic::

      SYBIL: Systems biology for the functional validation of genetic determinants of skeletal diseases - UK


  • NEWCASTLE UPON TYNE — Pr Michael BRIGGS

    Investigator of research project - Coordinator of research network

    • Institution/s:
      — Faculty of of Life Sciences - University of Manchester
      — Newcastle University, Newcastle upon Tyne Hospitals NHS Trust
    • Research area/topic::

      SYBIL: Systems biology for the functional validation of genetic determinants of skeletal diseases - UK



Mendelian

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Prolidase Deficiency Recommended genes panels

Panel Name, Specifity and genes Tested/covered
PEPD Gene Sequencing.

By GeneDx (United States).

PEPD
Specificity
100 %
Genes
100 %
Lymphedema NGS Multi-Gene Panel (36 Genes).

By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam (Netherlands).

BRAF, SOS1, SOX18, VEGFC, CBL, SHOC2, GJC2, TUBGCP6, CDK19, SPRED1, FAT4, ALG8, CCBE1, FLT4, FOXC2, GATA2, GJA1, GLA, HGF, HRAS , (...)

View the complete list with 16 more genes
Specificity
3 %
Genes
100 %
Mental retardation - different panels.

By Institute of Human Genetics Uniklinik RWTH Aachen (Germany).

RGS7, RIT1, RMRP, BCS1L, RPL10, RPS6KA3, RRAS, SALL1, SC5D, ATXN10, BLM, SCN1A, SCN2A, SCN8A, SCO2, AIMP1, SDCCAG8, SDHA, SDHB, SGSH , (...)

View the complete list with 845 more genes
Specificity
1 %
Genes
100 %
Prolidase deficiency.

By Centogene AG - the Rare Disease Company (Germany).

PEPD
Specificity
100 %
Genes
100 %
CentoICU platinum plus.

By Centogene AG - the Rare Disease Company (Germany).

RMRP, BCS1L, BDNF, RPS19, RPS6KA3, SALL1, SCN1A, SCN2A, SFTPB, SFTPC, SFTPD, ST3GAL5, STIL, SIX1, SIX5, SLC16A1, SLCO1B1, SLCO1B3, SLC22A5, BRAF , (...)

View the complete list with 487 more genes
Specificity
1 %
Genes
100 %
New Born testing (CentoICU).

By Centogene AG - the Rare Disease Company (Germany).

RMRP, BCS1L, BDNF, RPS19, RPS6KA3, SALL1, SCN1A, SCN2A, SFTPB, SFTPC, SFTPD, ST3GAL5, STIL, SIX1, SIX5, SLC16A1, SLCO1B1, SLCO1B3, SLC22A5, BRAF , (...)

View the complete list with 487 more genes
Specificity
1 %
Genes
100 %
PEPD.

By Fulgent Genetics Fulgent Genetics (United States).

PEPD
Specificity
100 %
Genes
100 %
Primary Immunodeficiency Panel.

By Blueprint Genetics (Finland).

RMRP, RORC, CFB, BLM, SH2D1A, SLC7A7, SMARCAL1, SMARCD2, SRP72, BTK, STAT1, STAT2, STAT3, STAT5B, STIM1, STK4, STX11, STXBP2, TAPBP, TBX1 , (...)

View the complete list with 253 more genes
Specificity
1 %
Genes
100 %

We have 8 more panels available in our App

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Sources and references

You can check the following sources for additional information.

ORPHANET MESH OMIM Rare Disease Symptoms Checker

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like ULNAR/FIBULAR RAY DEFECT AND BRACHYDACTYLY HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3; IHPRF3 GLOMUVENOUS MALFORMATIONS; GVM ACID-LABILE SUBUNIT DEFICIENCY; ACLSD

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