Lesch-nyhan Syndrome

Description

Lesch-Nyhan syndrome (LNS) is the most severe form of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency (see this term), a hereditary disorder of purine metabolism, and is associated with uric acid overproduction (UAO), neurological troubles, and behavioral problems.

Clinical Features

Top most frequent phenotypes and symptoms related to Lesch-nyhan Syndrome

  • Spasticity
  • Anemia
  • Behavioral abnormality
  • Intellectual disability, mild
  • Renal insufficiency
  • Intellectual disability, moderate
  • Abnormality of movement
  • Hematuria
  • Hemiplegia/hemiparesis
  • Hyperuricemia

And another 1 symptoms. If you need more information about this disease we can help you.

Click here to know more about Mendelian.

Incidence and onset information

— Based on the latest data available LESCH-NYHAN SYNDROME have a estimated birth prevalence of 0.34 per 100k worldwide.
No data available about the known clinical features onset.

Alternative names

Lesch-nyhan Syndrome Is also known as hypoxanthine guanine phosphoribosyltransferase deficiency, grade iv, hypoxanthine guanine phosphoribosyltransferase complete deficiency, hprt complete deficiency, hprt deficiency grade iv.

Researches and researchers

Doctors, researchs, and experts related to Lesch-nyhan Syndrome extracted from public data.

Lesch-nyhan Syndrome Experts map



Current Researchs and researchers

  • HANNOVER — Pr Roland SEIFERT

    Investigator of research project - Director of department

    • Institution/s:
      — Zentrum Pharmakologie und Toxikologie, Medizinische Hochschule Hannover
    • Research area/topic::

      Molecular Analysis of Signal Transduction Abnormalities in Lesch-Nyhan-Syndrome (LNS)


  • SIENA — Pr Vanna MICHELI

    Responsible for diagnostic tests - Investigator of research project

    • Institution/s:
      — Dipartimento di Biotecnologie, Chimica e Farmacia, Università degli Studi di Siena - Presidio San Miniato
    • Research area/topic::

      Preclinical testing of PNP inhibitors analogues of Immucillin-G for therapy of Lesh-Nyhan disease: preliminary in vitro studies


  • MADRID — Dr Rosa TORRES JIMÉNEZ

    Responsible for diagnostic tests - Principal investigator of clinical trial - Investigator of research project - Director of laboratory

    • Institution/s:
      — IdiPAZ - Instituto de Investigación Sanitaria del Hospital Universitario La Paz
      — Hospital Universitario La Paz
    • Research area/topic::

      Function of hypoxanthine-guanine phosphoribosyltransferase and hypoxanthine effect in the differentiation and maintenance of the neural system. Understanding the pathophysiology of Lesch Nyhan disease



Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Lesch-nyhan Syndrome Recommended genes panels

Panel Name, Specifity and genes Tested/covered
MitoMet®Plus aCGH Analysis.

By Baylor Miraca Genetics Laboratories (United States).

RGS9, RHO, GRK1, RLBP1, RNASEL, BCS1L, RP1, RP2, RP9, RPE65, RPGR, RPL35A, MRPL3, RPS14, RS1, SAG, SARDH, SCO2, SCP2, SDHB , (...)

View the complete list with 612 more genes
Specificity
1 %
Genes
100 %
HPRT Sequence Analysis.

By Baylor Miraca Genetics Laboratories (United States).

HPRT1
Specificity
100 %
Genes
100 %
HPRT Sequence Analysis (Familial Mutation/Variant Analysis).

By Baylor Miraca Genetics Laboratories (United States).

HPRT1
Specificity
100 %
Genes
100 %
HPRT Sequence Analysis (Prenatal Diagnosis).

By Baylor Miraca Genetics Laboratories (United States).

HPRT1
Specificity
100 %
Genes
100 %
Epilepsy Advanced Sequencing and CNV Evaluation.

By Athena Diagnostics Inc (United States).

SCN1A, SCN1B, SCN2A, SCN3A, SCN5A, SCN8A, SCN9A, SHH, ST3GAL3, ST3GAL5, STIL, SIX3, SLC2A1, SLC35A2, SLC6A1, SLC6A8, SLC9A6, SMC1A, KDM5C, SMS , (...)

View the complete list with 214 more genes
Specificity
1 %
Genes
100 %
Epilepsy Advanced Sequencing and CNV Evaluation - Syndromic Disorders.

By Athena Diagnostics Inc (United States).

SYNGAP1, TBX1, TSC1, TSC2, SETBP1, PANK2, ADGRV1, ATP6V0A2, MAGI2, VPS13A, ANKRD11, VPS13B, KIF1BP, KANSL1, SMC3, PIGV, NIPBL, ROGDI, GFAP, HPRT1 , (...)

View the complete list with 11 more genes
Specificity
4 %
Genes
100 %
Syndromic Autism Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).

SCN1A, SCN2A, BRAF, SLC2A1, SLC9A6, SMC1A, KDM5C, CDKL5, STXBP1, TBR1, TCF4, MED12, TSC1, TSC2, UBE3A, HDAC8, CNTNAP2, FOXP2, CACNA1C, NSD1 , (...)

View the complete list with 63 more genes
Specificity
2 %
Genes
100 %
NGS XLID Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).

RPL10, RPS6KA3, SLC16A2, SLC9A6, SMC1A, KDM5C, SMS, SOX3, CDKL5, SYN1, SYP, TAF1, TIMM8A, TSPAN7, MED12, UBE2A, USP9X, ZMYM3, ZNF41, ZNF711 , (...)

View the complete list with 94 more genes
Specificity
1 %
Genes
100 %

We have 72 more panels available in our App

Get the app

Sources and references

You can check the following sources for additional information.

ORPHANET Genetic Syndrome Finder

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 14; EIEE14 EHLERS-DANLOS SYNDROME WITH SHORT STATURE AND LIMB ANOMALIES; EDSSLA DYSFIBRINOGENEMIA, CONGENITAL

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more