Hurler Syndrome

Description

Hurler syndrome is the most severe form of mucopolysaccharidosis type 1 (MPS1; see this term), a rare lysosomal storage disease, characterized by skeletal abnormalities, cognitive impairment, heart disease, respiratory problems, enlarged liver and spleen, characteristic facies and reduced life expectancy.

Clinical Features

Top most frequent phenotypes and symptoms related to Hurler Syndrome

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Scoliosis
  • Growth delay
  • Hypertelorism
  • Micrognathia
  • Sensorineural hearing impairment
  • Abnormal facial shape

And another 254 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Based on the latest data available Hurler Syndrome have a estimated prevalence of 0.5 per 100k worldwide.
No data available about the known clinical features onset.

Alternative names

Hurler Syndrome Is also known as mpsih, mps1h, mps1-h, mucopolysaccharidosis type 1h, mucopolysaccharidosis type ih, hurler disease.

Researches and researchers

Doctors, researchs, and experts related to Hurler Syndrome extracted from public data.

Hurler Syndrome Experts map



Current Researchs and researchers

  • ROSTOCK — Pr Arndt ROLFS

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

    • Institution/s:
      — Albrecht-Kossel-Institute for Neuroregeneration (AKos)
      — Albrecht-Kossel-Institute for Neuroregeneration (AKos)
      — Centogene AG
    • Research area/topic::

      Biomarker for Hurler disease (BioHurler): An International, multicentre, epidemiological protocol


  • MILANO — Dr Alessandra BIFFI

    Principal investigator of clinical trial - Investigator of research project

    • Institution/s:
      — Istituto San Raffaele Telethon per la Terapia Genica - TIGET
    • Research area/topic::

      Hematopoietic stem cell gene therapy for the treatment of Type I Mucopolysaccharidosis


  • MONZA — Dr Marta SERAFINI

    Investigator of research project

    • Institution/s:
      — Clinica Pediatrica - Universit√† di Milano Bicocca, Azienda Ospedaliera San Gerardo
    • Research area/topic::

      Evaluation of stem cells-mediated gene therapy for Hurler's Syndrome



Mendelian

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Hurler Syndrome Recommended genes panels

Panel Name, Specifity and genes Tested/covered
IDUA Sequence Analysis.

By Baylor Miraca Genetics Laboratories (United States).

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

By Baylor Miraca Genetics Laboratories (United States).

IDUA
Specificity
100 %
Genes
100 %
IDUA Sequence Analysis (Prenatal Diagnosis).

By Baylor Miraca Genetics Laboratories (United States).

IDUA
Specificity
100 %
Genes
100 %
GeneAware Complete Panel Version 2 (Female).

By Baylor Miraca Genetics Laboratories (United States).

RMRP, BCS1L, SACS, BLM, SGCA, SGCB, SGCG, SGSH, SLC12A6, SLC17A5, SLC22A5, SLC25A13, SLC25A15, SLC26A2, SLC35A3, SLC7A7, SMN1, SMPD1, BTD, BTK , (...)

View the complete list with 139 more genes
Specificity
1 %
Genes
100 %
GeneAware Complete Panel Version 2 (Male).

By Baylor Miraca Genetics Laboratories (United States).

RMRP, BCS1L, SACS, BLM, SGCA, SGCB, SGCG, SGSH, SLC12A6, SLC17A5, SLC22A5, SLC25A13, SLC25A15, SLC26A2, SLC35A3, SLC7A7, SMN1, SMPD1, BTD, TGM1 , (...)

View the complete list with 129 more genes
Specificity
1 %
Genes
100 %
Non-immune Hydrops Panel.

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

RIT1, RPL11, RPL35A, RPL5, RPS10, RPS17, RPS19, RPS24, RPS26, SEC23B, SLC17A5, BRAF, SMPD1, SOS1, SOS2, SOX18, UROS, CBL, SHOC2, ALG9 , (...)

View the complete list with 66 more genes
Specificity
2 %
Genes
100 %
Lysosomal Storage Disease Panel.

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

SGSH, SLC17A5, SMPD1, TCF4, MCOLN1, NPC2, ADAMTSL2, DNAJC5, SUMF1, TPP1, CLN3, CLN5, CLN6, CLN8, DYM, ANTXR2, COL11A2, PEX26, GNE, CTNS , (...)

View the complete list with 54 more genes
Specificity
2 %
Genes
100 %
Hurler syndrome.

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

IDUA
Specificity
100 %
Genes
100 %

We have 71 more panels available in our App

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Sources and references

You can check the following sources for additional information.

OMIM ORPHANET 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 TETRAMELIC DEFICIENCIES, ECTODERMAL DYSPLASIA, DEFORMED EARS, AND OTHER ABNORMALITIES PITUITARY HORMONE DEFICIENCY, COMBINED, 1; CPHD1 EPIDERMOLYSIS BULLOSA SIMPLEX WITH MIGRATORY CIRCINATE ERYTHEMA CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2S; CMT2S CILIARY DYSKINESIA, PRIMARY, 1; CILD1 KRABBE DISEASE

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